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Aliases for RHBDD2 Gene

Aliases for RHBDD2 Gene

  • Rhomboid Domain Containing 2 2 3 5
  • RHBDL7 3 4
  • Rhomboid, Veinlet-Like 7 (Drosophila) 2
  • Rhomboid Domain-Containing Protein 2 3
  • Rhomboid, Veinlet-Like 7 3
  • NPD007 3

External Ids for RHBDD2 Gene

Previous HGNC Symbols for RHBDD2 Gene

  • RHBDL7

Previous GeneCards Identifiers for RHBDD2 Gene

  • GC07P075346
  • GC07P075471
  • GC07P070594

Summaries for RHBDD2 Gene

Entrez Gene Summary for RHBDD2 Gene

  • The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]

GeneCards Summary for RHBDD2 Gene

RHBDD2 (Rhomboid Domain Containing 2) is a Protein Coding gene. Diseases associated with RHBDD2 include Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity.

Additional gene information for RHBDD2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDD2 Gene

Genomics for RHBDD2 Gene

GeneHancer (GH) Regulatory Elements for RHBDD2 Gene

Promoters and enhancers for RHBDD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I075877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.5 +36.5 36464 3.1 HDGF ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B RHBDD2 STAG3L1 PMS2P3 NSUN5P1 MDH2 SPDYE5 ENSG00000214243 CCL24 STYXL1 POR
GH07I075841 Enhancer 1.2 Ensembl ENCODE 555.4 +0.6 567 2.5 ATF1 FOXA2 ARNT IRF4 TCF12 ZNF766 FOS ATF7 RUNX3 CAVIN1 RHBDD2 PMS2P3 STAG3L1 GTF2IRD2 GTF2IRD2B NSUN5P1 CCL26 POR SNORA14A CCL24
GH07I075913 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 17.2 +76.2 76157 9.5 CLOCK MLX DMAP1 IRF4 YY1 ZNF143 SP3 SSRP1 GLIS1 RCOR2 POR RHBDD2 PMS2P3 STAG3L1 SNORA14A NSUN5P1 GTF2IRD2B LOC100133091 CCL26 ZP3
GH07I075953 Enhancer 1.3 Ensembl ENCODE dbSUPER 11 +116.2 116158 10.7 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ATF7 FOS PAF1 RXRA POR ZP3 CCL26 RHBDD2 CCL24 SRRM3 ENSG00000230882 UPK3B MDH2 GTF2IP1
GH07I076008 Enhancer 1 Ensembl ENCODE dbSUPER 11.7 +168.0 168048 4.6 CBFB EBF1 BATF RELA ZNF316 SCRT2 IKZF1 MLLT1 ETV6 IKZF2 STYXL1 MDH2 ENSG00000230882 SNORA14A POR RHBDD2 CCL24 SRRM3 UPK3B TMEM120A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHBDD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHBDD2 gene promoter:

Genomic Locations for RHBDD2 Gene

Genomic Locations for RHBDD2 Gene
46,325 bases
Plus strand

Genomic View for RHBDD2 Gene

Genes around RHBDD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHBDD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHBDD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDD2 Gene

Proteins for RHBDD2 Gene

  • Protein details for RHBDD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Rhomboid domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • Q7L534
    • Q9H5W6
    • Q9HBK7
    • Q9UDT2

    Protein attributes for RHBDD2 Gene

    364 amino acids
    Molecular mass:
    39202 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAG09733.1; Type=Frameshift; Positions=197, 284, 349; Evidence={ECO:0000305}; Sequence=AAH06234.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RHBDD2 Gene


neXtProt entry for RHBDD2 Gene

Post-translational modifications for RHBDD2 Gene

  • Ubiquitination at Lys51 and Lys230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RHBDD2 Gene

Domains & Families for RHBDD2 Gene

Gene Families for RHBDD2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for RHBDD2 Gene

Suggested Antigen Peptide Sequences for RHBDD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S54 family.
  • Belongs to the peptidase S54 family.
genes like me logo Genes that share domains with RHBDD2: view

