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

    Gene ID: 79874, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:24817
    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
    Summary
    Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in cytosol; intracellular membrane-bounded organelle; and microtubule organizing center. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 13.2), spleen (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RABEP2 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (28904421..28925238, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29184915..29206347, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28915742..28936559, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10645 Neighboring gene MPRA-validated peak2552 silencer Neighboring gene SH2B adaptor protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10646 Neighboring gene Sharpr-MPRA regulatory region 4004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28885274-28885774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28885775-28886275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28890195-28890968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7315 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28894492-28895301 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28917069-28917917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:28937019-28937602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10652 Neighboring gene CD19 molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28961580-28962114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:28962134-28962634 Neighboring gene NFATC2IP antisense RNA 1 Neighboring gene nuclear factor of activated T cells 2 interacting protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Rab-GTPase binding effector protein 2 (RABEP2) is a primed substrate for Glycogen Synthase kinase-3 (GSK3). Logie L, et al. Sci Rep, 2017 Dec 15. PMID 29247183, Free PMC Article
    2. A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes. Lee HK, et al. Am J Hum Genet, 2022 Oct 6. PMID 36167069, Free PMC Article
    3. Carcinogenic Helicobacter pylori Strains Selectively Dysregulate the In Vivo Gastric Proteome, Which May Be Associated with Stomach Cancer Progression. Noto JM, et al. Mol Cell Proteomics, 2019 Feb. PMID 30455363, Free PMC Article
    4. FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders. Chiappetta G, et al. BMC Cancer, 2007 Jan 25. PMID 17254320, Free PMC Article
    5. The role of proline-rich protein tyrosine kinase 2 in differentiation-dependent signaling in human epidermal keratinocytes. Schindler EM, et al. J Invest Dermatol, 2007 May. PMID 17205062

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes.
      Title: A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes.
    2. Results found that H. pylori upregulates RABEP2 in human gastric epithelium. In addition, the level of RABEP2 expression increases with severity of gastric malignant lesions in vivo.
      Title: Carcinogenic Helicobacter pylori Strains Selectively Dysregulate the In Vivo Gastric Proteome, Which May Be Associated with Stomach Cancer Progression.
    3. Phosphorylation regulates RABEP2 function.
      Title: Rab-GTPase binding effector protein 2 (RABEP2) is a primed substrate for Glycogen Synthase kinase-3 (GSK3).
    4. FRA-1 expression, including its intracellular localization, may be considered a useful marker for hyperplastic and neoplastic proliferative breast disorders
      Title: FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders.
    5. Pyk2 regulation is associated with increased expression of Fra-1 and JunD, activator protein-1 transcription factors known to be required for involucrin expression.
      Title: The role of proline-rich protein tyrosine kinase 2 in differentiation-dependent signaling in human epidermal keratinocytes.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23282

    Gene Ontology Provided by GOA

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

    General protein information

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

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

      Status: VALIDATED

      Source sequence(s)
      AC109460, AK026935, BC046118
      Consensus CDS
      CCDS42140.1
      UniProtKB/Swiss-Prot
      Q9H5N1
      UniProtKB/TrEMBL
      B3KRW4
      Related
      ENSP00000350934.4, ENST00000358201.9
      Conserved Domains (1) summary
      pfam09311
      Location:291 → 546
      Rab5-bind; Rabaptin-like protein

    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_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      29184915..29206347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5N1.2 GenPept UniProtKB/Swiss-Prot:Q9H5N1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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