GeneBe

GNA13

protein-coding

G protein subunit alpha 13

Gene summary

Enables G protein activity. Involved in Rho-activating G protein-coupled receptor signaling pathway. Located in cytosol and nucleus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_006572.6

Inheritance

—

ClinVar variants

U:36B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr17:65,009,289-65,056,740

External References & Databases

Ensembl (ENSG00000120063)NCBI Gene (10672)OMIM (604406)HGNC:4381GenCCUniProt (Q14344)AlphaFoldClinVar (GNA13)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~47.5 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 GNA13 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 28
not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006572.6. 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
 3
missense
32
clinvar
 32
nonsense
2
clinvar
 2
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total00360238
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_006572.6RefSeqNP_006563.24MANE Select
ENST00000439174.7EnsemblENSP00000400717.24MANE Select
NM_001282425.2RefSeqNP_001269354.13Standard
ENST00000541118.1EnsemblENSP00000439647.13Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
gna13bDanio rerio

Structure: nucleate erythrocyte

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Platelet activation - Homo sapiens (human)
  • Long-term depression - Homo sapiens (human)
  • Regulation of actin cytoskeleton - Homo sapiens (human)
  • Apelin signaling pathway - Homo sapiens (human)
  • Vascular smooth muscle contraction - Homo sapiens (human)

Biological Process

  • branching involved in blood vessel morphogenesis
  • in utero embryonic development
  • signal transduction
  • G protein-coupled receptor signaling pathway
  • adenylate cyclase-modulating G protein-coupled receptor signaling pathway

Molecular Function

  • G protein-coupled receptor binding
  • GTPase activity
  • guanyl-nucleotide exchange factor activity
  • Rho guanyl-nucleotide exchange factor activity
  • protein binding

Cellular Component

  • nucleus
  • cytosol
  • heterotrimeric G-protein complex
  • plasma membrane
  • focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000439174
Coding exons
4
Length
46125
Individuals with no LoFs
125743
Homozygous LoFs
0
Heterozygous LoFs
2
Defined
125745
p
0.00000795
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.711092230.4890.00001252493
Missense (PolyPhen)42107.520.390631160
Synonymous0.9897485.60.8640.00000456724
Loss of Function3.16215.40.1308.54e-7171

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.00000880.0000088rare
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:15240885, PubMed:16787920, PubMed:16705036, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866). GNA13-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway (PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333). {ECO:0000250|UniProtKB:P27601, ECO:0000269|PubMed:11976333, ECO:0000269|PubMed:12515866, ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:16705036, ECO:0000269|PubMed:16787920, ECO:0000269|PubMed:27084452}.;

Recessive Scores

pRec
0.120

Intolerance Scores

RVIS EVS
0.08
RVIS percentile EVS
60.09

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.969

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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