GAB4

protein-coding

GRB2 associated binding protein family member 4, the group of Pleckstrin homology domain containing

Gene summary

Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001037814.1

Inheritance

—

ClinVar variants

U:97B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr22:16,961,936-17,008,222

External References & Databases

Ensembl (ENSG00000215568)

Transcript & Mutation Effects

hg38 • Region Span ~46.3 kb

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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 GAB4 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 105

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001037814.1. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			97 clinvar	8 clinvar		105
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	97	8	0	105

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001037814.1	RefSeq	NP_001032903.1	10	MANE Select
ENST00000400588.5	Ensembl	ENSP00000383431.1	10	MANE Select
NM_001366857.1	RefSeq	NP_001353786.1	8	Standard
ENST00000465611.1	Ensembl	ENSP00000428584.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000400588
Coding exons: 10
Length: 46287
Individuals with no LoFs: 49266
Homozygous LoFs: 19287
Heterozygous LoFs: 57194
Defined: 125747
p: 0.374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.964	381	332	1.15	0.0000184	3754
Missense (PolyPhen)		33	44.612	0.73972		464
Synonymous	-0.539	148	140	1.06	0.00000855	1136
Loss of Function	0.783	17	20.9	0.815	8.89e-7	251

Population LoF Frequency

Population	CAF	p-value	Status
African	0.22	0.21	notable
Latino/Admixed American	0.49	0.47	notable
Ashkenazi Jewish	0.42	0.41	notable
East Asian	0.40	0.38	notable
Finnish	0.37	0.36	notable
European (Non-Finnish)	0.37	0.36	notable
South Asian	0.45	0.44	notable
Other	0.38	0.36	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0687

Intolerance Scores

LoFtool: 0.771
RVIS EVS: 1.03
RVIS percentile EVS: 91.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0750

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High