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Aliases for ACVR1B Gene

Aliases for ACVR1B Gene

  • Activin A Receptor Type 1B 2 3 5
  • Serine/Threonine-Protein Kinase Receptor R2 3 4
  • Activin Receptor-Like Kinase 4 3 4
  • Activin A Receptor, Type IB 2 3
  • EC 2.7.11.30 4 61
  • ACVRLK4 3 4
  • ALK4 3 4
  • SKR2 3 4
  • Activin A Receptor, Type II-Like Kinase 4 3
  • Activin Receptor Type-1B 3
  • Activin Receptor Type IB 4
  • EC 2.7.11 61
  • ACTR-IB 4
  • ACTRIB 3
  • ALK-4 4

External Ids for ACVR1B Gene

Previous HGNC Symbols for ACVR1B Gene

  • ACVRLK4

Previous GeneCards Identifiers for ACVR1B Gene

  • GC12M052557
  • GC12P052375
  • GC12P052062
  • GC12P050631
  • GC12P050494
  • GC12P049378

Summaries for ACVR1B Gene

Entrez Gene Summary for ACVR1B 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 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]

GeneCards Summary for ACVR1B Gene

ACVR1B (Activin A Receptor Type 1B) is a Protein Coding gene. Diseases associated with ACVR1B include Pancreatic Cancer. Among its related pathways are Signaling by NODAL and Human Embryonic Stem Cell Pluripotency. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR1.

UniProtKB/Swiss-Prot for ACVR1B Gene

  • 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 physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.

Tocris Summary for ACVR1B Gene

  • Activin receptors transduce signals carried by the TGF-beta family of ligands. Such ligands include activin and bone morphogenetic proteins (BMPs). Members of this family are involved in a range of processes, including embryogenesis and tissue homeostasis.

Gene Wiki entry for ACVR1B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVR1B Gene

Genomics for ACVR1B Gene

Regulatory Elements for ACVR1B Gene

Enhancers for ACVR1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F051975 1 Ensembl ENCODE 13.1 +25.4 25383 2.5 ELF3 HDAC1 ATF1 ARID4B THRB RAD21 RARA GATA2 CREM ZNF362 ACVR1B GRASP NR4A1 ACVRL1 ANKRD33 ENSG00000260473 GC12P051989
GH12F051969 1.1 FANTOM5 Ensembl ENCODE 13 +20.9 20935 5.6 PKNOX1 ATF1 ARNT ZNF133 ZNF2 GTF3C2 ZNF121 ELK1 GATA2 ZNF143 NR4A1 HNRNPA3P10 GRASP ACVR1B BIN2 ACVRL1 ANKRD33 GC12P051989
GH12F051980 0.8 ENCODE 11.8 +28.8 28845 0.2 HDGF CTCF ARID4B RAD21 RFX5 ZFHX2 ZNF366 PATZ1 ZNF143 SMC3 GRASP NR4A1 ACVRL1 ANKRD33 ACVR1B GC12P051989
GH12F051951 0.4 ENCODE 6.6 +2.3 2298 5.8 ATF1 PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ELK1 KLF7 ACVR1B GC12P051989
GH12F052163 0.9 FANTOM5 Ensembl ENCODE 3.3 +213.3 213263 3.1 SIN3A ZNF48 ZNF2 ZNF143 DEK ZNF263 SP3 YY2 TSHZ1 REST KRT80 KRT81 KRT7 KRT86 KRT87P KRT83 KRT84 ACVR1B NR4A1 GC12M052162
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ACVR1B on UCSC Golden Path with GeneCards custom track

Promoters for ACVR1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001463536 634 3000 SIN3A ZNF2 GLIS2 ELK1 KLF7 FOS SP3 REST CBX8 SMARCA4

Genomic Location for ACVR1B Gene

Chromosome:
12
Start:
51,951,667 bp from pter
End:
51,997,079 bp from pter
Size:
45,413 bases
Orientation:
Plus strand

Genomic View for ACVR1B Gene

Genes around ACVR1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1B Gene

Proteins for ACVR1B Gene

  • Protein details for ACVR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36896-ACV1B_HUMAN
    Recommended name:
    Activin receptor type-1B
    Protein Accession:
    P36896
    Secondary Accessions:
    • B7Z5L8
    • B7Z5W5
    • Q15479
    • Q15480
    • Q15481
    • Q15482

    Protein attributes for ACVR1B Gene

    Size:
    505 amino acids
    Molecular mass:
    56807 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Interacts with TDP2 (By similarity). Interacts with AIP1, FKBP1A, IGSF1, TDGF1, SMAD2, SMAD3 and SMAD7.

