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

RHBDD2 Gene

protein-coding   GIFtS: 47
GCID: GC07P075471

Rhomboid Domain Containing 2

(Previous names: rhomboid, veinlet-like 7 (Drosophila))
(Previous symbol: RHBDL7)
  See related diseases
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 21 2     NPD0072
RHBDL71 2 3     WUGSC:H_RG122E10.2a2
Rhomboid, Veinlet-Like 7 (Drosophila)1     WUGSC:H_RG122E10.2b2
H_RG122E10.2a2     Rhomboid Domain-Containing Protein 22
H_RG122E10.2b2     Rhomboid, Veinlet-Like 72

External Ids:    HGNC: 230821   Entrez Gene: 574142   Ensembl: ENSG000000054867   OMIM: 6152035   UniProtKB: Q6NTF93   

Export aliases for RHBDD2 gene to outside databases

Previous GC identifers: GC07P075346 GC07P070594


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

GeneCards Summary for RHBDD2 Gene: 
RHBDD2 (rhomboid domain containing 2) is a protein-coding gene. Diseases associated with RHBDD2 include colorectal cancer, and breast cancer. 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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHBDD2 gene promoter:
         GATA-3   Sp1   SREBP-1c   MIF-1   LCR-F1   SREBP-1b   C/EBPalpha   GATA-1   GATA-2   SREBP-1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RHBDD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDD2


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11

RHBDD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDD2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075471:  view genomic region     (about GC identifiers)

Start:
75,471,920 bp from pter      End:
75,518,244 bp from pter
Size:
46,325 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 74,841,381-74,851,308     

(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: RHBD2_HUMAN, Q6NTF9 (See protein sequence)
Recommended Name: Rhomboid domain-containing protein 2  
Size: 364 amino acids; 39202 Da
Subcellular location: Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein (By similarity)
Caution: Although strongly related to the peptidase S54 family, it lacks the conserved active sites, suggesting
that it has no peptidase activity
Sequence caution: Sequence=BAB15503.1; Type=Erroneous initiation;
Secondary accessions: Q7L534 Q9H5W6 Q9UDT2

Explore the universe of human proteins at neXtProt for RHBDD2: NX_Q6NTF9

Explore proteomics data for RHBDD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NTF9

  • RHBDD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHBDD2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035546.1  NP_001035547.1  

    ENSEMBL proteins: 
     ENSP00000006777   ENSP00000403507   ENSP00000391232   ENSP00000314144  

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    Cloud-Clone Corp. Proteins for RHBDD2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0016021integral to membrane IEA--

    RHBDD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR022764 Peptidase_S54_rhomboid_dom

    Graphical View of Domain Structure for InterPro Entry Q6NTF9

    ProtoNet protein and cluster: Q6NTF9

    1 Blocks protein domain: IPB002610 Rhomboid-like protein

    UniProtKB/Swiss-Prot: RHBD2_HUMAN, Q6NTF9
    Similarity: Belongs to the peptidase S54 family


    RHBDD2 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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
         
    RHBDD2 for ontologies           About GeneDecksing


    Animal Models:
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    (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 RHBDD2

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

    4 Interacting proteins for RHBDD2 (Q6NTF93 ENSP000000067774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573I2D: score=1 
    CAMKK2Q96RR43I2D: score=1 
    CLN3Q132863I2D: score=1 
    UBCENSP000003448184STRING: 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 RHBDD2 (RHBD2)

    Search CenterWatch for drugs/clinical trials and news about RHBDD2 / RHBD2

    (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 RHBDD2 gene (3 alternative transcripts): 
    NM_020684.2  NM_001040456.1  NM_001040457.1  

    Unigene Cluster for RHBDD2:

    Rhomboid domain containing 2
    Hs.488827  [show with all ESTs]
    Unigene Representative Sequence: NM_001040457
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466232 ENST00000468644 ENST00000006777 ENST00000454791 ENST00000476218
    ENST00000468304 ENST00000428119 ENST00000467406 ENST00000318622(uc003udv.1 uc003udw.1)

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate RHBDD2:
    hsa-miR-221* hsa-miR-520d-5p hsa-miR-544 hsa-miR-524-5p hsa-let-7f-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AF226732.1 AK026590.1 BC006234.2 BC069017.1 

