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Aliases for RHBDD3 Gene

Aliases for RHBDD3 Gene

  • Rhomboid Domain Containing 3 2 3 5
  • C22orf3 3 4
  • Rhomboid Domain-Containing Protein 3 3
  • Chromosome 22 Open Reading Frame 3 2
  • Hypothetical Protein HS984G1A 3
  • Pituitary Tumor Apoptosis 3
  • HS984G1A 3
  • PTAG 3

External Ids for RHBDD3 Gene

Previous HGNC Symbols for RHBDD3 Gene

  • C22orf3

Previous GeneCards Identifiers for RHBDD3 Gene

  • GC22M027985
  • GC22M029655
  • GC22M012620

Summaries for RHBDD3 Gene

GeneCards Summary for RHBDD3 Gene

RHBDD3 (Rhomboid Domain Containing 3) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDD3 Gene

Genomics for RHBDD3 Gene

Regulatory Elements for RHBDD3 Gene

Enhancers for RHBDD3 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
GH22G029223 1.4 Ensembl ENCODE dbSUPER 11.9 +43.1 43101 2.9 PKNOX1 KLF17 INSM2 SIN3A FEZF1 ZEB1 ZNF121 GATA2 ZNF366 SCRT2 ENSG00000237015 RHBDD3 EWSR1 C22orf31 EMID1 LOC105372985
GH22G029231 1.2 ENCODE dbSUPER 12.4 +35.8 35767 2.1 ELF3 PKNOX1 AGO1 ZSCAN4 ARID4B FEZF1 ZNF48 RAD21 RARA YY1 EMID1 ENSG00000237015 RHBDD3 EWSR1 ENSG00000226772 C22orf31 NIPSNAP1 LOC105372985
GH22G029233 0.9 ENCODE dbSUPER 12.4 +34.7 34675 0.0 ZNF335 PRDM6 L3MBTL2 ZNF366 SCRT2 OVOL3 FEZF1 ZBTB17 ENSG00000237015 RHBDD3 EWSR1 ENSG00000226772 C22orf31 LOC105372985
GH22G029265 1.6 Ensembl ENCODE dbSUPER 5.9 -0.4 -361 6.6 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 GAS2L1 RASL10A RHBDD3
GH22G029381 1.6 Ensembl ENCODE dbSUPER 5.5 -117.2 -117196 8.1 HDGF PKNOX1 CREB3L1 ARNT ZFP64 SIN3A ARID4B DMAP1 ZNF2 YY1 RASL10A AP1B1 SNORD125 GAS2L1 RHBDD3 LOC102723305 MIR3653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHBDD3 on UCSC Golden Path with GeneCards custom track

Promoters for RHBDD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145038 -491 3001 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Transcription factor binding sites by QIAGEN in the RHBDD3 gene promoter:

Genomic Location for RHBDD3 Gene

Chromosome:
22
Start:
29,259,852 bp from pter
End:
29,268,209 bp from pter
Size:
8,358 bases
Orientation:
Minus strand

Genomic View for RHBDD3 Gene

Genes around RHBDD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHBDD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHBDD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDD3 Gene

Proteins for RHBDD3 Gene

  • Protein details for RHBDD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3P4-RHBD3_HUMAN
    Recommended name:
    Rhomboid domain-containing protein 3
    Protein Accession:
    Q9Y3P4
    Secondary Accessions:
    • Q6I9X3
    • Q9UGQ7

    Protein attributes for RHBDD3 Gene

    Size:
    386 amino acids
    Molecular mass:
    40484 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RHBDD3 Gene

Post-translational modifications for RHBDD3 Gene

  • Ubiquitination at isoforms=374
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RHBDD3 Gene

Domains & Families for RHBDD3 Gene

Gene Families for RHBDD3 Gene

Protein Domains for RHBDD3 Gene

Suggested Antigen Peptide Sequences for RHBDD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RHBDD3: view

No data available for UniProtKB/Swiss-Prot for RHBDD3 Gene

Function for RHBDD3 Gene

Gene Ontology (GO) - Molecular Function for RHBDD3 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 RHBDD3: view
genes like me logo Genes that share phenotypes with RHBDD3: view

