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  2. SRGAP1 - SLIT-ROBO Rho GTPase activating protein 1 Gene

SRGAP1 - SLIT-ROBO Rho GTPase activating protein 1 Gene

Homo sapiens

Also known as NMTC2; ARHGAP13

Gene ID: 57522 | Gene type: protein coding

About SRGAP1

Cytogenetic location: 12q14.2 Genomic coordinates (GRCh38): 12:63,844,700-64,162,217 (from NCBI)

This gene has 8 transcripts (splice variants), 278 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 2.6), thyroid (RPKM 2.5) and 24 other tissues.

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]

SRGAP1 Products(2)

mRNA Protein Name
NM_001346201.2 NP_001333130.1 SLIT-ROBO Rho GTPase-activating protein 1 isoform 2
NM_020762.4 NP_065813.1 SLIT-ROBO Rho GTPase-activating protein 1 isoform 1

SRGAP1 Protein Structure

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (23 - 119)

RhoGAP

RhoGAP: RhoGAP domain (520 - 668)

SH3_9

SH3_9: Variant SH3 domain (750 - 797)

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  • 1085 a.a.
Protein Preferred Names Protein Names

SLIT-ROBO Rho GTPase-activating protein 1

rho GTPase-activating protein 13

Related Diseases

Diseases Alias
Thyroid Cancer, Nonmedullary, 2

Thyroid Carcinoma, Follicular

Follicular Thyroid Carcinoma

NMTC2

Thyroid Cancer, Follicular

Thyroid Carcinoma, Follicular, Somatic

Ftc

Thyroid Cancer, Non-Medullary, 2

Thyroid Follicular Carcinoma

Follicular Thyroid Cancer

Cancer, Thyroid, Nonmedullary, Type 2

Thyroid Gland Adenocarcinoma

Follicular Carcinoma Of Unspecified Site

Moderately Differentiated Follicular Carcinoma Of Thyroid Gland

Pure Follicle Carcinoma Of Thyroid Gland

Pure Follicle Follicular Carcinoma Of Unspecified Site

Pure Follicular Carcinoma Of Thyroid Gland

Trabecular Follicular Carcinoma Of Thyroid Gland

Trabecular Follicular Carcinoma Of Unspecified Site

Well Differentiated Follicular Carcinoma Of Unspecified Site

Well Differentiated Follicular Carcinoma Of Thyroid Gland

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Dicer1 Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome

Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome

Ppb Familial Tumor Susceptibility Syndrome

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility

Dicer1-Related Pleuropulmonary Blastoma

Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome

Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome

Ppbftds

Doid:0081063

Recombinase Activating Gene 1 Deficiency
Combined Cellular And Humoral Immune Defects With Granulomas

Combined Immunodeficiency With Skin Granulomas

CCHIDG

Cid Due To Rag 1/2 Deficiency

Combined Immunodeficiency Due To Rag 1/2 Deficiency

Combined Immunodeficiency With Granulomatosis

CHIDG

Immune Defects, Combined Cellular And Humoral With Granulomas

Immunodeficiency 39

IMD39

Immunodeficiency, Type 39

Immunodeficiency 44

IMD44

Carney Complex Variant

Carney Complex

Carney Syndrome

Carney Complex, Type 1

Lamb Syndrome

Name Syndrome

Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

Carney Complex - Trismus - Pseudocamptodactyly Syndrome

Carney Complex, Type 2

Car

Cnc1

Carney Myxoma-Endocrine Complex

Myxoma - Spotty Pigmentation - Endocrine Overactivity

Myxoma, Spotty Pigmentation, And Endocrine Overactivity

Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Carney Complex-Trismus-Pseudocamptodactyly Syndrome

CACOV

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Multinodular Goiter
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SRGAP1 VGNC VGNC:65679
Macaca mulatta SRGAP1 VGNC VGNC:77939
Canis familiaris SRGAP1 VGNC VGNC:46801
Bos taurus SRGAP1 VGNC VGNC:35278
Mus musculus SRGAP1 MGD MGI:2152936
Rattus norvegicus SRGAP1 RGD RGD:1566260