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

Gene ID: 89839, updated on 17-Sep-2024

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
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Genomic context

See ARHGAP11B in Genome Data Viewer
Location:
15q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (30626128..30649229)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (28419321..28443019)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (30918331..30941432)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene 15q13.2-13.3 gamma inversion proximal recombination region Neighboring gene U8 small nucleolar RNA Neighboring gene ARHGAP11B divergent transcript Neighboring gene ULK4 pseudogene 2 Neighboring gene 15q13 proximal microdeletion recombination region Neighboring gene golgin A8 family member H Neighboring gene RNA, 7SL, cytoplasmic 628, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30917238-30918231 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:30918882-30919057 Neighboring gene OTU deubiquitinase 7A pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30988059-30988666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:30988667-30989274 Neighboring gene proximal CHRNA7 low-copy repeat recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31000717-31001312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:31001313-31001908 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:31066043-31066308 Neighboring gene putative golgin subfamily A member 8I Neighboring gene uncharacterized LOC124903453 Neighboring gene RNA, 7SL, cytoplasmic 82, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC104367

General protein information

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)

  1. NM_001039841.3NP_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:46226
    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

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    30626128..30649229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p14 PATCHES

    Range
    2798623..2822311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_012132920.1 Reference GRCh38.p14 PATCHES

    Range
    1878743..1902434 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2911075..2934763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    28419321..28443019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)