Seroatlas · Human Serome Atlas

ACVR2B

Activin receptor type-2B

Also known as: ActR-IIB, AVR2B_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13705
Gene
ACVR2B
Ensembl
ENSG00000114739
Chromosome
3
Canonical length
512 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins

OverviewNCBI 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. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

512 residues, UniProt reviewed canonical sequence.

>Q13705|ACVR2B
     1  MTAPWVALAL LWGSLCAGSG RGEAETRECI YYNANWELER TNQSGLERCE GEQDKRLHCY
    61  ASWRNSSGTI ELVKKGCWLD DFNCYDRQEC VATEENPQVY FCCCEGNFCN ERFTHLPEAG
   121  GPEVTYEPPP TAPTLLTVLA YSLLPIGGLS LIVLLAFWMY RHRKPPYGHV DIHEDPGPPP
   181  PSPLVGLKPL QLLEIKARGR FGCVWKAQLM NDFVAVKIFP LQDKQSWQSE REIFSTPGMK
   241  HENLLQFIAA EKRGSNLEVE LWLITAFHDK GSLTDYLKGN IITWNELCHV AETMSRGLSY
   301  LHEDVPWCRG EGHKPSIAHR DFKSKNVLLK SDLTAVLADF GLAVRFEPGK PPGDTHGQVG
   361  TRRYMAPEVL EGAINFQRDA FLRIDMYAMG LVLWELVSRC KAADGPVDEY MLPFEEEIGQ
   421  HPSLEELQEV VVHKKMRPTI KDHWLKHPGL AQLCVTIEEC WDHDAEARLS AGCVEERVSL
   481  IRRSVNGTTS DCLVSLVTSV TNVDLPPKES SI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACVR2B 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)
0.35
Highest tissue expression
6 nTPM

Expression across tissuesHPA

Tissue

  • retina: 6 nTPM
  • skeletal muscle: 5.6 nTPM
  • cerebellum: 4.7 nTPM
  • thymus: 3.8 nTPM
  • parathyroid gland: 3.1 nTPM
  • adrenal gland: 2.7 nTPM

Single-cell type

  • adrenal cortex cells: 61 nCPM
  • thyrotrophs: 52 nCPM
  • proximal tubule cells: 47 nCPM
  • adrenal medulla cells: 43 nCPM
  • lactotrophs: 42 nCPM
  • corticotrophs: 37 nCPM

Immune cell

  • memory CD4 T-cell: 0.1 nTPM
  • naive CD4 T-cell: 0.1 nTPM
  • naive CD8 T-cell: 0.1 nTPM
  • T-reg: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM

Brain region

  • cerebellum: 14 nTPM
  • white matter: 10 nTPM
  • midbrain: 10 nTPM
  • amygdala: 9.9 nTPM
  • basal ganglia: 9.6 nTPM
  • hypothalamus: 9.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACVR2B.

Disease | AllUniProt

Conditions ACVR2B is implicated in, by any mechanism.

  • Heterotaxy, visceral, 4, autosomal (HTX4) MIM:613751

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 384 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Heterotaxy, visceral, 4, autosomal

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)
0.38
gnomAD pLI
0.83
gnomAD missense Z
2.04
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ACVR2B 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 ACVR2B as an antibody target. Whether an autoantibody or antibody against ACVR2B could matter depends on whether native ACVR2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACVR2B is annotated at the cell surface, where native ACVR2B 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 ACVR2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACVR2B. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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