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 ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins... See more...

Aliases for ACVR1 Gene

Aliases for ACVR1 Gene

  • Activin A Receptor Type 1 2 3 5
  • Serine/Threonine-Protein Kinase Receptor R1 3 4
  • TGF-B Superfamily Receptor Type I 3 4
  • Activin Receptor-Like Kinase 2 3 4
  • Activin A Receptor, Type I 2 3
  • Activin Receptor Type I 3 4
  • Activin Receptor Type-1 3 4
  • EC 2.7.11.30 4 54
  • ACVRLK2 3 4
  • SKR1 3 4
  • Activin A Receptor, Type II-Like Kinase 2 3
  • Hydroxyalkyl-Protein Kinase 3
  • EC 2.7.11 54
  • ACVR1A 3
  • ACTR-I 4
  • ACTRI 3
  • ALK-2 4
  • TSR-I 4
  • ALK2 3
  • TSRI 3
  • FOP 3

External Ids for ACVR1 Gene

Previous HGNC Symbols for ACVR1 Gene

  • ACVRLK2

Previous GeneCards Identifiers for ACVR1 Gene

  • GC02M156524
  • GC02M157121
  • GC02M158557
  • GC02M158795
  • GC02M158418
  • GC02M158301
  • GC02M158594
  • GC02M150478

Summaries for ACVR1 Gene

Entrez Gene Summary for ACVR1 Gene

  • 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 ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

CIViC Summary for ACVR1 Gene

GeneCards Summary for ACVR1 Gene

ACVR1 (Activin A Receptor Type 1) is a Protein Coding gene. Diseases associated with ACVR1 include Fibrodysplasia Ossificans Progressiva and Brain Stem Glioma. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and DREAM Repression and Dynorphin Expression. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is ACVRL1.

UniProtKB/Swiss-Prot Summary for ACVR1 Gene

  • On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).

Gene Wiki entry for ACVR1 Gene

Additional gene information for ACVR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACVR1 Gene

Genomics for ACVR1 Gene

GeneHancer (GH) Regulatory Elements for ACVR1 Gene

Promoters and enhancers for ACVR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J157874 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.2 161 3.8 SP1 ZBTB40 CTCF ZBTB6 RBPJ SMARCE1 NFYC ELF1 HLF L3MBTL2 ACVR1 ENSG00000270557 LOC105373714 UPP2 PTP4A1P1 ENSG00000234584
GH02J157896 Enhancer 0.9 ENCODE 28.9 -23.0 -23007 3.8 ZBTB40 SMARCE1 CC2D1A ELF1 DACH1 TEAD4 GTF2F1 MLLT1 BACH1 CBFA2T2 ACVR1 FAM133DP RNU6-932P RF00026-588 RNU6-436P ENSG00000270557 LOC105373714 UPP2
GH02J157245 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +629.6 629591 4.1 ZNF24 ETV6 RELA POU5F1 BACH1 ZNF687 CREM ZNF639 ZBED1 IKZF1 ACVR1 FAM133DP GALNT5 CDK7P1 lnc-ERMN-3
GH02J157836 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 +36.5 36526 6.6 ZBTB40 SREBF1 MLX RBPJ SMARCE1 CTBP1 NR2F6 MIXL1 ELF1 RAD21 FAM133DP ACVR1 PKP4 ENSG00000234584
GH02J157929 Enhancer 1.1 Ensembl ENCODE 16.7 -54.4 -54390 1.7 SMARCE1 RUNX1 CC2D1A L3MBTL2 MAX DACH1 TEAD4 ZKSCAN8 ZNF148 GTF2F1 FAM133DP ACVR1 CYTIP ACVR1C ENSG00000271320 ENSG00000228937 lnc-ACVR1-2 UPP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACVR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACVR1 gene promoter:
  • Brachyury
  • COMP1
  • FOXL1
  • GATA-3
  • Sox5
  • SRY

Genomic Locations for ACVR1 Gene

Genomic Locations for ACVR1 Gene
chr2:157,736,444-157,875,862
(GRCh38/hg38)
Size:
139,419 bases
Orientation:
Minus strand
chr2:158,592,958-158,732,374
(GRCh37/hg19)
Size:
139,417 bases
Orientation:
Minus strand

Genomic View for ACVR1 Gene

Genes around ACVR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACVR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACVR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVR1 Gene

Proteins for ACVR1 Gene

  • Protein details for ACVR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04771-ACVR1_HUMAN
    Recommended name:
    Activin receptor type-1
    Protein Accession:
    Q04771

    Protein attributes for ACVR1 Gene

    Size:
    509 amino acids
    Molecular mass:
    57153 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with FKBP1A (PubMed:22484487, Ref.7). Interacts with FCHO1 (PubMed:22484487). Interacts with CLU (PubMed:8555189).

