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MUC4 mucin 4, cell surface associated [ Homo sapiens (human) ]

Gene ID: 4585, updated on 2-Nov-2024

Summary

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Official Symbol
MUC4provided by HGNC
Official Full Name
mucin 4, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:7514
See related
Ensembl:ENSG00000145113 MIM:158372; AllianceGenome:HGNC:7514
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
ASGP; MUC-4; HSA276359
Summary
The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]
Annotation information
Annotation category: suggests misassembly
Expression
Biased expression in colon (RPKM 10.3), esophagus (RPKM 2.1) and 4 other tissues See more
Orthologs
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Genomic context

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See MUC4 in Genome Data Viewer
Location:
3q29
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (195746771..195811929, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (198546126..198620098)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195473642..195538800, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MIR570 host gene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:195431923-195432494 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195437307-195437978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195437979-195438649 Neighboring gene somatomedin B domain containing 1, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195453109-195453610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195461991-195462491 Neighboring gene mucin 20, cell surface associated Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195466177-195466985 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:195474413-195474579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195489021-195489522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195495435-195495936 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195508163-195508662 Neighboring gene Sharpr-MPRA regulatory region 430 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195533677-195534240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195535933-195536496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195536497-195537060 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195543301-195544106 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:195547535-195548734 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr3:195550530-195551217 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67540 and experimental_67545 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67549, experimental_67550 and experimental_67551 Neighboring gene MPRA-validated peak4987 silencer Neighboring gene uncharacterized LOC107984010 Neighboring gene long intergenic non-protein coding RNA 1983 Neighboring gene kinesin family member 3A pseudogene 1

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. A novel fatty acid metabolism-related signature identifies MUC4 as a novel therapy target for esophageal squamous cell carcinoma.
    Title: A novel fatty acid metabolism-related signature identifies MUC4 as a novel therapy target for esophageal squamous cell carcinoma.
  2. TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
    Title: TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
  3. Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development.
    Title: Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development.
  4. [Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria].
    Title: [Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria].
  5. LncRNA BBOX1-AS1 Contributes to the Development of Nasopharyngeal Carcinoma via miR-204-5p/MUC4 Axis.
    Title: LncRNA BBOX1-AS1 Contributes to the Development of Nasopharyngeal Carcinoma via miR-204-5p/MUC4 Axis.
  6. Genetic variants of MUC4 are associated with susceptibility to and mortality of colorectal cancer and exhibit synergistic effects with LDL-C levels.
    Title: Genetic variants of MUC4 are associated with susceptibility to and mortality of colorectal cancer and exhibit synergistic effects with LDL-C levels.
  7. Mucin 4 Confers Gemcitabine Resistance and an Unfavorable Prognosis in Patients with Cholangiocarcinoma via AKT Activation.
    Title: Mucin 4 Confers Gemcitabine Resistance and an Unfavorable Prognosis in Patients with Cholangiocarcinoma via AKT Activation.
  8. Mucin 4 protein is expressed in B-acute lymphoblastic leukemia and is restricted to BCR::ABL1-positive and BCR::ABL-like subtypes.
    Title: Mucin 4 protein is expressed in B-acute lymphoblastic leukemia and is restricted to BCR::ABL1-positive and BCR::ABL-like subtypes.
  9. Association Study between Mucin 4 (MUC4) Polymorphisms and Idiopathic Recurrent Pregnancy Loss in a Korean Population.
    Title: Association Study between Mucin 4 (MUC4) Polymorphisms and Idiopathic Recurrent Pregnancy Loss in a Korean Population.
  10. MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia.
    Title: MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (178)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

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

Function Evidence Code Pubs
enables ErbB-2 class receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellular matrix constituent, lubricant activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in maintenance of gastrointestinal epithelium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in vesicle HDA PubMed 

General protein information

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Preferred Names
mucin-4
Names
ascites sialoglycoprotein
mucin 4, tracheobronchial
pancreatic adenocarcinoma mucin
testis mucin
tracheobronchial mucin

