Gene Gene information from NCBI Gene database.
Entrez ID 91
Gene name Activin A receptor type 1B
Gene symbol ACVR1B
Synonyms (NCBI Gene)
ACTRIBACVRLK4ALK4SKR2
Chromosome 12
Chromosome location 12q13.13
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 heter
SNPs SNP information provided by dbSNP.
2
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.
1043
miRTarBase ID miRNA Experiments Reference
MIRT003830 hsa-miR-24-3p Western blotLuciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Western blotLuciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Western blotLuciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Western blotLuciferase reporter assay 17906079
MIRT003830 hsa-miR-24-3p Review 20029422
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601300 172 ENSG00000135503
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Carcinoma of pancreas Pathogenic rs387906389, rs1555162597 RCV000008710
RCV000008711
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dextro-looped transposition of the great arteries Pathogenic rs2120691810 RCV001528203
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GENERALISED EPILEPSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 26408346
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 26732429
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27237034
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10810314
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27807906
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 38375886 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28639003, 30369314
★☆☆☆☆
Found in Text Mining only
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 37341068 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30323631
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14584041
★☆☆☆☆
Found in Text Mining only