    Three dimensional structures from OCA and Proteopedia for ACVR1 Gene

neXtProt entry for ACVR1 Gene

Selected DME Specific Peptides for ACVR1 Gene

Q04771:
  • EYGTIEGLI
  • NILGFIASDMTSR
  • GSGSGLPFLVQRTVARQ
  • HRDLKSKNILVKKNG
  • KVVCVDQQ
  • RVGTKRYM
  • KPAIAHRD
  • IADLGLA
  • QAVECCQG
  • VAVKIFSSR
  • EIFGTQGK
  • RPNIPNRW
  • DCFDSYKRVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYD
  • SGSGSGLP
  • ASGLAHLH
  • VPNDPSFEDM
  • VYQKGCFQVYEQGKMTCKTPPSP
  • LPTKGKSFPG
  • ECVGKGRYGEVWRG
  • SSTQLWLITHYHE
  • QNFHLEVGLIILSVVFAVCL
  • RYMAPEVL
  • YMAPEVL
  • CCIADLGLA

Post-translational modifications for ACVR1 Gene

  • Glycosylation at Asn102
  • Modification sites at PhosphoSitePlus

Antibody Products

Protein Products

Domains & Families for ACVR1 Gene

Gene Families for ACVR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ACVR1 Gene

GenScript: Design optimal peptide antigens:
  • TGF-B superfamily receptor type I (ACVR1_HUMAN)
  • Activin A receptor, type I, isoform CRA_b (D3DPA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q04771

UniProtKB/Swiss-Prot:

ACVR1_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
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 ACVR1: view

Function for ACVR1 Gene

Molecular function for ACVR1 Gene

UniProtKB/Swiss-Prot Function:
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[receptor-protein]-L-threonine + ATP = [receptor-protein]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[receptor-protein]-L-serine + ATP = [receptor-protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;.
GENATLAS Biochemistry:
activin receptor type 1,member of transforming growth factor beta superfamily

Enzyme Numbers (IUBMB) for ACVR1 Gene

Phenotypes From GWAS Catalog for ACVR1 Gene

Gene Ontology (GO) - Molecular Function for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA 19736306
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 8242742
GO:0005024 transforming growth factor beta-activated receptor activity IBA 21873635
genes like me logo Genes that share ontologies with ACVR1: view
genes like me logo Genes that share phenotypes with ACVR1: view

Human Phenotype Ontology for ACVR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACVR1 Gene

MGI Knock Outs for ACVR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACVR1

Clone Products

  • Addgene plasmids for ACVR1

No data available for Transcription Factor Targets and HOMER Transcription for ACVR1 Gene

Localization for ACVR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVR1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACVR1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 2
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA,IBA 8242742
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IBA 21873635
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Pathways & Interactions for ACVR1 Gene

PathCards logo

SuperPathways for ACVR1 Gene

SuperPathway Contained pathways
1 Apoptosis Pathway
2 Akt Signaling
.60
.60
.55
3 PEDF Induced Signaling
.47
4 ALK1 signaling events
5 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with ACVR1: view

Pathways by source for ACVR1 Gene

8 Qiagen pathways for ACVR1 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • BMP Pathway
  • Factors Promoting Cardiogenesis in Vertebrates
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for ACVR1 Gene
1 GeneTex pathway for ACVR1 Gene

SIGNOR curated interactions for ACVR1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ACVR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IMP 9884026
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0001707 mesoderm formation IEA --
genes like me logo Genes that share ontologies with ACVR1: view

Drugs & Compounds for ACVR1 Gene

(13) Drugs for ACVR1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 568
Warfarin Approved Pharma 580
Calcium Approved Nutra 7773

(2) Additional Compounds for ACVR1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0

(2) ApexBio Compounds for ACVR1 Gene

Compound Action Cas Number
DMH-1 Selective BMP ALK2 receptor 1206711-16-1
LDN-193189 ALK inhibitor,potent and selective 1062368-24-4
genes like me logo Genes that share compounds with ACVR1: view

Transcripts for ACVR1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACVR1

Clone Products

  • Addgene plasmids for ACVR1

Alternative Splicing Database (ASD) splice patterns (SP) for ACVR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - -
SP3: - -
SP4: - - -

Relevant External Links for ACVR1 Gene

GeneLoc Exon Structure for
ACVR1
ECgene alternative splicing isoforms for
ACVR1

Expression for ACVR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACVR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACVR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (46.9) and Placenta (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACVR1 Gene



Protein tissue co-expression partners for ACVR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACVR1 Gene:

ACVR1

SOURCE GeneReport for Unigene cluster for ACVR1 Gene:

Hs.470316

mRNA Expression by UniProt/SwissProt for ACVR1 Gene:

Q04771-ACVR1_HUMAN
Tissue specificity: Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.

