psui3905/ncbi_genes_summary huggingface dataset:
DHX36, Official Symbol DHX36provided by HGNC Official Full Name DEAH-box helicase 36provided by HGNC Primary source HGNC:HGNC:14410 See related Ensembl:ENSG00000174953 MIM:612767; AllianceGenome:HGNC:14410 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 G4R1; RHAU; DDX36; MLEL1 Summary This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 24.2), thyroid (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
DHX37, Official Symbol DHX37provided by HGNC Official Full Name DEAH-box helicase 37provided by HGNC Primary source HGNC:HGNC:17210 See related Ensembl:ENSG00000150990 MIM:617362; AllianceGenome:HGNC:17210 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 Dhr1; DDX37; SRXY11; NEDBAVC Summary This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 4.6), lymph node (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
DHX38, Official Symbol DHX38provided by HGNC Official Full Name DEAH-box helicase 38provided by HGNC Primary source HGNC:HGNC:17211 See related Ensembl:ENSG00000140829 MIM:605584; AllianceGenome:HGNC:17211 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 RP84; DDX38; PRP16; PRPF16 Summary DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 15.5), bone marrow (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
DHX40, Official Symbol DHX40provided by HGNC Official Full Name DEAH-box helicase 40provided by HGNC Primary source HGNC:HGNC:18018 See related Ensembl:ENSG00000108406 MIM:607570; AllianceGenome:HGNC:18018 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 PAD; DDX40; ARG147 Summary This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 20.7), thyroid (RPKM 19.9) and 25 other tissues See more Orthologs mouse all
DHX40P1, Official Symbol DHX40P1provided by HGNC Official Full Name DEAH-box helicase 40 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20687 See related Ensembl:ENSG00000266992 AllianceGenome:HGNC:20687 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 DHX40P
DHX57, Official Symbol DHX57provided by HGNC Official Full Name DExH-box helicase 57provided by HGNC Primary source HGNC:HGNC:20086 See related Ensembl:ENSG00000163214 AllianceGenome:HGNC:20086 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 DDX57 Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 16.0), brain (RPKM 4.7) and 24 other tissues See more Orthologs mouse all
DHX58, Official Symbol DHX58provided by HGNC Official Full Name DExH-box helicase 58provided by HGNC Primary source HGNC:HGNC:29517 See related Ensembl:ENSG00000108771 MIM:608588; AllianceGenome:HGNC:29517 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 LGP2; RLR-3; D11LGP2; D11lgp2e Summary Enables double-stranded RNA binding activity; single-stranded RNA binding activity; and zinc ion binding activity. Involved in negative regulation of defense response and negative regulation of type I interferon production. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 10.6), testis (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
DHX8, Official Symbol DHX8provided by HGNC Official Full Name DEAH-box helicase 8provided by HGNC Primary source HGNC:HGNC:2749 See related Ensembl:ENSG00000067596 MIM:600396; AllianceGenome:HGNC:2749 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 DDX8; Dhr2; HRH1; PRP22; PRPF22 Summary This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in bone marrow (RPKM 10.3), testis (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
DHX9, Official Symbol DHX9provided by HGNC Official Full Name DExH-box helicase 9provided by HGNC Primary source HGNC:HGNC:2750 See related Ensembl:ENSG00000135829 MIM:603115; AllianceGenome:HGNC:2750 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 LKP; RHA; DDX9; NDH2; NDHII Summary This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010] Expression Ubiquitous expression in bone marrow (RPKM 54.5), testis (RPKM 36.3) and 25 other tissues See more Orthologs mouse all
DIABLO, Official Symbol DIABLOprovided by HGNC Official Full Name diablo IAP-binding mitochondrial proteinprovided by HGNC Primary source HGNC:HGNC:21528 See related Ensembl:ENSG00000184047 MIM:605219; AllianceGenome:HGNC:21528 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 SMAC; DFNA64 Summary This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Expression Ubiquitous expression in testis (RPKM 16.5), adrenal (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
