Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RHBDL2 Gene

Aliases for RHBDL2 Gene

  • Rhomboid Like 2 2 3 5
  • Rhomboid (Veinlet, Drosophila)-Like 2 2 3
  • Rhomboid-Like Protein 2 3 4
  • RRP2 3 4
  • Rhomboid, Veinlet-Like 2 (Drosophila) 2
  • Rhomboid-Related Protein 2 3
  • Rhomboid, Veinlet-Like 2 3
  • 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 Like 2) 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F038961 1 Ensembl ENCODE 17.5 -20.2 -20205 1.9 ELF3 SOX13 KLF1 SAP130 ARID4B ZNF384 CEBPG ZNF644 RARA TEAD3 RHBDL2 AKIRIN1 GJA9 MYCBP NDUFS5 EIF1P2
GH01F038977 1.1 ENCODE 11.5 -35.9 -35928 0.6 ZNF316 EMSY TRIM28 SETDB1 RHBDL2 AKIRIN1 EIF1P2
GH01F038997 0.2 ENCODE 11 -56.2 -56194 0.2 NR3C1 RHBDL2 GJA9 MYCBP AKIRIN1 PIR42637
GH01F038998 0.2 Ensembl 11 -55.7 -55671 0.2 RHBDL2 GJA9 MYCBP LOC105378663 AKIRIN1 PIR42637
GH01F038996 0.2 Ensembl 11 -55.1 -55071 0.2 POLR2A NDUFS5 RHBDL2 GJA9 MYCBP LOC105378663 AKIRIN1 PIR42637
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000534823 329 1000 ZMYM3 MXD4 CEBPB ZNF384 CEBPG RAD21 OSR2 ZNF121 JUND CEBPA

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

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

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

Gene Ontology (GO) - Molecular Function for RHBDL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 19850051
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RHBDL2: view
genes like me logo Genes that share phenotypes with RHBDL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RHBDL2

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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 IEA,IDA 19850051
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016485 protein processing IBA --
genes like me logo Genes that share ontologies with RHBDL2: view

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

Transcripts for RHBDL2 Gene

Unigene Clusters for RHBDL2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for RHBDL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RHBDL2 Gene:

RHBDL2

SOURCE GeneReport for Unigene cluster for RHBDL2 Gene:

Hs.524626
genes like me logo Genes that share expression patterns with RHBDL2: view

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
chimpanzee
(Pan troglodytes)
Mammalia RHBDL2 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia RHBDL2 34 35
  • 90.32 (n)
cow
(Bos Taurus)
Mammalia RHBDL2 34 35
  • 88.33 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdl2 34
  • 85.12 (n)
mouse
(Mus musculus)
Mammalia Rhbdl2 34 16 35
  • 84.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDL2 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDL2 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHBDL2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdl2 34
  • 70.83 (n)
zebrafish
(Danio rerio)
Actinopterygii rhbdl2 34 35
  • 68.77 (n)
zgc55533 34
fruit fly
(Drosophila melanogaster)
Insecta rho-6 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rom-1 34 35
  • 51.85 (n)
rom-2 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToOne
Species where no ortholog for RHBDL2 was found in the sources mined by GeneCards:
  • 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
rs1047865 -- 38,926,314(+) ACAAA(C/G)GCAGC intron-variant
rs10579780 -- 38,933,745(+) TTTTT(-/TT)GAGAC intron-variant
rs10661104 -- 38,942,689(+) GTCTC(-/A/AA/AAA)CAAAA upstream-variant-2KB
rs10749676 -- 38,933,197(+) ctgtt(A/C)ctgga intron-variant
rs10749677 -- 38,933,467(+) TATGA(C/G)CTCCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3585774 CNV loss 21293372
esv3585775 CNV loss 21293372
nsv1145336 CNV deletion 24896259
nsv1160833 CNV duplication 26073780
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)

Relevant External Links for RHBDL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  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 46 64
  3. 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 46 64
  4. The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its proteolytic activity. (PMID: 19850051) Lei X. … Li Y.M. (J. Mol. Biol. 2009) 3 4 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for RHBDL2 Gene

Sources for RHBDL2 Gene

Content
Loading form....