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

RC3H2 Gene

protein-coding   GIFtS: 46
GCID: GC09M125606

ring finger and CCCH-type domains 2

(Previous names: membrane associated DNA binding protein, ring finger and...)
(Previous symbol: MNAB)
  Search for RC3H2
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Biological research products
for RC3H2    

Aliases
for RC3H2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ring Finger And CCCH-Type Domains 21 2     RING Finger Protein 1642 3
MNAB1 2 3     FLJ203011
RNF1641 2 3     FLJ207131
Membrane Associated DNA Binding Protein1 2     Membrane-Associated Nucleic Acid Binding Protein2
Ring Finger And CCCH-Type Zinc Finger Domains 21 2     RING Finger And CCCH-Type Zinc Finger Domain-Containing Protein 22
Membrane-Associated Nucleic Acid-Binding Protein2 3     

External Ids:    HGNC: 214611   Entrez Gene: 545422   Ensembl: ENSG000000565867   UniProtKB: Q9HBD13   

Export aliases for RC3H2 gene to outside databases

Previous GC identifers: GC09M124647 GC09M095226


Summaries
for RC3H2 gene

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

Genomic Views
for RC3H2 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RC3H2 gene promoter:
         CUTL1   NF-AT   NF-AT4   FAC1   NF-AT2   Ik-2   POU2F1a   POU2F1b   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RC3H2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RC3H2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RC3H2


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q34

RC3H2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RC3H2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M125606:  view genomic region     (about GC identifiers)

Start:
 125,606,835 bp from pter      End:
 125,667,562 bp from pter
Size:
 60,728 bases      Orientation:
 minus strand

Proteins
for RC3H2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RC3H2_HUMAN, Q9HBD1 (See protein sequence)
Recommended Name: RING finger and CCCH-type zinc finger domain-containing protein 2  
Size: 1191 amino acids; 131669 Da
Subunit: Binds DNA
Subcellular location: Cytoplasm, perinuclear region. Endomembrane system. Note=Membrane-associated. Primarily localizes
to the perinuclear space, probably to the endoplasmic reticulum or trans-Golgi network
Sequence caution: Sequence=BAA91340.1; Type=Erroneous initiation; Sequence=BAB15634.1; Type=Erroneous initiation;
Secondary accessions: Q4VXB1 Q5JPD7 Q86ST6 Q8N3D6 Q96F27 Q9H5J2 Q9HBD2 Q9NWN9 Q9NXE1
Alternative splicing: 6 isoforms:  Q9HBD1-1   Q9HBD1-2   Q9HBD1-3   Q9HBD1-4   Q9HBD1-5   Q9HBD1-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RC3H2: NX_Q9HBD1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HBD1

    • RC3H2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001094058.1  NP_061323.2  

    ENSEMBL proteins: 
     ENSP00000362774   ENSP00000398081   ENSP00000362767   ENSP00000381663   ENSP00000335150  
     ENSP00000349783   ENSP00000411767   ENSP00000362769  

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    Uscn Proteins for RC3H2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0009986cell surface IDA10938276
    GO:0012505endomembrane system IEA--
    GO:0016020membrane IDA10938276
    GO:0048471perinuclear region of cytoplasm IEA--


    RC3H2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for RC3H2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RC3H2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000571 Znf_CCCH
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS

    Graphical View of Domain Structure for InterPro Entry Q9HBD1

    ProtoNet protein and cluster: Q9HBD1

    1 Blocks protein family: IPB000571 Zn-finger

    UniProtKB/Swiss-Prot: RC3H2_HUMAN, Q9HBD1
    Similarity: Contains 1 C3H1-type zinc finger
    Similarity: Contains 1 RING-type zinc finger


    Function
    for RC3H2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA10938276
    GO:0008270zinc ion binding IEA--


    RC3H2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for RC3H2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RC3H2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for RC3H2 (Q9HBD12, 3 ENSP000003497834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TIA1P314832, 3, ENSP000004013714MINT-7711447 MINT-7711460 I2D: score=1 STRING: ENSP00000401371
    UBE2IP632793, ENSP000003248974I2D: score=2 STRING: ENSP00000324897
    UBE2NP610883, ENSP000003161764I2D: score=2 STRING: ENSP00000316176
    TRIM8ENSP000003021204STRING: ENSP00000302120
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    RC3H2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RC3H2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 RC3H2
    Search CenterWatch for drugs/clinical trials and news about RC3H2 

    Transcripts
    for RC3H2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RC3H2 gene (2 alternative transcripts): 
    NM_001100588.1  NM_018835.2  

    Unigene Cluster for RC3H2:

    Ring finger and CCCH-type domains 2
    Hs.533499  [show with all ESTs]
    Unigene Representative Sequence: NM_001100588
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373670(uc004bnd.1) ENST00000498479 ENST00000454740 ENST00000495727
    ENST00000373663 ENST00000398671 ENST00000475161 ENST00000335387(uc011lzf.2 uc011lzg.2)
    ENST00000478216 ENST00000471874 ENST00000357244(uc010mwc.1 uc004bnc.2)
    ENST00000423239(uc004bne.4) ENST00000373665(uc004bng.1)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF255303.1 AF255304.1 AK000308.1 AK000720.1 AK027042.1 AK226010.1 AL834431.1 BC011688.2 
    BC044642.1 

