• Gene id: 4589

Gene Summary

• Gene Symbol: MUC7   Gene   UCSC   Ensembl
• Aliases: MG2
• Gene name: mucin 7, secreted
• Alternate names: mucin-7, MUC-7, apo-MG2, mucin 7, salivary, salivary mucin-7,
• Gene location: 4q13.3 (70430491: 70482996)     Exons: 5     NC_000004.12
• Gene summary(Entrez): This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each
• OMIM: 158375

SNPs

rs118204043

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116628175C>T
NC_000006.11   g.116949338C>T
NG_012934.1   g.16697C>T
NM_001010892.2   c.1468C>T
NM_001010892.3   c.1468C>T
NM_001161664.1   c.1468C>T
XM_017010826.1   c.1468C>T
NP_001010892.1   p.Arg490Ter
NP_001155136.1   p.Arg490Ter
XP_016866315.1   p.

rs118204042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116616948C>T
NC_000006.11   g.116938111C>T
NG_012934.1   g.5470C>T
NM_001010892.2   c.325C>T
NM_001010892.3   c.325C>T
NM_001161664.1   c.325C>T
XM_017010826.1   c.325C>T
NP_001010892.1   p.Gln109Ter
NP_001155136.1   p.Gln109Ter
XP_016866315.1   p.Gln10

rs118204041

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116617083C>T
NC_000006.11   g.116938246C>T
NG_012934.1   g.5605C>T
NM_001010892.2   c.460C>T
NM_001010892.3   c.460C>T
NM_001161664.1   c.460C>T
XM_017010826.1   c.460C>T
NP_001010892.1   p.Gln154Ter
NP_001155136.1   p.Gln154Ter
XP_016866315.1   p.Gln15

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

Protein Summary

• Protein general information: Q8TAX7  
  • Name: Mucin 7 (MUC 7) (Apo MG2) (Salivary mucin 7)
  • Length: 377  
  • Mass: 39159
  • Tissue specificity: Expressed in salivary gland tissues and only in those that contain mucous acinar cells (e.g. sublingual and submandibular glands) and not in salivary glands containing only serous acinar cells (e.g. parotid gland). {ECO
• Sequence:

  MKTLPLFVCICALSACFSFSEGRERDHELRHRRHHHQSPKSHFELPHYPGLLAHQKPFIRKSYKCLHKRCRPKLP
  PSPNNPPKFPNPHQPPKHPDKNSSVVNPTLVATTQIPSVTFPSASTKITTLPNVTFLPQNATTISSRENVNTSSS
  VATLAPVNSPAPQDTTAAPPTPSATTPAPPSSSAPPETTAAPPTPSATTQAPPSSSAPPETTAAPPTPPATTPAP
  PSSSAPPETTAAPPTPSATTPAPLSSSAPPETTAVPPTPSATTLDPSSASAPPETTAAPPTPSATTPAPPSSPAP
  QETTAAPITTPNSSPTTLAPDTSETSAAPTHQTTTSVTTQTTTTKQPTSAPGQNKISRFLLYMKNLLNRIIDDMV
  EQ

• Structural information:
  • Interpro: IPR033529  
  • STRING: ENSP00000407422
• Other Databases: GeneCards:  MUC7  Malacards:  MUC7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0002223	stimulatory C-type lectin receptor signaling pathway	TAS	biological process
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04970	Salivary secretion

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq