SRGAP2B

protein-coding

SLIT-ROBO Rho GTPase activating protein 2B, the group of Small nucleolar RNA protein coding host genes|F-BAR domain containing

Gene summary

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]

Previous symbols:

SRGAP2P2

MANE transcript

NM_001271870.5

Inheritance

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ClinVar variants

—

Top phenotype

—

Max pathogenic AF

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Genomic locus

chr1:144,887,265-145,095,528

External References & Databases

Ensembl (ENSG00000196369)

Transcript & Mutation Effects

hg38 • Region Span ~208.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SRGAP2B variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001271870.5	RefSeq	NP_001258799.2	9	MANE Select
ENST00000641863.3	Ensembl	ENSP00000493121.1	9	MANE Select
NM_001330684.2	RefSeq	NP_001317613.1	6	Standard
NM_001366280.2	RefSeq	NP_001353209.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

nervous system development
negative regulation of cell migration

Molecular Function

Rac GTPase binding

Cellular Component

cytoplasm

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2. {ECO:0000305|PubMed:22559944}.;