• Gene id: 4094

Gene Summary

• Gene Symbol: MAF   Gene   UCSC   Ensembl
• Aliases: AYGRP, CCA4, CTRCT21, c-MAF
• Gene name: MAF bZIP transcription factor
• Alternate names: transcription factor Maf, Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene, T lymphocyte c-maf long form, c-maf proto-oncogene, proto-oncogene c-Maf, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog,
• Gene location: 16q23.2 (79601951: 79202623)     Exons: 7     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or re
• OMIM: 177075

SNPs

rs12920268

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

NC_000016.10   g.79433215G>A
NC_000016.9   g.79467112G>A|SEQ=[G/A]|GENE=MAF

Protein Summary

• Protein general information: O75444  
  • Name: Transcription factor Maf (Proto oncogene c Maf) (V maf musculoaponeurotic fibrosarcoma oncogene homolog)
  • Length: 373  
  • Mass: 38492
  • Tissue specificity: Expressed in endothelial cells. {ECO
• Sequence:

  MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSA
  PSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASL
  GGSGEEMGPAAAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAG
  GGGGGGGGGGGGGAAGAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRG
  YAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM

• Structural information:
  • Protein Domains: (288..35-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR004827  IPR004826  IPR028573  IPR013592  IPR008917   IPR024874  
  • Prosite: PS50217
  • STRING: ENSP00000327048
• Other Databases: GeneCards:  MAF  Malacards:  MAF

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:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0070306	lens fiber 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: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:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000785	chromatin	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	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:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001816	cytokine production	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Multiple myeloma	KEGG:H00010
Cataract	KEGG:H01202
Multiple myeloma	KEGG:H00010
Cataract	PMID:11772997
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
19478329	Azoospermia, Oligozoospermia	rs12920268	Caucasi an	54 cases	Male infertility	GWAS