• Gene id: 4097

Gene Summary

• Gene Symbol: MAFG   Gene   UCSC   Ensembl
• Aliases: hMAF
• Gene name: MAF bZIP transcription factor G
• Alternate names: transcription factor MafG, basic leucine zipper transcription factor MafG, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G,
• Gene location: 17q25.3 (98948005: 98868534)     Exons: 12     NC_000006.12
• Gene summary(Entrez): Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DN
• OMIM: 602020

Protein Summary

• Protein general information: O15525  
  • Name: Transcription factor MafG (V maf musculoaponeurotic fibrosarcoma oncogene homolog G) (hMAF)
  • Length: 162  
  • Mass: 17850
  • Tissue specificity: Highly expressed in skeletal muscle. Also expressed in heart and brain.
• Sequence:

  MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQ
  KEELEKQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLAAGLGPLVPGKVAATSV
  ITIVKSKTDARS

• Structural information:
  • Protein Domains: (51..11-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR004827  IPR004826  IPR028551  IPR008917  IPR024874  
  • Prosite: PS50217
  • STRING: ENSP00000350369
• Other Databases: GeneCards:  MAFG  Malacards:  MAFG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045604	regulation of epidermal cell differentiation	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
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: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: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:0001701	in utero embryonic development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0030534	adult behavior	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030641	regulation of cellular pH	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0045604	regulation of epidermal cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881