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Aliases for CMC4 Gene

Aliases for CMC4 Gene

  • C-X9-C Motif Containing 4 2 3 5
  • Mature T-Cell Proliferation 1 Neighbor Protein 3 4
  • Mature T-Cell Proliferation-1 Type A 3 4
  • Protein P8 MTCP-1 3 4
  • MTCP-1 Type A 3 4
  • MTCP1NB 3 4
  • P8MTCP1 3 4
  • MTCP1 3 4
  • C6.1B 3 4
  • C-X(9)-C Motif Containing 4 Homolog (S. Cerevisiae) 2
  • Mature T-Cell Proliferation 1, Isoform P8 2
  • Mature T-Cell Proliferation 1 Neighbor 2
  • C-X(9)-C Motif Containing 4 Homolog 3
  • Cx9C Motif-Containing Protein 4 3
  • Mature T-Cell Proliferation 1 3
  • C-X(9)-C Motif Containing 4 2
  • MTCP1B 3
  • P8 3

External Ids for CMC4 Gene

Previous HGNC Symbols for CMC4 Gene

  • MTCP1
  • MTCP1NB

Previous GeneCards Identifiers for CMC4 Gene

  • GC0XM154291

Summaries for CMC4 Gene

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-X9-C Motif Containing 4) is a Protein Coding gene. Diseases associated with CMC4 include Moyamoya Disease 1. Among its related pathways are Metabolism of proteins and Mitochondrial protein import.

Additional gene information for CMC4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMC4 Gene

Genomics for CMC4 Gene

GeneHancer (GH) Regulatory Elements for CMC4 Gene

Promoters and enhancers for CMC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ155067 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 650.7 +1.1 1109 4.9 FOXA2 ARID4B SIN3A GLI4 ZNF2 YY1 POLR2B GLIS2 ZNF213 ELK1 CMC4 BRCC3 DNASE1L1 F8 MTCP1
GH0XJ155147 Promoter 0.9 EPDnew 650.2 -76.4 -76433 0.1 MEIS2 PKNOX1 ARNT ZBTB5 CC2D1A NFIC CTBP1 IKZF1 MTCP1 CMC4 ENSG00000235991 GC0XP155104
GH0XJ155061 Promoter 0.6 EPDnew 650.4 +9.4 9427 0.1 POLR2A CMC4 F8 MTCP1
GH0XJ154917 Enhancer 0.9 Ensembl ENCODE 12 +153.1 153098 0.5 CTCF RB1 ZNF2 RAD21 CC2D1A E2F8 ARID2 ZNF143 SMC3 ZNF444 LOC100419792 EEF1A1P31 BRCC3 CMC4 MTCP1 ENSG00000224069 F8
GH0XJ155049 Enhancer 0.5 Ensembl 12.6 +22.2 22161 0.4 SCRT1 CTCF ZNF654 SCRT2 ZNF143 EHMT2 RAD21 F8A1 CMC4 BRCC3 MTCP1 F8 FUNDC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CMC4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CMC4 Gene

Genomic Locations for CMC4 Gene
chrX:155,061,622-155,071,362
(GRCh38/hg38)
Size:
9,741 bases
Orientation:
Minus strand
chrX:154,289,897-154,299,637
(GRCh37/hg19)

Genomic View for CMC4 Gene

Genes around CMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMC4 Gene

Proteins for CMC4 Gene

  • Protein details for CMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56277-CMC4_HUMAN
    Recommended name:
    Cx9C motif-containing protein 4
    Protein Accession:
    P56277
    Secondary Accessions:
    • Q5HYP9

    Protein attributes for CMC4 Gene

    Size:
    68 amino acids
    Molecular mass:
    7747 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CMC4 Gene

    Alternative splice isoforms for CMC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CMC4 Gene

Post-translational modifications for CMC4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CMC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CMC4 Gene

Domains & Families for CMC4 Gene

Gene Families for CMC4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CMC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CMC4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56277

UniProtKB/Swiss-Prot:

CMC4_HUMAN :
  • The twin Cx9C motifs are involved in the recognition by the mitochondrial disulfide relay system.
  • Belongs to the CMC4 family.
Domain:
  • The twin Cx9C motifs are involved in the recognition by the mitochondrial disulfide relay system.
Family:
  • Belongs to the CMC4 family.
genes like me logo Genes that share domains with CMC4: view

Function for CMC4 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMC4 Gene

Localization for CMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMC4 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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 CMC4 gene
Compartment Confidence
mitochondrion 5
extracellular 3
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005758 mitochondrial intermembrane space IBA --
genes like me logo Genes that share ontologies with CMC4: view

