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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4286
Gene name Gene Name - the full gene name approved by the HGNC.	Melanocyte inducing transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MITF
Synonyms (NCBI Gene) Gene synonyms aliases	CMM8, COMMAD, MI, MITF-A, WS2, WS2A, bHLHe32
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of

Show/Hide all(39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893744	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs104893745	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs104893746	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs104893747	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs137944487	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs147682682	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs149617956	G>A	Pathogenic-likely-pathogenic, pathogenic, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs200580325	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs368915509	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs876657698	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs876657699	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs876657700	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs878853234	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1057517966	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518765	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519325	G>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519326	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1057519327	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057521096	G>A	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs1057522775	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064797294	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1236436555	G>C	Likely-pathogenic	Intron variant
rs1553701477	G>A	Pathogenic	Splice donor variant, intron variant
rs1553702006	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant
rs1553702406	TT>CC	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553703612	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553703619	->CGGGAAACTTGAT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1553704086	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553704093	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553704097	T>C	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553704814	AGA>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1553704841	C>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1553704850	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1553705282	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1559745185	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1559749017	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1559751245	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1576005420	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576047519	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001989	hsa-miR-96-5p	Luciferase reporter assay	17597072
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Luciferase reporter assay, Western blot	19188590
MIRT001990	hsa-miR-182-5p	Review	19935707
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT005883	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21051724
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	22771905
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	22771905
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	22771905
MIRT001990	hsa-miR-182-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22848417
MIRT001990	hsa-miR-182-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22848417
MIRT001990	hsa-miR-182-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22848417
MIRT027612	hsa-miR-98-5p	Microarray	19088304
MIRT053171	hsa-miR-218-5p	Flow, Immunofluorescence, Luciferase reporter assay, Western blot	24696000
MIRT438717	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23962556
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT438717	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23962556
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT438168	hsa-miR-675-5p	Flow, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24335901
MIRT701955	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT701954	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT701953	hsa-miR-551b-5p	HITS-CLIP	23313552
MIRT701952	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT701951	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT701950	hsa-miR-6830-5p	HITS-CLIP	23313552
MIRT701949	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT701948	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT701947	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT701946	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT701945	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT701944	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT701943	hsa-miR-3679-3p	HITS-CLIP	23313552
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607079	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607079	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607079	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607083	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT607082	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607081	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT607080	hsa-miR-147a	HITS-CLIP	24906430
MIRT607079	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT473191	hsa-miR-6828-5p	PAR-CLIP	23592263
MIRT473189	hsa-miR-147b	PAR-CLIP	23592263
MIRT473190	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT473188	hsa-miR-2113	PAR-CLIP	23592263
MIRT734944	hsa-miR-340-5p	Immunoprecipitaion???Luciferase reporter assay	25414259
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT006969	hsa-miR-155-5p	Luciferase reporter assay	25853464
MIRT438717	hsa-miR-101-3p	Microarray	28416776
MIRT575643	hsa-miR-147a	HITS-CLIP	27418678
MIRT575646	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT575642	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575644	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT575645	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT734944	hsa-miR-340-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33179560
MIRT701955	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT701954	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT701953	hsa-miR-551b-5p	HITS-CLIP	23313552
MIRT701952	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT701951	hsa-miR-4762-5p	HITS-CLIP	23313552
MIRT701950	hsa-miR-6830-5p	HITS-CLIP	23313552
MIRT701949	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT701948	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT701947	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT701946	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT701945	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT701944	hsa-miR-513a-5p	HITS-CLIP	23313552
MIRT701943	hsa-miR-3679-3p	HITS-CLIP	23313552
MIRT575646	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT575645	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT575642	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT473191	hsa-miR-6828-5p	PAR-CLIP	23592263
MIRT473189	hsa-miR-147b	PAR-CLIP	23592263
MIRT473190	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT473188	hsa-miR-2113	PAR-CLIP	23592263
MIRT1149555	hsa-miR-1183	CLIP-seq
MIRT1149556	hsa-miR-124	CLIP-seq
MIRT1149557	hsa-miR-1298	CLIP-seq
MIRT1149558	hsa-miR-2682	CLIP-seq
MIRT1149559	hsa-miR-3613-3p	CLIP-seq
MIRT1149560	hsa-miR-3714	CLIP-seq
MIRT1149561	hsa-miR-3910	CLIP-seq
MIRT1149562	hsa-miR-3935	CLIP-seq
MIRT1149563	hsa-miR-4477b	CLIP-seq
MIRT1149564	hsa-miR-449c	CLIP-seq
MIRT1149565	hsa-miR-4738-3p	CLIP-seq
MIRT1149566	hsa-miR-4775	CLIP-seq
MIRT1149567	hsa-miR-506	CLIP-seq
MIRT1149568	hsa-miR-548a-5p	CLIP-seq
MIRT1149569	hsa-miR-548ab	CLIP-seq
MIRT1149570	hsa-miR-548ak	CLIP-seq
MIRT1149571	hsa-miR-548b-5p	CLIP-seq
MIRT1149572	hsa-miR-548c-5p	CLIP-seq
MIRT1149573	hsa-miR-548d-5p	CLIP-seq
MIRT1149574	hsa-miR-548h	CLIP-seq
MIRT1149575	hsa-miR-548i	CLIP-seq
MIRT1149576	hsa-miR-548j	CLIP-seq
MIRT1149577	hsa-miR-548n	CLIP-seq
MIRT1149578	hsa-miR-548w	CLIP-seq
MIRT1149579	hsa-miR-548y	CLIP-seq
MIRT1149580	hsa-miR-559	CLIP-seq
MIRT1149581	hsa-miR-577	CLIP-seq
MIRT1149582	hsa-miR-607	CLIP-seq
MIRT1149583	hsa-miR-4452	CLIP-seq
MIRT1149584	hsa-miR-183	CLIP-seq
MIRT1149585	hsa-miR-320a	CLIP-seq
MIRT1149586	hsa-miR-320b	CLIP-seq
MIRT1149587	hsa-miR-320c	CLIP-seq
MIRT1149588	hsa-miR-320d	CLIP-seq
MIRT1149589	hsa-miR-377	CLIP-seq
MIRT1149590	hsa-miR-4429	CLIP-seq
MIRT1149557	hsa-miR-1298	CLIP-seq
MIRT2042528	hsa-miR-4504	CLIP-seq
MIRT2042529	hsa-miR-4645-3p	CLIP-seq
MIRT2042530	hsa-miR-542-3p	CLIP-seq
MIRT2042531	hsa-miR-758	CLIP-seq
MIRT2272176	hsa-miR-3612	CLIP-seq
MIRT2272177	hsa-miR-650	CLIP-seq