DIAPH1, Official Symbol DIAPH1provided by HGNC Official Full Name diaphanous related formin 1provided by HGNC Primary source HGNC:HGNC:2876 See related Ensembl:ENSG00000131504 MIM:602121; AllianceGenome:HGNC:2876 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 DIA1; DRF1; DFNA1; LFHL1; SCBMS; hDIA1; mDia1 Summary This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 26.9), bone marrow (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
DIAPH1-AS1, Official Symbol DIAPH1-AS1provided by HGNC Official Full Name DIAPH1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40177 See related Ensembl:ENSG00000246422 AllianceGenome:HGNC:40177 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.4) See more
DIAPH2, Official Symbol DIAPH2provided by HGNC Official Full Name diaphanous related formin 2provided by HGNC Primary source HGNC:HGNC:2877 See related Ensembl:ENSG00000147202 MIM:300108; AllianceGenome:HGNC:2877 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 DIA; POF; DIA2; DRF2; POF2; POF2A Summary The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 5.5), fat (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
DIAPH2-AS1, Official Symbol DIAPH2-AS1provided by HGNC Official Full Name DIAPH2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:16972 See related Ensembl:ENSG00000236256 MIM:300347; AllianceGenome:HGNC:16972 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EPAG Expression Low expression observed in reference dataset See more
DIAPH3, Official Symbol DIAPH3provided by HGNC Official Full Name diaphanous related formin 3provided by HGNC Primary source HGNC:HGNC:15480 See related Ensembl:ENSG00000139734 MIM:614567; AllianceGenome:HGNC:15480 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 AN; DIA2; DRF3; AUNA1; NSDAN; diap3; mDia2 Summary This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Broad expression in testis (RPKM 3.1), placenta (RPKM 1.0) and 14 other tissues See more Orthologs mouse all
DIAPH3-AS1, Official Symbol DIAPH3-AS1provided by HGNC Official Full Name DIAPH3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39915 See related Ensembl:ENSG00000227528 AllianceGenome:HGNC:39915 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 3.4), placenta (RPKM 0.2) and 1 other tissue See more
DICER1, Official Symbol DICER1provided by HGNC Official Full Name dicer 1, ribonuclease IIIprovided by HGNC Primary source HGNC:HGNC:17098 See related Ensembl:ENSG00000100697 MIM:606241; AllianceGenome:HGNC:17098 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 DCR1; GLOW; MNG1; aviD; Dicer; HERNA; RMSE2; Dicer1e; K12H4.8-LIKE Summary This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. This protein also acts as a strong antiviral agent with activity against RNA viruses, including the Zika and SARS-CoV-2 viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in appendix (RPKM 6.6), placenta (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
DICER1-AS1, Official Symbol DICER1-AS1provided by HGNC Official Full Name DICER1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43017 See related Ensembl:ENSG00000235706 AllianceGenome:HGNC:43017 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DICER1-AS Expression Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues See more
DIDO1, Official Symbol DIDO1provided by HGNC Official Full Name death inducer-obliterator 1provided by HGNC Primary source HGNC:HGNC:2680 See related Ensembl:ENSG00000101191 MIM:604140; AllianceGenome:HGNC:2680 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 BYE1; DIO1; DATF1; DIDO2; DIDO3; DIO-1; DATF-1; C20orf158; dJ885L7.8 Summary Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 4.7), spleen (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
DIMT1, Official Symbol DIMT1provided by HGNC Official Full Name DIM1 rRNA methyltransferase and ribosome maturation factorprovided by HGNC Primary source HGNC:HGNC:30217 See related Ensembl:ENSG00000086189 MIM:612499; AllianceGenome:HGNC:30217 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 DIM1; DIMT1L; HUSSY5; HSA9761 Summary The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in urinary bladder (RPKM 12.5), lymph node (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
DIMT1P1, Official Symbol DIMT1P1provided by HGNC Official Full Name DIM1 dimethyladenosine transferase 1 homolog pseudogene 1provided by HGNC Primary source HGNC:HGNC:52892 See related Ensembl:ENSG00000271249 AllianceGenome:HGNC:52892 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DINOL, Official Symbol DINOLprovided by HGNC Official Full Name damage induced long noncoding RNAprovided by HGNC Primary source HGNC:HGNC:53146 See related Ensembl:ENSG00000285244 AllianceGenome:HGNC:53146 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DINO
