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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22821
Gene name	RAS p21 protein activator 3
Gene symbol	RASA3
Synonyms (NCBI Gene)	GAP1IP4BPGAPIII
Chromosome	13
Chromosome location	13q34
Summary	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin ho

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs746040003	TCAG>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1566529937	A>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017554	hsa-miR-335-5p	Microarray	18185580
MIRT049026	hsa-miR-92a-3p	CLASH	23622248
MIRT1291859	hsa-miR-1236	CLIP-seq
MIRT1291860	hsa-miR-1237	CLIP-seq
MIRT1291861	hsa-miR-1248	CLIP-seq
MIRT1291862	hsa-miR-1301	CLIP-seq
MIRT1291863	hsa-miR-148a	CLIP-seq
MIRT1291864	hsa-miR-148b	CLIP-seq
MIRT1291865	hsa-miR-152	CLIP-seq
MIRT1291866	hsa-miR-204	CLIP-seq
MIRT1291867	hsa-miR-211	CLIP-seq
MIRT1291868	hsa-miR-3064-5p	CLIP-seq
MIRT1291869	hsa-miR-3194-3p	CLIP-seq
MIRT1291870	hsa-miR-3650	CLIP-seq
MIRT1291871	hsa-miR-3943	CLIP-seq
MIRT1291872	hsa-miR-3944-5p	CLIP-seq
MIRT1291873	hsa-miR-4323	CLIP-seq
MIRT1291874	hsa-miR-4436b-3p	CLIP-seq
MIRT1291875	hsa-miR-4474-3p	CLIP-seq
MIRT1291876	hsa-miR-4659a-3p	CLIP-seq
MIRT1291877	hsa-miR-4659b-3p	CLIP-seq
MIRT1291878	hsa-miR-4660	CLIP-seq
MIRT1291879	hsa-miR-4667-5p	CLIP-seq
MIRT1291880	hsa-miR-4687-3p	CLIP-seq
MIRT1291881	hsa-miR-4700-5p	CLIP-seq
MIRT1291882	hsa-miR-4753-3p	CLIP-seq
MIRT1291883	hsa-miR-4755-5p	CLIP-seq
MIRT1291884	hsa-miR-4761-3p	CLIP-seq
MIRT1291885	hsa-miR-4796-5p	CLIP-seq
MIRT1291886	hsa-miR-485-5p	CLIP-seq
MIRT1291887	hsa-miR-5047	CLIP-seq
MIRT1291888	hsa-miR-517b	CLIP-seq
MIRT1291889	hsa-miR-623	CLIP-seq
MIRT1291890	hsa-miR-637	CLIP-seq
MIRT1291891	hsa-miR-644	CLIP-seq
MIRT1291892	hsa-miR-760	CLIP-seq
MIRT1291893	hsa-miR-942	CLIP-seq
MIRT2086823	hsa-miR-1193	CLIP-seq
MIRT2086824	hsa-miR-1207-5p	CLIP-seq
MIRT1291861	hsa-miR-1248	CLIP-seq
MIRT2086825	hsa-miR-128	CLIP-seq
MIRT2086826	hsa-miR-1973	CLIP-seq
MIRT2086827	hsa-miR-3688-5p	CLIP-seq
MIRT2086828	hsa-miR-4269	CLIP-seq
MIRT2086829	hsa-miR-4470	CLIP-seq
MIRT2086830	hsa-miR-4651	CLIP-seq
MIRT2086831	hsa-miR-4696	CLIP-seq
MIRT2086832	hsa-miR-4736	CLIP-seq
MIRT2086833	hsa-miR-4763-3p	CLIP-seq
MIRT2086834	hsa-miR-608	CLIP-seq
MIRT2086823	hsa-miR-1193	CLIP-seq
MIRT2086824	hsa-miR-1207-5p	CLIP-seq
MIRT2311707	hsa-miR-1254	CLIP-seq
MIRT2086825	hsa-miR-128	CLIP-seq
MIRT2086826	hsa-miR-1973	CLIP-seq
MIRT2311708	hsa-miR-3116	CLIP-seq
MIRT2086828	hsa-miR-4269	CLIP-seq
MIRT2086831	hsa-miR-4696	CLIP-seq
MIRT2086832	hsa-miR-4736	CLIP-seq
MIRT2086833	hsa-miR-4763-3p	CLIP-seq
MIRT2311709	hsa-miR-661	CLIP-seq
MIRT2086826	hsa-miR-1973	CLIP-seq
MIRT2086831	hsa-miR-4696	CLIP-seq
MIRT2608159	hsa-miR-136	CLIP-seq
MIRT1291866	hsa-miR-204	CLIP-seq
MIRT1291867	hsa-miR-211	CLIP-seq
MIRT2608160	hsa-miR-3152-5p	CLIP-seq
MIRT2608161	hsa-miR-3155	CLIP-seq
MIRT2608162	hsa-miR-3155b	CLIP-seq
MIRT2608163	hsa-miR-3157-5p	CLIP-seq
MIRT2608164	hsa-miR-3591-5p	CLIP-seq
MIRT2608165	hsa-miR-3614-3p	CLIP-seq
MIRT2608166	hsa-miR-4297	CLIP-seq
MIRT2608167	hsa-miR-4438	CLIP-seq
MIRT2608168	hsa-miR-4460	CLIP-seq
MIRT2608169	hsa-miR-4691-3p	CLIP-seq
MIRT2608170	hsa-miR-4727-3p	CLIP-seq
MIRT1291883	hsa-miR-4755-5p	CLIP-seq
MIRT2608171	hsa-miR-4774-3p	CLIP-seq
MIRT2608172	hsa-miR-484	CLIP-seq
MIRT1291889	hsa-miR-623	CLIP-seq
MIRT2689347	hsa-miR-1281	CLIP-seq
MIRT2689348	hsa-miR-1321	CLIP-seq
MIRT2608159	hsa-miR-136	CLIP-seq
MIRT2689349	hsa-miR-3150a-5p	CLIP-seq
MIRT2689350	hsa-miR-3150b-5p	CLIP-seq
MIRT2608160	hsa-miR-3152-5p	CLIP-seq
MIRT2608163	hsa-miR-3157-5p	CLIP-seq
MIRT2608165	hsa-miR-3614-3p	CLIP-seq
MIRT2689351	hsa-miR-4270	CLIP-seq
MIRT2608166	hsa-miR-4297	CLIP-seq
MIRT2689352	hsa-miR-4441	CLIP-seq
MIRT2608169	hsa-miR-4691-3p	CLIP-seq
MIRT2689353	hsa-miR-4739	CLIP-seq
MIRT2689354	hsa-miR-4756-5p	CLIP-seq
MIRT2608171	hsa-miR-4774-3p	CLIP-seq
MIRT2689355	hsa-miR-4796-3p	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS	7637787
GO:0005246	Function	Calcium channel regulator activity	IDA	10828023
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006950	Process	Response to stress	IEA
GO:0007165	Process	Signal transduction	TAS	7637787
GO:0008270	Function	Zinc ion binding	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	10828023
GO:0016020	Component	Membrane	IEA
GO:0030168	Process	Platelet activation	IDA	10828023
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

