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RABEP2 rabaptin, RAB GTPase binding effector protein 2 [ Homo sapiens (human) ]

Gene ID: 79874, updated on 1-Jun-2020

Summary

Official Symbol
RABEP2provided by HGNC
Official Full Name
rabaptin, RAB GTPase binding effector protein 2provided by HGNC
Primary source
HGNC:HGNC:24817
See related
Ensembl:ENSG00000177548 MIM:611869
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
FRA
Expression
Ubiquitous expression in prostate (RPKM 13.2), spleen (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See RABEP2 in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28904421..28925238, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28915742..28937339, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SH2B adaptor protein 1 Neighboring gene Sharpr-MPRA regulatory region 4004 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene CD19 molecule Neighboring gene nuclear factor of activated T cells 2 interacting protein Neighboring gene microRNA 4517

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23282

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rab GTPase-binding effector protein 2
Names
Rabaptin-5 beta
rabaptin-5beta

NCBI Reference Sequences (RefSeq)

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_024816.3NP_079092.2  rab GTPase-binding effector protein 2

    See identical proteins and their annotated locations for NP_079092.2

    Status: VALIDATED

    Source sequence(s)
    AC109460, AK026935, BC046118
    Consensus CDS
    CCDS42140.1
    UniProtKB/Swiss-Prot
    Q9H5N1
    Related
    ENSP00000350934.4, ENST00000358201.9
    Conserved Domains (1) summary
    pfam09311
    Location:291546
    Rab5-bind; Rabaptin-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    28904421..28925238 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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