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RHBDL2 rhomboid like 2 [ Homo sapiens (human) ]

Gene ID: 54933, updated on 2-Aug-2021

Summary

Official Symbol
RHBDL2provided by HGNC
Official Full Name
rhomboid like 2provided by HGNC
Primary source
HGNC:HGNC:16083
See related
Ensembl:ENSG00000158315 MIM:608962
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]
Expression
Biased expression in colon (RPKM 9.9), skin (RPKM 6.4) and 10 other tissues See more
Orthologs
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Genomic context

See RHBDL2 in Genome Data Viewer
Location:
1p34.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (38885807..38941830, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39351479..39407502, 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

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

Associated conditions

Description Tests
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: GJA9

Homology

Clone Names

  • MGC16997

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_001304746.2NP_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_017821.5NP_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, ENST00000372990.6
    Conserved Domains (1) summary
    pfam01694
    Location:114265
    Rhomboid; Rhomboid family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    38885807..38941830 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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