psui3905/ncbi_genes_summary huggingface dataset:
MTPN, Official Symbol MTPNprovided by HGNC Official Full Name myotrophinprovided by HGNC Primary source HGNC:HGNC:15667 See related Ensembl:ENSG00000105887 MIM:606484; AllianceGenome:HGNC:15667 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 V-1; GCDP Summary The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 74.6), esophagus (RPKM 68.4) and 24 other tissues See more Orthologs mouse all
MTR, Official Symbol MTRprovided by HGNC Official Full Name 5-methyltetrahydrofolate-homocysteine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:7468 See related Ensembl:ENSG00000116984 MIM:156570; AllianceGenome:HGNC:7468 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 MS; HMAG; cblG Summary This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
MTRES1, Official Symbol MTRES1provided by HGNC Official Full Name mitochondrial transcription rescue factor 1provided by HGNC Primary source HGNC:HGNC:17971 See related Ensembl:ENSG00000130349 MIM:618583; AllianceGenome:HGNC:17971 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 PRED31; HSPC230; C6orf203 Summary Enables ribosomal large subunit binding activity and tRNA binding activity. Involved in regulation of mitochondrial transcription and rescue of stalled ribosome. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 9.2), kidney (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
MTRES1P1, Official Symbol MTRES1P1provided by HGNC Official Full Name MTRES1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54502 See related Ensembl:ENSG00000220181 AllianceGenome:HGNC:54502 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTREX, Official Symbol MTREXprovided by HGNC Official Full Name Mtr4 exosome RNA helicaseprovided by HGNC Primary source HGNC:HGNC:18734 See related Ensembl:ENSG00000039123 MIM:618122; AllianceGenome:HGNC:18734 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 Dob1; Mtr4; SKIV2L2; fSAP118; KIAA0052 Summary Enables ATP binding activity and RNA helicase activity. Involved in RNA catabolic process; cellular response to DNA damage stimulus; and maturation of 5.8S rRNA. Located in nucleoplasm. Part of TRAMP complex and catalytic step 2 spliceosome. Colocalizes with nuclear exosome (RNase complex). Biomarker of amyotrophic lateral sclerosis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 29.9), gall bladder (RPKM 23.3) and 25 other tissues See more Orthologs mouse all
MTRF1, Official Symbol MTRF1provided by HGNC Official Full Name mitochondrial translation release factor 1provided by HGNC Primary source HGNC:HGNC:7469 See related Ensembl:ENSG00000120662 MIM:604601; AllianceGenome:HGNC:7469 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 RF1; MRF1; MTTRF1 Summary The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 2.7), lymph node (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
MTRF1L, Official Symbol MTRF1Lprovided by HGNC Official Full Name mitochondrial translation release factor 1 likeprovided by HGNC Primary source HGNC:HGNC:21051 See related Ensembl:ENSG00000112031 MIM:613542; AllianceGenome:HGNC:21051 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 MRF1L; HMRF1L; mtRF1a Summary The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] Expression Ubiquitous expression in thyroid (RPKM 3.9), brain (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
MTRF1LP1, Official Symbol MTRF1LP1provided by HGNC Official Full Name mitochondrial translational release factor 1 like pseudogene 1provided by HGNC Primary source HGNC:HGNC:50611 See related Ensembl:ENSG00000256091 AllianceGenome:HGNC:50611 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MTRNR2L1, Official Symbol MTRNR2L1provided by HGNC Official Full Name MT-RNR2 like 1 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37155 See related MIM:616985; AllianceGenome:HGNC:37155 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 HN1 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L10, Official Symbol MTRNR2L10provided by HGNC Official Full Name MT-RNR2 like 10 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37167 See related AllianceGenome:HGNC:37167 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 HN10 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L11, Official Symbol MTRNR2L11provided by HGNC Official Full Name MT-RNR2 like 11 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37168 See related AllianceGenome:HGNC:37168 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 HN11 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [14 Oct 2021]
MTRNR2L12, Official Symbol MTRNR2L12provided by HGNC Official Full Name MT-RNR2 like 12 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37169 See related AllianceGenome:HGNC:37169 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 HN12 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [14 Oct 2021]
MTRNR2L13, Official Symbol MTRNR2L13provided by HGNC Official Full Name MT-RNR2 like 13 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37170 See related AllianceGenome:HGNC:37170 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 HN13 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [14 Oct 2021]
