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Aliases for MCC Gene

Aliases for MCC Gene

  • Mutated In Colorectal Cancers 2 3 5
  • Colorectal Mutant Cancer Protein 3
  • Protein MCC 4
  • MCC1 3

External Ids for MCC Gene

Previous GeneCards Identifiers for MCC Gene

  • GC05M111957
  • GC05M112808
  • GC05M112392
  • GC05M112437
  • GC05M112434
  • GC05M112388
  • GC05M107537

Summaries for MCC Gene

Entrez Gene Summary for MCC Gene

  • This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCC Gene

MCC (Mutated In Colorectal Cancers) is a Protein Coding gene. Diseases associated with MCC include Colorectal Cancer and Colonic Benign Neoplasm. Gene Ontology (GO) annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is USHBP1.

UniProtKB/Swiss-Prot for MCC Gene

  • Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780).

Gene Wiki entry for MCC Gene

Additional gene information for MCC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCC Gene

Genomics for MCC Gene

GeneHancer (GH) Regulatory Elements for MCC Gene

Promoters and enhancers for MCC 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
GH05I113292 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 557.6 +194.6 194609 3 PKNOX1 FEZF1 ZNF2 ZBTB7B GLIS2 ZNF213 KLF7 SP3 REST ZNF610 MCC ENSG00000232633 YTHDC2 PIR40347
GH05I113487 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 62 3.1 ZNF493 SIN3A DMAP1 GLI4 ZNF2 GLIS2 FOS RUNX3 YY2 ZHX2 MCC YTHDC2 ENSG00000272389 TSSK1B
GH05I112973 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18 +511.9 511904 7.4 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 NFYC ZNF610 DCP2 LOC105379126 YTHDC2 MCC PIR41975
GH05I113018 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.6 +467.5 467461 6.2 ELF3 FOXA2 MLX NFIB NSD2 RARA SMARCC2 ETV6 FOS CREM MCC DCP2 PIR41975 PIR31441
GH05I112966 Enhancer 1.2 Ensembl ENCODE 17.4 +520.3 520262 3.8 PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 IRF4 ZNF766 JUNB ZNF592 MCC DCP2 GC05M112939 LOC105379126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCC gene promoter:

Genomic Locations for MCC Gene

Genomic Locations for MCC Gene
chr5:113,022,099-113,488,830
(GRCh38/hg38)
Size:
466,732 bases
Orientation:
Minus strand
chr5:112,357,796-112,824,527
(GRCh37/hg19)

Genomic View for MCC Gene

Genes around MCC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MCC Gene

Proteins for MCC Gene

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

    Protein Symbol:
    P23508-CRCM_HUMAN
    Recommended name:
    Colorectal mutant cancer protein
    Protein Accession:
    P23508
    Secondary Accessions:
    • D3DT05
    • Q6ZR04

    Protein attributes for MCC Gene

    Size:
    829 amino acids
    Molecular mass:
    93027 Da
    Quaternary structure:
    • Interacts with SCRIB (via phosphorylated PDZ-binding motif), EZR, SNX27, SLC9A3R1 and SLC9A3R2. Interacts with CTNNB1; the interaction is enhanced upon Wnt stimulation. Interacts with MYH10. Interacts with CCAR2.

    Alternative splice isoforms for MCC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCC Gene

Post-translational modifications for MCC Gene

No Post-translational modifications

No data available for DME Specific Peptides for MCC Gene

Domains & Families for MCC Gene

Gene Families for MCC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MCC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23508

UniProtKB/Swiss-Prot:

CRCM_HUMAN :
  • Belongs to the MCC family.
Family:
  • Belongs to the MCC family.
genes like me logo Genes that share domains with MCC: view

Function for MCC Gene

Molecular function for MCC Gene

GENATLAS Biochemistry:
mutated in colorectal cancer (see TSG5A)
UniProtKB/Swiss-Prot Function:
Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780).

