Gene Gene information from NCBI Gene database.
Entrez ID 57522
Gene name SLIT-ROBO Rho GTPase activating protein 1
Gene symbol SRGAP1
Synonyms (NCBI Gene)
ARHGAP13NMTC2
Chromosome 12
Chromosome location 12q14.2
Summary The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs797044990 G>A Pathogenic Missense variant, coding sequence variant
rs1208074975 G>A,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1709
miRTarBase ID miRNA Experiments Reference
MIRT005810 hsa-miR-145-5p In situ hybridizationLuciferase reporter assayqRT-PCRwestern blot 21276775
MIRT005811 hsa-miR-214-3p In situ hybridizationLuciferase reporter assayqRT-PCRwestern blot 21276775
MIRT018618 hsa-miR-335-5p Microarray 18185580
MIRT023976 hsa-miR-1-3p Proteomics 18668040
MIRT037797 hsa-miR-92b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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 15161933, 17500595, 25150978, 28514442, 33961781, 35271311
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
606523 17382 ENSG00000196935
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6B7
Protein name SLIT-ROBO Rho GTPase-activating protein 1 (srGAP1) (Rho GTPase-activating protein 13)
Protein function GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 31 116 Fes/CIP4, and EFC/F-BAR homology domain Family
PF00620 RhoGAP 520 672 RhoGAP domain Domain
PF00018 SH3_1 749 794 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, kidney, and testis. {ECO:0000269|PubMed:11672528}.
Sequence
MSTPSRFKKDKEIIAEYESQVKEIRAQLVEQQKCLEQQTEMRVQLLQDLQDFFRKKAEIE
TEYSRNLEKLAERFMAKTRSTKDHQQYKKDQNLLSPVNCWYLLLNQVRRESKDHAT
LSDI
YLNNVIMRFMQISEDSTRMFKKSKEIAFQLHEDLMKVLNELYTVMKTYHMYHAESISAES
KLKEAEKQEEKQIGRSGDPVFHIRLEERHQRRSSVKKIEKMKEKRQAKYSENKLKSIKAR
NEYLLTLEATNASVFKYYIHDLSDLIDCCDLGYHASLNRALRTYLSAEYNLETSRHEGLD
IIENAVDNLEPRSDKQRFMEMYPAAFCPPMKFEFQSHMGDEVCQVSAQQPVQAELMLRYQ
QLQSRLATLKIENEEVKKTTEATLQTIQDMVTIEDYDVSECFQHSRSTESVKSTVSETYL
SKPSIAKRRANQQETEQFYFMKLREYLEGSNLITKLQAKHDLLQRTLGEGHRAEYMTTRP
PNVPPKPQKHRKSRPRSQYNTKLFNGDLETFVKDSGQVIPLIVESCIRFINLYGLQHQGI
FRVSGSQVEVNDIKNSFERGENPLADDQSNHDINSVAGVLKLYFRGLENPLFPKERFNDL
ISCIRIDNLYERALHIRKLLLTLPRSVLIVMRYLFAFLNHLSQYSDENMMDPYNLAICFG
PTLMPVPEIQDQ
VSCQAHVNEIIKTIIIHHETIFPDAKELDGPVYEKCMAGDDYCDSPYS
EHGTLEEVDQDAGTEPHTSEDECEPIEAIAKFDYVGRSARELSFKKGASLLLYHRASEDW
WEGRHNGIDGLVPH
QYIVVQDMDDTFSDTLSQKADSEASSGPVTEDKSSSKDMNSPTDRH
PDGYLARQRKRGEPPPPVRRPGRTSDGHCPLHPPHALSNSSVDLGSPSLASHPRGLLQNR
GLNNDSPERRRRPGHGSLTNISRHDSLKKIDSPPIRRSTSSGQYTGFNDHKPLDPETIAQ
DIEETMNTALNELRELERQSTAKHAPDVVLDTLEQVKNSPTPATSTESLSPLHNVALRSS
EPQIRRSTSSSSDTMSTFKPMVAPRMGVQLKPPALRPKPAVLPKTNPTIGPAPPPQGPTD
KSCTM
Sequence length 1085
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Thyroid cancer, nonmedullary, 2 Pathogenic rs797044990 RCV000190472
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
CAKUT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cakut Congenital anomalies of kidney and urinary tract BEFREE 26026792
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cakut Congenital anomalies of kidney and urinary tract GENOMICS_ENGLAND_DG 26026792
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 25134534 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 25134534
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27923383 Inhibit
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 25134534
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer GWASCAT_DG 25134534
★☆☆☆☆
Found in Text Mining only
Follicular thyroid carcinoma Follicular Thyroid Carcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 26026080
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 26026080
★☆☆☆☆
Found in Text Mining only