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Rhbdd2 rhomboid domain containing 2 [ Mus musculus (house mouse) ]

Gene ID: 215160, updated on 11-Apr-2024

Summary

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Official Symbol
Rhbdd2provided by MGI
Official Full Name
rhomboid domain containing 2provided by MGI
Primary source
MGI:MGI:1915612
See related
Ensembl:ENSMUSG00000039917 AllianceGenome:MGI:1915612
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Usmg1; Rhbdl7; 0610011L13Rik
Summary
Predicted to enable serine-type endopeptidase activity. Located in Golgi membrane and perinuclear region of cytoplasm. Is expressed in several structures, including eye; gonad; hemolymphoid system gland; liver; and lung. Orthologous to human RHBDD2 (rhomboid domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 19.1), ovary adult (RPKM 12.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Rhbdd2 in Genome Data Viewer
Location:
5 G2; 5 75.31 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135661508..135675230)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135632654..135646376)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine ligand 26 Neighboring gene C-C motif chemokine ligand 24 Neighboring gene STARR-seq mESC enhancer starr_14582 Neighboring gene STARR-positive B cell enhancer ABC_E9264 Neighboring gene STARR-seq mESC enhancer starr_14584 Neighboring gene STARR-seq mESC enhancer starr_14585 Neighboring gene predicted gene 15607 Neighboring gene STARR-positive B cell enhancer ABC_E435 Neighboring gene cytochrome p450 oxidoreductase Neighboring gene predicted gene, 40345 Neighboring gene 40S ribosomal protein S2 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Focal adhesion protein zyxin is a mechanosensitive modulator of gene expression in vascular smooth muscle cells. Cattaruzza M, et al. Hypertension, 2004 Apr. PMID 14967842
  2. Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa. Ahmedli NB, et al. J Biol Chem, 2013 Apr 5. PMID 23386608, Free PMC Article
  3. Upregulation of μ3A Drives Homeostatic Plasticity by Rerouting AMPAR into the Recycling Endosomal Pathway. Steinmetz CC, et al. Cell Rep, 2016 Sep 6. PMID 27568566, Free PMC Article
  4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RHBDD2 protein plays important roles in the development and normal function of the retina
    Title: Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC18730

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
rhomboid domain-containing protein 2
Names
rhomboid, veinlet-like 7
rhomboid-like protein 7
upregulated during skeletal muscle growth 1

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_001357037.1 → NP_001343966.1  rhomboid domain-containing protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC083948
    Conserved Domains (1) summary
    cl21536
    Location:1 → 56
    Rhomboid; Rhomboid family

  2. NM_146002.2 → NP_666114.1  rhomboid domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_666114.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC083948, AK041845, AK140006
    Consensus CDS
    CCDS19743.1
    UniProtKB/Swiss-Prot
    Q3TT71, Q4G0C4, Q8VEK2
    Related
    ENSMUSP00000049060.7, ENSMUST00000043707.7
    Conserved Domains (1) summary
    pfam01694
    Location:54 → 201
    Rhomboid; Rhomboid family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    135661508..135675230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030254359.2 → XP_030110219.1  rhomboid domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    cl21536
    Location:1 → 56
    Rhomboid; Rhomboid family

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_031398.1: Suppressed sequence

    Description
    NM_031398.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8VEK2.1 GenPept UniProtKB/Swiss-Prot:Q8VEK2

Gene LinkOut

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

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