MTRNR2L2, Official Symbol MTRNR2L2provided by HGNC Official Full Name MT-RNR2 like 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37156 See related AllianceGenome:HGNC:37156 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 HN2 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L3, Official Symbol MTRNR2L3provided by HGNC Official Full Name MT-RNR2 like 3 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37157 See related AllianceGenome:HGNC:37157 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 HN3 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L4, Official Symbol MTRNR2L4provided by HGNC Official Full Name MT-RNR2 like 4 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37161 See related AllianceGenome:HGNC:37161 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 HN4 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L5, Official Symbol MTRNR2L5provided by HGNC Official Full Name MT-RNR2 like 5 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37162 See related AllianceGenome:HGNC:37162 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 HN5 Summary Predicted to enable receptor antagonist activity. Involved in cellular response to staurosporine; negative regulation of execution phase of apoptosis; and negative regulation of mitochondrial membrane permeability involved in apoptotic process. Predicted to be located in extracellular region and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L6, Official Symbol MTRNR2L6provided by HGNC Official Full Name MT-RNR2 like 6 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37163 See related AllianceGenome:HGNC:37163 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 HN6 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L7, Official Symbol MTRNR2L7provided by HGNC Official Full Name MT-RNR2 like 7 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37164 See related AllianceGenome:HGNC:37164 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 HN7 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015] Orthologs all
MTRNR2L8, Official Symbol MTRNR2L8provided by HGNC Official Full Name MT-RNR2 like 8 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37165 See related AllianceGenome:HGNC:37165 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 HN8 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015]
MTRNR2L9, Official Symbol MTRNR2L9provided by HGNC Official Full Name MT-RNR2 like 9 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37166 See related AllianceGenome:HGNC:37166 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 HN9 Summary Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015]
MTRR, Official Symbol MTRRprovided by HGNC Official Full Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductaseprovided by HGNC Primary source HGNC:HGNC:7473 See related Ensembl:ENSG00000124275 MIM:602568; AllianceGenome:HGNC:7473 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 MSR; cblE Summary This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in lung (RPKM 14.2), kidney (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
MTSS1, Official Symbol MTSS1provided by HGNC Official Full Name MTSS I-BAR domain containing 1provided by HGNC Primary source HGNC:HGNC:20443 See related Ensembl:ENSG00000170873 MIM:608486; AllianceGenome:HGNC:20443 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 MIM; MIMA; MIMB Summary Enables actin monomer binding activity; identical protein binding activity; and signaling receptor binding activity. Predicted to be involved in cellular response to fluid shear stress; negative regulation of epithelial cell proliferation; and urogenital system development. Predicted to act upstream of or within several processes, including actin filament polymerization; adherens junction maintenance; and magnesium ion homeostasis. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 5.7), adrenal (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
MTSS2, Official Symbol MTSS2provided by HGNC Official Full Name MTSS I-BAR domain containing 2provided by HGNC Primary source HGNC:HGNC:25094 See related Ensembl:ENSG00000132613 MIM:616951; AllianceGenome:HGNC:25094 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 ABBA; ABBA1; IDDOF; ABBA-1; MTSS1L Summary Enables GTPase activator activity and small GTPase binding activity. Involved in activation of GTPase activity and cellular response to platelet-derived growth factor stimulus. Located in ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 49.9), endometrium (RPKM 14.9) and 19 other tissues See more Orthologs mouse all
MTTP, Official Symbol MTTPprovided by HGNC Official Full Name microsomal triglyceride transfer proteinprovided by HGNC Primary source HGNC:HGNC:7467 See related Ensembl:ENSG00000138823 MIM:157147; AllianceGenome:HGNC:7467 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 ABL; MTP Summary MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 140.0), duodenum (RPKM 122.9) and 1 other tissue See more Orthologs mouse all
MTURN, Official Symbol MTURNprovided by HGNC Official Full Name maturin, neural progenitor differentiation regulator homologprovided by HGNC Primary source HGNC:HGNC:25457 See related Ensembl:ENSG00000180354 MIM:620491; AllianceGenome:HGNC:25457 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 Ells1; C7orf41 Summary Involved in negative regulation of NF-kappaB transcription factor activity; positive regulation of MAPK cascade; and positive regulation of megakaryocyte differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 152.3), fat (RPKM 61.0) and 8 other tissues See more Orthologs mouse all