Evidence on tissue expression from TISSUES for ACVR1 Gene

  • Lung(4.2)
  • Nervous system(2.6)
  • Muscle(2.4)
  • Heart(2.2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACVR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACVR1: view

No data available for mRNA differential expression in normal tissues for ACVR1 Gene

Orthologs for ACVR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACVR1 33 32
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACVR1 33 32
  • 93.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACVR1 33 32
  • 93.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acvr1 17 33 32
  • 90.64 (n)
rat
(Rattus norvegicus)
Mammalia Acvr1 32
  • 89.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACVR1 33
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACVR1 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVR1 33 32
  • 77.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVR1 33
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acvr1 32
  • 73.87 (n)
Str.6508 32
African clawed frog
(Xenopus laevis)
Amphibia xALK-2 32
zebrafish
(Danio rerio)
Actinopterygii acvr1l 33 32
  • 65.61 (n)
OneToOne
alk8 32
fruit fly
(Drosophila melanogaster)
Insecta sax 33 34 32
  • 57.11 (n)
OneToMany
babo 34
  • 48 (a)
tkv 34
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007729 32
  • 56.02 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-1 34
  • 39 (a)
sma-6 34
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 45 (a)
OneToMany
Cin.8463 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8463 32
Species where no ortholog for ACVR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ACVR1 Gene

ENSEMBL:
Gene Tree for ACVR1 (if available)
TreeFam:
Gene Tree for ACVR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACVR1: view image

Paralogs for ACVR1 Gene

(10) SIMAP similar genes for ACVR1 Gene using alignment to 9 proteins:

  • ACVR1_HUMAN
  • C9J1R3_HUMAN
  • C9JHJ7_HUMAN
  • C9JW28_HUMAN
  • D3DPA4_HUMAN
  • F5GY91_HUMAN
  • L8E7H6_HUMAN
  • Q53SF4_HUMAN
  • Q53SV1_HUMAN
genes like me logo Genes that share paralogs with ACVR1: view

Variants for ACVR1 Gene

Sequence variations from dbSNP and Humsavar for ACVR1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057519875 likely-pathogenic, Adenocarcinoma of stomach, Brainstem glioma 157,770,385(-) C/A coding_sequence_variant, missense_variant
rs112908089 likely-benign, Progressive myositis ossificans 157,736,769(-) T/C 3_prime_UTR_variant
rs113455580 uncertain-significance, Progressive myositis ossificans 157,818,390(-) T/C 5_prime_UTR_variant
rs113598201 likely-benign, Progressive myositis ossificans 157,737,348(-) C/T 3_prime_UTR_variant
rs1146031 benign, not specified, Progressive myositis ossificans 157,770,468(-) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ACVR1 Gene

Variant ID Type Subtype PubMed ID
dgv2073n106 CNV deletion 24896259
esv1694256 CNV deletion 17803354
esv2223769 CNV deletion 18987734
esv2616379 CNV deletion 19546169
esv2721015 CNV deletion 23290073
esv3058 CNV loss 18987735
esv3560411 CNV deletion 23714750
esv3593065 CNV loss 21293372
esv6111 CNV loss 19470904
esv997183 CNV deletion 20482838
nsv1072460 CNV deletion 25765185
nsv1072986 CNV deletion 25765185
nsv1148977 CNV deletion 26484159
nsv527541 CNV loss 19592680
nsv583439 CNV loss 21841781
nsv956655 CNV deletion 24416366

Variation tolerance for ACVR1 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACVR1 Gene

Human Gene Mutation Database (HGMD)
ACVR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACVR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVR1 Gene

Disorders for ACVR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ACVR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fibrodysplasia ossificans progressiva
  • fop
brain stem glioma
  • brainstem neuroglial tumor
myositis ossificans
  • myisitis ossificans
ankylosis
osseous heteroplasia, progressive
  • fibrodysplasia ossificans progressiva
- elite association - COSMIC cancer census association via MalaCards
Search ACVR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACVR1_HUMAN
  • Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. {ECO:0000269 PubMed:16642017, ECO:0000269 PubMed:19085907, ECO:0000269 PubMed:19330033}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACVR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACVR1: view

No data available for Genatlas for ACVR1 Gene

Publications for ACVR1 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 23 56
  2. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. (PMID: 19085907) Kaplan FS … Shore EM (Human mutation 2009) 3 4 23 56
  3. Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. (PMID: 18854405) Kevenaar ME … Visser JA (Human reproduction (Oxford, England) 2009) 3 23 43 56
  4. A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. (PMID: 8389764) Matsuzaki K … Kan M (The Journal of biological chemistry 1993) 3 4 23 56
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 43 56

Products for ACVR1 Gene

Sources for ACVR1 Gene