MAFB (MAF bZIP transcription factor B)

Gene

• Entrez ID: 9935
• Gene name: MAF bZIP transcription factor B
• Gene symbol: MAFB
• Synonyms (NCBI Gene): DURS3, KRML, MCTO
• 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

SNPs

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

miRNA

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 assay, Microarray, qRT-PCR	20981674
MIRT016975	hsa-miR-335-5p	Microarray	18185580
MIRT001141	hsa-miR-130a-3p	Reporter assay	16549775
MIRT004507	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR	22797699
MIRT004507	hsa-miR-155-5p	Luciferase reporter assay, qRT-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 assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438425	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438424	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438003	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	24391856
MIRT438426	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438425	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438424	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438003	hsa-miR-199a-5p	Luciferase reporter assay, Western 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

Gene ontology (GO)

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

Other IDs

• MIM: 608968
• HGNC: 6408
• e!Ensembl: ENSG00000204103

Protein

• UniProt ID: 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

Pathways

KEGG:

Parathyroid hormone synthesis, secretion and action

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ 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
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ 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
TYPE 1 DUANE RETRACTION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31447817		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34893889	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31447817		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33931079	Associate	★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	29120020	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	33460396	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29757260, 39447710	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35328083	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	28662356	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	24738728, 30024657, 34242216	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26204962		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26204962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	26204962		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23863625		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	27181683, 29779709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	ORPHANET_DG	27181683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Duane Retraction Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUANE RETRACTION SYNDROME 3	DUANE RETRACTION SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS	Duane Retraction Syndrome With Or Without Deafness	GENOMICS_ENGLAND_DG	23670161		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duane retraction syndrome with congenital deafness	Duane Retraction Syndrome With Congenital Deafness	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 2	Duane syndrome	CLINVAR_DG	27181683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 2	Duane syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 3	Duane syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26375028		★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	36899621	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	23956186		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29779709		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	30208859, 36646731	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	28964572		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	29670181		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36775962	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26204962, 28394332		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19131553	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25211130	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25721756		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27448450		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16373702		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	15543617		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	38255860	Associate	★☆☆☆☆ Found in Text Mining only
Multicentric carpo-tarsal osteolysis with or without nephropathy	Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	11429052, 15257707, 15543617, 16044163, 19013005, 24638926, 28008178, 29980194		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11429052, 15257707, 16728703, 17914559, 19013005, 19446321, 24638926, 29980194, 31391406, 36775962	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	19013005		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26055874		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10444328, 18381641, 24391856		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Okihiro Syndrome	Duane-radial ray syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	25081408	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	Multicentric carpo tarsal osteolysis with or without nephropathy	UNIPROT_DG	22387013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	Multicentric carpo tarsal osteolysis with or without nephropathy	ORPHANET_DG	22387013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	Multicentric carpo tarsal osteolysis with or without nephropathy	BEFREE	23670161, 23956186, 24989131, 30208859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	Multicentric carpo tarsal osteolysis with or without nephropathy	GENOMICS_ENGLAND_DG	23670161, 27181683, 30430035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	Multicentric carpo tarsal osteolysis with or without nephropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy	Multicentric carpo tarsal osteolysis with or without nephropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30716449		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36153605	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	29670181		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34852650	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29138297		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	30208859	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	35563428	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	24391856	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24972815		★☆☆☆☆ Found in Text Mining only
Type 1 Duane Retraction Syndrome	Duane Retraction Syndrome	CLINVAR_DG	27181683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 1 Duane Retraction Syndrome	Duane Retraction Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	20436469		★☆☆☆☆ Found in Text Mining only