Phenotypes From GWAS Catalog for MCC Gene

Gene Ontology (GO) - Molecular Function for MCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 1848370
GO:0005515 protein binding IPI 18591935
genes like me logo Genes that share ontologies with MCC: view
genes like me logo Genes that share phenotypes with MCC: view

miRNA for MCC Gene

miRTarBase miRNAs that target MCC

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MCC Gene

Localization for MCC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCC Gene

Cell membrane. Cell projection, lamellipodium. Nucleus. Cytoplasm. Note=Colocalizes with actin at the leading edge of polarized cells.

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 MCC gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18591935
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 18591935
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA 19555689
genes like me logo Genes that share ontologies with MCC: view

Pathways & Interactions for MCC Gene

No Data Available

Gene Ontology (GO) - Biological Process for MCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 1848370
GO:0010633 negative regulation of epithelial cell migration IMP 19555689
GO:0016055 Wnt signaling pathway IEA --
GO:0045184 establishment of protein localization IDA 18591935
GO:0050680 negative regulation of epithelial cell proliferation IDA 18591935
genes like me logo Genes that share ontologies with MCC: view

No data available for Pathways by source and SIGNOR curated interactions for MCC Gene

Drugs & Compounds for MCC Gene

No Compound Related Data Available

Transcripts for MCC Gene

Unigene Clusters for MCC Gene

Mutated in colorectal cancers:
Representative Sequences:

Clone Products

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

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

Relevant External Links for MCC Gene

GeneLoc Exon Structure for
MCC
ECgene alternative splicing isoforms for
MCC

Expression for MCC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCC Gene

This gene is overexpressed in Ovary (x8.1).

Protein differential expression in normal tissues from HIPED for MCC Gene

This gene is overexpressed in Ovary (14.7), Bone marrow stromal cell (11.6), Breast (11.1), Adrenal (8.5), and Retina (7.5).

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



NURSA nuclear receptor signaling pathways regulating expression of MCC Gene:

MCC

SOURCE GeneReport for Unigene cluster for MCC Gene:

Hs.593171

mRNA Expression by UniProt/SwissProt for MCC Gene:

P23508-CRCM_HUMAN
Tissue specificity: Expressed in a variety of tissues.

Evidence on tissue expression from TISSUES for MCC Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Muscle(4.2)
  • Eye(2.4)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • reproductive
  • urinary
Organs:
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
genes like me logo Genes that share expression patterns with MCC: view

No data available for Protein tissue co-expression partners for MCC Gene

Orthologs for MCC Gene

This gene was present in the common ancestor of animals.

Orthologs for MCC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCC 33 34
  • 99.3 (n)
oppossum
(Monodelphis domestica)
Mammalia MCC 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCC 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCC 33 34
  • 91.48 (n)
cow
(Bos Taurus)
Mammalia MCC 33 34
  • 89.79 (n)
mouse
(Mus musculus)
Mammalia Mcc 33 16 34
  • 88.27 (n)
rat
(Rattus norvegicus)
Mammalia Mcc 33
  • 87.36 (n)
chicken
(Gallus gallus)
Aves MCC 33 34
  • 79.7 (n)
lizard
(Anolis carolinensis)
Reptilia MCC 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcc 33
  • 78.33 (n)
zebrafish
(Danio rerio)
Actinopterygii MCC 34
  • 83 (a)
OneToOne
mcc 33
  • 76.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34404 34
  • 23 (a)
OneToMany
Species where no ortholog for MCC 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MCC Gene

ENSEMBL:
Gene Tree for MCC (if available)
TreeFam:
Gene Tree for MCC (if available)

Paralogs for MCC Gene

Paralogs for MCC Gene

(1) SIMAP similar genes for MCC Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MCC: view

