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Aliases for RHBDL2 Gene

Aliases for RHBDL2 Gene

  • Rhomboid, Veinlet-Like 2 (Drosophila) 2 3 5
  • Rhomboid (Veinlet, Drosophila)-Like 2 2 3
  • Rhomboid-Like Protein 2 3 4
  • RRP2 3 4
  • Rhomboid Protease 2 3
  • EC 3.4.21.105 4

External Ids for RHBDL2 Gene

Previous GeneCards Identifiers for RHBDL2 Gene

  • GC01M039276
  • GC01M038359
  • GC01M038815
  • GC01M038765
  • GC01M039021
  • GC01M039124
  • GC01M039351
  • GC01M037469

Summaries for RHBDL2 Gene

Entrez Gene Summary for RHBDL2 Gene

  • 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]

GeneCards Summary for RHBDL2 Gene

RHBDL2 (Rhomboid, Veinlet-Like 2 (Drosophila)) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is RHBDL1.

UniProtKB/Swiss-Prot for RHBDL2 Gene

  • Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDL2 Gene

Genomics for RHBDL2 Gene

Regulatory Elements for RHBDL2 Gene

Enhancers for RHBDL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RHBDL2 on UCSC Golden Path with GeneCards custom track

Promoters for RHBDL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RHBDL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RHBDL2 Gene

Chromosome:
1
Start:
38,885,806 bp from pter
End:
38,941,830 bp from pter
Size:
56,025 bases
Orientation:
Minus strand

Genomic View for RHBDL2 Gene

Genes around RHBDL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHBDL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHBDL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDL2 Gene

Proteins for RHBDL2 Gene

  • Protein details for RHBDL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX52-RHBL2_HUMAN
    Recommended name:
    Rhomboid-related protein 2
    Protein Accession:
    Q9NX52
    Secondary Accessions:
    • B2RNT3
    • B9EH75
    • Q6P175
    • Q8NER8
    • Q96E02

    Protein attributes for RHBDL2 Gene

    Size:
    303 amino acids
    Molecular mass:
    34021 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH13103.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91168.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for RHBDL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDL2 Gene

Proteomics data for RHBDL2 Gene at MOPED

Post-translational modifications for RHBDL2 Gene

  • Proteolytic processing of the proenzyme produces a N-terminal fragment (NTF) and a C-terminal fragment (CTF). The processing is required for activation of the protease.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RHBDL2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for RHBDL2

No data available for DME Specific Peptides for RHBDL2 Gene

Domains & Families for RHBDL2 Gene

Gene Families for RHBDL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NX52

UniProtKB/Swiss-Prot:

RHBL2_HUMAN :
  • Belongs to the peptidase S54 family.
Family:
  • Belongs to the peptidase S54 family.
genes like me logo Genes that share domains with RHBDL2: view

Function for RHBDL2 Gene

Molecular function for RHBDL2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains.
UniProtKB/Swiss-Prot Function:
Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.

Enzyme Numbers (IUBMB) for RHBDL2 Gene

genes like me logo Genes that share phenotypes with RHBDL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RHBDL2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RHBDL2 Gene

Localization for RHBDL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDL2 Gene

Rhomboid-related protein 2, C-terminal fragment: Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RHBDL2 Gene COMPARTMENTS Subcellular localization image for RHBDL2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RHBDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IBA --
GO:0005886 plasma membrane IDA 19850051
genes like me logo Genes that share ontologies with RHBDL2: view

Pathways & Interactions for RHBDL2 Gene

SuperPathways for RHBDL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDL2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RHBDL2 Gene

Drugs & Compounds for RHBDL2 Gene

No Compound Related Data Available

Transcripts for RHBDL2 Gene

Unigene Clusters for RHBDL2 Gene

Rhomboid, veinlet-like 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL2 Gene

No ASD Table

Relevant External Links for RHBDL2 Gene

GeneLoc Exon Structure for
RHBDL2
ECgene alternative splicing isoforms for
RHBDL2

Expression for RHBDL2 Gene

mRNA expression in normal human tissues for RHBDL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHBDL2 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.7) and Brain - Spinal cord (cervical c-1) (x4.8).