MTUS1, Official Symbol MTUS1provided by HGNC Official Full Name microtubule associated scaffold protein 1provided by HGNC Primary source HGNC:HGNC:29789 See related Ensembl:ENSG00000129422 MIM:609589; AllianceGenome:HGNC:29789 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 ATBP; ATIP; ICIS; MP44; ATIP3; MTSG1 Summary This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 12.1), ovary (RPKM 11.4) and 24 other tissues See more Orthologs mouse all
MTUS2, Official Symbol MTUS2provided by HGNC Official Full Name microtubule associated scaffold protein 2provided by HGNC Primary source HGNC:HGNC:20595 See related Ensembl:ENSG00000132938 MIM:619358; AllianceGenome:HGNC:20595 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 ICIS; CAZIP; TIP150; KIAA0774 Summary Enables microtubule binding activity and protein homodimerization activity. Part of nucleus. Colocalizes with centrosome and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 7.4), ovary (RPKM 1.3) and 4 other tissues See more Orthologs mouse all
MTX1, Official Symbol MTX1provided by HGNC Official Full Name metaxin 1provided by HGNC Primary source HGNC:HGNC:7504 See related Ensembl:ENSG00000173171 MIM:600605; AllianceGenome:HGNC:7504 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 MTX; MTXN Summary Predicted to be involved in mitochondrion organization. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
MTX2, Official Symbol MTX2provided by HGNC Official Full Name metaxin 2provided by HGNC Primary source HGNC:HGNC:7506 See related Ensembl:ENSG00000128654 MIM:608555; AllianceGenome:HGNC:7506 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 MDPS; metaxin-2 Summary The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in testis (RPKM 27.0), adrenal (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
MTX3, Official Symbol MTX3provided by HGNC Official Full Name metaxin 3provided by HGNC Primary source HGNC:HGNC:24812 See related Ensembl:ENSG00000177034 MIM:619336; AllianceGenome:HGNC:24812 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 be involved in mitochondrion organization. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
MUC1, Official Symbol MUC1provided by HGNC Official Full Name mucin 1, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:7508 See related Ensembl:ENSG00000185499 MIM:158340; AllianceGenome:HGNC:7508 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 EMA; MCD; PEM; PUM; KL-6; MAM6; MCKD; PEMT; CD227; H23AG; MCKD1; MUC-1; ADMCKD; ADTKD2; Ca15-3; ADMCKD1; CA 15-3; MUC-1/X; MUC1/ZD; MUC-1/SEC Summary This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] Annotation information Annotation category: suggests misassembly Expression Biased expression in stomach (RPKM 319.2), lung (RPKM 118.1) and 6 other tissues See more Orthologs mouse all
MUC12, Official Symbol MUC12provided by HGNC Official Full Name mucin 12, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:7510 See related Ensembl:ENSG00000205277 MIM:604609; AllianceGenome:HGNC:7510 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 MUC11; MUC-11; MUC-12 Summary This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017] Expression Restricted expression toward colon (RPKM 48.0) See more Orthologs all
MUC12-AS1, Official Symbol MUC12-AS1provided by HGNC Official Full Name MUC12 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40382 See related Ensembl:ENSG00000227053 AllianceGenome:HGNC:40382 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 colon (RPKM 7.6), small intestine (RPKM 1.4) and 9 other tissues See more
MUC13, Official Symbol MUC13provided by HGNC Official Full Name mucin 13, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:7511 See related Ensembl:ENSG00000173702 MIM:612181; AllianceGenome:HGNC:7511 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 DRCC1; MUC-13 Summary Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008] Expression Biased expression in duodenum (RPKM 317.3), small intestine (RPKM 271.9) and 4 other tissues See more Orthologs mouse all
MUC15, Official Symbol MUC15provided by HGNC Official Full Name mucin 15, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:14956 See related Ensembl:ENSG00000169550 MIM:608566; AllianceGenome:HGNC:14956 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 PAS3; MUC-15; PASIII Summary Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 49.6), skin (RPKM 13.7) and 5 other tissues See more Orthologs mouse all
MUC16, Official Symbol MUC16provided by HGNC Official Full Name mucin 16, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:15582 See related Ensembl:ENSG00000181143 MIM:606154; AllianceGenome:HGNC:15582 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 CA125 Summary This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017] Annotation information Annotation category: suggests misassembly Annotation category: partial on reference assembly Expression Low expression observed in reference dataset See more Orthologs mouse all
MUC17, Official Symbol MUC17provided by HGNC Official Full Name mucin 17, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:16800 See related Ensembl:ENSG00000169876 MIM:608424; AllianceGenome:HGNC:16800 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 MUC3; MUC-3; MUC-17 Summary The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015] Expression Biased expression in small intestine (RPKM 22.6), duodenum (RPKM 12.5) and 1 other tissue See more Orthologs mouse all
