ACVR2A
Activin receptor type-2A
Also known as: ACTRII, ACVR2, AVR2A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P27037
- Gene
- ACVR2A
- Ensembl
- ENSG00000121989
- Chromosome
- 2
- Canonical length
- 513 aa
- Protein class
- Cancer-related genes, Enzymes, Predicted membrane proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
Canonical amino-acid sequenceUniProt
513 residues, UniProt reviewed canonical sequence.
>P27037|ACVR2A
1 MGAAAKLAFA VFLISCSSGA ILGRSETQEC LFFNANWEKD RTNQTGVEPC YGDKDKRRHC
61 FATWKNISGS IEIVKQGCWL DDINCYDRTD CVEKKDSPEV YFCCCEGNMC NEKFSYFPEM
121 EVTQPTSNPV TPKPPYYNIL LYSLVPLMLI AGIVICAFWV YRHHKMAYPP VLVPTQDPGP
181 PPPSPLLGLK PLQLLEVKAR GRFGCVWKAQ LLNEYVAVKI FPIQDKQSWQ NEYEVYSLPG
241 MKHENILQFI GAEKRGTSVD VDLWLITAFH EKGSLSDFLK ANVVSWNELC HIAETMARGL
301 AYLHEDIPGL KDGHKPAISH RDIKSKNVLL KNNLTACIAD FGLALKFEAG KSAGDTHGQV
361 GTRRYMAPEV LEGAINFQRD AFLRIDMYAM GLVLWELASR CTAADGPVDE YMLPFEEEIG
421 QHPSLEDMQE VVVHKKKRPV LRDYWQKHAG MAMLCETIEE CWDHDAEARL SAGCVGERIT
481 QMQRLTNIIT TEDIVTVVTM VTNVDFPPKE SSLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACVR2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- skin: 18 nTPM
- skeletal muscle: 16 nTPM
- small intestine: 8.7 nTPM
- retina: 7.6 nTPM
- placenta: 7.3 nTPM
- duodenum: 7.2 nTPM
Single-cell type
- fibro-adipogenic progenitors: 163 nCPM
- sertoli cells: 139 nCPM
- corticotrophs: 125 nCPM
- oligodendrocyte progenitor cells: 115 nCPM
- enterocytes: 104 nCPM
- brain inhibitory neurons: 104 nCPM
Immune cell
- NK-cell: 4.8 nTPM
- memory CD4 T-cell: 2.4 nTPM
- intermediate monocyte: 2 nTPM
- non-classical monocyte: 2 nTPM
- classical monocyte: 1.7 nTPM
- plasmacytoid DC: 1.7 nTPM
Brain region
- cerebellum: 28 nTPM
- hypothalamus: 23 nTPM
- cerebral cortex: 21 nTPM
- basal ganglia: 20 nTPM
- amygdala: 17 nTPM
- hippocampal formation: 16 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.29
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activin receptor signaling pathway
- anterior/posterior pattern specification
- BMP signaling pathway
- cell surface receptor protein serine/threonine kinase signaling pathway
- cellular response to BMP stimulus
- cellular response to growth factor stimulus
- determination of left/right symmetry
- embryonic skeletal system development
- gastrulation with mouth forming second
- mesoderm development
- odontogenesis of dentin-containing tooth
- osteoblast differentiation
- pattern specification process
- penile erection
- positive regulation of activin receptor signaling pathway
- positive regulation of bone mineralization
- positive regulation of erythrocyte differentiation
- positive regulation of osteoblast differentiation
- positive regulation of protein phosphorylation
- positive regulation of SMAD protein signal transduction
- positive regulation of transcription by RNA polymerase II
- regulation of nitric oxide biosynthetic process
- Sertoli cell proliferation
- sperm ejaculation
- spermatogenesis
Molecular functions
- activin binding
- activin receptor activity
- activin receptor activity, type I
- activin receptor activity, type II
- ATP binding
- BMP receptor activity
- coreceptor activity
- growth factor binding
- identical protein binding
- inhibin binding
- metal ion binding
- PDZ domain binding
- protein serine/threonine kinase activity
- transmembrane receptor protein serine/threonine kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ACVR2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACVR2A as an antibody target. Whether an autoantibody or antibody against ACVR2A could matter depends on whether native ACVR2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACVR2A is annotated at the cell surface, where native ACVR2A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ACVR2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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