    Alternative splice isoforms for ACVR1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACVR1B Gene

Selected DME Specific Peptides for ACVR1B Gene

P36896:
  • HRDLKSKNILVKKNG
  • GMIKLALS
  • RHENILGFIAAD
  • RVGTKRYM
  • IADLGLA
  • ARTIVLQE
  • VAVKIFSSR
  • IADLGLAVRHD
  • IGKGRFGEVWRG
  • SGSGSGLP
  • ASGLAHLH
  • TDTIDIAPN
  • MRECWYANGAARLTALRIKKTLSQLS
  • RYMAPEVL
  • YMAPEVL

Post-translational modifications for ACVR1B Gene

  • Autophosphorylated. Phosphorylated by activin receptor type-2 (ACVR2A or ACVR2B) in response to activin-binding at serine and threonine residues in the GS domain. Phosphorylation of ACVR1B by activin receptor type-2 regulates association with SMAD7.
  • Ubiquitinated.
  • Ubiquitinated. Level of ubiquitination is regulated by the SMAD7-SMURF1 complex.
  • Glycosylation at Asn 43
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACVR1B (Activin RIB/ALK-4)
  • Cloud-Clone Corp. Antibodies for ACVR1B

Domains & Families for ACVR1B Gene

Graphical View of Domain Structure for InterPro Entry

P36896

UniProtKB/Swiss-Prot:

ACV1B_HUMAN :
  • The GS domain is a 30-amino-acid sequence adjacent to the N-terminal boundary of the kinase domain and highly conserved in all other known type-1 receptors but not in type-2 receptors. The GS domain is the site of activation through phosphorylation by the II receptors.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • The GS domain is a 30-amino-acid sequence adjacent to the N-terminal boundary of the kinase domain and highly conserved in all other known type-1 receptors but not in type-2 receptors. The GS domain is the site of activation through phosphorylation by the II receptors.
  • Contains 1 GS domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with ACVR1B: view

Function for ACVR1B Gene

Molecular function for ACVR1B Gene

GENATLAS Biochemistry:
activin A receptor,type IB
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activin receptor type-2 (ACVR2A or ACVR2B) activates the type-1 receptor through phosphorylation of its regulatory GS domain.
UniProtKB/Swiss-Prot 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 physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.

Enzyme Numbers (IUBMB) for ACVR1B Gene

Gene Ontology (GO) - Molecular Function for ACVR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 9032295
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
genes like me logo Genes that share ontologies with ACVR1B: view
genes like me logo Genes that share phenotypes with ACVR1B: view

Animal Models for ACVR1B Gene

MGI Knock Outs for ACVR1B:

Animal Model Products

miRNA for ACVR1B Gene

miRTarBase miRNAs that target ACVR1B

Clone Products

  • R&D Systems cDNA Clones for ACVR1B (Activin RIB/ALK-4)

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACVR1B Gene

Localization for ACVR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR1B Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACVR1B Gene COMPARTMENTS Subcellular localization image for ACVR1B gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ACVR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9032295
GO:0009986 cell surface IDA 12665502
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ACVR1B: view

Pathways & Interactions for ACVR1B Gene

genes like me logo Genes that share pathways with ACVR1B: view

SIGNOR curated interactions for ACVR1B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ACVR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IDA 11117535
GO:0001701 in utero embryonic development IEA --
GO:0001942 hair follicle development IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 8622651
GO:0006468 protein phosphorylation IDA 12065756
genes like me logo Genes that share ontologies with ACVR1B: view

Drugs & Compounds for ACVR1B Gene

(11) Drugs for ACVR1B Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
Manganese Approved Nutra 34
SB505124 Pharma ALK4/ALK5/ALK7 inhibitor, Selective inhibitor of TGF-betaRI, ALK4 and ALK7 0
SB-505124 hydrochloride Pharma ALK5/ALK4/ALK7 inhibitor in TGF-β/activin signalling,selective 0
Magnesium Nutra 0

(3) Additional Compounds for ACVR1B Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Alantolactone
  • (+)-Alantolactone
  • Alant camphor
  • Alantic anhydride
  • Alantolactone
  • Elecampane camphor
546-43-0
DMH2
1206711-14-9

(5) Tocris Compounds for ACVR1B Gene

Compound Action Cas Number
Alantolactone Antiproliferative; induces activin/Smad3 signaling 546-43-0
DMH-1 Selective ALK2 inhibitor 1206711-16-1
DMH2 Type I BMP receptor inhibitor 1206711-14-9
K 02288 Type 1 BMP receptor inhibitor 1431985-92-0
ML 347 Potent and selective ALK1 and ALK2 inhibitor 1062368-49-3

(2) ApexBio Compounds for ACVR1B Gene

Compound Action Cas Number
SB505124 ALK4/ALK5/ALK7 inhibitor 694433-59-5
SB-505124 hydrochloride ALK5/ALK4/ALK7 inhibitor in TGF-β/activin signalling,selective 356559-13-2
genes like me logo Genes that share compounds with ACVR1B: view

Transcripts for ACVR1B Gene

Unigene Clusters for ACVR1B Gene

Activin A receptor, type IB:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for ACVR1B (Activin RIB/ALK-4)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1B Gene

No ASD Table

Relevant External Links for ACVR1B Gene

GeneLoc Exon Structure for
ACVR1B
ECgene alternative splicing isoforms for
ACVR1B

