psui3905/ncbi_genes_summary huggingface dataset:
DEFA3, Official Symbol DEFA3provided by HGNC Official Full Name defensin alpha 3provided by HGNC Primary source HGNC:HGNC:2762 See related Ensembl:ENSG00000239839 MIM:604522; AllianceGenome:HGNC:2762 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HP3; DEF3; HNP3; HP-3; HNP-3 Summary Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014] Expression Restricted expression toward bone marrow (RPKM 20860.0) See more
DEFA4, Official Symbol DEFA4provided by HGNC Official Full Name defensin alpha 4provided by HGNC Primary source HGNC:HGNC:2763 See related Ensembl:ENSG00000164821 MIM:601157; AllianceGenome:HGNC:2763 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HP4; DEF4; HP-4; HNP-4 Summary Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014] Expression Restricted expression toward bone marrow (RPKM 1355.2) See more Orthologs all
DEFA5, Official Symbol DEFA5provided by HGNC Official Full Name defensin alpha 5provided by HGNC Primary source HGNC:HGNC:2764 See related Ensembl:ENSG00000164816 MIM:600472; AllianceGenome:HGNC:2764 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEF5; HD-5 Summary Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014] Expression Restricted expression toward small intestine (RPKM 5886.0) See more Orthologs all
DEFA6, Official Symbol DEFA6provided by HGNC Official Full Name defensin alpha 6provided by HGNC Primary source HGNC:HGNC:2765 See related Ensembl:ENSG00000164822 MIM:600471; AllianceGenome:HGNC:2765 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEF6; HD-6 Summary Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014] Expression Restricted expression toward small intestine (RPKM 3311.8) See more Orthologs mouse all
DEFA8P, Official Symbol DEFA8Pprovided by HGNC Official Full Name defensin alpha 8, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31799 See related Ensembl:ENSG00000223629 AllianceGenome:HGNC:31799 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFAP1 Expression Restricted expression toward bone marrow (RPKM 25.0) See more
DEFA9P, Official Symbol DEFA9Pprovided by HGNC Official Full Name defensin alpha 9, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31800 See related Ensembl:ENSG00000233238 AllianceGenome:HGNC:31800 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFAP2 Expression Low expression observed in reference dataset See more
DEFB1, Official Symbol DEFB1provided by HGNC Official Full Name defensin beta 1provided by HGNC Primary source HGNC:HGNC:2766 See related Ensembl:ENSG00000164825 MIM:602056; AllianceGenome:HGNC:2766 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD1; HBD1; DEFB-1; DEFB101 Summary Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 464.8), salivary gland (RPKM 76.4) and 2 other tissues See more Orthologs all
DEFB103A, Official Symbol DEFB103Aprovided by HGNC Official Full Name defensin beta 103Aprovided by HGNC Primary source HGNC:HGNC:15967 See related Ensembl:ENSG00000176797 AllianceGenome:HGNC:15967 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-3; HBD3; HBP3; DEFB3; HBP-3; DEFB-3; DEFB103 Summary Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB104A, Official Symbol DEFB104Aprovided by HGNC Official Full Name defensin beta 104Aprovided by HGNC Primary source HGNC:HGNC:18115 See related Ensembl:ENSG00000176782 AllianceGenome:HGNC:18115 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-4; DEFB4; hBD-4; DEFB-4; DEFB104 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more
DEFB104B, Official Symbol DEFB104Bprovided by HGNC Official Full Name defensin beta 104Bprovided by HGNC Primary source HGNC:HGNC:26165 See related Ensembl:ENSG00000177023 AllianceGenome:HGNC:26165 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-4; hBD-4; DEFB-4 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB105A, Official Symbol DEFB105Aprovided by HGNC Official Full Name defensin beta 105Aprovided by HGNC Primary source HGNC:HGNC:18087 See related Ensembl:ENSG00000186562 AllianceGenome:HGNC:18087 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-5; DEFB-5; DEFB105 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB105B, Official Symbol DEFB105Bprovided by HGNC Official Full Name defensin beta 105Bprovided by HGNC Primary source HGNC:HGNC:29930 See related Ensembl:ENSG00000186599 AllianceGenome:HGNC:29930 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-5; DEFB-5 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB106A, Official Symbol DEFB106Aprovided by HGNC Official Full Name defensin beta 106Aprovided by HGNC Primary source HGNC:HGNC:18088 See related Ensembl:ENSG00000186579 AllianceGenome:HGNC:18088 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-6; DEFB-6; DEFB106 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Oct 2014] Orthologs all