Function for RHBDD2 Gene

Phenotypes From GWAS Catalog for RHBDD2 Gene

Gene Ontology (GO) - Molecular Function for RHBDD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
genes like me logo Genes that share ontologies with RHBDD2: view
genes like me logo Genes that share phenotypes with RHBDD2: view

Animal Model Products

CRISPR Products

miRNA for RHBDD2 Gene

miRTarBase miRNAs that target RHBDD2

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RHBDD2 Gene

Localization for RHBDD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDD2 Gene

Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHBDD2 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHBDD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RHBDD2: view

Pathways & Interactions for RHBDD2 Gene

SuperPathways for RHBDD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with RHBDD2: view

No data available for Pathways by source and SIGNOR curated interactions for RHBDD2 Gene

Drugs & Compounds for RHBDD2 Gene

No Compound Related Data Available

Transcripts for RHBDD2 Gene

Unigene Clusters for RHBDD2 Gene

Rhomboid domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b
SP2: -
SP3: - - - - -
SP4: - - - - -
SP6: - - - - - -
SP8: - -

Relevant External Links for RHBDD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RHBDD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHBDD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RHBDD2 Gene

This gene is overexpressed in Nasal epithelium (53.3) and Fetal Brain (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RHBDD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RHBDD2 Gene:


SOURCE GeneReport for Unigene cluster for RHBDD2 Gene:


Evidence on tissue expression from TISSUES for RHBDD2 Gene

  • Nervous system(4.9)
  • Pancreas(3.4)
  • Eye(2.8)
  • Lung(2.7)
  • Skin(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with RHBDD2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDD2 Gene

Orthologs for RHBDD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RHBDD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RHBDD2 33 34
  • 99.54 (n)
(Canis familiaris)
Mammalia RHBDD2 33 34
  • 87.88 (n)
(Bos Taurus)
Mammalia RHBDD2 33 34
  • 86.87 (n)
(Mus musculus)
Mammalia Rhbdd2 33 16 34
  • 85.69 (n)
(Rattus norvegicus)
Mammalia Rhbdd2 33
  • 84.58 (n)
(Ornithorhynchus anatinus)
Mammalia RHBDD2 34
  • 41 (a)
(Gallus gallus)
Aves RHBDD2 33
  • 62.96 (n)
(Anolis carolinensis)
Reptilia RHBDD2 34
  • 44 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd2 33
  • 50.39 (n)
(Danio rerio)
Actinopterygii rhbdd2 34
  • 23 (a)
Species where no ortholog for RHBDD2 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RHBDD2 Gene

Gene Tree for RHBDD2 (if available)
Gene Tree for RHBDD2 (if available)

Paralogs for RHBDD2 Gene

(2) SIMAP similar genes for RHBDD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RHBDD2: view

No data available for Paralogs for RHBDD2 Gene

Variants for RHBDD2 Gene

Sequence variations from dbSNP and Humsavar for RHBDD2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs11547498 uncertain-significance, not provided 75,881,904(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000275251 -- 75,878,761(+) C/A upstream_transcript_variant
rs1000557316 -- 75,877,482(+) G/T upstream_transcript_variant
rs1000604572 -- 75,877,158(+) G/A upstream_transcript_variant
rs1000872592 -- 75,888,481(+) T/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RHBDD2 Gene

Variant ID Type Subtype PubMed ID
dgv120n16 CNV deletion 17901297
nsv528969 CNV gain 19592680

Variation tolerance for RHBDD2 Gene

Residual Variation Intolerance Score: 16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHBDD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDD2 Gene

Disorders for RHBDD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RHBDD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RHBDD2

genes like me logo Genes that share disorders with RHBDD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHBDD2 Gene

Publications for RHBDD2 Gene

  1. Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa. (PMID: 23386608) Ahmedli NB … Farber DB (The Journal of biological chemistry 2013) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente XS … López-Otín C (Nature reviews. Genetics 2003) 2 3 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for RHBDD2 Gene

Sources for RHBDD2 Gene

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