    9 DOTS entries:

    DT.100024735  DT.213928  DT.100785934  DT.454186  DT.91845206  DT.97821646  DT.121173049  DT.99947512 
    DT.455260 

    24/276 AceView cDNA sequences (see all 276):

    BU192360 AA235353 BC011688 AV694052 BU618436 BX105682 AW452129 CB119541 
    CD672260 BX956709 AA491069 AI635037 BI754437 BE888668 CB121629 AK123569 
    BF433077 AF255303 AA694017 BQ925306 BU623589 AA449173 AI684847 AA836013 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RC3H2    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
    SP1:                                      -                                                                                                                     
    SP2:                                                                                                                                                            
    SP3:        -                             -                                                                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                  -         

    ExUns: 21b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for RC3H2

    Expression
    for RC3H2 gene

    (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

    RC3H2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAGCATTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RC3H2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RC3H2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RC3H2

    SOURCE GeneReport for Unigene cluster: Hs.533499

    UniProtKB/Swiss-Prot: RC3H2_HUMAN, Q9HBD1
    Tissue specificity: Expressed in spleen, testis, ovary and small intestine

        SABiosciences Expression via Pathway-Focused PCR Array including RC3H2: 
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    In Situ
    Assay Products:     
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    Orthologs
    for RC3H2 gene

    (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 animals.

    Orthologs for RC3H2 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rc3h21 , 5 ring finger and CCCH-type zinc finger domains 21, 5 93.01(n)1
    95.62(a)1    		   2 (24.19 cM)5
    3198171  NM_001100591.11  NP_001094061.11 
     373700695 
    chicken
    (Gallus gallus)    		 Aves RC3H21 ring finger and CCCH-type domains 2 84.47(n)
    90.92(a)    		   417109  XM_415394.3  XP_415394.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii rc3h21 ring finger and CCCH-type domains 2 63.18(n)
    66.85(a)    		   559834  XM_683221.3  XP_688313.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta roq6
    		 roquin
    		 42(a)
    		 1 → many
    		 3L(16364038-16371750)
    worm
    (Caenorhabditis elegans)    		 Secernentea rle-16
    		 --
    		 25(a)
    		 1 → many
    		 III(10936147-10946400)


    ENSEMBL Gene Tree for RC3H2 (if available)
    TreeFam Gene Tree for RC3H2 (if available) 

    Paralogs
    for RC3H2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RC3H2 gene
    RC3H12  
    1 SIMAP similar gene for RC3H2 using alignment to 5 protein entries:     RC3H2_HUMAN (see all proteins):
    RC3H1

    RC3H2 for paralogs           About GeneDecksing



    Genomic Variants
    for RC3H2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/892 NCBI SNPs in RC3H2 are shown (see all 892)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs120010021,2
    		C,F,H,--125611369(+) GAACAT/CCTAAC 1 -- ds500112Minor allele frequency- C:0.03NS EA NA CSA WA 1210
    rs1830419581,2
    		--125611614(+) GCACCA/GGATTG 1 -- ds50010--------
    rs783250501,2
    		C--125611641(+) AGCTGA/CTTGAA 1 -- ds50010--------
    rs1863554631,2
    		--125611808(+) TTTTTA/TAAAAA 1 -- ut310--------
    rs2014638261,2
    		--125612128(+) TAAAA-/ACAAATT 1 -- int10--------
    rs30491561,2
    		C,--125612130(+) AAAAC-/AAATTAG 1 -- int10--------
    rs59005471,2
    		C--125612130(+) AAAAC-/AAATTAG 1 -- int10--------
    rs1916630871,2
    		--125612292(+) CCTCCA/GTCGCC 1 -- int10--------
    rs1835736561,2
    		--125612295(+) CCGTCA/GCCCAG 1 -- int10--------
    rs1880205931,2
    		--125612578(+) AAAGTA/TATGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RC3H2 (125606835 - 125667562 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RC3H2: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for RC3H2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		   --

    Publications
    for RC3H2 gene

    (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 RC3H2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with RC3H2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A human gene coding for a membrane-associated nucleic acid-binding protein. (PubMed id 10938276)1, 2, 3, 9 Siess D.C....Hefeneider S.H. (2000)
    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. Systematic analysis of dimeric E3-RING interactions re veals increased combinatorial complexity in human ubiquitination networks. (PubMed id 22493164)1 Woodsmith J....Sanderson C.M. (2012)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    6. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. (PubMed id 19549727)1 Markson G....Sanderson C.M. (2009)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)

    External Searches for RC3H2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing RC3H2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54542 HGNC: 21461 AceView: MNAB Ensembl:ENSG00000056586 euGenes: HUgn54542
    ECgene: RC3H2 H-InvDB: RC3H2

    Other Databases showing RC3H2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RC3H2 gene

    (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 RC3H2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for RC3H2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RC3H2 gene:
    Search GeneIP for patents involving RC3H2

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