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    RHBDL2 rhomboid like 2 [ Homo sapiens (human) ]

    Gene ID: 54933, updated on 4-Jun-2017
    Official Symbol
    RHBDL2provided by HGNC
    Official Full Name
    rhomboid like 2provided by HGNC
    Primary source
    HGNC:HGNC:16083
    See related
    Ensembl:ENSG00000158315 MIM:608962; Vega:OTTHUMG00000000487
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RRP2
    Summary
    The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
    Orthologs
    Location:
    1p34.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (38885806..38941830, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39350614..39407456, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GJA9-MYCBP readthrough Neighboring gene uncharacterized LOC105378663 Neighboring gene MYC binding protein Neighboring gene gap junction protein alpha 9 Neighboring gene uncharacterized LOC105378662 Neighboring gene RNA, U6 small nuclear 605, pseudogene Neighboring gene eukaryotic translation initiation factor 1 pseudogene 2 Neighboring gene akirin 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: GJA9

    Homology

    Clone Names

    • MGC16997

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    rhomboid-related protein 2
    Names
    rhomboid (veinlet, Drosophila)-like 2
    rhomboid protease 2
    rhomboid, veinlet-like 2
    rhomboid-like protein 2
    NP_001291675.1
    NP_060291.2

    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_001304746.1NP_001291675.1  rhomboid-related protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001291675.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK294115, AL139260
      UniProtKB/TrEMBL
      B7Z1Y9
      Conserved Domains (1) summary
      pfam01694
      Location:194346
      Rhomboid; Rhomboid family
    2. NM_017821.4NP_060291.2  rhomboid-related protein 2 isoform 2

      See identical proteins and their annotated locations for NP_060291.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1, which results in variant 2 using a downstream translation start site compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK294115, AL139260, DB036310
      Consensus CDS
      CCDS30680.1
      UniProtKB/Swiss-Prot
      Q9NX52
      UniProtKB/TrEMBL
      B7Z1Y9
      Related
      ENSP00000362081.1, ENST00000372990.5
      Conserved Domains (1) summary
      pfam01694
      Location:114266
      Rhomboid; Rhomboid family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      38885806..38941830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      39466840..39522840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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