Transcription factors

Show/Hide all(19)

Transcription factor	Regulation	Reference
ATF1	Activation	12966428
ATF1	Unknown	20068147
CREB1	Activation	19937254
EWSR1	Activation	12966428
FOXD3	Repression	21519923
LEF1	Activation	12048204
ONECUT1	Unknown	11478782
ONECUT2	Activation	11478782
PAX3	Activation	20925909;21965087
PAX3	Repression	19074888
PAX3	Unknown	19026785;9500554
POU3F2	Unknown	18628967
SOX10	Activation	16921166
SOX10	Repression	16494873
SOX10	Unknown	10938265;19026785
SOX9	Unknown	17702866
TCF4	Repression	21519923
TRRAP	Repression	15581068
ZNF382	Repression	20682794

Show/Hide all(65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	24769727
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	IDA	14737107
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	NAS	24769727
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	14737107, 20530484
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	14737107
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	15507434, 20530484, 21811243, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16822840, 36608670
GO:0005634	Component	Nucleus	IDA	27889061, 28842328
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9647758, 10578055
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	16822840, 28842328, 36608670
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	23401004, 36608670
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	27889061
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9647758, 10578055
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	22234890
GO:0010628	Process	Positive regulation of gene expression	IMP	22234890, 22523078
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	IBA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	NAS	9647758
GO:0030336	Process	Negative regulation of cell migration	IMP	19188590
GO:0032991	Component	Protein-containing complex	IDA	20530484
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9647758
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	10578055
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20530484, 21209915
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14737107
GO:0046849	Process	Bone remodeling	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	20530484
GO:0070888	Function	E-box binding	IDA	27889061
GO:0070888	Function	E-box binding	IEA
GO:1902362	Process	Melanocyte apoptotic process	IEA
GO:2000144	Process	Positive regulation of DNA-templated transcription initiation	IDA	8995290, 12204775
GO:2001141	Process	Regulation of RNA biosynthetic process	IDA	16411896

MIM	HGNC	e!Ensembl
156845	7105	ENSG00000187098

Protein

UniProt ID

O75030

Protein name

Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32)