DIO1, Official Symbol DIO1provided by HGNC Official Full Name iodothyronine deiodinase 1provided by HGNC Primary source HGNC:HGNC:2883 See related Ensembl:ENSG00000211452 MIM:147892; AllianceGenome:HGNC:2883 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 5DI; THMA2; TXDI1 Summary The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018] Expression Biased expression in thyroid (RPKM 180.4), kidney (RPKM 58.4) and 1 other tissue See more Orthologs mouse all
DIO2, Official Symbol DIO2provided by HGNC Official Full Name iodothyronine deiodinase 2provided by HGNC Primary source HGNC:HGNC:2884 See related Ensembl:ENSG00000211448 MIM:601413; AllianceGenome:HGNC:2884 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 D2; 5DII; SelY; DIOII; TXDI2; SELENOY Summary The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018] Expression Biased expression in thyroid (RPKM 69.7), endometrium (RPKM 13.6) and 2 other tissues See more Orthologs mouse all
DIO2-AS1, Official Symbol DIO2-AS1provided by HGNC Official Full Name DIO2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44153 See related Ensembl:ENSG00000258766 AllianceGenome:HGNC:44153 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in thyroid (RPKM 2.6), endometrium (RPKM 1.3) and 6 other tissues See more
DIO3, Official Symbol DIO3provided by HGNC Official Full Name iodothyronine deiodinase 3provided by HGNC Primary source HGNC:HGNC:2885 See related Ensembl:ENSG00000197406 MIM:601038; AllianceGenome:HGNC:2885 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 D3; 5DIII; TXDI3; DIOIII Summary The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in pregnant uterus, placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It regulates circulating fetal thyroid hormone concentrations, and thus plays a critical role in mammalian development. Knockout mice lacking this gene exhibit abnormalities related to development and reproduction, and increased activity of this enzyme in infants with hemangiomas causes severe hypothyroidism. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, May 2016] Orthologs mouse all
DIO3OS, Official Symbol DIO3OSprovided by HGNC Official Full Name DIO3 opposite strand upstream RNAprovided by HGNC Primary source HGNC:HGNC:20348 See related Ensembl:ENSG00000258498 MIM:608523; AllianceGenome:HGNC:20348 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DIO3-OS; DIO3-AS1; C14orf134; NCRNA00041 Summary The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM, Mar 2008] Orthologs mouse all
DIP2A, Official Symbol DIP2Aprovided by HGNC Official Full Name disco interacting protein 2 homolog Aprovided by HGNC Primary source HGNC:HGNC:17217 See related Ensembl:ENSG00000160305 MIM:607711; AllianceGenome:HGNC:17217 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 DIP2; C21orf106 Summary The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in spleen (RPKM 7.3), prostate (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
DIP2A-IT1, Official Symbol DIP2A-IT1provided by HGNC Official Full Name DIP2A intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41430 See related Ensembl:ENSG00000223692 AllianceGenome:HGNC:41430 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in bone marrow (RPKM 1.1), heart (RPKM 0.1) and 10 other tissues See more
DIP2B, Official Symbol DIP2Bprovided by HGNC Official Full Name disco interacting protein 2 homolog Bprovided by HGNC Primary source HGNC:HGNC:29284 See related Ensembl:ENSG00000066084 MIM:611379; AllianceGenome:HGNC:29284 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 This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in brain (RPKM 13.6), skin (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
DIP2C, Official Symbol DIP2Cprovided by HGNC Official Full Name disco interacting protein 2 homolog Cprovided by HGNC Primary source HGNC:HGNC:29150 See related Ensembl:ENSG00000151240 MIM:611380; AllianceGenome:HGNC:29150 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 KIAA0934 Summary This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in kidney (RPKM 7.7), brain (RPKM 6.6) and 24 other tissues See more Orthologs mouse all
DIP2C-AS1, Official Symbol DIP2C-AS1provided by HGNC Official Full Name DIP2C antisense RNA 1provided by HGNC Primary source HGNC:HGNC:30724 See related Ensembl:ENSG00000180525 AllianceGenome:HGNC:30724 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRR26; C10orf108 Expression Broad expression in duodenum (RPKM 1.9), gall bladder (RPKM 1.7) and 15 other tissues See more Orthologs all
