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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9935
Gene name	MAF bZIP transcription factor B
Gene symbol	MAFB
Synonyms (NCBI Gene)	DURS3KRMLMCTO
Chromosome	20
Chromosome location	20q12
Summary	The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specifi

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907004	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs387907005	A>C	Pathogenic	Coding sequence variant, missense variant
rs387907006	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907007	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907008	G>A	Pathogenic	Coding sequence variant, missense variant
rs730880014	G>A	Pathogenic	Coding sequence variant, missense variant
rs879255275	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs879255276	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs879255277	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555826433	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555826446	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600429244	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1600429262	G>A	Pathogenic	Coding sequence variant, missense variant
rs1600429281	G>C	Likely-pathogenic	Coding sequence variant, missense variant

285

Show/Hide all (285)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001141	hsa-miR-130a-3p	Luciferase reporter assay	16549775
MIRT004507	hsa-miR-155-5p	Microarray	19193853
MIRT005442	hsa-miR-135b-5p	Luciferase reporter assayMicroarrayqRT-PCR	20981674
MIRT016975	hsa-miR-335-5p	Microarray	18185580
MIRT001141	hsa-miR-130a-3p	Reporter assay	16549775
MIRT004507	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	22797699
MIRT004507	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	22797699
MIRT437409	hsa-miR-148a-3p	Luciferase reporter assay	23225151
MIRT437409	hsa-miR-148a-3p	Luciferase reporter assay	23225151
MIRT438426	hsa-miR-425-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23174883
MIRT438425	hsa-miR-152-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23174883
MIRT438424	hsa-miR-24-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23174883
MIRT438003	hsa-miR-199a-5p	Luciferase reporter assayWestern blot	24391856
MIRT438426	hsa-miR-425-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23174883
MIRT438425	hsa-miR-152-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23174883
MIRT438424	hsa-miR-24-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23174883
MIRT438003	hsa-miR-199a-5p	Luciferase reporter assayWestern blot	24391856
MIRT1125284	hsa-miR-1284	CLIP-seq
MIRT1125285	hsa-miR-1302	CLIP-seq
MIRT1125286	hsa-miR-130a	CLIP-seq
MIRT1125287	hsa-miR-130b	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT1125291	hsa-miR-181a	CLIP-seq
MIRT1125292	hsa-miR-181b	CLIP-seq
MIRT1125293	hsa-miR-181c	CLIP-seq
MIRT1125294	hsa-miR-181d	CLIP-seq
MIRT1125295	hsa-miR-223	CLIP-seq
MIRT1125296	hsa-miR-2276	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT1125300	hsa-miR-300	CLIP-seq
MIRT1125301	hsa-miR-301a	CLIP-seq
MIRT1125302	hsa-miR-301b	CLIP-seq
MIRT1125303	hsa-miR-3185	CLIP-seq
MIRT1125304	hsa-miR-3666	CLIP-seq
MIRT1125305	hsa-miR-381	CLIP-seq
MIRT1125306	hsa-miR-3922-5p	CLIP-seq
MIRT1125307	hsa-miR-3940-5p	CLIP-seq
MIRT1125308	hsa-miR-4262	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125310	hsa-miR-4274	CLIP-seq
MIRT1125311	hsa-miR-4276	CLIP-seq
MIRT1125312	hsa-miR-4295	CLIP-seq
MIRT1125313	hsa-miR-4298	CLIP-seq
MIRT1125314	hsa-miR-4303	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT1125316	hsa-miR-4490	CLIP-seq
MIRT1125317	hsa-miR-4507	CLIP-seq
MIRT1125318	hsa-miR-4519	CLIP-seq
MIRT1125319	hsa-miR-454	CLIP-seq
MIRT1125320	hsa-miR-4648	CLIP-seq
MIRT1125321	hsa-miR-4666-3p	CLIP-seq
MIRT1125322	hsa-miR-4697-3p	CLIP-seq
MIRT1125323	hsa-miR-4774-5p	CLIP-seq
MIRT1125324	hsa-miR-500a	CLIP-seq
MIRT1125325	hsa-miR-501-5p	CLIP-seq
MIRT1125326	hsa-miR-548a-3p	CLIP-seq
MIRT1125327	hsa-miR-548e	CLIP-seq
MIRT1125328	hsa-miR-548f	CLIP-seq
MIRT1125329	hsa-miR-605	CLIP-seq
MIRT1125330	hsa-miR-606	CLIP-seq
MIRT1125331	hsa-miR-629	CLIP-seq
MIRT1125332	hsa-miR-659	CLIP-seq
MIRT1125333	hsa-miR-720	CLIP-seq
MIRT1125334	hsa-miR-767-5p	CLIP-seq
MIRT1125335	hsa-miR-891b	CLIP-seq
MIRT1125296	hsa-miR-2276	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT1125321	hsa-miR-4666-3p	CLIP-seq
MIRT1551019	hsa-miR-485-3p	CLIP-seq
MIRT1125326	hsa-miR-548a-3p	CLIP-seq
MIRT1125327	hsa-miR-548e	CLIP-seq
MIRT1125328	hsa-miR-548f	CLIP-seq
MIRT1125334	hsa-miR-767-5p	CLIP-seq
MIRT2035352	hsa-miR-1181	CLIP-seq
MIRT2035353	hsa-miR-1229	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT2035356	hsa-miR-3065-3p	CLIP-seq
MIRT2035357	hsa-miR-3124-3p	CLIP-seq
MIRT2035358	hsa-miR-3180	CLIP-seq
MIRT2035359	hsa-miR-3180-3p	CLIP-seq
MIRT2035360	hsa-miR-3196	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2035363	hsa-miR-624	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2035365	hsa-miR-744	CLIP-seq
MIRT2265847	hsa-miR-105	CLIP-seq
MIRT2265848	hsa-miR-1207-3p	CLIP-seq
MIRT2265849	hsa-miR-1292	CLIP-seq
MIRT1125286	hsa-miR-130a	CLIP-seq
MIRT1125287	hsa-miR-130b	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT1125295	hsa-miR-223	CLIP-seq
MIRT1125296	hsa-miR-2276	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT1125301	hsa-miR-301a	CLIP-seq
MIRT1125302	hsa-miR-301b	CLIP-seq
MIRT2035358	hsa-miR-3180	CLIP-seq
MIRT2035359	hsa-miR-3180-3p	CLIP-seq
MIRT2035360	hsa-miR-3196	CLIP-seq
MIRT1125304	hsa-miR-3666	CLIP-seq
MIRT2265850	hsa-miR-410	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125312	hsa-miR-4295	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT2265851	hsa-miR-4471	CLIP-seq
MIRT2265852	hsa-miR-4502	CLIP-seq
MIRT1125319	hsa-miR-454	CLIP-seq
MIRT1125321	hsa-miR-4666-3p	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2265853	hsa-miR-4690-5p	CLIP-seq
MIRT1125322	hsa-miR-4697-3p	CLIP-seq
MIRT2265854	hsa-miR-4699-3p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2265855	hsa-miR-4742-5p	CLIP-seq
MIRT2265856	hsa-miR-4755-3p	CLIP-seq
MIRT1551019	hsa-miR-485-3p	CLIP-seq
MIRT1125326	hsa-miR-548a-3p	CLIP-seq
MIRT2265857	hsa-miR-548c-3p	CLIP-seq
MIRT1125327	hsa-miR-548e	CLIP-seq
MIRT1125328	hsa-miR-548f	CLIP-seq
MIRT2265858	hsa-miR-640	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2035365	hsa-miR-744	CLIP-seq
MIRT1125334	hsa-miR-767-5p	CLIP-seq
MIRT1125335	hsa-miR-891b	CLIP-seq
MIRT1125288	hsa-miR-148a	CLIP-seq
MIRT1125289	hsa-miR-148b	CLIP-seq
MIRT1125290	hsa-miR-152	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2465603	hsa-miR-324-5p	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2265847	hsa-miR-105	CLIP-seq
MIRT2035353	hsa-miR-1229	CLIP-seq
MIRT2565184	hsa-miR-1236	CLIP-seq
MIRT2565185	hsa-miR-1237	CLIP-seq
MIRT2565186	hsa-miR-1238	CLIP-seq
MIRT2565187	hsa-miR-1248	CLIP-seq
MIRT2565188	hsa-miR-1252	CLIP-seq
MIRT2565189	hsa-miR-1266	CLIP-seq
MIRT2565190	hsa-miR-1281	CLIP-seq
MIRT2265849	hsa-miR-1292	CLIP-seq
MIRT2565191	hsa-miR-1343	CLIP-seq
MIRT2565192	hsa-miR-188-5p	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2565193	hsa-miR-2114	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT2035356	hsa-miR-3065-3p	CLIP-seq
MIRT2565194	hsa-miR-3065-5p	CLIP-seq
MIRT2035357	hsa-miR-3124-3p	CLIP-seq
MIRT2565195	hsa-miR-3125	CLIP-seq
MIRT2565196	hsa-miR-3148	CLIP-seq
MIRT2565197	hsa-miR-3154	CLIP-seq
MIRT2035358	hsa-miR-3180	CLIP-seq
MIRT2035359	hsa-miR-3180-3p	CLIP-seq
MIRT2035360	hsa-miR-3196	CLIP-seq
MIRT2465603	hsa-miR-324-5p	CLIP-seq
MIRT2565198	hsa-miR-3613-3p	CLIP-seq
MIRT2565199	hsa-miR-3615	CLIP-seq
MIRT2565200	hsa-miR-3649	CLIP-seq
MIRT2565201	hsa-miR-3667-3p	CLIP-seq
MIRT2565202	hsa-miR-3671	CLIP-seq
MIRT2565203	hsa-miR-371b-5p	CLIP-seq
MIRT2565204	hsa-miR-374c	CLIP-seq
MIRT2565205	hsa-miR-3916	CLIP-seq
MIRT2565206	hsa-miR-4450	CLIP-seq
MIRT2265851	hsa-miR-4471	CLIP-seq
MIRT2565207	hsa-miR-4475	CLIP-seq
MIRT2565208	hsa-miR-4518	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2565209	hsa-miR-4533	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2565210	hsa-miR-4747-5p	CLIP-seq
MIRT2565211	hsa-miR-4751	CLIP-seq
MIRT2565212	hsa-miR-4763-5p	CLIP-seq
MIRT2565213	hsa-miR-4768-5p	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2565214	hsa-miR-518a-3p	CLIP-seq
MIRT2565215	hsa-miR-518b	CLIP-seq
MIRT2565216	hsa-miR-518c	CLIP-seq
MIRT2565217	hsa-miR-518d-3p	CLIP-seq
MIRT2565218	hsa-miR-518f	CLIP-seq
MIRT2565219	hsa-miR-522	CLIP-seq
MIRT2265857	hsa-miR-548c-3p	CLIP-seq
MIRT2565220	hsa-miR-561	CLIP-seq
MIRT2565221	hsa-miR-570	CLIP-seq
MIRT2565222	hsa-miR-583	CLIP-seq
MIRT2565223	hsa-miR-607	CLIP-seq
MIRT2035363	hsa-miR-624	CLIP-seq
MIRT2265858	hsa-miR-640	CLIP-seq
MIRT2565224	hsa-miR-642a	CLIP-seq
MIRT2565225	hsa-miR-655	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2035365	hsa-miR-744	CLIP-seq
MIRT2565226	hsa-miR-888	CLIP-seq
MIRT1125335	hsa-miR-891b	CLIP-seq
MIRT2265847	hsa-miR-105	CLIP-seq
MIRT2035353	hsa-miR-1229	CLIP-seq
MIRT2565185	hsa-miR-1237	CLIP-seq
MIRT2565187	hsa-miR-1248	CLIP-seq
MIRT2565188	hsa-miR-1252	CLIP-seq
MIRT2565190	hsa-miR-1281	CLIP-seq
MIRT2265849	hsa-miR-1292	CLIP-seq
MIRT2565192	hsa-miR-188-5p	CLIP-seq
MIRT2035354	hsa-miR-1908	CLIP-seq
MIRT2565193	hsa-miR-2114	CLIP-seq
MIRT2035355	hsa-miR-2117	CLIP-seq
MIRT2684400	hsa-miR-28-5p	CLIP-seq
MIRT1125297	hsa-miR-29a	CLIP-seq
MIRT1125298	hsa-miR-29b	CLIP-seq
MIRT1125299	hsa-miR-29c	CLIP-seq
MIRT2035356	hsa-miR-3065-3p	CLIP-seq
MIRT2565194	hsa-miR-3065-5p	CLIP-seq
MIRT2565195	hsa-miR-3125	CLIP-seq
MIRT2684401	hsa-miR-3139	CLIP-seq
MIRT2565196	hsa-miR-3148	CLIP-seq
MIRT2465603	hsa-miR-324-5p	CLIP-seq
MIRT2565198	hsa-miR-3613-3p	CLIP-seq
MIRT2565199	hsa-miR-3615	CLIP-seq
MIRT2684402	hsa-miR-3620	CLIP-seq
MIRT2565200	hsa-miR-3649	CLIP-seq
MIRT2565201	hsa-miR-3667-3p	CLIP-seq
MIRT2565202	hsa-miR-3671	CLIP-seq
MIRT2565203	hsa-miR-371b-5p	CLIP-seq
MIRT2565204	hsa-miR-374c	CLIP-seq
MIRT2565205	hsa-miR-3916	CLIP-seq
MIRT1125309	hsa-miR-4270	CLIP-seq
MIRT1125315	hsa-miR-4441	CLIP-seq
MIRT2565206	hsa-miR-4450	CLIP-seq
MIRT2265851	hsa-miR-4471	CLIP-seq
MIRT2684403	hsa-miR-4474-3p	CLIP-seq
MIRT2565207	hsa-miR-4475	CLIP-seq
MIRT2430945	hsa-miR-4530	CLIP-seq
MIRT2565209	hsa-miR-4533	CLIP-seq
MIRT2035361	hsa-miR-4684-5p	CLIP-seq
MIRT2035362	hsa-miR-4730	CLIP-seq
MIRT2565210	hsa-miR-4747-5p	CLIP-seq
MIRT2565211	hsa-miR-4751	CLIP-seq
MIRT2265856	hsa-miR-4755-3p	CLIP-seq
MIRT2565212	hsa-miR-4763-5p	CLIP-seq
MIRT2565213	hsa-miR-4768-5p	CLIP-seq
MIRT2430946	hsa-miR-503	CLIP-seq
MIRT2565214	hsa-miR-518a-3p	CLIP-seq
MIRT2565215	hsa-miR-518b	CLIP-seq
MIRT2565216	hsa-miR-518c	CLIP-seq
MIRT2565217	hsa-miR-518d-3p	CLIP-seq
MIRT2565218	hsa-miR-518f	CLIP-seq
MIRT2265857	hsa-miR-548c-3p	CLIP-seq
MIRT2565220	hsa-miR-561	CLIP-seq
MIRT2565221	hsa-miR-570	CLIP-seq
MIRT2565222	hsa-miR-583	CLIP-seq
MIRT2565223	hsa-miR-607	CLIP-seq
MIRT2035363	hsa-miR-624	CLIP-seq
MIRT2265858	hsa-miR-640	CLIP-seq
MIRT2565225	hsa-miR-655	CLIP-seq
MIRT2035364	hsa-miR-663	CLIP-seq
MIRT2684404	hsa-miR-708	CLIP-seq
MIRT2565226	hsa-miR-888	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	27052415, 33897412
GO:0000785	Component	Chromatin	ISA
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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
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:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	20102225, 20581830, 23661758, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	27208706
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758
GO:0005634	Component	Nucleus	TAS	8001130
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	27181683
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0007379	Process	Segment specification	IEA
GO:0007423	Process	Sensory organ development	TAS	8001130
GO:0007584	Process	Response to nutrient	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016485	Process	Protein processing	IEA
GO:0021571	Process	Rhombomere 5 development	IEA
GO:0021572	Process	Rhombomere 6 development	IEA
GO:0021599	Process	Abducens nerve formation	IEA
GO:0021599	Process	Abducens nerve formation	ISS
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0035284	Process	Brain segmentation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20102225, 20211142, 23661758
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045637	Process	Regulation of myeloid cell differentiation	IBA
GO:0045647	Process	Negative regulation of erythrocyte differentiation	IDA	8620536
GO:0045671	Process	Negative regulation of osteoclast differentiation	IEA
GO:0045671	Process	Negative regulation of osteoclast differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048538	Process	Thymus development	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	23661758
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0140467	Process	Integrated stress response signaling	NAS	28566324
GO:1903575	Process	Cornified envelope assembly	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
608968	6408	ENSG00000204103

