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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SRGAP1
SLIT-ROBO Rho GTPase activating protein 1
Chromosome 12 · 12q14.2
NCBI Gene: 57522Ensembl: ENSG00000196935.11HGNC: HGNC:17382UniProt: Q7Z6B7
48PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGTPase activator activitynervous system developmentnegative regulation of cell migrationfollicular thyroid carcinomacongenital anomaly of kidney and urinary tractcongenital hydronephrosisthyroid cancer, nonmedullary, 2
✦AI Summary

SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1) is a GTPase-activating protein that inactivates RhoA and Cdc42 small GTPases, functioning downstream of SLIT-ROBO signaling 1. During neocortical development, SRGAP1 is highly expressed anteriorly between 8-12 postconceptional weeks and becomes confined to Layer V by 15 weeks, with prominent expression in corticospinal projection neurons 2. SRGAP1 functions as a key regulator of neuronal and epithelial biology: in neurons, neuronal Slit1 activates Robo2-SRGAP1-RhoA signaling to promote oligodendrocyte differentiation and myelination, particularly under hypoxic conditions 3. In podocytes, SRGAP1 localizes to foot processes and controls actin cytoskeleton dynamics by suppressing Rho GTPase activity, maintaining podocyte architecture and preventing foot-process effacement characteristic of focal segmental glomerulosclerosis 4. In epithelia, SRGAP1 actively suppresses RhoA signaling at junctions to maintain low contractility in developing monolayers, with recruitment modulation controlling the transition to mature contractile junctions 5. Clinically, SRGAP1 dysregulation is implicated in cancer pathology: overexpression occurs in gastric cancer through downregulation of tumor-suppressive miRNAs (miR-340, miR-124), promoting cell proliferation and Wnt/β-catenin pathway activation 1. Germline SRGAP1 variants (Q149H, A275T, R617C) impair CDC42 inactivation and are associated with papillary thyroid carcinoma susceptibility 6, with SRGAP1 identified as a low-penetrant modifier gene in familial non-medullary thyroid cancer 7.

Sources cited
1
SRGAP1 shows anterior-to-posterior expression gradient in human neocortex, highly expressed anteriorly 8-12 weeks and confined to Layer V by 15 weeks with prominent expression in corticospinal projection neurons
PMID: 21060114
2
Neuronal Slit1-dependent signaling through Robo2-SRGAP1-RhoA promotes oligodendrocyte differentiation and myelination under hypoxic conditions
PMID: 40117292
3
SRGAP1 localizes to podocyte foot processes in vivo, controls small Rho GTPases to regulate podocyte foot-process architecture, and is redistributed in FSGS disease
PMID: 33514561
4
SRGAP1 as RhoA antagonist suppresses RhoA signaling and contractility at junctions in subconfluent cultures; regulated recruitment modulates contractility during epithelial junction maturation
PMID: 29160905
5
SRGAP1 is overexpressed in gastric cancer (75% of cell lines), functions as oncogene through Wnt/β-catenin pathway activation, and is downregulated by tumor-suppressive miR-340 and miR-124
PMID: 29234151
6
SRGAP1 missense variants (Q149H, A275T, R617C) segregate with papillary thyroid carcinoma and impair CDC42 inactivation ability
PMID: 23539728
7
SRGAP1 gene (12q14) identified as susceptibility gene for familial non-medullary thyroid cancer as a low-penetrant modifier gene
PMID: 27807061
Disease Associationsⓘ21
follicular thyroid carcinomaOpen Targets
0.63Moderate
congenital anomaly of kidney and urinary tractOpen Targets
0.43Moderate
congenital hydronephrosisOpen Targets
0.43Moderate
thyroid cancer, nonmedullary, 2Open Targets
0.41Moderate
preeclampsiaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.32Weak
cardiac arrestOpen Targets
0.31Weak
tricuspid valve diseaseOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
congenital anomaly of cardiovascular systemOpen Targets
0.26Weak
vertebral column disorderOpen Targets
0.25Weak
SplenomegalyOpen Targets
0.25Weak
ovarian neoplasmOpen Targets
0.25Weak
Sacroiliac arthritisOpen Targets
0.23Weak
pituitary gland diseaseOpen Targets
0.23Weak
Nasal polyposisOpen Targets
0.21Weak
chronic primary adrenal insufficiencyOpen Targets
0.18Weak
congenital anomalies of kidney and urinary tract 1Open Targets
0.12Weak
nephronophthisisOpen Targets
0.12Weak
diverticular diseaseOpen Targets
0.11Weak
Thyroid cancer, non-medullary, 2UniProt
Pathogenic Variants1
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)Pathogenic
Thyroid cancer, nonmedullary, 2
☆☆☆☆2013→ Residue 275
View on ClinVar ↗
Related Genes
SRGAP2BShared pathway100%CDC42Protein interaction99%SLIT3Protein interaction92%ROBO1Protein interaction84%ROBO2Protein interaction84%SLIT1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
66%
Lung
51%
Heart
29%
Liver
13%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
SRGAP1SRGAP2BCDC42SLIT3ROBO1ROBO2SLIT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z6B7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.35 [0.27–0.47]
RankingsWhere SRGAP1 stands among ~20K protein-coding genes
  • #9,138of 20,598
    Most Researched48
  • #5,116of 5,498
    Most Pathogenic Variants1
  • #2,697of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedSRGAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development.
PMID: 21060114
Cereb Cortex · 2011
1.00
2
A neuronal Slit1-dependent program rescues oligodendrocyte differentiation and myelination under chronic hypoxic conditions.
PMID: 40117292
Cell Rep · 2025
0.90
3
SRGAP1 Controls Small Rho GTPases To Regulate Podocyte Foot Process Maintenance.
PMID: 33514561
J Am Soc Nephrol · 2021
0.80
4
SRGAP1, a crucial target of miR-340 and miR-124, functions as a potential oncogene in gastric tumorigenesis.
PMID: 29234151
Oncogene · 2018
0.70
5
Identification and characterization of human ARHGAP23 gene in silico.
PMID: 15254754
Int J Oncol · 2004
0.60