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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. 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

Regulatory Elements for RHBDD2 Gene

Enhancers for RHBDD2 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
GH07H075913 1.4 ENCODE dbSUPER 17.2 +76.2 76158 9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 LOC100133091 PMS2P3 STAG3L1 RHBDD2 SNORA14A NSUN5P1 GTF2IRD2B CCL26 POMZP3 POR
GH07H075953 1.5 Ensembl ENCODE dbSUPER 10.9 +116.2 116158 10 PKNOX1 FOXA2 MLX ARID4B DMAP1 ATF7 FOS PAF1 REST PPARG POR ZP3 CCL26 RHBDD2 CCL24 SRRM3 ENSG00000230882 UPK3B MDH2 GTF2IP1
GH07H076008 1.2 Ensembl ENCODE dbSUPER 11.7 +168.0 168049 4 CBFB EBF1 BATF RELA ZNF316 EED SCRT2 IKZF1 ETV6 MLLT1 STYXL1 MDH2 ENSG00000230882 SNORA14A POR RHBDD2 CCL24 SRRM3 UPK3B TMEM120A
GH07H076104 1.2 Ensembl ENCODE 10.4 +264.9 264911 5 FOXA2 ARID4B SIN3A YY1 FOS SP5 REST KAT8 SREBF1 NFIL3 STYXL1 MDH2 ENSG00000230882 SRRM3 CCL26 RHBDD2 ENSG00000213549 RNU6-863P
GH07H076086 1.1 Ensembl ENCODE 10.8 +245.8 245843 4 PKNOX1 SIN3A ZBTB7B ELK1 ZNF207 FOS RCOR1 ELK4 ELF1 ZNF592 STYXL1 MDH2 ENSG00000230882 PMS2P3 STAG3L1 NSUN5P1 GTF2IRD2B SRRM3 RHBDD2 POMZP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHBDD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RHBDD2 Gene

Chromosome:
7
Start:
75,842,602 bp from pter
End:
75,888,926 bp from pter
Size:
46,325 bases
Orientation:
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:
    Q6NTF9-RHBD2_HUMAN
    Recommended name:
    Rhomboid domain-containing protein 2
    Protein Accession:
    Q6NTF9
    Secondary Accessions:
    • Q7L534
    • Q9H5W6
    • Q9HBK7
    • Q9UDT2

    Protein attributes for RHBDD2 Gene

    Size:
    364 amino acids
    Molecular mass:
    39202 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDD2 Gene

Post-translational modifications for RHBDD2 Gene

  • Ubiquitination at isoforms=251 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

HGNC:
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

Q6NTF9

UniProtKB/Swiss-Prot:

RHBD2_HUMAN :
  • Belongs to the peptidase S54 family.
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

Clone Products

  • Applied Biological Materials Clones for RHBDD2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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 IEA,IDA --
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

Clone Products

  • Applied Biological Materials Clones for RHBDD2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
SP1:
SP2: -
SP3: - - - - -
SP4: - - - - -
SP5:
SP6: - - - - - -
SP7:
SP8: - -

Relevant External Links for RHBDD2 Gene

GeneLoc Exon Structure for
RHBDD2
ECgene alternative splicing isoforms for
RHBDD2

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:

RHBDD2

SOURCE GeneReport for Unigene cluster for RHBDD2 Gene:

Hs.488827

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia RHBDD2 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia RHBDD2 33 34
  • 87.88 (n)
cow
(Bos Taurus)
Mammalia RHBDD2 33 34
  • 86.87 (n)
mouse
(Mus musculus)
Mammalia Rhbdd2 33 16 34
  • 85.69 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdd2 33
  • 84.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD2 34
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHBDD2 33
  • 62.96 (n)
lizard
(Anolis carolinensis)
Reptilia RHBDD2 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd2 33
  • 50.39 (n)
zebrafish
(Danio rerio)
Actinopterygii rhbdd2 34
  • 23 (a)
OneToOne
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

ENSEMBL:
Gene Tree for RHBDD2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs11547498 Uncertain significance 75,881,904(+) CTGGC(A/G)CTTTG intron-variant, reference, missense, utr-variant-5-prime
rs1000275251 -- 75,878,761(+) TCTTC(A/C)CTGAT upstream-variant-2KB
rs1000557316 -- 75,877,482(+) GCCTG(G/T)GTGAC upstream-variant-2KB
rs1000604572 -- 75,877,158(+) GAGGG(A/G)AGGGA upstream-variant-2KB
rs1000872592 -- 75,888,481(+) CTGTT(G/T)CAGTC nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links for RHBDD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDD2

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
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RHBDD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente XS … López-Otín C (Nature reviews. Genetics 2003) 2 3 60
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60

Products for RHBDD2 Gene

Sources for RHBDD2 Gene

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