Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4163
Gene name Gene Name - the full gene name approved by the HGNC.
MCC regulator of Wnt signaling pathway
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCC
Synonyms (NCBI Gene) Gene synonyms aliases
MCC1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q22.2
Summary Summary of gene provided in NCBI Entrez 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 overexpr
SNPs SNP information provided by dbSNP.
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.
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 assay, qRT-PCR, Western blot 23913442
MIRT438243 hsa-miR-494-3p Luciferase reporter assay, qRT-PCR, Western blot 23913442
MIRT489973 hsa-miR-4687-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18591935, 19555689, 21900206, 21988832, 23455922, 24824780, 26496610, 28330616, 29144123, 30126976, 32296183
GO:0005634 Component Nucleus IDA 18591935, 24824780
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 18591935, 24824780
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
159350 6935 ENSG00000171444
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
21326311
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
8071957
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28566273
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Cerebral amyloid angiopathy Cerebral amyloid angiopathy GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 1325652, 1339098, 1347524, 1565631, 1682292, 8178829
Breast Neoplasms Associate 21279955, 27208794
Colorectal Neoplasms Associate 1325652, 1339098, 1347524, 1565631, 1682292, 21279955, 25997006, 27208794, 27226254, 29695640, 7947085, 8178829
Communication Disorders Associate 31937830
Esophageal Neoplasms Associate 1565631
Gardner Syndrome Associate 1339098
Gastrointestinal Neoplasms Associate 1565631
Hereditary Breast and Ovarian Cancer Syndrome Associate 21279955
Hirschsprung Disease Associate 29695640
Lung Neoplasms Associate 40311306