|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:c-Maf
gptkb:v-maf_avian_musculoaponeurotic_fibrosarcoma_oncogene_homolog
|
|
gptkbp:associatedWith
|
gptkb:congenital_cataract
gptkb:Ayme-Gripp_syndrome
multiple myeloma
intellectual disability
sensorineural hearing loss
skeletal anomalies
autosomal dominant inheritance
ocular anomalies
Duane retraction syndrome
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Nishizawa et al.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:DNA_binding_domain
|
gptkb:bZIP_domain
|
|
gptkbp:encodes
|
transcription factor Maf
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000178573
4099
|
|
gptkbp:expressedIn
|
lens
immune cells
|
|
gptkbp:function
|
cell differentiation
regulation of gene expression
lens development in camera-type eye
|
|
gptkbp:gene
|
MAF
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
MAFA
MAFG
MAFK
MAFB
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
MAF
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MAF gene
|
|
gptkbp:length
|
373 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:16q23.2
|
|
gptkbp:molecularWeight
|
43 kDa
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
cataract formation
|
|
gptkbp:OMIM
|
177075
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Maf
|
|
gptkbp:proteinFamily
|
bZIP transcription factor
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
Th2 cell differentiation
IL-4 expression
crystallin gene expression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:transcriptionFactorClass
|
large Maf family
|
|
gptkbp:UniProtID
|
gptkb:O75444
|
|
gptkbp:bfsParent
|
gptkb:c-Maf
gptkb:Myeloid-associated_factor_protein
gptkb:IGH_locus
|
|
gptkbp:bfsLayer
|
8
|