DIPK1A, Official Symbol DIPK1Aprovided by HGNC Official Full Name divergent protein kinase domain 1Aprovided by HGNC Primary source HGNC:HGNC:32213 See related Ensembl:ENSG00000154511 MIM:614542; AllianceGenome:HGNC:32213 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 FAM69A Summary This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in brain (RPKM 13.7), fat (RPKM 8.8) and 24 other tissues See more Orthologs mouse all
DIPK1B, Official Symbol DIPK1Bprovided by HGNC Official Full Name divergent protein kinase domain 1Bprovided by HGNC Primary source HGNC:HGNC:28290 See related Ensembl:ENSG00000165716 MIM:614543; AllianceGenome:HGNC:28290 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 FAM69B; pp6977; C9orf136 Summary This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in placenta (RPKM 8.8), brain (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
DIPK1C, Official Symbol DIPK1Cprovided by HGNC Official Full Name divergent protein kinase domain 1Cprovided by HGNC Primary source HGNC:HGNC:31729 See related Ensembl:ENSG00000187773 MIM:614544; AllianceGenome:HGNC:31729 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 FNCAD; FAM69C; C18orf51 Summary This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] Expression Biased expression in brain (RPKM 3.7), testis (RPKM 1.4) and 3 other tissues See more Orthologs mouse all
DIPK2A, Official Symbol DIPK2Aprovided by HGNC Official Full Name divergent protein kinase domain 2Aprovided by HGNC Primary source HGNC:HGNC:28490 See related Ensembl:ENSG00000181744 MIM:612200; AllianceGenome:HGNC:28490 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 DIA1; HASF; C3orf58; GoPro49 Summary Involved in several processes, including cardiac muscle cell proliferation; negative regulation of smooth muscle cell apoptotic process; and positive regulation of protein kinase C activity. Located in Golgi membrane and extracellular space. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 13.9), bone marrow (RPKM 9.8) and 24 other tissues See more Orthologs mouse all
DIPK2B, Official Symbol DIPK2Bprovided by HGNC Official Full Name divergent protein kinase domain 2Bprovided by HGNC Primary source HGNC:HGNC:25866 See related Ensembl:ENSG00000147113 MIM:300959; AllianceGenome:HGNC:25866 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 DIA1R; CXorf36; PRO3743; EPQL1862; bA435K1.1; 4930578C19Rik Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 14.6), fat (RPKM 13.7) and 19 other tissues See more Orthologs mouse all
DIRAS1, Official Symbol DIRAS1provided by HGNC Official Full Name DIRAS family GTPase 1provided by HGNC Primary source HGNC:HGNC:19127 See related Ensembl:ENSG00000176490 MIM:607862; AllianceGenome:HGNC:19127 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 RIG; GBTS1; Di-Ras1 Summary DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] Expression Biased expression in brain (RPKM 26.6), heart (RPKM 24.7) and 6 other tissues See more Orthologs mouse all
DIRAS2, Official Symbol DIRAS2provided by HGNC Official Full Name DIRAS family GTPase 2provided by HGNC Primary source HGNC:HGNC:19323 See related Ensembl:ENSG00000165023 MIM:607863; AllianceGenome:HGNC:19323 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 Di-Ras2 Summary DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] Expression Biased expression in brain (RPKM 52.9) and gall bladder (RPKM 3.4) See more Orthologs mouse all
DIRAS3, Official Symbol DIRAS3provided by HGNC Official Full Name DIRAS family GTPase 3provided by HGNC Primary source HGNC:HGNC:687 See related Ensembl:ENSG00000162595 MIM:605193; AllianceGenome:HGNC:687 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 ARHI; NOEY2 Summary This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015] Expression Biased expression in ovary (RPKM 20.7), adrenal (RPKM 6.9) and 11 other tissues See more Orthologs all
DIRC3, Official Symbol DIRC3provided by HGNC Official Full Name disrupted in renal carcinoma 3provided by HGNC Primary source HGNC:HGNC:17805 See related MIM:608262; AllianceGenome:HGNC:17805 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DIRC3-AS1, Official Symbol DIRC3-AS1provided by HGNC Official Full Name DIRC3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50636 See related AllianceGenome:HGNC:50636 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DIS3, Official Symbol DIS3provided by HGNC Official Full Name DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonucleaseprovided by HGNC Primary source HGNC:HGNC:20604 See related Ensembl:ENSG00000083520 MIM:607533; AllianceGenome:HGNC:20604 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 RRP44; dis3p; EXOSC11; KIAA1008; 2810028N01Rik Summary Enables 3'-5'-exoribonuclease activity; endonuclease activity; and guanyl-nucleotide exchange factor activity. Involved in CUT catabolic process and rRNA catabolic process. Located in cytosol and nucleoplasm. Part of nuclear exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
