ACVR1B
Summary: This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:601300 Ensembl IDEnsembl:ENSG00000135503 HGNC IDHGNC:HGNC:172 PHARMGKB IDPA24493 Map Location12q13.13 |
GO terms in ACVR1B
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | EXP | GO:0004674 | protein serine/threonine kinase activity |
MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
MF | TAS | GO:0004674 | protein serine/threonine kinase activity |
MF | NAS | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
MF | IBA | GO:0005025 | transforming growth factor beta receptor activity, type I |
Gene expression in normal tissue: ACVR1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACVR1B
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Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
wikipathways | WP2849 | Hematopoietic Stem Cell Differentiation |
reactome | R-HSA-1181150 | Signaling by NODAL |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in ACVR1B
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |