ARHGAP11B Rho GTPase activating protein 11B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP11Bprovided by HGNC
Official Full Name: Rho GTPase activating protein 11Bprovided by HGNC
Primary source: HGNC:HGNC:15782
See related: Ensembl:ENSG00000285077 MIM:616310; AllianceGenome:HGNC:15782
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B'-T; FAM7B1; GAP (1-8)
Summary: Predicted to enable GTPase activator activity. Involved in cerebral cortex development and negative regulation of mitochondrial membrane permeability. Acts upstream of with a positive effect on glutamine catabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bone marrow (RPKM 7.6), lymph node (RPKM 4.9) and 16 other tissues See more
Orthologs: all
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Genomic context

Location:: 15q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (30626128..30649229)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (28419321..28443019)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (30918331..30941432)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protooncogenic Role of ARHGAP11A and ARHGAP11B in Invasive Ductal Carcinoma: Two Promising Breast Cancer Biomarkers.
Title: Protooncogenic Role of ARHGAP11A and ARHGAP11B in Invasive Ductal Carcinoma: Two Promising Breast Cancer Biomarkers.
Human-specific ARHGAP11B ensures human-like basal progenitor levels in hominid cerebral organoids.
Title: Human-specific ARHGAP11B ensures human-like basal progenitor levels in hominid cerebral organoids.
Expression of human-specific ARHGAP11B in mice leads to neocortex expansion and increased memory flexibility.
Title: Expression of human-specific ARHGAP11B in mice leads to neocortex expansion and increased memory flexibility.
Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset.
Title: Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset.
an ARHGAP11B-induced, mitochondria-based effect on basal progenitor metabolism that is a hallmark of highly mitotically active cells appears to underlie its role in neocortex expansion.
Title: Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.
Human-specific ARHGAP11B induces hallmarks of neocortical expansion in developing ferret neocortex.
Title: Human-specific ARHGAP11B induces hallmarks of neocortical expansion in developing ferret neocortex.
The data also demonstrate that a single C-->G base substitution underlies the ARHGAP11B-mediated basal progenitor amplification implicated in neocortex expansion.
Title: A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification.
ARHGAP11B may have contributed to evolutionary expansion of human neocortex.
Title: Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity (Last evaluated 2023-03-28) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-03-28) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148860 (e-PCR)
- UniSTS:176651

RH103529 (e-PCR)
- UniSTS:97854

RH78987 (e-PCR)
- UniSTS:55103

RH77819 (e-PCR)
- UniSTS:91220

RH121527 (e-PCR)
- UniSTS:134268

D3S3152 (e-PCR)
- UniSTS:42629

SHGC-37549 (e-PCR)
- UniSTS:6045

STS-N90222 (e-PCR)
- UniSTS:54686

G17845 (e-PCR)
- UniSTS:16053

G17839 (e-PCR)
- UniSTS:56001

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebral cortex development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect glutamine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitochondrial membrane permeability	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: inactive Rho GTPase-activating protein 11B

Names: family with sequence similarity 7, member B1; rho GTPase-activating protein 11B; rho-type GTPase-activating protein 11B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001039841.3 → NP_001034930.1 inactive Rho GTPase-activating protein 11B

See identical proteins and their annotated locations for NP_001034930.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AC091057, AL556699, BC105788

Consensus CDS

CCDS32185.1

UniProtKB/Swiss-Prot

Q3KRB8

UniProtKB/TrEMBL

A0A2X0SFT2

Related

ENSP00000513489.1, ENST00000697964.2

Conserved Domains (1) summary

cd04394
Location:46 → 226

RhoGAP-ARHGAP11A; RhoGAP-ARHGAP11A: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP11A-like proteins. The mouse homolog of human ArhGAP11A has been detected as a gene exclusively expressed in immature ganglion cells, potentially playing ...

RNA

NR_148423.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC091057