Gene Gene information from NCBI Gene database.
Entrez ID 4097
Gene name MAF bZIP transcription factor G
Gene symbol MAFG
Synonyms (NCBI Gene)
hMAF
Chromosome 17
Chromosome location 17q25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
602
miRTarBase ID miRNA Experiments Reference
MIRT003711 hsa-miR-218-5p qRT-PCR 19168627
MIRT003711 hsa-miR-218-5p MicroarrayqRT-PCR 19168627
MIRT029000 hsa-miR-26b-5p Microarray 19088304
MIRT049582 hsa-miR-92a-3p CLASH 23622248
MIRT048503 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 27052415, 33897412
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602020 6781 ENSG00000197063
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15525
Protein name Transcription factor MafG (V-maf musculoaponeurotic fibrosarcoma oncogene homolog G) (hMAF)
Protein function Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:11154691). However, they seem to serve as transcriptional activators by dimerizing with other (usu
PDB 7X5E , 7X5F , 7X5G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03131 bZIP_Maf 24 115 bZIP Maf transcription factor Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle. Also expressed in heart and brain.
Sequence
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLK
NRGYAASCRVKRVTQKEELEKQKAELQQEVEKLASENASMKLELDALRSKYEALQ
TFART
VARSPVAPARGPLAAGLGPLVPGKVAATSVITIVKSKTDARS
Sequence length 162
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLESTASIS, INTRAHEPATIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31211984
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37152370 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 20689807
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 29733835
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis BEFREE 27981602, 29733835
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 25219500, 25367952
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26787892 Associate
★☆☆☆☆
Found in Text Mining only
Familial Primary Pulmonary Hypertension Pulmonary hypertension Pubtator 36899621 Associate
★☆☆☆☆
Found in Text Mining only
Intrahepatic Cholestasis Intrahepatic Cholestasis CTD_human_DG 20146260
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Liver carcinoma Liver carcinoma BEFREE 29733835
★☆☆☆☆
Found in Text Mining only