Aliases for RHBDD3 Gene

Aliases for RHBDD3 Gene

  • Rhomboid Domain Containing 3 2 3 5
  • Rhomboid Domain-Containing Protein 3 3 4
  • C22orf3 3 4
  • PTAG 2 3
  • Chromosome 22 Open Reading Frame 3 2
  • Hypothetical Protein HS984G1A 3
  • Pituitary Tumor Apoptosis 3
  • HS984G1A 3
  • RHBDD3 5

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. Diseases associated with RHBDD3 include Brachial Plexus Lesion and Patellar Tendinitis. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is RHBDD2.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHBDD3 Gene

Genomics for RHBDD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RHBDD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RHBDD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHBDD3

Top Transcription factor binding sites by QIAGEN in the RHBDD3 gene promoter:
  • AML1a

Genomic Locations for RHBDD3 Gene

Latest Assembly
8,362 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
8,312 bases
Minus strand

(GRCh37/hg19 by Ensembl)
8,358 bases
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:
    Recommended name:
    Rhomboid domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • Q6I9X3
    • Q9UGQ7

    Protein attributes for RHBDD3 Gene

    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 Lys374
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RHBDD3 Gene

Domains & Families for RHBDD3 Gene

Gene Families for RHBDD3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for RHBDD3 Gene

  • Ubiquitin-associated domain
  • Rhomboid-like protein

Suggested Antigen Peptide Sequences for RHBDD3 Gene

GenScript: Design optimal peptide antigens:
  • Rhomboid domain-containing protein 3 (RHBD3_HUMAN)
genes like me logo Genes that share domains with RHBDD3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RHBDD3 Gene

Function for RHBDD3 Gene

Phenotypes From GWAS Catalog 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,IBA 21873635
GO:0005515 protein binding 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDD3

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

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 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RHBDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

PathCards logo

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

mRNA/cDNA for RHBDD3 Gene

7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDD3

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: - -
SP8: -

Relevant External Links for RHBDD3 Gene

GeneLoc Exon Structure for

Expression for RHBDD3 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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, MaxQB, and MOPED for RHBDD3 Gene

Protein tissue co-expression partners for RHBDD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHBDD3

SOURCE GeneReport for Unigene cluster for RHBDD3 Gene:


Evidence on tissue expression from TISSUES for RHBDD3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with RHBDD3: view

Primer products for research

No data available for 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
(Pan troglodytes)
Mammalia RHBDD3 30 31
  • 96.49 (n)
(Canis familiaris)
Mammalia RHBDD3 30 31
  • 84.97 (n)
(Bos Taurus)
Mammalia RHBDD3 30 31
  • 83.48 (n)
(Rattus norvegicus)
Mammalia Rhbdd3 30
  • 79.46 (n)
(Mus musculus)
Mammalia Rhbdd3 30 17 31
  • 79.46 (n)
(Monodelphis domestica)
Mammalia RHBDD3 31
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia RHBDD3 31
  • 54 (a)
(Anolis carolinensis)
Reptilia RHBDD3 31
  • 42 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhbdd3 30
  • 46.47 (n)
(Danio rerio)
Actinopterygii rhbdd3 31
  • 32 (a)
Species where no ortholog for RHBDD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for RHBDD3 (if available)
Gene Tree for RHBDD3 (if available)
Evolutionary constrained regions (ECRs) for RHBDD3: view image

Paralogs for RHBDD3 Gene

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

Variants for RHBDD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHBDD3 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1446100794 Uncertain Significance: not provided 29,264,129(-) G/A
NM_012265.3(RHBDD3):c.238C>T (p.Gln80Ter)
rs2231397 - p.His227Arg
rs2272902 - p.Thr86Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RHBDD3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for RHBDD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

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

Disorders for RHBDD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RHBDD3 Gene - From: COP

Disorder Aliases PubMed IDs
brachial plexus lesion
  • brachial plexus lesions
patellar tendinitis
  • patellar tendonitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RHBDD3

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

No data available for 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 WE (Molecular endocrinology (Baltimore, Md.) 2004) 2 3 23
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  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
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins JE … Dunham I (Genome research 2003) 3 4

Products for RHBDD3 Gene

Sources for RHBDD3 Gene