Expression for ACVR1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACVR1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACVR1B Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACVR1B Gene



Protein tissue co-expression partners for ACVR1B Gene

NURSA nuclear receptor signaling pathways regulating expression of ACVR1B Gene:

ACVR1B

SOURCE GeneReport for Unigene cluster for ACVR1B Gene:

Hs.438918

mRNA Expression by UniProt/SwissProt for ACVR1B Gene:

P36896-ACV1B_HUMAN
Tissue specificity: Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver.
genes like me logo Genes that share expression patterns with ACVR1B: view

Primer Products

No data available for mRNA differential expression in normal tissues for ACVR1B Gene

Orthologs for ACVR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACVR1B 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia ACVR1B 34 35
  • 93.67 (n)
cow
(Bos Taurus)
Mammalia ACVR1B 34 35
  • 92.34 (n)
rat
(Rattus norvegicus)
Mammalia Acvr1b 34
  • 91.22 (n)
mouse
(Mus musculus)
Mammalia Acvr1b 16 35 34
  • 90.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1B 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR1B 34 35
  • 80.4 (n)
lizard
(Anolis carolinensis)
Reptilia ACVR1B 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1b 34
  • 75.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1058 34
zebrafish
(Danio rerio)
Actinopterygii ACVR1B (2 of 2) 35
  • 77 (a)
OneToMany
acvr1b 34 35
  • 74.21 (n)
tarama 34
fruit fly
(Drosophila melanogaster)
Insecta tkv 36
  • 46 (a)
babo 35 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-1 36
  • 42 (a)
sma-6 36
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for ACVR1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACVR1B Gene

ENSEMBL:
Gene Tree for ACVR1B (if available)
TreeFam:
Gene Tree for ACVR1B (if available)

Paralogs for ACVR1B Gene

Paralogs for ACVR1B Gene

(8) SIMAP similar genes for ACVR1B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACVR1B: view

Variants for ACVR1B Gene

Sequence variations from dbSNP and Humsavar for ACVR1B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs387906389 Pathogenic 51,986,840(+) TACTT(-/GATGA)AACCA intron-variant, reference, frameshift-variant
rs10128797 -- 51,976,123(+) TGTGG(A/C)AAGAG intron-variant
rs10540557 -- 51,951,714(+) GGGCT(-/GCG)GCGGC upstream-variant-2KB, cds-indel, utr-variant-5-prime
rs10783486 -- 51,969,002(+) GGACC(A/G)CATCA intron-variant
rs10876222 -- 51,968,695(+) TTGGG(A/T)TCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACVR1B Gene

Variant ID Type Subtype PubMed ID
esv2674142 CNV deletion 23128226
esv2745889 CNV deletion 23290073
esv2745890 CNV deletion 23290073
esv3549212 CNV deletion 23714750
esv5144 CNV loss 18987735
nsv1138135 CNV deletion 24896259
nsv525457 CNV loss 19592680
nsv957296 CNV deletion 24416366

Variation tolerance for ACVR1B Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACVR1B Gene

Human Gene Mutation Database (HGMD)
ACVR1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACVR1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVR1B Gene

Disorders for ACVR1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACVR1B Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pancreatic cancer
  • pancreatic carcinoma, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACV1B_HUMAN
  • Note=ACVRIB is abundantly expressed in systemic sclerosis patient fibroblasts and production of collagen is also induced by activin-A/INHBA. This suggests that the activin/ACRV1B signaling mechanism is involved in systemic sclerosis. {ECO:0000269 PubMed:21377836}.

Relevant External Links for ACVR1B

Genetic Association Database (GAD)
ACVR1B
Human Genome Epidemiology (HuGE) Navigator
ACVR1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVR1B
genes like me logo Genes that share disorders with ACVR1B: view

No data available for Genatlas for ACVR1B Gene

Publications for ACVR1B Gene

  1. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PMID: 8397373) ten Dijke P. … Miyazono K. (Oncogene 1993) 2 3 4 22 64
  2. Activin A induces neuronal differentiation and survival via ALK4 in a SMAD-independent manner in a subpopulation of human neuroblastomas. (PMID: 20226172) Suzuki K. … Ikekita M. (Biochem. Biophys. Res. Commun. 2010) 3 4 22 64
  3. FKBP12 functions as an adaptor of the Smad7-Smurf1 complex on activin type I receptor. (PMID: 16720724) Yamaguchi T. … Sugino H. (J. Mol. Endocrinol. 2006) 3 4 22 64
  4. Activin signaling through type IB activin receptor stimulates aromatase activity in the ovarian granulosa cell-like human granulosa (KGN) cells. (PMID: 12639945) Mukasa C. … Nawata H. (Endocrinology 2003) 3 4 22 64
  5. Identification of a functional binding site for activin on the type I receptor ALK4. (PMID: 12665502) Harrison C.A. … Vale W. (J. Biol. Chem. 2003) 3 4 22 64

Products for ACVR1B Gene

Sources for ACVR1B Gene

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