Pathways & Interactions for CMC4 Gene

genes like me logo Genes that share pathways with CMC4: view

Pathways by source for CMC4 Gene

2 Reactome pathways for CMC4 Gene

Interacting Proteins for CMC4 Gene

Selected Interacting proteins: P56277-CMC4_HUMAN for CMC4 Gene via IID

Symbol External ID(s) Details
AKT2
EWSR1

Gene Ontology (GO) - Biological Process for CMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation TAS 8361760
genes like me logo Genes that share ontologies with CMC4: view

No data available for SIGNOR curated interactions for CMC4 Gene

Drugs & Compounds for CMC4 Gene

No Compound Related Data Available

Transcripts for CMC4 Gene

mRNA/cDNA for CMC4 Gene

(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CMC4 Gene

C-x(9)-C motif containing 4 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CMC4 Gene

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

Relevant External Links for CMC4 Gene

GeneLoc Exon Structure for
CMC4
ECgene alternative splicing isoforms for
CMC4

Expression for CMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CMC4 Gene

Protein differential expression in normal tissues from HIPED for CMC4 Gene

This gene is overexpressed in Fetal testis (13.1), Heart (9.3), Pancreas (8.4), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CMC4 Gene



Protein tissue co-expression partners for CMC4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CMC4 Gene:

CMC4

SOURCE GeneReport for Unigene cluster for CMC4 Gene:

Hs.6917

mRNA Expression by UniProt/SwissProt for CMC4 Gene:

P56277-CMC4_HUMAN
Tissue specificity: Expressed in many tissues with a relatively high level in skeletal muscle.

Evidence on tissue expression from TISSUES for CMC4 Gene

  • Blood(4.1)
  • Liver(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CMC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMC4 Gene

Orthologs for CMC4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CMC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CMC4 34 33
  • 99.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CMC4 33
  • 92.45 (n)
-- 34
  • 88 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MTCP1NB 33
  • 92.19 (n)
CMC4 34
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtcp1 16 34 33
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia LOC102546764 33
  • 71.57 (n)
chicken
(Gallus gallus)
Aves MTCP1NB 33
  • 76.92 (n)
CMC4 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMC4 34
  • 69 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cmc4 34
  • 56 (a)
OneToOne
Species where no ortholog for CMC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CMC4 Gene

ENSEMBL:
Gene Tree for CMC4 (if available)
TreeFam:
Gene Tree for CMC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CMC4: view image

Paralogs for CMC4 Gene

No data available for Paralogs for CMC4 Gene

Variants for CMC4 Gene

Sequence variations from dbSNP and Humsavar for CMC4 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs869312530 likely-benign, Hereditary cancer-predisposing syndrome 155,071,734(-) T/C upstream_transcript_variant
rs1000285506 -- 155,070,923(-) A/G 5_prime_UTR_variant
rs1002504314 -- 155,062,154(-) C/T intron_variant
rs1003030322 -- 155,061,518(-) T/C downstream_transcript_variant
rs1003621099 -- 155,064,347(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CMC4 Gene

Variant ID Type Subtype PubMed ID
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407

Variation tolerance for CMC4 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CMC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMC4 Gene

Disorders for CMC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CMC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards
Search CMC4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CMC4_HUMAN
  • Note=Overexpressed in T-cell leukemia bearing a t(X;14) translocation. {ECO:0000269 PubMed:8361760}.

Additional Disease Information for CMC4

genes like me logo Genes that share disorders with CMC4: view

No data available for Genatlas for CMC4 Gene

Publications for CMC4 Gene

  1. Solution structure of human p8MTCP1, a cysteine-rich protein encoded by the MTCP1 oncogene, reveals a new alpha-helical assembly motif. (PMID: 9405159) Barthe P … Roumestand C (Journal of molecular biology 1997) 2 3 4 58
  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. (PMID: 8361760) Stern MH … Kirsch IR (Oncogene 1993) 2 3 4 58
  3. Genome-wide analysis of eukaryotic twin CX9C proteins. (PMID: 20922212) Cavallaro G (Molecular bioSystems 2010) 2 3 58
  4. 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 58
  5. The 8 kD product of the putative oncogene MTCP-1 is a mitochondrial protein. (PMID: 7784073) Madani A … Stern MH (Oncogene 1995) 3 4 58

Products for CMC4 Gene

Sources for CMC4 Gene

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