Q9Y5Q3

Protein name

Transcription factor MafB (Maf-B) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog B)

Protein function

Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08383	Maf_N	80 → 113	Maf N-terminal region	Family
PF03131	bZIP_Maf	211 → 302	bZIP Maf transcription factor	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10444328}.

Sequence

MAAELSMGPELPTSPLAMEYVNDFDLLKFDVKKEPLGRAERPGRPCTRLQPAGSVSSTPL
STPCSSVPSSPSFSPTEQKTHLEDLYWMASNYQQMNPEALNLTPEDAVEALIGSHPVPQP
LQSFDSFRGAHHHHHHHHPHPHHAYPGAGVAHDELGPHAHPHHHHHHQASPPPSSAASPA
QQLPTSHPGPGPHATASATAAGGNGSVEDRFSDDQLVSMSVRELNRHLRGFTKDEVIRLK
QKRRTLKNRGYAQSCRYKRVQQKHHLENEKTQLIQQVEQLKQEVSRLARERDAYKVKCEK
LANSGFREAGSTSDSPSSPEFFL

Sequence length

323

Interactions

View interactions

	KEGG
	Parathyroid hormone synthesis, secretion and action

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carpal osteolysis	Likely pathogenic	rs1600429281	RCV000845260	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duane retraction syndrome 2	Pathogenic	rs879255275, rs879255277, rs879255276	RCV000240679 RCV000240779 RCV000240729	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duane retraction syndrome 3 with or without deafness	Pathogenic	rs879255275, rs879255277, rs879255276	RCV000235061 RCV002051693 RCV002051692	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duane syndrome type 1	Pathogenic	rs879255275, rs879255277, rs879255276	RCV000240679 RCV000240779 RCV000240729	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAFB-related disorder	Pathogenic; Likely pathogenic	rs2515463632, rs561320614	RCV003418744 RCV003402125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multicentric carpo-tarsal osteolysis with or without nephropathy	Likely pathogenic; Pathogenic	rs2515463612, rs2515463659, rs387907004, rs387907005, rs387907006, rs387907007, rs387907008, rs730880014, rs1600429281, rs1600429262, rs1600429244	RCV003227584 RCV004566434 RCV000023747 RCV000023748 RCV000023749 RCV000023750 RCV000023751 RCV000023752 RCV002290978 RCV000990302 RCV000995802 RCV001004935	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofacial cleft 1	Likely pathogenic	rs745460952	RCV003321463	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brown syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BROWN TENDON SHEATH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUANE RETRACTION SYNDROME	—	CTD, ClinVar, Disgenet, GenCC, Orphanet CTD, ClinVar, Disgenet, GenCC, Orphanet CTD, ClinVar, Disgenet, GenCC, Orphanet CTD, ClinVar, Disgenet, GenCC, Orphanet CTD, ClinVar, Disgenet, GenCC, Orphanet CTD, ClinVar, Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUANE RETRACTION SYNDROME WITH CONGENITAL DEAFNESS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUANE RETRACTION SYNDROME, TYPE 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARATHYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Acro Osteolysis	Associate	30208859	★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Kidney Injury	Associate	34774558	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	34893889	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Associate	33931079	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bankart Lesions	Associate	30208859	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Associate	29120020	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Associate	33460396	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	29757260, 39447710	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Associate	35328083	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Associate	28662356	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Associate	24738728, 30024657, 34242216	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	33312178, 37917179	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Associate	36899621	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	34774558	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Associate	30208859, 36646731	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia primary	Associate	35572839	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Stimulate	36775962	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia Brain	Stimulate	36775962	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	33312178, 34774558, 35280993	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	19131553	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Inhibit	25211130	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Plasma Cell	Associate	19013005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia T Cell	Associate	37996430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Associate	38255860	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	11429052, 15257707, 16728703, 17914559, 19013005, 19446321, 24638926, 29980194, 31391406, 36775962	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy	Associate	30605403	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	18381641, 24391856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Associate	25081408	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteosarcoma	Associate	36153605	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 2	Associate	11429052	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Associate	34852650	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre Eclampsia	Associate	35860693	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	37996430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Associate	30208859	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Associate	35563428	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Vasculitis	Associate	28440408	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Associate	24391856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberculosis	Associate	27035414	★★★★★ ★☆☆☆☆ Found in Text Mining only

MAFB (MAF bZIP transcription factor B)