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_053117.1 RefSeqGene

    Range
    5045..70203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322468.1 → NP_001309397.1  mucin-4 isoform f precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents an alternate allele with a longer tandem repeat region, compared to variant 1. The encoded isoform (f) has a longer variable length region than isoform a.
    Source sequence(s)
    AC069513, AC233280, AC239646
    UniProtKB/TrEMBL
    A0A0G2JS65
    Conserved Domains (3) summary
    smart00723
    Location:6559 → 6674
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    smart00216
    Location:6679 → 6859
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:6403 → 6560
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins

  2. NM_004532.6 → NP_004523.3  mucin-4 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also called MUC4/Y, lacks coding exon 2 as compared to transcript variant 1. As a result, variant 4 encodes isoform d, which has the same N- and C-termini as isoform a encoded by variant 1. Isoform d, thought to be a membrane-bound protein, lacks the variable length, highly glycosylated region found in isoform a.
    Source sequence(s)
    AC233280, AJ242549, AK307054, AW190850, BC131770, DB227644, EF091824
    Consensus CDS
    CCDS3310.1
    UniProtKB/TrEMBL
    A0A0G2JSC3
    Related
    ENSP00000304207.6, ENST00000346145.8
    Conserved Domains (3) summary
    smart00216
    Location:437 → 617
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:161 → 318
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
    cl02758
    Location:317 → 432
    AMOP; AMOP domain

  3. NM_018406.7 → NP_060876.5  mucin-4 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also called sv0, represents the reference genome allele and encodes isoform (a). Isoform a is thought to be a membrane-bound protein.
    Source sequence(s)
    AC069513, AC233280, AJ242550
    Consensus CDS
    CCDS54700.1
    UniProtKB/Swiss-Prot
    O95938, Q99102, Q9GZM2, Q9GZV6, Q9H481, Q9H482, Q9H483, Q9H484, Q9H485, Q9H486, Q9H487, Q9H4D6, Q9H4D8, Q9NPJ0, Q9NY09, Q9NY75, Q9NY76, Q9NY77, Q9NY78, Q9NY79, Q9NY80, Q9NY81
    UniProtKB/TrEMBL
    A0A0G2JNM3, E9PDY6
    Related
    ENSP00000417498.3, ENST00000463781.8
    Conserved Domains (5) summary
    smart00723
    Location:4553 → 4668
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    PRK12799
    Location:1715 → 1855
    motB; flagellar motor protein MotB; Reviewed
    smart00216
    Location:4673 → 4853
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:4397 → 4554
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
    NF033849
    Location:1832 → 2177
    ser_rich_anae_1; serine-rich protein

  4. NM_138297.5 → NP_612154.2  mucin-4 isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also called MUC4/X, lacks coding exons 2 and 3 as compared to transcript variant 1. As a result, variant 5 encodes isoform e, which has the same N- and C-termini as isoform a encoded by variant 1. Isoform e, thought to be a membrane-bound protein, lacks the variable length, highly glycosylated region found in isoform a.
    Source sequence(s)
    AC233280, AJ242550, AK307054, AW190850, BC131770, DB227644, EF091824
    Consensus CDS
    CCDS3311.1
    UniProtKB/TrEMBL
    A0A0G2JRU8
    Related
    ENSP00000338109.4, ENST00000349607.8
    Conserved Domains (3) summary
    smart00216
    Location:386 → 566
    VWD; von Willebrand factor (vWF) type D domain
    smart00539
    Location:110 → 267
    NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
    cl02758
    Location:266 → 381
    AMOP; AMOP 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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    195746771..195811929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187532.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    117262..189793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187649.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3208..47965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_187678.1 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    3208..49264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_187688.1 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    3208..47963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_187689.1 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    117268..181788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_187690.1 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    3208..47963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_187691.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    3208..47965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    198546126..198620098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138298.1: Suppressed sequence

    Description
    NM_138298.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_138299.1: Suppressed sequence

    Description
    NM_138299.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99102.5 GenPept UniProtKB/Swiss-Prot:Q99102

Gene LinkOut

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