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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RHBDD3 Gene

protein-coding   GIFtS: 49
GCID: GC22M029655

Rhomboid Domain Containing 3

(Previous name: chromosome 22 open reading frame 3)
(Previous symbol: C22orf3)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rhomboid Domain Containing 31 2     PTAG2
C22orf31 2 3     Pituitary Tumor Apoptosis2
Chromosome 22 Open Reading Frame 31     Rhomboid Domain-Containing Protein 32
HS984G1A2     

External Ids:    HGNC: 13081   Entrez Gene: 258072   Ensembl: ENSG000001002637   UniProtKB: Q9Y3P43   

Export aliases for RHBDD3 gene to outside databases

Previous GC identifers: GC22M027985 GC22M012620


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RHBDD3 Gene: 
RHBDD3 (rhomboid domain containing 3) is a protein-coding gene. Diseases associated with RHBDD3 include pituitary tumors. GO annotations related to this gene include serine-type endopeptidase activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHBDD3 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHBDD3 promoter sequence
   Search SABiosciences Chromatin IP Primers for RHBDD3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

RHBDD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDD3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M029655:  view genomic region     (about GC identifiers)

Start:
29,655,841 bp from pter      End:
29,664,198 bp from pter
Size:
8,358 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RHBD3_HUMAN, Q9Y3P4 (See protein sequence)
Recommended Name: Rhomboid domain-containing protein 3  
Size: 386 amino acids; 40484 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q6I9X3 Q9UGQ7

Explore the universe of human proteins at neXtProt for RHBDD3: NX_Q9Y3P4

Explore proteomics data for RHBDD3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y3P4

  • RHBDD3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHBDD3 Protein Expression
    REFSEQ proteins: NP_036397.1  
    ENSEMBL proteins: 
     ENSP00000216085   ENSP00000399550   ENSP00000413128   ENSP00000384113  

    Human Recombinant Protein Products for RHBDD3: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RHBDD3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    RHBDD3 for ontologies           About GeneDecksing



    RHBDD3 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for RHBDD3 
    Cloud-Clone Corp. CLIAs for RHBDD3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR022764 Peptidase_S54_rhomboid_dom
     IPR009060 UBA-like

    Graphical View of Domain Structure for InterPro Entry Q9Y3P4

    ProtoNet protein and cluster: Q9Y3P4

    2 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB002610 Rhomboid-like protein


    UniProtKB/Swiss-Prot: RHBD3_HUMAN, Q9Y3P4
    Similarity: Contains 1 UBA domain


    RHBDD3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding ----
         
    RHBDD3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RHBDD3:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RHBDD3 
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    miRNA
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RHBDD3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RHBDD3 (Q9Y3P43 ENSP000002160854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RHBDD3 (RHBD3)

    Search CenterWatch for drugs/clinical trials and news about RHBDD3 / RHBD3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RHBDD3 gene: 
    NM_012265.1  

    Unigene Cluster for RHBDD3:

    Rhomboid domain containing 3
    Hs.106730  [show with all ESTs]
    Unigene Representative Sequence: AL050346
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216085(uc003aeq.1) ENST00000413137 ENST00000496342 ENST00000414672
    ENST00000406335 ENST00000493894 ENST00000488106
    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RHBDD3
    SwitchGear 3'UTR luciferase reporter plasmidRHBDD3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RHBDD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHBDD3
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    GenScript: all cDNA clones in your preferred vector: RHBDD3 (NM_012265)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHBDD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDD3
    Sirion Biotech Customized lentivirus for stable overexpression of RHBDD3 
                         Customized lentivirus expression plasmids for stable overexpression of RHBDD3 
    Primer
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    OriGene qPCR primer pairs and template standards for RHBDD3
    OriGene qSTAR qPCR primer pairs in human, mouse for RHBDD3
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHBDD3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHBDD3

    Additional mRNA sequence: 

    AL050346.1 BC002705.2 BC018872.2 CR456411.1 CR457382.1 

    14 DOTS entries:

    DT.442630  DT.95355299  DT.100693816  DT.100813922  DT.100705718  DT.100776318  DT.120631417  DT.100700112 
    DT.40195915  DT.92068734  DT.95373894  DT.97845425  DT.406573  DT.100833847 