DEFB106B, Official Symbol DEFB106Bprovided by HGNC Official Full Name defensin beta 106Bprovided by HGNC Primary source HGNC:HGNC:28879 See related Ensembl:ENSG00000187082 AllianceGenome:HGNC:28879 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-6; DEFB-6 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Oct 2014] Orthologs all
DEFB107A, Official Symbol DEFB107Aprovided by HGNC Official Full Name defensin beta 107Aprovided by HGNC Primary source HGNC:HGNC:18086 See related Ensembl:ENSG00000186572 AllianceGenome:HGNC:18086 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-7; DEFB-7; DEFB107 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB107B, Official Symbol DEFB107Bprovided by HGNC Official Full Name defensin beta 107Bprovided by HGNC Primary source HGNC:HGNC:31918 See related Ensembl:ENSG00000198129 AllianceGenome:HGNC:31918 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HsT21816 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB108B, Official Symbol DEFB108Bprovided by HGNC Official Full Name defensin beta 108Bprovided by HGNC Primary source HGNC:HGNC:29966 See related Ensembl:ENSG00000184276 AllianceGenome:HGNC:29966 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hBD-8; DEFB-8 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. A pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Oct 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB108E, Official Symbol DEFB108Eprovided by HGNC Official Full Name defensin beta 108E (pseudogene)provided by HGNC Primary source HGNC:HGNC:30174 See related AllianceGenome:HGNC:30174 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB108P4
DEFB108F, Official Symbol DEFB108Fprovided by HGNC Official Full Name defensin beta 108F (pseudogene)provided by HGNC Primary source HGNC:HGNC:38062 See related Ensembl:ENSG00000188438 AllianceGenome:HGNC:38062 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB108P5 Expression Low expression observed in reference dataset See more Orthologs all
DEFB109B, Official Symbol DEFB109Bprovided by HGNC Official Full Name defensin beta 109Bprovided by HGNC Primary source HGNC:HGNC:33469 See related Ensembl:ENSG00000206034 AllianceGenome:HGNC:33469 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HBD9; DEFB109; DEF109P1B; DEFB109P1B Summary Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Predicted to be involved in cell chemotaxis and defense response to bacterium. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
DEFB109C, Official Symbol DEFB109Cprovided by HGNC Official Full Name defensin beta 109Cprovided by HGNC Primary source HGNC:HGNC:43844 See related Ensembl:ENSG00000205989 AllianceGenome:HGNC:43844 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB109
DEFB109F, Official Symbol DEFB109Fprovided by HGNC Official Full Name defensin beta 109F (pseudogene)provided by HGNC Primary source HGNC:HGNC:38066 See related Ensembl:ENSG00000290939 AllianceGenome:HGNC:38066 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DEFB110, Official Symbol DEFB110provided by HGNC Official Full Name defensin beta 110provided by HGNC Primary source HGNC:HGNC:18091 See related Ensembl:ENSG00000203970 AllianceGenome:HGNC:18091 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-10; DEFB-11; DEFB111 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] Orthologs mouse all
DEFB112, Official Symbol DEFB112provided by HGNC Official Full Name defensin beta 112provided by HGNC Primary source HGNC:HGNC:18093 See related Ensembl:ENSG00000180872 AllianceGenome:HGNC:18093 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-12 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014] Orthologs all
DEFB113, Official Symbol DEFB113provided by HGNC Official Full Name defensin beta 113provided by HGNC Primary source HGNC:HGNC:18094 See related Ensembl:ENSG00000214642 AllianceGenome:HGNC:18094 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-13 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014] Orthologs mouse all
DEFB114, Official Symbol DEFB114provided by HGNC Official Full Name defensin beta 114provided by HGNC Primary source HGNC:HGNC:18095 See related Ensembl:ENSG00000177684 MIM:615243; AllianceGenome:HGNC:18095 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB14; DEFB-14 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014] Orthologs all
DEFB115, Official Symbol DEFB115provided by HGNC Official Full Name defensin beta 115provided by HGNC Primary source HGNC:HGNC:18096 See related Ensembl:ENSG00000215547 AllianceGenome:HGNC:18096 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-15 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014] Orthologs mouse all