Protein function

Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrica

PDB

4C7N , 7D8R , 7D8S , 7D8T , 7EOD , 8E1D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15951	MITF_TFEB_C_3_N	56 → 228	MITF/TFEB/TFEC/TFE3 N-terminus	Family
PF00010	HLH	312 → 365	Helix-loop-helix DNA-binding domain	Domain
PF11851	DUF3371	397 → 522	Domain of unknown function (DUF3371)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes (at protein level). {ECO:0000269|PubMed:28842328}.; TISSUE SPECIFICITY: [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta (PubMed:9647758). Expressed in the kidney (PubMed:10578055,

Sequence

MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTE
SEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDY
IRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR
IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK
LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC

Sequence length

526

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Osteoclast differentiation Melanogenesis Pathways in cancer Transcriptional misregulation in cancer Melanoma		SUMOylation of transcription factors

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Tietz Syndrome	tietz syndrome	rs1576005420, rs1553704814, rs104893745	N/A
Waardenburg Syndrome	waardenburg syndrome, Waardenburg syndrome type 2A, waardenburg syndrome type 1	rs1064797294, rs104893746, rs1553702006, rs1576047519, rs1553704841, rs876657699, rs1559749017, rs1553701477, rs878853234, rs1553703612, rs1057517966, rs147682682, rs1057518765, rs1553704086, rs1553704814 View all (10 more)	N/A
hearing impairment	Hearing impairment	rs104893746	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Dyslexia	Dyslexia	N/A	N/A	GWAS
Melanoma	melanoma, cutaneous malignant, susceptibility to, 8	N/A	N/A	GenCC
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Nonsyndromic Deafness	nonsyndromic deafness	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (108)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	22491060
Adenocarcinoma of Lung	Associate	38016436
Adenomatous Polyposis Coli	Associate	39519399
Albinism	Associate	32728090, 35488210
Angiomyolipoma	Associate	11485907, 11800647
Biliary Tract Neoplasms	Associate	32012241
Bone Cysts Aneurysmal	Associate	15205688
Bone Diseases	Associate	17464203
Bone Diseases Metabolic	Associate	17464203
Bone Resorption	Associate	15205688
Breast Neoplasms	Associate	31554806, 36045272
Calcinosis Cutis	Associate	16001072, 16489066, 36040798
Carcinogenesis	Associate	18971960, 25890285, 26999813
Carcinoma Giant Cell	Associate	15205688
Carcinoma Hepatocellular	Associate	28794318
Carcinoma Medullary	Associate	37236926
Carcinoma Ovarian Epithelial	Associate	33371469
Carcinoma Renal Cell	Associate	17284252, 19396149, 19496784, 20679884, 24899691, 25401301, 26650189, 28840857, 30591082, 30622287, 31034483, 31828108, 33242557, 33854184, 34767027, 36564980, 37095531 View all (2 more)
Carcinoma Squamous Cell	Associate	22491060
Cholangiocarcinoma	Associate	28794318
Chondroblastoma	Associate	15205688
Colorectal Neoplasms	Associate	21577209, 25789707
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	28392346
COVID 19	Associate	33923155
Deafness	Associate	10851256, 22258527, 23787126, 27759048, 31960627, 31992338, 33942382, 34325055, 34997062
Death	Associate	32699307
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	29531335
Diabetic Foot	Associate	38041124
Drug Hypersensitivity	Associate	36834926
Dysplastic Nevus Syndrome	Associate	32054529
Esophageal Neoplasms	Associate	35092699
Esophageal Squamous Cell Carcinoma	Associate	35092699
Eye Abnormalities	Associate	22258527, 32728090
Familial renal cell carcinoma	Associate	33242557
Gastrointestinal Stromal Tumors	Associate	21977985, 36241703, 36834926
Genetic Diseases Inborn	Associate	32699307
Giant Cell Tumor of Bone	Associate	15205688
Giant Cell Tumors	Associate	24059329
Hearing Loss	Associate	29293505, 31213145, 31436206, 31898538, 32728090, 33045145, 35982127, 36194208