DIS3L, Official Symbol DIS3Lprovided by HGNC Official Full Name DIS3 like exosome 3'-5' exoribonucleaseprovided by HGNC Primary source HGNC:HGNC:28698 See related Ensembl:ENSG00000166938 MIM:614183; AllianceGenome:HGNC:28698 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 DIS3L1 Summary The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016] Expression Ubiquitous expression in thyroid (RPKM 7.4), testis (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
DIS3L2, Official Symbol DIS3L2provided by HGNC Official Full Name DIS3 like 3'-5' exoribonuclease 2provided by HGNC Primary source HGNC:HGNC:28648 See related Ensembl:ENSG00000144535 MIM:614184; AllianceGenome:HGNC:28648 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 FAM6A; PRLMNS; hDIS3L2 Summary The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
DIS3L2P1, Official Symbol DIS3L2P1provided by HGNC Official Full Name DIS3 like 3'-5' exoribonuclease 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:14021 See related Ensembl:ENSG00000223788 AllianceGenome:HGNC:14021 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 FAM6B; DIS3L2P
DISC1, Official Symbol DISC1provided by HGNC Official Full Name DISC1 scaffold proteinprovided by HGNC Primary source HGNC:HGNC:2888 See related Ensembl:ENSG00000162946 MIM:605210; AllianceGenome:HGNC:2888 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 SCZD9; C1orf136 Summary This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 2.1), ovary (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
DISC1-IT1, Official Symbol DISC1-IT1provided by HGNC Official Full Name DISC1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41325 See related Ensembl:ENSG00000226758 AllianceGenome:HGNC:41325 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DISC1FP1, Official Symbol DISC1FP1provided by HGNC Official Full Name DISC1 fusion partner 1provided by HGNC Primary source HGNC:HGNC:33625 See related Ensembl:ENSG00000261645 AllianceGenome:HGNC:33625 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Boymaw Expression Low expression observed in reference dataset See more
DISC2, Official Symbol DISC2provided by HGNC Official Full Name disrupted in schizophrenia 2provided by HGNC Primary source HGNC:HGNC:2889 See related MIM:606271; AllianceGenome:HGNC:2889 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DISC1OS; DISC1-AS1; NCRNA00015 Summary DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002]
DISP1, Official Symbol DISP1provided by HGNC Official Full Name dispatched RND transporter family member 1provided by HGNC Primary source HGNC:HGNC:19711 See related Ensembl:ENSG00000154309 MIM:607502; AllianceGenome:HGNC:19711 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 DISPA Summary The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 5.0), testis (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
DISP2, Official Symbol DISP2provided by HGNC Official Full Name dispatched RND transporter family member 2provided by HGNC Primary source HGNC:HGNC:19712 See related Ensembl:ENSG00000140323 MIM:607503; AllianceGenome:HGNC:19712 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 DISPB; C15orf36; HsT16908; LINC00594 Summary This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation. [provided by RefSeq, Jan 2017] Expression Biased expression in brain (RPKM 3.0), small intestine (RPKM 2.9) and 9 other tissues See more Orthologs mouse all
DISP3, Official Symbol DISP3provided by HGNC Official Full Name dispatched RND transporter family member 3provided by HGNC Primary source HGNC:HGNC:29251 See related Ensembl:ENSG00000204624 MIM:611251; AllianceGenome:HGNC:29251 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 PTCHD2 Summary Involved in negative regulation of neuron differentiation; positive regulation of lipid metabolic process; and positive regulation of neural precursor cell proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.6), testis (RPKM 1.4) and 1 other tissue See more Orthologs mouse all