Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91
Gene name Gene Name - the full gene name approved by the HGNC.
Activin A receptor type 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACVR1B
Synonyms (NCBI Gene) Gene synonyms aliases
ACTRIB, ACVRLK4, ALK4, SKR2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 heter
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906389 GATGA>- Pathogenic Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555162597 ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCT Pathogenic Splice donor variant, genic downstream transcript variant, intron variant, 3 prime UTR variant, terminator codon variant, downstream transcript variant, coding sequence variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003830 hsa-miR-24-3p Western blot, Luciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Western blot, Luciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Western blot, Luciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Western blot, Luciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Review 20029422
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 11117535
GO:0000166 Function Nucleotide binding IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001942 Process Hair follicle development IEA
GO:0004672 Function Protein kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601300 172 ENSG00000135503
Protein
UniProt ID P36896
Protein name Activin receptor type-1B (EC 2.7.11.30) (Activin receptor type IB) (ACTR-IB) (Activin receptor-like kinase 4) (ALK-4) (Serine/threonine-protein kinase receptor R2) (SKR2)
Protein function Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many
PDB 7MRZ , 7OLY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01064 Activin_recp 32 105 Activin types I and II receptor domain Domain
PF08515 TGF_beta_GS 178 205 Transforming growth factor beta type I GS-motif Family
PF00069 Pkinase 207 494 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver.
Sequence
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
  Signaling by Activin
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Adenocarcinoma Adenocarcinoma N/A N/A GWAS
Colorectal Cancer Colorectal cancer These studies showed that Acvr1b, Acvr2a, and Arid2 could function as tumor suppressor genes (TSGs) in CRC and uncovered a role for Trp53 in tumor metastasis. 31300537 CBGDA
Neuroticism Neuroticism N/A N/A GWAS
Pancreatic Neoplasm malignant pancreatic neoplasm N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29522538
Asthma Associate 38375886
Biliary Tract Neoplasms Associate 37341068
Colonic Diseases Associate 28179590
Colorectal Neoplasms Associate 24696849
Embolism Fat Associate 37963137
Emphysema Associate 30335480
Esophageal Squamous Cell Carcinoma Associate 33457096
Inflammation Inhibit 29367682
Intervertebral Disc Degeneration Associate 35840955