GeneBe

ACVR1C

protein-coding

activin A receptor type 1C, the group of Type 1 receptor serine/threonine kinases

Gene summary

ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_145259.3

Inheritance

—

ClinVar variants

U:38B:10

Top phenotype

ACVR1C-related disorder

gnomAD constraint

pLI —, LoF o/e 0.37

Max pathogenic AF

—

Genomic locus

chr2:157,526,767-157,628,864

External References & Databases

Ensembl (ENSG00000123612)NCBI Gene (130399)OMIM (608981)HGNC:18123GenCCUniProt (Q8NER5)AlphaFoldClinVar (ACVR1C)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~102.1 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ACVR1C variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 36
not providedTotal: 10
ACVR1C-related disorderTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145259.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
2
clinvar
5
clinvar
 8
missense
37
clinvar
1
clinvar
2
clinvar
 40
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00383748
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_145259.3RefSeqNP_660302.29MANE Select
ENST00000243349.13EnsemblENSP00000243349.79MANE Select
NM_001111031.2RefSeqNP_001104501.18Standard
NM_001111032.2RefSeqNP_001104502.18Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • TGF-beta signaling pathway - Homo sapiens (human)
  • Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human)
  • TGF-Core
  • Developmental Biology
  • Regulation of signaling by NODAL

Biological Process

  • response to dietary excess
  • protein phosphorylation
  • transforming growth factor beta receptor signaling pathway
  • pattern specification process
  • response to glucose

Molecular Function

  • protein serine/threonine kinase activity
  • transforming growth factor beta-activated receptor activity
  • transforming growth factor beta receptor activity, type I
  • ATP binding
  • activin receptor activity, type I

Cellular Component

  • plasma membrane
  • integral component of plasma membrane
  • receptor complex
  • activin receptor complex

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000243349
Coding exons
9
Length
102239
Individuals with no LoFs
125710
Homozygous LoFs
0
Heterozygous LoFs
38
Defined
125748
p
0.000151
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.501982670.7420.00001343174
Missense (PolyPhen)70133.440.52461627
Synonymous0.07069696.90.9910.00000516962
Loss of Function3.001026.70.3740.00000156294

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American0.0000290.000029rare
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.000230.00023rare
European (Non-Finnish)0.000250.00025rare
South Asian0.0000720.000065rare
Other0.000160.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. {ECO:0000269|PubMed:12063393, ECO:0000269|PubMed:15531507}.;

Recessive Scores

pRec
0.154

Intolerance Scores

LoFtool
0.0761
RVIS EVS
-0.05
RVIS percentile EVS
50.01

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.765

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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