MIM	HGNC	e!Ensembl
605182	20331	ENSG00000185989

Q14644

Protein name

Ras GTPase-activating protein 3 (GAP1(IP4BP)) (Ins P4-binding protein)

Protein function

Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	12 → 114	C2 domain	Domain
PF00168	C2	145 → 265	C2 domain	Domain
PF00616	RasGAP	351 → 423	GTPase-activator protein for Ras-like GTPase	Family
PF00616	RasGAP	418 → 524	GTPase-activator protein for Ras-like GTPase	Family
PF00169	PH	577 → 677	PH domain	Domain
PF00779	BTK	685 → 714	BTK motif	Motif

Sequence

MAVEDEGLRVFQSVKIKIGEAKNLPSYPGPSKMRDCYCTVNLDQEEVFRTKIVEKSLCPF
YGEDFYCEIPRSFRHLSFYIFDRDVFRRDSIIGKVAIQKEDLQKYHNRDTWFQLQHVDAD
SEVQGKVHLELRLSEVITDTGVVCHKLATRIVECQGLPIVNGQCDPYATVTLAGPFRSEA
KKTKVKRKTNNPQFDEVFYFEVTRPCSYSKKSHFDFEEEDVDKLEIRVDLWNASNLKFGD
EFLGELRIPLKVLRQSSSYEAWYFLQPRDNGSKSLKPDDLGSLRLNVVYTEDHVFSSDYY
SPLRDLLLKSADVEPVSASAAHILGEVCREKQEAAVPLVRLFLHYGRVVPFISAIASAEV
KRTQDPNTIFRGNSLASKCIDETMKLAGMHYLHVTLKPAIEEICQSHKPCEIDPVKLKDG
ENLENNMENLRQYVDRVFHAITESGVSCPTVMCDIFFSLREAAAKRFQDDPDVRYTAVSS
FIFLRFFAPAILSPNLFQLTPHHTDPQTSRTLTLISKTVQTLGSLSKSKSASFKESYMAT
FYEFFNEQKYADAVKNFLDLISSSGRRDPKSVEQPIVLKEGFMIKRAQGRKRFGMKNFKK
RWFRLTNHEFTYHKSKGDQPLYSIPIENILAVEKLEEESFKMKNMFQVIQPERALYIQAN
NCVEAKDWIDILTKVSQCNQKRLTVYHPSAYLSGHWLCCRAPSDSAPGCSPCTGGLPANI
QLDIDGDRETERIYSLFNLYMSKLEKMQEACGSKSVYDGPEQEEYSTFVIDDPQETYKTL
KQVIAGVGALEQEHAQYKRDKFKKTKYGSQEHPIGDKSFQNYIRQQSETSTHSI

Sequence length

834

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway		Regulation of RAS by GAPs

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature	Pathogenic; Likely pathogenic	rs746040003, rs1566529937	RCV000736134 RCV000736135	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9874690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29922180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23416983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	36243603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30809043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29937930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	29922180		★★★★★ ★☆☆☆☆ Found in Text Mining only

RASA3 (RAS p21 protein activator 3)