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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, Veinlet-Like 7 3
  • WUGSC:H_RG122E10.2a 3
  • WUGSC:H_RG122E10.2b 3
  • H_RG122E10.2a 3
  • H_RG122E10.2b 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

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.

No data available for Entrez Gene 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 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 RHBDD2 on UCSC Golden Path with GeneCards custom track

Promoters for RHBDD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for RHBDD2 Gene at MOPED

Post-translational modifications for RHBDD2 Gene

  • Ubiquitination at Lys 51 and Lys 230
  • Modification sites at PhosphoSitePlus

Other Protein References for RHBDD2 Gene

Antibody Products

No data available for DME Specific Peptides for RHBDD2 Gene

Domains & Families for RHBDD2 Gene

Gene Families for RHBDD2 Gene

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

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

Animal Model Products

miRNA for RHBDD2 Gene

miRTarBase miRNAs that target RHBDD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RHBDD2 Gene COMPARTMENTS Subcellular localization image for RHBDD2 gene
Compartment Confidence
golgi apparatus 3
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RHBDD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with RHBDD2: view

Pathways & Interactions for RHBDD2 Gene

SuperPathways for RHBDD2 Gene

No Data Available

Interacting Proteins for RHBDD2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000006777%0d%0a9606.ENSP00000371294%0d%0a9606.ENSP00000259392%0d%0a9606.ENSP00000363329%0d%0a9606.ENSP00000365567%0d%0a9606.ENSP00000381104%0d%0a
Selected Interacting proteins: Q6NTF9-RHBD2_HUMAN ENSP00000006777 for RHBDD2 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for RHBDD2 Gene

None

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:

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 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, MOPED, and MaxQB for RHBDD2 Gene



SOURCE GeneReport for Unigene cluster for RHBDD2 Gene Hs.488827

genes like me logo Genes that share expression patterns with RHBDD2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia RHBDD2 35
  • 86.87 (n)
  • 85.67 (a)
RHBDD2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDD2 35
  • 87.88 (n)
  • 89.53 (a)
RHBDD2 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdd2 35
  • 85.69 (n)
  • 88.09 (a)
Rhbdd2 16
Rhbdd2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RHBDD2 35
  • 99.54 (n)
  • 100 (a)
RHBDD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdd2 35
  • 84.58 (n)
  • 86.98 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD2 36
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHBDD2 35
  • 62.96 (n)
  • 56.25 (a)
lizard
(Anolis carolinensis)
Reptilia RHBDD2 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd2 35
  • 50.39 (n)
  • 41.8 (a)
zebrafish
(Danio rerio)
Actinopterygii rhbdd2 36
  • 23 (a)
OneToOne
Species with no ortholog for RHBDD2:
  • 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 - 75,881,904(+) CTGGC(A/G)CTTTG reference, missense, utr-variant-5-prime
rs872792 -- 75,888,589(-) TTACT(A/G)AAGAG utr-variant-3-prime
rs1044012 -- 75,888,839(+) CAGAA(A/G)CGGTG utr-variant-3-prime
rs6954082 -- 75,879,382(+) CTCGG(A/T)CCTCA intron-variant
rs6960515 -- 75,887,678(+) GGCAG(C/T)TGTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv528969 CNV Gain 19592680
essv14753 CNV CNV 17122850
dgv120n16 CNV Deletion 17901297

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

HapMap Linkage Disequilibrium report
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 N.B. … Farber D.B. (J. Biol. Chem. 2013) 3 4 67
  2. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  4. Rhomboid family gene expression profiling in breast normal tissue and tumor samples. (PMID: 24185965) Canzoneri R. … Abba M.C. (Tumour Biol. 2014) 3
  5. Identification of signaling pathways modulated by RHBDD2 in breast cancer cells: a link to the unfolded protein response. (PMID: 24078384) Lacunza E. … Abba M.C. (Cell Stress Chaperones 2014) 3

Products for RHBDD2 Gene

Sources for RHBDD2 Gene

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