    24/184 AceView cDNA sequences (see all 184):

    BQ053724 BM971913 BM982659 CR606788 BM311832 BE677694 BQ893569 CF529639 
    F25808 CR594348 BE645104 CB049483 AL050346 BQ918247 BU753898 AI597885 
    AA423827 BU543922 BI791513 CK821673 AW087238 CB049484 BM682569 BM142072 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD3 (see all 8)    About this scheme

    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:                                      -           -     -                                                         


    ECgene alternative splicing isoforms for RHBDD3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RHBDD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCCCTAGT
    RHBDD3 Expression
    About this image


    See RHBDD3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHBDD3

    SOURCE GeneReport for Unigene cluster: Hs.106730
        SABiosciences Custom PCR Arrays for RHBDD3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RHBDD3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhbdd31 , 5 rhomboid domain containing 31, 5 79.46(n)1
    76.24(a)1
      11 (3.26 cM)5
    2797661  NM_177370.31  NP_796344.11 
     50989265 
    lizard
    (Anolis carolinensis)
    Reptilia RHBDD36
    Uncharacterized protein
    38(a)
    1 ↔ 1
    GL343417.1(114303-116663)
    zebrafish
    (Danio rerio)
    Actinopterygii rhbdd31 rhomboid domain containing 3 45.81(n)
    37.74(a)
      797317  NM_001128359.1  NP_001121831.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHBDD3 gene
    7 SIMAP similar genes for RHBDD3 using alignment to 4 protein entries:     RHBD3_HUMAN (see all proteins):
    ABCG5    NCF1    PAM16    MRPS28    HK1    NAA15
    ADCY7

    RHBDD3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/172 SNPs in RHBDD3 are shown (see all 172)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22313991,2
    C,H--29656145(-) GGTGCC/TGTGTC 2 A syn1 ese34Minor allele frequency- T:0.00NS EA 420
    rs2020887671,2
    --29656159(+) CACACA/GGCCTG 2 R C mis10--------
    rs1133625091,2
    C--29656165(+) GCCTGC/TGGCTG 2 T A mis11Minor allele frequency- T:0.00CSA 1
    rs2013174731,2
    --29656171(+) GGCTGC/TCAGTG 2 T A mis10--------
    rs2012297761,2
    C--29656179(+) GTGCCA/CCCACC 2 G V mis10--------
    rs2005415821,2
    --29656209(+) CCATGC/TGCTCC 2 H R mis10--------
    rs1996339361,2
    --29656238(+) GGGGTC/GGGGGG 1 -- int10--------
    rs1152863571,2
    C--29656240(+) GGTGGG/AGGGAG 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1866881761,2
    C--29656251(+) AAGTGG/TGGAGT 1 -- int11Minor allele frequency- T:0.01EU 171
    rs2015728071,2
    --29656253(+) GTGGGA/GAGTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RHBDD3 (29655841 - 29664198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RHBDD3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834171CNV Loss17160897
    nsv829154CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for RHBDD3:    About MalaCards
    pituitary tumors    


    RHBDD3 for disorders           About GeneDecksing


    Export disorders for RHBDD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RHBDD3 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with RHBDD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    2. Isolation and characterization of a novel pituitary tumor apoptosis gene. (PubMed id 15105437)1, 3, 9 Bahar A....Farrell W.E. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PubMed id 12529303)1, 2 Collins J.E.... Dunham I. (2003)
    6. Large-scale genotyping identifies 41 new loci associat ed with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (2013)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)1 Warnatz H.J....Yaspo M.L. (2011)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. Bidirectionality and transcriptional activity of the EWSR1 promoter region. (PubMed id 19212622)1 MAPller E....Panagopoulos I. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25807 HGNC: 1308 AceView: C22orf3 Ensembl:ENSG00000100263 euGenes: HUgn25807
    ECgene: RHBDD3 H-InvDB: RHBDD3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RHBDD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RHBDD3 gene:
    Search GeneIP for patents involving RHBDD3

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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     Proteins for RHBDD3
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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