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Aliases for RHBDL2 Gene

Aliases for RHBDL2 Gene

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

External Ids for RHBDL2 Gene

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

Genomic Location for RHBDL2 Gene

Start:
38,885,807 bp from pter
End:
38,941,799 bp from pter
Size:
55,993 bases
Orientation:
Minus strand

Genomic View for RHBDL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDL2 Gene

Regulatory Elements 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.

Other Protein References for RHBDL2 Gene

No data available for DME Specific Peptides for RHBDL2 Gene

Domains for RHBDL2 Gene

UniProtKB/Swiss-Prot:

RHBL2_HUMAN
Family:
  • Belongs to the peptidase S54 family.:
    • Q9NX52
genes like me logo Genes that share domains with RHBDL2: view

No data available for Gene Families for RHBDL2 Gene

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

Gene Ontology (GO) - Molecular Function for RHBDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 19850051
genes like me logo Genes that share ontologies with RHBDL2: view

Phenotypes for RHBDL2 Gene

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

miRNA for RHBDL2 Gene

miRTarBase miRNAs that target RHBDL2

No data available for Animal Models , Transcription Factor Targeting 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
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RHBDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 19850051
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDL2: view

Pathways for RHBDL2 Gene

SuperPathways for RHBDL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with RHBDL2: view

No data available for Pathways by source for RHBDL2 Gene

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 (5.7) and Brain - Spinal cord (cervical c-1) (4.8).

Integrated Proteomics: protein expression 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 expressions with RHBDL2: view

Orthologs for RHBDL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHBDL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHBDL2 36
  • 99.45 (n)
  • 100 (a)
RHBDL2 37
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDL2 36
  • 88.33 (n)
  • 88.33 (a)
RHBDL2 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDL2 36
  • 90.32 (n)
  • 90.43 (a)
RHBDL2 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdl2 36
  • 84.44 (n)
  • 84.44 (a)
Rhbdl2 16
Rhbdl2 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDL2 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDL2 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdl2 36
  • 85.12 (n)
  • 88.7 (a)
lizard
(Anolis carolinensis)
Reptilia RHBDL2 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdl2 36
  • 70.83 (n)
  • 74.62 (a)
zebrafish
(Danio rerio)
Actinopterygii rhbdl2 36
  • 68.77 (n)
  • 69.26 (a)
rhbdl2 37
  • 64 (a)
OneToOne
zgc55533 36
fruit fly
(Drosophila melanogaster)
Insecta rho-6 37
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rom-1 36
  • 51.85 (n)
  • 40.89 (a)
rom-1 37
  • 26 (a)
OneToMany
rom-2 37
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs942840 -- 38,917,672(-) TTTCA(C/T)TGTGA intron-variant
rs942841 -- 38,917,494(-) AAACC(A/T)CAATT intron-variant
rs1047865 -- 38,926,314(+) ACAAA(C/G)GCAGC intron-variant
rs1122105 -- 38,925,830(-) CTTTA(C/T)GTAGT intron-variant
rs1925675 -- 38,918,186(+) tgatt(C/G)tgttt 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

Relevant External Links for RHBDL2 Gene

HapMap Linkage Disequilibrium report
RHBDL2

Disorders for RHBDL2 Gene

Relevant External Links for RHBDL2

Genetic Association Database (GAD)
RHBDL2
Human Genome Epidemiology (HuGE) Navigator
RHBDL2
genes like me logo Genes that share disorders with RHBDL2: view

No data available for UniProtKB/Swiss-Prot 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
  2. Drosophila Rhomboid-1 defines a family of putative intramembrane serine proteases. (PMID: 11672525) Urban S. … Freeman M. (Cell 2001) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for RHBDL2 Gene

Sources for RHBDL2 Gene

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