Gene Gene information from NCBI Gene database.
Entrez ID 9901
Gene name SLIT-ROBO Rho GTPase activating protein 3
Gene symbol SRGAP3
Synonyms (NCBI Gene)
ARHGAP14MEGAPSRGAP2WRP
Chromosome 3
Chromosome location 3p25.3
miRNA miRNA information provided by mirtarbase database.
311
miRTarBase ID miRNA Experiments Reference
MIRT1388873 hsa-let-7a CLIP-seq
MIRT1388874 hsa-let-7b CLIP-seq
MIRT1388875 hsa-let-7c CLIP-seq
MIRT1388876 hsa-let-7d CLIP-seq
MIRT1388877 hsa-let-7e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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
GO:0005515 Function Protein binding IPI 17500595, 25819436
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606525 19744 ENSG00000196220
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43295
Protein name SLIT-ROBO Rho GTPase-activating protein 3 (srGAP3) (Mental disorder-associated GAP) (Rho GTPase-activating protein 14) (WAVE-associated Rac GTPase-activating protein) (WRP)
Protein function GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 31 115 Fes/CIP4, and EFC/F-BAR homology domain Family
PF00620 RhoGAP 520 672 RhoGAP domain Domain
PF00018 SH3_1 750 795 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in adult and fetal brain. Expressed at low levels in kidney. Isoform 3 is expressed in the kidney but is absent in the brain. {ECO:0000269|PubMed:12195014, ECO:0000269|PubMed:12447388}.
Sequence
MSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHAT
LNDIF
MNNVIVRLSQISEDVIRLFKKSKEIGLQMHEELLKVTNELYTVMKTYHMYHAESISAESK
LKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLD
VIENAVDNLDSRSDKHTVMDMCNQVFCPPLKFEFQPHMGDEVCQVSAQQPVQTELLMRYH
QLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRP
PCLPPKPQKMRRPRPLSVYSHKLFNGSMEAFIKDSGQAIPLVVESCIRYINLYGLQQQGI
FRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDL
ISTIKLENPAERVHQIQQILVTLPRVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFG
PTLMHIPDGQDP
VSCQAHINEVIKTIIIHHEAIFPSPRELEGPVYEKCMAGGEEYCDSPH
SEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASED
WWEGRHNGVDGLIPH
QYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTE
HISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPSSPHKIP
LTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEAL
AEDIEKTMSTALHELRELERQNTVKQAPDVVLDTLEPLKNPPGPVSSEPASPLHTIVIRD
PDAAMRRSSSSSTEMMTTFKPALSARLAGAQLRPPPMRPVRPVVQHRSSSSSSSGVGSPA
VTPTEKMFPNSSADKSGTM
Sequence length 1099
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Rho GTPase cycle
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Moyamoya angiopathy Likely pathogenic rs1033693138 RCV004704510
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs76476731 RCV005907725
See cases Uncertain significance rs1488419249 RCV001196554
SRGAP3-related disorder Uncertain significance; Likely benign; Benign rs201629131, rs1941661638, rs763116513, rs185541928, rs759170968, rs984806535, rs2292251, rs61747289, rs145531861, rs79362157, rs61747290, rs61747989, rs146843771, rs141284390, rs61745234
View all (13 more)
RCV004752019
RCV003399820
RCV003422510
RCV003981649
RCV003903877
RCV003937386
RCV003979276
RCV003976371
RCV003915827
RCV003915897
RCV003970776
RCV003916135
RCV003928556
RCV003928526
RCV003916247
RCV003972872
RCV003972834
RCV003967968
RCV003948373
RCV003950424
RCV003968289
RCV003975761
RCV003932923
RCV003910726
RCV003958084
RCV003922914
RCV003950501
RCV003895529
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30151992
Asthma Associate 35205259
Carcinoma Hepatocellular Associate 35913371
Cognition Disorders Associate 23040932
Hemangioma Associate 40416971
Inflammation Associate 35205259
Intellectual Disability Associate 23040932
Parkinson Disease Associate 20035503
Rumination Syndrome Associate 30886212
Status Asthmaticus Associate 35205259