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Aliases for RHBDD2 Gene

Aliases for RHBDD2 Gene

  • Rhomboid Domain Containing 2 2 3
  • RHBDL7 3 4
  • Rhomboid, Veinlet-Like 7 (Drosophila) 2
  • Rhomboid Domain-Containing Protein 2 3
  • 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 Symbols for RHBDD2 Gene

  • RHBDL7

Summaries for RHBDD2 Gene

GeneCards Summary for RHBDD2 Gene

RHBDD2 (Rhomboid Domain Containing 2) is a Protein Coding gene. 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

Genomic Location for RHBDD2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDD2 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys51 and Lys230

Other Protein References for RHBDD2 Gene

No data available for DME Specific Peptides for RHBDD2 Gene

Domains for RHBDD2 Gene

Protein Domains for RHBDD2 Gene

UniProtKB/Swiss-Prot:

RHBD2_HUMAN
Family:
  • Belongs to the peptidase S54 family.:
    • Q6NTF9
genes like me logo Genes that share domains with RHBDD2: view

No data available for Gene Families for RHBDD2 Gene

Function 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

miRNA for RHBDD2 Gene

miRTarBase miRNAs that target RHBDD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 4
nucleus 4
plasma membrane 3

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 --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDD2: view

Pathways 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.ENSP00000381104%0d%0a9606.ENSP00000365567%0d%0a
Selected Interacting proteins: ENSP00000006777 Q6NTF9-RHBD2_HUMAN for RHBDD2 Gene via STRING I2D

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 for RHBDD2 Gene

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

Integrated Proteomics: protein expression 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 expressions with RHBDD2: view

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 36
  • 99.54 (n)
  • 100 (a)
RHBDD2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDD2 36
  • 86.87 (n)
  • 85.67 (a)
RHBDD2 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDD2 36
  • 87.88 (n)
  • 89.53 (a)
RHBDD2 37
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdd2 36
  • 85.69 (n)
  • 88.09 (a)
Rhbdd2 16
Rhbdd2 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD2 37
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdd2 36
  • 84.58 (n)
  • 86.98 (a)
chicken
(Gallus gallus)
Aves RHBDD2 36
  • 62.96 (n)
  • 56.25 (a)
lizard
(Anolis carolinensis)
Reptilia RHBDD2 37
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd2 36
  • 50.39 (n)
  • 41.8 (a)
zebrafish
(Danio rerio)
Actinopterygii rhbdd2 37
  • 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

Selected 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 MAF
rs7223 -- 75,888,702(-) GAGCA(C/G/T)GGCAC utr-variant-3-prime
rs42183 -- 75,883,744(-) TTCAG(C/T)GCCAC reference, synonymous-codon
rs42184 -- 75,880,134(-) AAAAT(A/C)TAGAT intron-variant
rs872792 -- 75,888,589(-) TTACT(A/G)AAGAG utr-variant-3-prime
rs1044012 -- 75,888,839(+) CAGAA(A/G)CGGTG utr-variant-3-prime

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

Relevant External Links for RHBDD2 Gene

HapMap Linkage Disequilibrium report
RHBDD2

Disorders for RHBDD2 Gene

No disorders were found for RHBDD2 Gene.

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

Publications for RHBDD2 Gene

  1. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 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. 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

Products for RHBDD2 Gene

Sources for RHBDD2 Gene

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