Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	202309
Gene name	GRB2 binding adaptor protein, transmembrane
Gene symbol	GAPT
Synonyms (NCBI Gene)	C5orf29
Chromosome	5
Chromosome location	5q11.2

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments
MIRT1012064	hsa-miR-1237	CLIP-seq
MIRT1012065	hsa-miR-1248	CLIP-seq
MIRT1012066	hsa-miR-1253	CLIP-seq
MIRT1012067	hsa-miR-1267	CLIP-seq
MIRT1012068	hsa-miR-1275	CLIP-seq
MIRT1012069	hsa-miR-136	CLIP-seq
MIRT1012070	hsa-miR-140-3p	CLIP-seq
MIRT1012071	hsa-miR-219-2-3p	CLIP-seq
MIRT1012072	hsa-miR-224	CLIP-seq
MIRT1012073	hsa-miR-2964a-3p	CLIP-seq
MIRT1012074	hsa-miR-3148	CLIP-seq
MIRT1012075	hsa-miR-3159	CLIP-seq
MIRT1012076	hsa-miR-3177-5p	CLIP-seq
MIRT1012077	hsa-miR-3183	CLIP-seq
MIRT1012078	hsa-miR-3609	CLIP-seq
MIRT1012079	hsa-miR-4326	CLIP-seq
MIRT1012080	hsa-miR-4643	CLIP-seq
MIRT1012081	hsa-miR-466	CLIP-seq
MIRT1012082	hsa-miR-4665-5p	CLIP-seq
MIRT1012083	hsa-miR-4690-5p	CLIP-seq
MIRT1012084	hsa-miR-4723-3p	CLIP-seq
MIRT1012085	hsa-miR-4768-5p	CLIP-seq
MIRT1012086	hsa-miR-4789-3p	CLIP-seq
MIRT1012087	hsa-miR-548ah	CLIP-seq
MIRT1012088	hsa-miR-548t	CLIP-seq
MIRT1012089	hsa-miR-582-5p	CLIP-seq
MIRT1012090	hsa-miR-653	CLIP-seq
MIRT1012091	hsa-miR-875-3p	CLIP-seq
MIRT1012092	hsa-miR-942	CLIP-seq
MIRT1999821	hsa-miR-139-5p	CLIP-seq
MIRT1012070	hsa-miR-140-3p	CLIP-seq
MIRT1999822	hsa-miR-3127-5p	CLIP-seq
MIRT1999823	hsa-miR-3618	CLIP-seq
MIRT1999824	hsa-miR-4666-5p	CLIP-seq
MIRT1012089	hsa-miR-582-5p	CLIP-seq
MIRT1999821	hsa-miR-139-5p	CLIP-seq
MIRT1012070	hsa-miR-140-3p	CLIP-seq
MIRT2233239	hsa-miR-297	CLIP-seq
MIRT1012076	hsa-miR-3177-5p	CLIP-seq
MIRT1999823	hsa-miR-3618	CLIP-seq
MIRT2233240	hsa-miR-4729	CLIP-seq
MIRT2233241	hsa-miR-567	CLIP-seq
MIRT2233242	hsa-miR-579	CLIP-seq
MIRT1012089	hsa-miR-582-5p	CLIP-seq
MIRT1999821	hsa-miR-139-5p	CLIP-seq
MIRT1012070	hsa-miR-140-3p	CLIP-seq
MIRT1999823	hsa-miR-3618	CLIP-seq
MIRT1012089	hsa-miR-582-5p	CLIP-seq
MIRT1999821	hsa-miR-139-5p	CLIP-seq
MIRT1012070	hsa-miR-140-3p	CLIP-seq
MIRT1999823	hsa-miR-3618	CLIP-seq
MIRT1012089	hsa-miR-582-5p	CLIP-seq
MIRT1999821	hsa-miR-139-5p	CLIP-seq
MIRT1012070	hsa-miR-140-3p	CLIP-seq
MIRT1999823	hsa-miR-3618	CLIP-seq
MIRT1012089	hsa-miR-582-5p	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence
GO:0001782	Process	B cell homeostasis	IBA
GO:0001782	Process	B cell homeostasis	IEA
GO:0002322	Process	B cell proliferation involved in immune response	IBA
GO:0002322	Process	B cell proliferation involved in immune response	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0042113	Process	B cell activation	IEA

MIM	HGNC	e!Ensembl
620440	26588	ENSG00000175857

Q8N292

Protein name

Protein GAPT (GRB2-binding adapter protein, transmembrane) (Growth factor receptor-bound protein 2-binding adapter protein, transmembrane)

Protein function

Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11770	GAPT	1 → 155	GRB2-binding adapter (GAPT)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in spleen and PBL, detected at lower levels in thymus, and undetectable in all other tissues tested. Also expressed in various B-cell lines, monocytic cell line THP-1 and NK-like cell line YT, but not in T-cell line Ju

Sequence

MSKSCGNNLAAISVGISLLLLLVVCGIGCVWHWKHRVATRFTLPRFLQRRSSRRKVCTKT
FLGPRIIGLRHEISVETQDHKSAVRGNNTHDNYENVEAGPPKAKGKTDKELYENTGQSNF
EEHIYGNETSSDYYNFQKPRPSEVPQDEDIYILPDSY

Sequence length

157

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39290707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	39290707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GAPT (GRB2 binding adaptor protein, transmembrane)