DEFB116, Official Symbol DEFB116provided by HGNC Official Full Name defensin beta 116provided by HGNC Primary source HGNC:HGNC:18097 See related Ensembl:ENSG00000215545 AllianceGenome:HGNC:18097 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-16 Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014] Orthologs mouse all
DEFB119, Official Symbol DEFB119provided by HGNC Official Full Name defensin beta 119provided by HGNC Primary source HGNC:HGNC:18099 See related Ensembl:ENSG00000180483 MIM:615997; AllianceGenome:HGNC:18099 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB20; DEFB-19; DEFB-20; DEFB120; ESC42-RELA; ESC42-RELB Summary This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Expression Restricted expression toward testis (RPKM 62.1) See more Orthologs mouse all
DEFB121, Official Symbol DEFB121provided by HGNC Official Full Name defensin beta 121provided by HGNC Primary source HGNC:HGNC:18101 See related Ensembl:ENSG00000204548 MIM:616075; AllianceGenome:HGNC:18101 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB21; ESC42RELC Summary This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Expression Restricted expression toward testis (RPKM 1.3) See more Orthologs all
DEFB122, Official Symbol DEFB122provided by HGNC Official Full Name defensin beta 122 (pseudogene)provided by HGNC Primary source HGNC:HGNC:18102 See related Ensembl:ENSG00000290996 MIM:616077; AllianceGenome:HGNC:18102 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB22; DEFB-22; DEFB122P Expression Low expression observed in reference dataset See more
DEFB123, Official Symbol DEFB123provided by HGNC Official Full Name defensin beta 123provided by HGNC Primary source HGNC:HGNC:18103 See related Ensembl:ENSG00000180424 MIM:616076; AllianceGenome:HGNC:18103 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB23; DEFB-23; ESC42-RELD Summary Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014] Expression Restricted expression toward testis (RPKM 33.5) See more Orthologs mouse all
DEFB124, Official Symbol DEFB124provided by HGNC Official Full Name defensin beta 124provided by HGNC Primary source HGNC:HGNC:18104 See related Ensembl:ENSG00000180383 AllianceGenome:HGNC:18104 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-24 Summary Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
DEFB125, Official Symbol DEFB125provided by HGNC Official Full Name defensin beta 125provided by HGNC Primary source HGNC:HGNC:18105 See related Ensembl:ENSG00000178591 AllianceGenome:HGNC:18105 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-25 Summary Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
DEFB126, Official Symbol DEFB126provided by HGNC Official Full Name defensin beta 126provided by HGNC Primary source HGNC:HGNC:15900 See related Ensembl:ENSG00000125788 MIM:620131; AllianceGenome:HGNC:15900 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HBD26; DEFB26; hBD-26; C20orf8; DEFB-26; bA530N10.1 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
DEFB127, Official Symbol DEFB127provided by HGNC Official Full Name defensin beta 127provided by HGNC Primary source HGNC:HGNC:16206 See related Ensembl:ENSG00000088782 AllianceGenome:HGNC:16206 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEF-27; DEFB27; hBD-27; DEFB-27; C20orf73; bA530N10.2 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014] Orthologs all
DEFB128, Official Symbol DEFB128provided by HGNC Official Full Name defensin beta 128provided by HGNC Primary source HGNC:HGNC:18106 See related Ensembl:ENSG00000185982 AllianceGenome:HGNC:18106 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB28; hBD-28; DEFB-28 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014] Orthologs mouse all
DEFB130A, Official Symbol DEFB130Aprovided by HGNC Official Full Name defensin beta 130Aprovided by HGNC Primary source HGNC:HGNC:18107 See related Ensembl:ENSG00000232948 AllianceGenome:HGNC:18107 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB30; DEFB-30; DEFB130; DEFB130L Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB130B, Official Symbol DEFB130Bprovided by HGNC Official Full Name defensin beta 130Bprovided by HGNC Primary source HGNC:HGNC:39814 See related Ensembl:ENSG00000233050 AllianceGenome:HGNC:39814 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide; cytolysis by host of symbiont cells; and defense response to protozoan. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
DEFB130D, Official Symbol DEFB130Dprovided by HGNC Official Full Name defensin beta 130D (pseudogene)provided by HGNC Primary source HGNC:HGNC:38059 See related Ensembl:ENSG00000232773 AllianceGenome:HGNC:38059 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DEFB131A, Official Symbol DEFB131Aprovided by HGNC Official Full Name defensin beta 131Aprovided by HGNC Primary source HGNC:HGNC:18108 See related Ensembl:ENSG00000186146 AllianceGenome:HGNC:18108 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB-31; DEFB131 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 4p16. [provided by RefSeq, Nov 2014] Expression Biased expression in duodenum (RPKM 4.4), small intestine (RPKM 1.1) and 1 other tissue See more Orthologs all
DEFB131B, Official Symbol DEFB131Bprovided by HGNC Official Full Name defensin beta 131Bprovided by HGNC Primary source HGNC:HGNC:38058 See related Ensembl:ENSG00000225805 AllianceGenome:HGNC:38058 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in defense response to bacterium and innate immune response. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
DEFB131D, Official Symbol DEFB131Dprovided by HGNC Official Full Name defensin beta 131D (pseudogene)provided by HGNC Primary source HGNC:HGNC:38061 See related Ensembl:ENSG00000237215 AllianceGenome:HGNC:38061 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DEFB132, Official Symbol DEFB132provided by HGNC Official Full Name defensin beta 132provided by HGNC Primary source HGNC:HGNC:33806 See related Ensembl:ENSG00000186458 AllianceGenome:HGNC:33806 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-32; DEFB32; HEL-75; UNQ827; DEFB-32; KFLL827 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014] Expression Restricted expression toward fat (RPKM 25.0) See more Orthologs all
DEFB134, Official Symbol DEFB134provided by HGNC Official Full Name defensin beta 134provided by HGNC Primary source HGNC:HGNC:32399 See related Ensembl:ENSG00000205882 AllianceGenome:HGNC:32399 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs all
DEFB135, Official Symbol DEFB135provided by HGNC Official Full Name defensin beta 135provided by HGNC Primary source HGNC:HGNC:32400 See related Ensembl:ENSG00000205883 AllianceGenome:HGNC:32400 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB136 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
DEFB136, Official Symbol DEFB136provided by HGNC Official Full Name defensin beta 136provided by HGNC Primary source HGNC:HGNC:34433 See related Ensembl:ENSG00000205884 AllianceGenome:HGNC:34433 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB137 Summary Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
DEFB4A, Official Symbol DEFB4Aprovided by HGNC Official Full Name defensin beta 4Aprovided by HGNC Primary source HGNC:HGNC:2767 See related Ensembl:ENSG00000171711 MIM:602215; AllianceGenome:HGNC:2767 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BD-2; SAP1; DEFB2; DEFB4; HBD-2; DEFB-2; DEFB102 Summary Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008] Expression Biased expression in gall bladder (RPKM 1.2), esophagus (RPKM 0.7) and 3 other tissues See more
DEFB4B, Official Symbol DEFB4Bprovided by HGNC Official Full Name defensin beta 4Bprovided by HGNC Primary source HGNC:HGNC:30193 See related Ensembl:ENSG00000177257 AllianceGenome:HGNC:30193 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFB4P Summary Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014] Expression Biased expression in gall bladder (RPKM 1.0), esophagus (RPKM 0.7) and 3 other tissues See more Orthologs all
DEFT1P, Official Symbol DEFT1Pprovided by HGNC Official Full Name defensin theta 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:18339 See related AllianceGenome:HGNC:18339 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEFQ1; DEFT1 Expression Restricted expression toward bone marrow (RPKM 1.1) See more
DEGS1, Official Symbol DEGS1provided by HGNC Official Full Name delta 4-desaturase, sphingolipid 1provided by HGNC Primary source HGNC:HGNC:13709 See related Ensembl:ENSG00000143753 MIM:615843; AllianceGenome:HGNC:13709 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MLD; DEGS; DES1; Des-1; FADS7; HLD18; MIG15; DEGS-1 Summary This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010] Expression Broad expression in skin (RPKM 186.9), placenta (RPKM 50.2) and 21 other tissues See more Orthologs mouse all
DEGS2, Official Symbol DEGS2provided by HGNC Official Full Name delta 4-desaturase, sphingolipid 2provided by HGNC Primary source HGNC:HGNC:20113 See related Ensembl:ENSG00000168350 MIM:610862; AllianceGenome:HGNC:20113 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DES2; FADS8; C14orf66 Summary This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008] Expression Biased expression in small intestine (RPKM 14.4), duodenum (RPKM 11.1) and 13 other tissues See more Orthologs mouse all
DEK, Official Symbol DEKprovided by HGNC Official Full Name DEK proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:2768 See related Ensembl:ENSG00000124795 MIM:125264; AllianceGenome:HGNC:2768 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D6S231E Summary This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in lymph node (RPKM 58.8), thyroid (RPKM 53.1) and 25 other tissues See more Orthologs mouse all