Animal Models for RHBDD3 Gene

MGI Knock Outs for RHBDD3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RHBDD3 Gene

Localization for RHBDD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDD3 Gene

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 RHBDD3 gene
Compartment Confidence
cytoskeleton 3
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RHBDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDD3: view

Pathways & Interactions for RHBDD3 Gene

SuperPathways for RHBDD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0001889 liver development IEA --
GO:0002673 regulation of acute inflammatory response IEA --
GO:0006508 proteolysis IEA --
GO:0009410 response to xenobiotic stimulus IEA --
genes like me logo Genes that share ontologies with RHBDD3: view

No data available for Pathways by source and SIGNOR curated interactions for RHBDD3 Gene

Drugs & Compounds for RHBDD3 Gene

No Compound Related Data Available

Transcripts for RHBDD3 Gene

Unigene Clusters for RHBDD3 Gene

Rhomboid domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - -
SP5: - - -
SP6: - -
SP7:
SP8: -

Relevant External Links for RHBDD3 Gene

GeneLoc Exon Structure for
RHBDD3
ECgene alternative splicing isoforms for
RHBDD3

Expression for RHBDD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHBDD3 Gene

Protein differential expression in normal tissues from HIPED for RHBDD3 Gene

This gene is overexpressed in Placenta (26.8), Testis (18.3), Adipocyte (14.7), and Brain (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RHBDD3 Gene



Protein tissue co-expression partners for RHBDD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RHBDD3 Gene:

RHBDD3

SOURCE GeneReport for Unigene cluster for RHBDD3 Gene:

Hs.106730

Evidence on tissue expression from TISSUES for RHBDD3 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with RHBDD3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDD3 Gene

Orthologs for RHBDD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RHBDD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHBDD3 34 35
  • 96.49 (n)
dog
(Canis familiaris)
Mammalia RHBDD3 34 35
  • 84.97 (n)
cow
(Bos Taurus)
Mammalia RHBDD3 34 35
  • 83.48 (n)
mouse
(Mus musculus)
Mammalia Rhbdd3 34 16 35
  • 79.46 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdd3 34
  • 79.46 (n)
oppossum
(Monodelphis domestica)
Mammalia RHBDD3 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD3 35
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHBDD3 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd3 34
  • 46.47 (n)
zebrafish
(Danio rerio)
Actinopterygii rhbdd3 35
  • 32 (a)
OneToOne
Species where no ortholog for RHBDD3 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)
  • 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)
  • 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 RHBDD3 Gene

ENSEMBL:
Gene Tree for RHBDD3 (if available)
TreeFam:
Gene Tree for RHBDD3 (if available)

Paralogs for RHBDD3 Gene

(7) SIMAP similar genes for RHBDD3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RHBDD3: view

No data available for Paralogs for RHBDD3 Gene

Variants for RHBDD3 Gene

Sequence variations from dbSNP and Humsavar for RHBDD3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000112688 -- 29,262,822(+) CTGTC(C/T)CAGTC intron-variant
rs1000187053 -- 29,266,814(+) CCACA(G/T)CTACC intron-variant, upstream-variant-2KB
rs1000218198 -- 29,267,045(+) CCCAC(A/G)TTCCC intron-variant, upstream-variant-2KB
rs1000233730 -- 29,268,585(+) GGGGG(C/G)GCGCG intron-variant, upstream-variant-2KB
rs1000680622 -- 29,260,059(+) CCTGG(G/T)CTAGG intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RHBDD3 Gene

Variant ID Type Subtype PubMed ID
nsv829154 CNV gain 20364138
nsv834171 CNV loss 17160897

Variation tolerance for RHBDD3 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHBDD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDD3 Gene

Disorders for RHBDD3 Gene

Relevant External Links for RHBDD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHBDD3

No disorders were found for RHBDD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHBDD3 Gene

Publications for RHBDD3 Gene

  1. Isolation and characterization of a novel pituitary tumor apoptosis gene. (PMID: 15105437) Bahar A. … Farrell W.E. (Mol. Endocrinol. 2004) 2 3 22 64
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  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 64
  5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins J.E. … Dunham I. (Genome Res. 2003) 3 4 64

Products for RHBDD3 Gene

Sources for RHBDD3 Gene

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