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CMC4 Gene

protein-coding   GIFtS: 35
GCID: GC0XM154291

C-X(9)-C Motif Containing 4

(Previous names: mature T-cell proliferation 1 neighbor, C-x(9)-C motif containing...)
(Previous symbols: MTCP1, MTCP1NB)
  See CMC4-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)
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Aliases
C-X(9)-C Motif Containing 41 2     p8MTCP12 3
MTCP11 2 3     C-X(9)-C Motif Containing 4 Homolog (S. Cerevisiae)1
MTCP1NB1 2 3     Isoform P81
Mature T-Cell Proliferation 11 2     Mature T-Cell Proliferation 1 Neighbor1
Mature T-Cell Proliferation 1 Neighbor Protein2 3     MTCP1B2
Mature T-Cell Proliferation-1 Type A2 3     C-X(9)-C Motif Containing 4 Homolog2
Protein P8 MTCP-12 3     Cx9C Motif-Containing Protein 42
C6.1B2 3     p82
MTCP-1 Type A2 3     

External Ids:    HGNC: 354281   Entrez Gene: 1002721472   Ensembl: ENSG000001827127   UniProtKB: P562773   

Export aliases for CMC4 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CMC4 Gene:
This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell
proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two
different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein
that localizes to mitochondria.(provided by RefSeq, Mar 2009)

GeneCards Summary for CMC4 Gene:
CMC4 (C-x(9)-C motif containing 4) is a protein-coding gene. Diseases associated with CMC4 include medulloblastoma, desmoplastic.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CMC4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CMC4 promoter sequence
   Search Chromatin IP Primers for CMC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CMC4


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

CMC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMC4 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM154291:  view genomic region     (about GC identifiers)

Start:
154,289,897 bp from pter      End:
154,299,637 bp from pter
Size:
9,741 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CMC4_HUMAN, P56277 (See protein sequence)
Recommended Name: Cx9C motif-containing protein 4  
Size: 68 amino acids; 7747 Da
Caution: MTCP1 and MTCP1NB are transcribed from the same promoter and could be considered the same gene
3 PDB 3D structures from and Proteopedia for CMC4:
1EI0 (3D)        1HP8 (3D)        2HP8 (3D)    
Secondary accessions: Q5HYP9
Alternative splicing: 2 isoforms:  P56277-1   P56278-1   (Shares a non-coding 5' exon with isoform 1 which is spliced to a different set of 3' exons encoding an unrelated protein)

Explore the universe of human proteins at neXtProt for CMC4: NX_P56277

Explore proteomics data for CMC4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CMC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001018024.1  
    ENSEMBL proteins: 
     ENSP00000358496   ENSP00000358491  

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    antibodies-online proteins for CMC4 

     
    antibodies-online peptides for CMC4

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    antibodies-online antibodies for CMC4 (2 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027179 DUF1903
     IPR009069 Cys_alpha_HP_mot_SF

    Graphical View of Domain Structure for InterPro Entry P56277

    ProtoNet protein and cluster: P56277

    UniProtKB/Swiss-Prot: CMC4_HUMAN, P56277
    Domain: The twin Cx9C motifs are involved in the recognition by the mitochondrial disulfide relay system (By
    similarity)
    Similarity: Belongs to the CMC4 family


    Find genes that share domains with CMC4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CMC4

    miRNA
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    miRTarBase miRNAs that target CMC4:
    hsa-mir-26b-5p (MIRT029060)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CMC4_HUMAN, P56277: Mitochondrion

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--

    Find genes that share ontologies with CMC4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CMC4
    Interactions:

        Search GeneGlobe Interaction Network for CMC4

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CMC4 (P562773 ENSP000003584914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EWSR1Q018443, ENSP000003810314I2D: score=1 STRING: ENSP00000381031
    AKT2P317513I2D: score=1 
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008283cell proliferation TAS8361760

    Find genes that share ontologies with CMC4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CMC4



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CMC4 gene: 
    NM_001018024.2  

    Unigene Cluster for CMC4:

    C-x(9)-C motif containing 4 homolog (S. cerevisiae)
    Hs.6917  [show with all ESTs]
    Unigene Representative Sequence: NM_001018025
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369484(uc004fmy.3) ENST00000369479
    miRNA
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    Additional mRNA sequence: 

