ACVR1B (activin A receptor type 1B)

2003-02-01  

Identity

HGNC
ACVR1B
LOCATION
12q13.13
LOCUSID
91
ALIAS
ACTRIB,ACVRLK4,ALK4,SKR2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91
MIM: 601300
HGNC: 172
Ensembl: ENSG00000135503

Variants:

dbSNP: 91
ClinVar: 91
TCGA: ENSG00000135503
COSMIC: ACVR1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135503ENST00000257963P36896
ENSG00000135503ENST00000415850P36896
ENSG00000135503ENST00000426655P36896
ENSG00000135503ENST00000536420F5H5Q2
ENSG00000135503ENST00000541224P36896
ENSG00000135503ENST00000542485P36896

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
TGF-beta signaling pathwayKEGGko04350
Cytokine-cytokine receptor interactionKEGGhsa04060
TGF-beta signaling pathwayKEGGhsa04350
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Activin signalingKEGGhsa_M00681
Activin signalingKEGGM00681
Signal TransductionREACTOMER-HSA-162582
Signaling by ActivinREACTOMER-HSA-1502540
Developmental BiologyREACTOMER-HSA-1266738
Signaling by NODALREACTOMER-HSA-1181150
Regulation of signaling by NODALREACTOMER-HSA-1433617

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364038562023Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors.2
370205442023Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation.0
364038562023Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors.2
370205442023Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation.0
353231082022Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration.6
353231082022Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration.6
332308892021Activin A increases human trophoblast invasion by upregulating integrin β1 through ALK4.14
346660562021Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population.1
332308892021Activin A increases human trophoblast invasion by upregulating integrin β1 through ALK4.14
346660562021Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population.1
319824782020ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.3
319903472020Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.9
333429362020[Involvement of Notch1 and ALK4/5 Signaling Pathways in Renal Tubular Cell Death: Their Application to Clarification of Cadmium Toxicity].0
319824782020ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.3
319903472020Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.9

Citation

Dessen P

ACVR1B (activin A receptor type 1B)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/565