Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4094
Gene name Gene Name - the full gene name approved by the HGNC.
MAF bZIP transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAF
Synonyms (NCBI Gene) Gene synonyms aliases
AYGRP, CCA4, CTRCT21, c-MAF
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003208 kshv-miR-K12-1-5p Luciferase reporter assay, qRT-PCR 20080955
MIRT003208 kshv-miR-K12-1-5p Luciferase reporter assay, qRT-PCR 20080955
MIRT003207 kshv-miR-K12-11-3p Luciferase reporter assay, qRT-PCR 20080955
MIRT003207 kshv-miR-K12-11-3p Luciferase reporter assay, qRT-PCR 20080955
MIRT003206 kshv-miR-K12-6-3p Luciferase reporter assay, qRT-PCR 20080955
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 27052415, 33897412
GO:0000785 Component Chromatin ISA
GO:0000785 Component Chromatin TAS 9616139
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
177075 6776 ENSG00000178573
Protein
UniProt ID O75444
Protein name Transcription factor Maf (Proto-oncogene c-Maf) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog)
Protein function Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08383 Maf_N 86 119 Maf N-terminal region Family
PF03131 bZIP_Maf 261 352 bZIP Maf transcription factor Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cells. {ECO:0000269|PubMed:17897790}.
Sequence
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPM
STPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISN
SHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPH
YHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRG
YAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLV
SSGFRENG
SSSDNPSSPEFFM
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Th1 and Th2 cell differentiation
Transcriptional misregulation in cancer
Inflammatory bowel disease
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
ayme-gripp syndrome Ayme-Gripp syndrome rs727502768, rs727502771, rs727502770, rs727502769, rs727502767, rs727502766 N/A
Cataract Developmental cataract, Cataract 21 multiple types rs864309678, rs1057518878, rs1481963503, rs786205221, rs786205222, rs864309692, rs121917735, rs864309695, rs121917736 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dental caries Dental caries N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37280312
Alzheimer Disease Associate 34852950, 40139278
Arteriolosclerosis Associate 34852950
Asthma Associate 30087444
Breast Neoplasms Associate 34272498
Carcinoma Non Small Cell Lung Associate 32175921
Carcinoma Renal Cell Associate 37224458
Cartilage Diseases Stimulate 19215682
Cataract Associate 12642301, 25865493, 29914532, 37203095, 38180241
Cataract microcornea syndrome Associate 12642301