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ACVR1B (activin A receptor type 1B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91
Gene nameGene Name - the full gene name approved by the HGNC.
Activin A receptor type 1B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ACVR1B
SynonymsGene synonyms aliases
ACTRIB, ACVRLK4, ALK4, SKR2
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0001701 Process In utero embryonic development IEA
GO:0001942 Process Hair follicle development IEA
GO:0004674 Function Protein serine/threonine kinase activity EXP 11389842
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 505
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
  Signaling by Activin
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 26732429
Lung carcinoma Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 26732429
Unknown
Disease name Disease term dbSNP ID References
Pancreatic carcinoma Pancreatic carcinoma

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