Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4094
Gene name	MAF bZIP transcription factor
Gene symbol	MAF
Synonyms (NCBI Gene)	AYGRPCCA4CTRCT21c-MAF
Chromosome	16
Chromosome location	16q23.2
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003208	kshv-miR-K12-1-5p	Luciferase reporter assayqRT-PCR	20080955
MIRT003208	kshv-miR-K12-1-5p	Luciferase reporter assayqRT-PCR	20080955
MIRT003207	kshv-miR-K12-11-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003207	kshv-miR-K12-11-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003206	kshv-miR-K12-6-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003206	kshv-miR-K12-6-3p	Luciferase reporter assayqRT-PCR	20080955
MIRT003205	kshv-miR-K12-6-5p	qRT-PCR	20080955
MIRT556368	hsa-miR-451b	PAR-CLIP	21572407
MIRT556367	hsa-miR-4802-5p	PAR-CLIP	21572407
MIRT556366	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT556365	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT556364	hsa-miR-10b-3p	PAR-CLIP	21572407
MIRT285209	hsa-miR-621	PAR-CLIP	21572407
MIRT556363	hsa-miR-4434	PAR-CLIP	21572407
MIRT556362	hsa-miR-4516	PAR-CLIP	21572407
MIRT556361	hsa-miR-5703	PAR-CLIP	21572407
MIRT556359	hsa-miR-5100	PAR-CLIP	21572407
MIRT556360	hsa-miR-4531	PAR-CLIP	21572407
MIRT556358	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT497281	hsa-miR-618	PAR-CLIP	22291592
MIRT497280	hsa-miR-499a-3p	PAR-CLIP	22291592
MIRT497279	hsa-miR-499b-3p	PAR-CLIP	22291592
MIRT497278	hsa-miR-4640-3p	PAR-CLIP	22291592
MIRT497277	hsa-miR-3143	PAR-CLIP	22291592
MIRT497276	hsa-miR-6798-3p	PAR-CLIP	22291592
MIRT497275	hsa-miR-302c-5p	PAR-CLIP	22291592
MIRT736222	hsa-miR-29b-2-5p	RNA-seqqRT-PCR	33808771
MIRT556368	hsa-miR-451b	PAR-CLIP	21572407
MIRT556367	hsa-miR-4802-5p	PAR-CLIP	21572407
MIRT556366	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT556365	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT556364	hsa-miR-10b-3p	PAR-CLIP	21572407
MIRT285209	hsa-miR-621	PAR-CLIP	21572407
MIRT556363	hsa-miR-4434	PAR-CLIP	21572407
MIRT556362	hsa-miR-4516	PAR-CLIP	21572407
MIRT556361	hsa-miR-5703	PAR-CLIP	21572407
MIRT556359	hsa-miR-5100	PAR-CLIP	21572407
MIRT556360	hsa-miR-4531	PAR-CLIP	21572407
MIRT556358	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT497281	hsa-miR-618	PAR-CLIP	22291592
MIRT497280	hsa-miR-499a-3p	PAR-CLIP	22291592
MIRT497279	hsa-miR-499b-3p	PAR-CLIP	22291592
MIRT497278	hsa-miR-4640-3p	PAR-CLIP	22291592
MIRT497277	hsa-miR-3143	PAR-CLIP	22291592
MIRT497276	hsa-miR-6798-3p	PAR-CLIP	22291592
MIRT497275	hsa-miR-302c-5p	PAR-CLIP	22291592
MIRT1125223	hsa-miR-1207-5p	CLIP-seq
MIRT1125224	hsa-miR-1208	CLIP-seq
MIRT1125225	hsa-miR-1273f	CLIP-seq
MIRT1125226	hsa-miR-1303	CLIP-seq