Variants for MCC Gene

Sequence variations from dbSNP and Humsavar for MCC Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs121917731 pathogenic, Carcinoma of colon, Colorectal cancer samples 113,043,623(-) G/A coding_sequence_variant, missense_variant
rs121917732 pathogenic, Carcinoma of colon, Colorectal cancer samples 113,064,110(-) C/T coding_sequence_variant, missense_variant
rs35269015 A colorectal cancer sample 113,068,082(-) G/A coding_sequence_variant, missense_variant
rs760495893 A colorectal cancer sample 113,064,158(-) G/A coding_sequence_variant, missense_variant
rs760873189 uncertain-significance, Malignant tumor of prostate 113,143,302(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv10010n54 CNV loss 21841781
esv1010186 CNV insertion 20482838
esv1419638 CNV insertion 17803354
esv1680514 CNV insertion 17803354
esv1715529 CNV insertion 17803354
esv22346 CNV loss 19812545
esv25166 CNV loss 19812545
esv26027 CNV gain 19812545
esv2660679 CNV deletion 23128226
esv2666148 CNV deletion 23128226
esv2669481 CNV deletion 23128226
esv2671074 CNV deletion 23128226
esv2730602 CNV deletion 23290073
esv2730603 CNV deletion 23290073
esv3310525 CNV novel sequence insertion 20981092
esv3410089 CNV insertion 20981092
esv3428228 CNV duplication 20981092
esv3566466 CNV deletion 23714750
esv3566472 CNV deletion 23714750
esv3566473 CNV deletion 23714750
esv3570351 CNV loss 25503493
esv3570352 CNV loss 25503493
esv3570353 CNV loss 25503493
esv3570355 CNV loss 25503493
esv3570356 CNV loss 25503493
esv3570357 CNV loss 25503493
esv3606306 CNV loss 21293372
esv3606308 CNV loss 21293372
esv3606309 CNV loss 21293372
esv3606310 CNV loss 21293372
esv3606311 CNV gain 21293372
esv3606314 CNV loss 21293372
esv3606315 CNV loss 21293372
esv3606316 CNV loss 21293372
esv3890710 CNV gain 25118596
esv3890711 CNV loss 25118596
nsv1018078 CNV gain 25217958
nsv1018344 CNV loss 25217958
nsv1024747 CNV loss 25217958
nsv1028759 CNV gain 25217958
nsv1032798 CNV gain 25217958
nsv1117985 CNV deletion 24896259
nsv1161277 CNV duplication 26073780
nsv1161278 CNV duplication 26073780
nsv329870 CNV deletion 16902084
nsv329948 CNV deletion 16902084
nsv471785 CNV loss 16327809
nsv479163 CNV novel sequence insertion 20440878
nsv509990 OTHER sequence alteration 20534489
nsv512858 CNV insertion 21212237
nsv516887 CNV loss 19592680
nsv528441 CNV loss 19592680
nsv528805 CNV loss 19592680
nsv599394 CNV gain 21841781
nsv599395 CNV loss 21841781
nsv599396 CNV loss 21841781
nsv599399 CNV loss 21841781
nsv599400 CNV loss 21841781
nsv950115 CNV duplication 24416366

Variation tolerance for MCC Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.14; 90.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCC Gene

Human Gene Mutation Database (HGMD)
MCC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCC

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

Disorders for MCC Gene

MalaCards: The human disease database

(3) MalaCards diseases for MCC Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • crc
colonic benign neoplasm
  • colon neoplasm
familial adenomatous polyposis
  • fap
- elite association - COSMIC cancer census association via MalaCards
Search MCC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MCC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MCC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MCC Gene

Publications for MCC Gene

  1. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. (PMID: 1848370) Kinzler KW … Markham A (Science (New York, N.Y.) 1991) 2 3 4 22 58
  2. MCC inhibits beta-catenin transcriptional activity by sequestering DBC1 in the cytoplasm. (PMID: 24824780) Pangon L … Kohonen-Corish MR (International journal of cancer 2015) 3 4 58
  3. Mutated in colorectal cancer (MCC) is a novel oncogene in B lymphocytes. (PMID: 25200342) Edwards SK … Xie P (Journal of hematology & oncology 2014) 2 3 58
  4. The PDZ-binding motif of MCC is phosphorylated at position -1 and controls lamellipodia formation in colon epithelial cells. (PMID: 22480440) Pangon L … Kohonen-Corish MR (Biochimica et biophysica acta 2012) 3 4 58
  5. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. (PMID: 21326311) Bhatnagar P … Keefer JR (Journal of human genetics 2011) 3 44 58

Products for MCC Gene

Sources for MCC Gene

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