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MUC12 mucin 12, cell surface associated [ Homo sapiens (human) ]

Gene ID: 10071, updated on 14-Nov-2024

Summary

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Official Symbol
MUC12provided by HGNC
Official Full Name
mucin 12, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:7510
See related
Ensembl:ENSG00000205277 MIM:604609; AllianceGenome:HGNC:7510
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MUC11; MUC-11; MUC-12
Summary
This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]
Expression
Restricted expression toward colon (RPKM 48.0) See more
Orthologs
all
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Genomic context

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See MUC12 in Genome Data Viewer
Location:
7q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100969565..101018936)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102274808..102341752)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100612846..100662217)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375431 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:100541229-100541778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100546705-100547685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100547686-100548665 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:100548721-100549266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100551103-100551603 Neighboring gene uncharacterized LOC124900622 Neighboring gene mucin 3A, cell surface associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100640603-100641456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100641457-100642309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100658552-100659220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26396 Neighboring gene Sharpr-MPRA regulatory region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26397 Neighboring gene MUC12 antisense RNA 1 Neighboring gene mucin 17, cell surface associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100709117-100709986 Neighboring gene RN7SK pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100727119-100727619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100730454-100731094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100731095-100731734 Neighboring gene tripartite motif containing 56

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
    Title: piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
  2. The oncogenic role of MUC12 in RCC progression depends on c-Jun/TGF-beta signalling.
    Title: The oncogenic role of MUC12 in RCC progression depends on c-Jun/TGF-β signalling.
  3. Mucin12 is a protein that shows common antigenicity in both A. lumbricoides and its human host.
    Title: Shared expression of mucin12 in Ascaris lumbricoides and the human small intestine.
  4. Patients with active ulcerative colitis(UC) showed no significant expression of MUC12 gene in mucosa compared to the group of patients with UC in remission
    Title: Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis.
  5. Multivariate analysis disclosed that MUC12 expression status was an independent prognostic factor in Stages II and III CRC (relative risk, 8.236; 95% confidence interval, 1.702-39.849 p = 0.009).
    Title: MUC12 mRNA expression is an independent marker of prognosis in stage II and stage III colorectal cancer.
  6. Reflux laryngitis is associated with down-regulation of mucin gene expression.
    Title: Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of cell growth NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
mucin-12
Names
mucin-11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053126.1 RefSeqGene

    Range
    4943..54314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164462.2 → NP_001157934.1  mucin-12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC105446, AC254629
    Consensus CDS
    CCDS55139.1
    UniProtKB/Swiss-Prot
    Q9UKN1
    Related
    ENSP00000441929.1, ENST00000536621.6
    Conserved Domains (1) summary
    pfam01390
    Location:5032 → 5119
    SEA; SEA domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100969565..101018936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    102274808..102341752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKN1.2 GenPept UniProtKB/Swiss-Prot:Q9UKN1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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