MIRT1125227	hsa-miR-147	CLIP-seq
MIRT1125228	hsa-miR-183	CLIP-seq
MIRT1125229	hsa-miR-2052	CLIP-seq
MIRT1125230	hsa-miR-2054	CLIP-seq
MIRT1125231	hsa-miR-210	CLIP-seq
MIRT1125232	hsa-miR-216a	CLIP-seq
MIRT1125233	hsa-miR-23a	CLIP-seq
MIRT1125234	hsa-miR-23b	CLIP-seq
MIRT1125235	hsa-miR-23c	CLIP-seq
MIRT1125236	hsa-miR-3185	CLIP-seq
MIRT1125237	hsa-miR-342-3p	CLIP-seq
MIRT1125238	hsa-miR-3664-3p	CLIP-seq
MIRT1125239	hsa-miR-3685	CLIP-seq
MIRT1125240	hsa-miR-384	CLIP-seq
MIRT1125241	hsa-miR-3917	CLIP-seq
MIRT1125242	hsa-miR-3923	CLIP-seq
MIRT1125243	hsa-miR-4282	CLIP-seq
MIRT1125244	hsa-miR-4433	CLIP-seq
MIRT1125245	hsa-miR-4436b-5p	CLIP-seq
MIRT1125246	hsa-miR-4459	CLIP-seq
MIRT1125247	hsa-miR-4511	CLIP-seq
MIRT1125248	hsa-miR-452	CLIP-seq
MIRT1125249	hsa-miR-4659a-3p	CLIP-seq
MIRT1125250	hsa-miR-4659b-3p	CLIP-seq
MIRT1125251	hsa-miR-4676-3p	CLIP-seq
MIRT1125252	hsa-miR-4680-5p	CLIP-seq
MIRT1125253	hsa-miR-4717-3p	CLIP-seq
MIRT1125254	hsa-miR-4736	CLIP-seq
MIRT1125255	hsa-miR-4763-3p	CLIP-seq
MIRT1125256	hsa-miR-4768-3p	CLIP-seq
MIRT1125257	hsa-miR-4778-3p	CLIP-seq
MIRT1125258	hsa-miR-510	CLIP-seq
MIRT1125259	hsa-miR-513a-3p	CLIP-seq
MIRT1125260	hsa-miR-548a-3p	CLIP-seq
MIRT1125261	hsa-miR-548e	CLIP-seq
MIRT1125262	hsa-miR-548f	CLIP-seq
MIRT1125263	hsa-miR-644	CLIP-seq
MIRT1125264	hsa-miR-657	CLIP-seq
MIRT1125265	hsa-miR-3124-3p	CLIP-seq
MIRT1125239	hsa-miR-3685	CLIP-seq
MIRT1125240	hsa-miR-384	CLIP-seq
MIRT1125266	hsa-miR-3924	CLIP-seq
MIRT1125267	hsa-miR-4315	CLIP-seq
MIRT1125268	hsa-miR-448	CLIP-seq
MIRT1125269	hsa-miR-4528	CLIP-seq
MIRT1125270	hsa-miR-586	CLIP-seq
MIRT1125271	hsa-miR-885-5p	CLIP-seq
MIRT1125233	hsa-miR-23a	CLIP-seq
MIRT1125234	hsa-miR-23b	CLIP-seq
MIRT1125235	hsa-miR-23c	CLIP-seq
MIRT1125236	hsa-miR-3185	CLIP-seq
MIRT2035349	hsa-miR-3662	CLIP-seq
MIRT1125238	hsa-miR-3664-3p	CLIP-seq
MIRT2035350	hsa-miR-499-3p	CLIP-seq
MIRT2035351	hsa-miR-656	CLIP-seq
MIRT2265836	hsa-miR-1305	CLIP-seq
MIRT2265837	hsa-miR-145	CLIP-seq
MIRT2265838	hsa-miR-330-3p	CLIP-seq
MIRT2265839	hsa-miR-3591-5p	CLIP-seq
MIRT2265840	hsa-miR-3691-5p	CLIP-seq
MIRT2265841	hsa-miR-4277	CLIP-seq
MIRT2265842	hsa-miR-4428	CLIP-seq
MIRT1125244	hsa-miR-4433	CLIP-seq
MIRT2265843	hsa-miR-4668-3p	CLIP-seq
MIRT2265844	hsa-miR-4752	CLIP-seq
MIRT2035350	hsa-miR-499-3p	CLIP-seq
MIRT2265845	hsa-miR-659	CLIP-seq
MIRT2265846	hsa-miR-9	CLIP-seq
MIRT2453600	hsa-miR-129-5p	CLIP-seq
MIRT2453601	hsa-miR-3140-3p	CLIP-seq
MIRT2453602	hsa-miR-4314	CLIP-seq
MIRT2453603	hsa-miR-4450	CLIP-seq
MIRT2453604	hsa-miR-4667-5p	CLIP-seq
MIRT2453605	hsa-miR-4700-5p	CLIP-seq
MIRT2453606	hsa-miR-4795-3p	CLIP-seq
MIRT2453607	hsa-miR-637	CLIP-seq