Hearing Loss Sensorineural	Associate	29986705, 34323021
Hearing Loss Unilateral	Associate	31213145
Heterochromia iridis	Associate	31436206
Hirschsprung Disease	Associate	33557787
Histiocytoma Angiomatoid Fibrous	Associate	35347249
Histiocytosis Non Langerhans Cell	Associate	24656263
Hyperpigmentation	Associate	36555593
Hypopigmentation	Associate	10851256, 22258527, 23787126
Hypoxia	Associate	20526217, 24390218, 24471568, 25867763, 31207090
Hypoxia	Inhibit	23144021
Hypoxia Brain	Stimulate	25867763
Inflammation	Associate	37240204
Kashin Beck Disease	Associate	31220921
Kidney Neoplasms	Associate	23038766, 26999813, 28787086, 31034483
Leukemia Mast Cell	Associate	36834926
Lymphatic Metastasis	Associate	38065972
Malignant mesenchymal tumor	Associate	34821426
Mast Cell Activation Disorders	Associate	36834926
Melanoma	Associate	10747853, 11886515, 12136092, 12944398, 15103749, 15607961, 16001072, 16116595, 16455654, 16489066, 16645588, 17071589, 17384650, 18628967, 18971960 View all (110 more)
Melanoma	Inhibit	17201154, 23477830, 35562405
Melanoma Amelanotic	Associate	22555175, 23774529
Melanoma Cutaneous Malignant	Associate	19383316, 27640074, 32054529, 32699307, 33322357, 34573422, 35512098, 37898636
Melanosis	Associate	22258527, 27759048
Mesothelioma	Associate	27181379
Monosomy	Inhibit	37240204
Mouth Neoplasms	Associate	32495878
Neoplasm Metastasis	Inhibit	19496784
Neoplasm Metastasis	Associate	22491060, 22496449, 26106605, 31881017, 34573422
Neoplasms	Associate	14685254, 16001072, 19422606, 22491060, 22848417, 23091610, 23368872, 24618614, 24733089, 25578962, 26106605, 27124452, 27185926, 30001237, 30824584 View all (12 more)
Neoplasms	Inhibit	17284252, 21072171
Neuralgia	Associate	33494823
Neurodegenerative Diseases	Associate	27640074
Neurothekeoma	Associate	14685254
Nevus	Associate	26650189
Nevus Pigmented	Associate	16455654, 23774529, 32889887
Nonsyndromic Deafness	Associate	32728090
Nonsyndromic sensorineural hearing loss	Associate	31898538, 32728090
Oculocutaneous albinism type 2	Associate	34323021
Oncogene Addiction	Associate	35580987
Osteopetrosis	Associate	15205688
Osteoporosis	Associate	17464203
Ovarian Neoplasms	Associate	33371469
Pain	Associate	33494823
Pancreatic Neoplasms	Associate	28283772, 39256447
Papillary renal cell carcinoma sporadic	Associate	33242557
Parkinson Disease	Associate	27640074
Peripheral Demyelinating Neuropathy Central Dysmyelination Waardenburg Syndrome and Hirschsprung Disease	Associate	33557787
Peritonitis	Associate	33371469
Perivascular Epithelioid Cell Neoplasms	Associate	21977985
Pheochromocytoma	Associate	26032282
Pigmentation Disorders	Associate	12944398, 17460731, 17702866, 19383316, 19422606, 23787126, 25705847, 28819321, 32151278, 32699307, 33179560
Prostatic Neoplasms	Associate	36768146
Retinitis	Associate	22523078
Sarcoidosis	Associate	15205688
Sarcoma Alveolar Soft Part	Associate	25805798
Sarcoma Clear Cell	Associate	12966428, 25805798
Sarcoma Clear Cell	Stimulate	35347249
Skin Neoplasms	Associate	37353163
Spinal Cord Injuries	Associate	33494823
Stomach Neoplasms	Associate	36268034
Synovitis Pigmented Villonodular	Associate	15205688
Thyroid Cancer Papillary	Associate	32495885
Tietz syndrome	Associate	10536986, 10851256, 22258527, 23787126, 33506017
Tuberous Sclerosis	Associate	27918305
Uveal melanoma	Associate	22848417, 35512098, 37240204
Vitiligo	Associate	17071589, 26315342, 36438898
Waardenburg Syndrome	Associate	10536986, 12944398, 22876130, 24194866, 25932447, 26781036, 29115496, 29630160, 30936914, 31213145, 31960627, 32728090, 32908492, 33045145, 33454628 View all (8 more)
Waardenburg syndrome type 2	Associate	10536986, 10851256, 29531335, 31213145, 33045145, 34323021, 8659547
Waardenburg syndrome type 2A	Associate	16638435, 17999358, 23787126, 24194866, 27759048, 31436206, 33557787, 33571247, 33942382, 34544414, 36329483, 8659547

MITF (melanocyte inducing transcription factor)