MUC19, Official Symbol MUC19provided by HGNC Official Full Name mucin 19, oligomericprovided by HGNC Primary source HGNC:HGNC:14362 See related Ensembl:ENSG00000205592 MIM:612170; AllianceGenome:HGNC:14362 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 MUC-19 Summary This gene encodes a member of the gel-forming mucin protein family. Mucin family members are glycoproteins that have tandem repeats which are extensively O-glycosylated. The structural features of mucin proteins are responsible for the gel-like properties of mucus. The encoded protein may be involved in disruption of the ocular surface in Sjogren syndrome. [provided by RefSeq, Apr 2014] Annotation information Annotation category: suggests misassembly Annotation category: partial on reference assembly Expression Low expression observed in reference dataset See more Orthologs mouse all
MUC2, Official Symbol MUC2provided by HGNC Official Full Name mucin 2, oligomeric mucus/gel-formingprovided by HGNC Primary source HGNC:HGNC:7512 See related Ensembl:ENSG00000198788 MIM:158370; AllianceGenome:HGNC:7512 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 MLP; SMUC; MUC-2 Summary This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016] Annotation information Annotation category: suggests misassembly Expression Biased expression in colon (RPKM 65.6), small intestine (RPKM 19.0) and 2 other tissues See more Orthologs mouse all
MUC20, Official Symbol MUC20provided by HGNC Official Full Name mucin 20, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:23282 See related Ensembl:ENSG00000176945 MIM:610360; AllianceGenome:HGNC:23282 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 MUC-20 Summary This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] Expression Broad expression in gall bladder (RPKM 28.1), colon (RPKM 25.9) and 17 other tissues See more Orthologs mouse all
MUC21, Official Symbol MUC21provided by HGNC Official Full Name mucin 21, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:21661 See related Ensembl:ENSG00000204544 MIM:616991; AllianceGenome:HGNC:21661 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 MUC-21; KMQK697; C6orf205 Summary This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017] Expression Restricted expression toward esophagus (RPKM 485.6) See more Orthologs mouse all
MUC22, Official Symbol MUC22provided by HGNC Official Full Name mucin 22provided by HGNC Primary source HGNC:HGNC:39755 See related Ensembl:ENSG00000261272 MIM:613917; AllianceGenome:HGNC:39755 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 PBMUCL1 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 9.7) See more Orthologs all
MUC3A, Official Symbol MUC3Aprovided by HGNC Official Full Name mucin 3A, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:7513 See related Ensembl:ENSG00000169894 MIM:158371; AllianceGenome:HGNC:7513 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 MUC3; MUC-3A Summary The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] Annotation information Annotation category: suggests misassembly Expression Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 15.8) and 6 other tissues See more Orthologs mouse all
MUC4, Official Symbol MUC4provided by HGNC Official Full Name mucin 4, cell surface associatedprovided by HGNC Primary source HGNC:HGNC:7514 See related Ensembl:ENSG00000145113 MIM:158372; AllianceGenome:HGNC:7514 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 ASGP; MUC-4; HSA276359 Summary The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] Annotation information Annotation category: suggests misassembly Expression Biased expression in colon (RPKM 10.3), esophagus (RPKM 2.1) and 4 other tissues See more Orthologs mouse all
MUC5AC, Official Symbol MUC5ACprovided by HGNC Official Full Name mucin 5AC, oligomeric mucus/gel-formingprovided by HGNC Primary source HGNC:HGNC:7515 See related Ensembl:ENSG00000215182 MIM:158373; AllianceGenome:HGNC:7515 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 TBM; leB; MUC5; mucin Summary Predicted to be an extracellular matrix structural constituent. Involved in phosphatidylinositol-mediated signaling. Located in cytoplasm; extracellular space; and mucus layer. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogren's syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple). [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Restricted expression toward stomach (RPKM 226.0) See more Orthologs mouse all
MUC5B, Official Symbol MUC5Bprovided by HGNC Official Full Name mucin 5B, oligomeric mucus/gel-formingprovided by HGNC Primary source HGNC:HGNC:7516 See related Ensembl:ENSG00000117983 MIM:600770; AllianceGenome:HGNC:7516 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 MG1; MUC5; MUC9; MUC-5B Summary This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010] Expression Biased expression in gall bladder (RPKM 56.3), colon (RPKM 19.6) and 3 other tissues See more Orthologs mouse all
MUC5B-AS1, Official Symbol MUC5B-AS1provided by HGNC Official Full Name MUC5B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53936 See related Ensembl:ENSG00000255177 AllianceGenome:HGNC:53936 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
MUC6, Official Symbol MUC6provided by HGNC Official Full Name mucin 6, oligomeric mucus/gel-formingprovided by HGNC Primary source HGNC:HGNC:7517 See related Ensembl:ENSG00000184956 MIM:158374; AllianceGenome:HGNC:7517 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 MUC-6 Summary This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016] Annotation information Annotation category: suggests misassembly Expression Biased expression in stomach (RPKM 174.6) and duodenum (RPKM 41.3) See more Orthologs mouse all