Show/Hide all (38)

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20102225, 23661758
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9616139
GO:0007584	Process	Response to nutrient	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030219	Process	Megakaryocyte differentiation	IMP	25857263
GO:0032330	Process	Regulation of chondrocyte differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	20102225, 23661758
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048468	Process	Cell development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0070306	Process	Lens fiber cell differentiation	IBA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	20102225, 23661758
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0140467	Process	Integrated stress response signaling	NAS	28566324
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
177075	6776	ENSG00000178573

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
YAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENG
SSSDNPSSPEFFM

Sequence length

373

Interactions

View interactions

	KEGG
	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease

199

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ayme-Gripp syndrome	Likely pathogenic; Pathogenic	rs727502771, rs786205221, rs727502768, rs727502770, rs727502769, rs727502767, rs727502766, rs1481963503, rs1555530022, rs1597847611, rs1913781557	RCV001775246 RCV001904986 RCV000149908 RCV000149907 RCV000149906 RCV000149905 RCV000149904 RCV000149903 RCV000149902 RCV000533204 RCV000652087 RCV000822360 RCV001224384
Cataract 21 multiple types	Likely pathogenic; Pathogenic	rs727502771, rs786205221, rs786205222, rs2143800981, rs2143816916, rs121917735, rs121917736, rs1481963503, rs1555530022, rs1597847611, rs1913779276, rs1913781557	RCV002541042 RCV001904986 RCV000170458 RCV000170459 RCV003487066 RCV004765817 RCV000014136 RCV000014137 RCV000533204 RCV000652087 RCV000822360 RCV001199226 RCV001224384
Developmental cataract	Likely pathogenic	rs864309692, rs864309695, rs864309678, rs1057518878	RCV000203395 RCV000203408 RCV000203389 RCV000415117
MAF-related disorder	Pathogenic; Likely pathogenic	rs727502766, rs2507655460	RCV004754316 RCV003402816

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Cerebral Infarction	Associate	36802116
Cognition Disorders	Associate	40139278
Colitis Ulcerative	Stimulate	23695510
Coloboma	Associate	12642301
COVID 19	Associate	33312178
Craniosynostoses	Associate	25865493
Cytomegalovirus Infections	Stimulate	37203095
Deafness	Associate	25865493
Dementia	Associate	34852950
Down Syndrome	Associate	25865493
Endometriosis	Associate	28300844
Eye Abnormalities	Associate	25865493
Familial Primary Pulmonary Hypertension	Associate	36899621
Fibrocystic Breast Disease	Associate	25865493
Gastrointestinal Stromal Tumors	Associate	21192842
Hashimoto Disease	Associate	32595646
Hearing Loss Sensorineural	Associate	25865493
Hodgkin Disease	Associate	17158640
Hypertrophy	Associate	19215682
Infections	Associate	21244576
Inflammation	Associate	33312178, 35280993
Influenza Human	Associate	25865493, 34217267
Intellectual Disability	Associate	25865493
Iridogoniodysgenesis and skeletal anomalies	Associate	25865493
Iris Diseases	Associate	12642301
Leiomyosarcoma	Associate	21192842
Leukemia Hairy Cell	Associate	19687312
Leukemia Lymphocytic Chronic B Cell	Associate	19687312
limbic predominant age related TDP 43 encephalopathy	Associate	34852950
Lymphoma	Associate	19687312
Lymphoma Extranodal NK T Cell	Associate	19687312
Lymphoma T Cell	Stimulate	28944848
Multiple Myeloma	Associate	11418483, 14531906, 16728703, 17550853, 17914559, 19013005, 19446321, 19687312, 21163924, 21173094, 22689675, 24638926, 26728187, 27793878, 28933784 View all (8 more)
Multiple Sclerosis	Associate	35383094
Multiple System Atrophy	Associate	25865493
Neoplasm Metastasis	Associate	34272498
Neoplasms	Associate	18381641, 21668942, 23741392, 32175921, 34377934, 37224458
Neoplasms	Inhibit	26694163
Nephrosis Lipoid	Associate	14688382, 28944848
Neurodevelopmental Disorders	Associate	25865493
Obesity	Associate	23840443
Osteoarthritis	Associate	19215682
Polycystic Ovary Syndrome	Associate	37967238
Primary Myelofibrosis	Associate	28745329
Seizures	Associate	25865493
Soft Tissue Neoplasms	Associate	29463311
Spherocytosis Type 1	Associate	34852950
Squamous Cell Carcinoma of Head and Neck	Associate	26694163, 34356658
Uveal Diseases	Associate	12642301
Uveal melanoma	Associate	12642301
Weight Gain	Associate	23840443

MAF (MAF bZIP transcription factor)