    BC002600.1 BT006749.1 X64644.1 

    6 DOTS entries:

    DT.91751384  DT.102888  DT.91751382  DT.95266334  DT.121303633  DT.40106416 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CMC4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
    SP1:                                                                  
    SP2:              -                                                   
    SP3:              -     -     -     -     -     -                     
    SP4:                                                                  


    ECgene alternative splicing isoforms for CMC4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CMC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CMC4 Expression
    About this image

    CMC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CMC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6917

    UniProtKB/Swiss-Prot: CMC4_HUMAN, P56277
    Tissue specificity: Expressed in many tissues with a relatively high level in skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMC4

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CMC4 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtcp11 mature T cell proliferation 1 86.76(n)
    88.24(a)
      17763  NM_010839.5  NP_034969.1 
    chicken
    (Gallus gallus)
    Aves MTCP1NB1 mature T-cell proliferation 1 neighbor 76.92(n)
    80(a)
      769944  XM_004940626.1  XP_004940683.1 
    lizard
    (Anolis carolinensis)
    Reptilia CMC46
    C-x(9)-C motif containing 4
    69(a)
    1 ↔ 1
    GL343528.1(418862-419968)
    zebrafish
    (Danio rerio)
    Actinopterygii cmc46
    C-x(9)-C motif containing 4 homolog (S. cerevisiae...
    56(a)
    1 ↔ 1
    21(44444619-44445126) ENSDARG00000097030


    ENSEMBL Gene Tree for CMC4 (if available)
    TreeFam Gene Tree for CMC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CMC4 (see all 36)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1902492561,2
    --154289493(+) GAGGCA/GGGCAG 1 -- ds50010--------
    rs1123257121,2
    C--154289608(+) AGCTAC/G/TTTGGG 1 -- ds50010--------
    rs1928489021,2
    --154289753(+) AAAATG/TGTGAT 1 -- ds50010--------
    rs1847616041,2
    --154290011(+) AACTTC/TTGTAG 1 -- ut310--------
    rs1382834041,2
    C,F--154290120(+) ACTTTA/GCTTTG 2 Q * stop-lost1Minor allele frequency- G:0.00NA 4548
    rs20003261,2
    C,F,H--154290131(-) GAAGTC/TTGCAT 2 S F mis19Minor allele frequency- T:0.02NA EA NS 956
    rs2004207151,2
    --154290153(+) TTCTTC/TCTCTT 2 K E mis10--------
    rs1465542471,2
    C,F--154290176(+) CTGAAC/GAGACG 2 S C mis11Minor allele frequency- G:0.00NA 4548
    rs1412026251,2
    C,F--154290190(+) GATCTT/GCCCTT 2 /G syn11Minor allele frequency- G:0.00NA 4548
    rs1818138551,2
    C--154290218(+) ACTTAC/TGCAGT 2 H R mis10--------

    HapMap Linkage Disequilibrium report for CMC4 (154289897 - 154299637 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CMC4: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CMC4
    DNA2.0 Custom Variant and Variant Library Synthesis for CMC4

    (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.)
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    UniProtKB/Swiss-Prot: CMC4_HUMAN, P56277
  • Note=Overexpressed in T-cell leukemia bearing a t(X;14) translocation

  • 1 disease for CMC4:    
    About MalaCards
    medulloblastoma, desmoplastic


    Find genes that share disorders with CMC4           About GenesLikeMe


    Export disorders for CMC4 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)
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    PubMed articles for CMC4 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with CMC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Solution structure of human p8MTCP1, a cysteine-rich protein encoded by the MTCP1 oncogene, reveals a new alpha-helical assembly motif. (PubMed id 9405159)1, 2, 3 Barthe P....Roumestand C. (J. Mol. Biol. 1997)
    2. MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations. (PubMed id 8361760)1, 2, 3 Stern M.-H.... Kirsch I.R. (Oncogene 1993)
    3. Genome-wide analysis of eukaryotic twin CX9C proteins. (PubMed id 20922212)1, 3 Cavallaro G. (Mol Biosyst 2010)
    4. 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. (Genome Res. 2004)
    5. The 8 kD product of the putative oncogene MTCP-1 is a mitochondrial protein. (PubMed id 7784073)1, 2 Madani A.... Stern M.-H. (Oncogene 1995)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 100272147 HGNC: 35428 Ensembl:ENSG00000182712 euGenes: HUgn100272147 ECgene: CMC4
    H-InvDB: CMC4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CMC4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CMC4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CMC4 gene:
    Search GeneIP for patents involving CMC4

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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