Protein differential expression in normal tissues from HIPED for RHBDL2 Gene

This gene is overexpressed in Testis (44.4), Frontal cortex (14.6), and Peripheral blood mononuclear cells (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHBDL2 Gene



SOURCE GeneReport for Unigene cluster for RHBDL2 Gene Hs.524626

genes like me logo Genes that share expression patterns with RHBDL2: view

Protein tissue co-expression partners for RHBDL2 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for RHBDL2 Gene

Orthologs for RHBDL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHBDL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RHBDL2 35
  • 88.33 (n)
  • 88.33 (a)
RHBDL2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDL2 35
  • 90.32 (n)
  • 90.43 (a)
RHBDL2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdl2 35
  • 84.44 (n)
  • 84.44 (a)
Rhbdl2 16
Rhbdl2 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RHBDL2 35
  • 99.45 (n)
  • 100 (a)
RHBDL2 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdl2 35
  • 85.12 (n)
  • 88.7 (a)
oppossum
(Monodelphis domestica)
Mammalia RHBDL2 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDL2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHBDL2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdl2 35
  • 70.83 (n)
  • 74.62 (a)
zebrafish
(Danio rerio)
Actinopterygii rhbdl2 35
  • 68.77 (n)
  • 69.26 (a)
zgc55533 35
rhbdl2 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rho-6 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rom-1 35
  • 51.85 (n)
  • 40.89 (a)
rom-1 36
  • 26 (a)
OneToMany
rom-2 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for RHBDL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHBDL2 Gene

ENSEMBL:
Gene Tree for RHBDL2 (if available)
TreeFam:
Gene Tree for RHBDL2 (if available)

Paralogs for RHBDL2 Gene

Paralogs for RHBDL2 Gene

(2) SIMAP similar genes for RHBDL2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RHBDL2: view

Variants for RHBDL2 Gene

Sequence variations from dbSNP and Humsavar for RHBDL2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2147914 - 38,886,599(-) CACTG(A/C)TGAAA reference, missense
rs2094081 -- 38,927,359(+) GAGGC(A/G)GAGGT intron-variant
rs4388668 -- 38,895,058(+) CCCCA(A/T)ATTTT intron-variant
rs4636421 -- 38,912,359(+) cttgg(C/T)ctccc intron-variant
rs4414011 -- 38,888,845(+) CTTAG(C/T)AGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RHBDL2 Gene

Variant ID Type Subtype PubMed ID
nsv871872 CNV Gain 21882294
nsv435884 CNV Deletion 17901297
nsv518731 CNV Loss 19592680

Variation tolerance for RHBDL2 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.10; 90.23% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RHBDL2 Gene

Disorders for RHBDL2 Gene

Relevant External Links for RHBDL2

Genetic Association Database (GAD)
RHBDL2
Human Genome Epidemiology (HuGE) Navigator
RHBDL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHBDL2

No disorders were found for RHBDL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHBDL2 Gene

Publications for RHBDL2 Gene

  1. Intramembrane cleavage of ephrinB3 by the human rhomboid family protease, RHBDL2. (PMID: 15047175) Pascall J.C. … Brown K.D. (Biochem. Biophys. Res. Commun. 2004) 3 4 23 67
  2. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L. … Lunetta K.L. (Nat. Genet. 2012) 3
  3. Mammalian EGF receptor activation by the rhomboid protease RHBDL2. (PMID: 21494248) Adrain C. … Freeman M. (EMBO Rep. 2011) 3
  4. Functions of rhomboid family protease RHBDL2 and thrombomodulin in wound healing. (PMID: 21833011) Cheng T.L. … Wu H.L. (J. Invest. Dermatol. 2011) 3
  5. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J. … Isaacs W.B. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3

Products for RHBDL2 Gene

Sources for RHBDL2 Gene

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