Gene Gene information from NCBI Gene database.
Entrez ID 4163
Gene name MCC regulator of Wnt signaling pathway
Gene symbol MCC
Synonyms (NCBI Gene)
MCC1
Chromosome 5
Chromosome location 5q22.2
Summary 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 overexpr
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121917731 G>A Pathogenic Coding sequence variant, missense variant
rs121917732 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
689
miRTarBase ID miRNA Experiments Reference
MIRT021365 hsa-miR-9-5p Microarray 17612493
MIRT029556 hsa-miR-26b-5p Microarray 19088304
MIRT438243 hsa-miR-494-3p Luciferase reporter assayqRT-PCRWestern blot 23913442
MIRT438243 hsa-miR-494-3p Luciferase reporter assayqRT-PCRWestern blot 23913442
MIRT489973 hsa-miR-4687-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14743216, 18591935, 19555689, 21900206, 21988832, 23455922, 24824780, 26496610, 28330616, 29144123, 30126976, 32296183, 32707033, 33961781, 35271311
GO:0005634 Component Nucleus IDA 18591935, 24824780
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
159350 6935 ENSG00000171444
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23508
Protein name Colorectal mutant cancer protein (Protein MCC)
Protein 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 cel
PDB 6MTU , 6MTV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10506 MCC-bdg_PDZ 402 466 PDZ domain of MCC-2 bdg protein for Usher syndrome Domain
PF10506 MCC-bdg_PDZ 732 798 PDZ domain of MCC-2 bdg protein for Usher syndrome Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of tissues.
Sequence
MNSGVAMKYGNDSSAELSELHSAALASLKGDIVELNKRLQQTERERDLLEKKLAKAQCEQ
SHLMREHEDVQERTTLRYEERITELHSVIAELNKKIDRLQGTTIREEDEYSELRSELSQS
QHEVNEDSRSMDQDQTSVSIPENQSTMVTADMDNCSDLNSELQRVLTGLENVVCGRKKSS
CSLSVAEVDKHIEQLTTASEHCDLAIKTVEEIEGVLGRDLYPNLAEERSRWEKELAGLRE
ENESLTAMLCSKEEELNRTKATMNAIREERDRLRRRVRELQTRLQSVQATGPSSPGRLTS
TNRPINPSTGELSTSSSSNDIPIAKIAERVKLSKTRSESSSSDRPVLGSEISSIGVSSSV
AEHLAHSLQDCSNIQEIFQTLYSHGSAISESKIREFEVETERLNSRIEHLKSQNDLLTIT
LEECKSNAERMSMLVGKYESNATALRLALQYSEQCIEAYELLLALA
ESEQSLILGQFRAA
GVGSSPGDQSGDENITQMLKRAHDCRKTAENAAKALLMKLDGSCGGAFAVAGCSVQPWES
LSSNSHTSTTSSTASSCDTEFTKEDEQRLKDYIQQLKNDRAAVKLTMLELESIHIDPLSY
DVKPRGDSQRLDLENAVLMQELMAMKEEMAELKAQLYLLEKEKKALELKLSTREAQEQAY
LVHIEHLKSEVEEQKEQRMRSLSSTSSGSKDKPGKECADAASPALSLAELRTTCSENELA
AEFTNAIRREKKLKARVQELVSALERLTKSSEIRHQQSAEFVNDLKRANSNLVAAYEKAK
KKHQNKLKKLESQMMAMV
ERHETQVRMLKQRIALLEEENSRPHTNETSL
Sequence length 829
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Carcinoma of colon Pathogenic rs121917731, rs121917732 RCV000015266
RCV000015267
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3-methylcrotonyl CoA carboxylase 1 deficiency 3-methylcrotonyl CoA carboxylase deficiency BEFREE 25356967
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10022131, 11338478, 8943812
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 24925057
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12447697, 12901725, 1347524, 1565631, 1643645, 1651563, 1656365, 1682292, 18790758, 21279955, 24200292, 29348204, 29956755, 8318691, 8764128
View all (2 more)
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome CTD_human_DG 8071957
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia GWASCAT_DG 21326311
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 8774571
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 8071957
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus BEFREE 11338478
★☆☆☆☆
Found in Text Mining only