    18 DOTS entries:

    DT.100712002  DT.448851  DT.100037815  DT.121078101  DT.91760918  DT.100821667  DT.101984259  DT.40107293 
    DT.121078092  DT.95276407  DT.100037814  DT.100821668  DT.121078077  DT.97810745  DT.97848535  DT.100821675 
    DT.100821677  DT.91728492 

    24/534 AceView cDNA sequences (see all 534):

    CA487750 CA310736 BM970689 BI820224 AL519514 Z45125 AI262602 CA312810 
    AI580747 CR604000 BX463711 BE855479 BU739830 BU955799 CF454938 CR603596 
    BE394425 BM688453 BG825386 BQ431362 CR600296 BG110984 CR591432 BM805478 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD2 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b
    SP1:                                                                                          
    SP2:                                      -                                                   
    SP3:                                            -     -     -     -     -                     
    SP4:        -     -     -     -     -                                                         
    SP5:                                                                                          


    ECgene alternative splicing isoforms for RHBDD2

    (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

    RHBDD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCTGCCT
    RHBDD2 Expression
    About this image


    See RHBDD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHBDD2

    SOURCE GeneReport for Unigene cluster: Hs.488827
        SABiosciences Custom PCR Arrays for RHBDD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD2

    (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 RHBDD2 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhbdd21 , 5 rhomboid domain containing 21, 5 85.69(n)1
    88.09(a)1
      5 (75.31 cM)5
    2151601  NM_146002.21  NP_666114.11 
     1356326185 
    chicken
    (Gallus gallus)
    Aves RHBDD21 rhomboid domain containing 2 65.51(n)
    60.61(a)
      417521  XM_415769.3  XP_415769.3 
    lizard
    (Anolis carolinensis)
    Reptilia RHBDD26
    Uncharacterized protein
    42(a)
    1 ↔ 1
    GL343734.1(209757-214661)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000049221 uncharacterized protein At3g58460-like 43.2(n)
    29.31(a)
      100004922  XM_001344064.3  XP_001344100.3 


    ENSEMBL Gene Tree for RHBDD2 (if available)
    TreeFam Gene Tree for RHBDD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHBDD2 gene
    2 SIMAP similar genes for RHBDD2 using alignment to 1 protein entry:     RHBD2_HUMAN:
    RHBDL7    WUGSC

    RHBDD2 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

    10/306 SNPs in RHBDD2 are shown (see all 306)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379692631,2
    --75506350(+) CAGGAA/GCTTCT 2 -- us2k10--------
    rs1856659241,2
    --75506486(+) AGTACC/TGGGCA 2 -- us2k10--------
    rs1490905551,2
    --75506627(+) GCCTGA/GCCAAT 2 -- us2k10--------
    rs1893135421,2
    --75506857(+) CTGTTA/CTCCAG 2 -- us2k10--------
    rs1816847191,2
    --75506884(+) ACTGTA/GAAGTG 2 -- us2k10--------
    rs102330771,2
    C,F,A--75507122(+) ACAGGC/AACGCG 2 -- us2k16Minor allele frequency- A:0.50NA WA CSA 10
    rs1388065401,2
    C--75507146(+) TTAATG/TTTTGT 2 -- us2k10--------
    rs1857184801,2
    C--75507153(+) TTGTAC/GTTTTA 2 -- us2k10--------
    rs793133861,2
    C--75507278(+) GCCTCC/TTGCCC 2 -- us2k12Minor allele frequency- T:0.19NA 122
    rs1885653551,2
    --75507438(+) TAGGGA/TTGAAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RHBDD2 (75471920 - 75518244 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RHBDD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    nsv528969CNV Gain19592680
    essv14753CNV CNV17122850

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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
    OMIM gene information: 615203    OMIM disorders: --

    2 diseases for RHBDD2:    About MalaCards
    colorectal cancer    breast cancer


    RHBDD2 for disorders           About GeneDecksing


    Export disorders for RHBDD2 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 RHBDD2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with RHBDD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa. (PubMed id 23386608)1, 2 Ahmedli N.B....Farber D.B. (2013)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. RHBDD2: a 5-fluorouracil responsive gene overexpressed in the advanced stages of colorectal cancer. (PubMed id 22965880)1 Lacunza E....Abba M.C. (2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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

      Query String
    PubMed
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57414 HGNC: 23082 AceView: RHBDL7 Ensembl:ENSG00000005486 euGenes: HUgn57414
    ECgene: RHBDD2 H-InvDB: RHBDD2

    (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 RHBDD2 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 RHBDD2 gene:
    Search GeneIP for patents involving RHBDD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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