Description

microphthalmia-associated transcription factor [Source:HGNC Symbol;Acc:HGNC:7105]

Synonyms

bHLHe32, MI, WS2, WS2A

Location

Chromosome 3: 69,739,435-69,968,337 forward strand.

GRCh38:CM000665.2

About this gene

This gene has 17 transcripts (splice variants), 63 orthologues, 3 paralogues, is a member of 2 Ensembl protein families and is associated with 13 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MITF-001ENST000003522414814520aaENSP00000295600
 
Protein coding
CCDS43106O75030 NM_198159
NP_937802
TSL:1GENCODE basicAPPRIS ALT1
MITF-014ENST000004724371995468aaENSP00000418845
 
Protein coding
CCDS54607O75030 NM_001184967
NP_001171896
TSL:2GENCODE basicAPPRIS ALT1
MITF-015ENST000003145891993504aaENSP00000324443
 
Protein coding
CCDS46865O75030 NM_198177
NP_937820
TSL:2GENCODE basic
MITF-004ENST000003943511956419aaENSP00000377880
 
Protein coding
CCDS2913O75030 NM_000248
NP_000239
TSL:1GENCODE basicAPPRIS P3
MITF-005ENST000003145571798413aaENSP00000324246
 
Protein coding
CCDS43107O75030 NM_198158
NP_937801
TSL:1GENCODE basicAPPRIS ALT1
MITF-016ENST000005317741074357aaENSP00000435909
 
Protein coding
CCDS46866O75030 NM_198178
NP_937821
TSL:1GENCODE basic
MITF-006ENST00000394348106991aaENSP00000481286
 
Protein coding
CCDS74962A0A087WXU1 NM_001184968
NP_001171897
TSL:1GENCODE basic
MITF-201ENST000003285284680519aaENSP00000327867
 
Protein coding
-O75030 NM_006722
NP_006713
TSL:5GENCODE basic
MITF-007ENST000004482262489526aaENSP00000391803
 
Protein coding
-O75030 -TSL:5GENCODE basicAPPRIS ALT1
MITF-003ENST000004517081116361aaENSP00000398639
 
Protein coding
-C9JBI8 -CDS 3' incompleteTSL:5
MITF-009ENST00000433517589157aaENSP00000411389
 
Protein coding
-C9J845 -CDS 3' incompleteTSL:3
MITF-012ENST0000042909054271aaENSP00000407620
 
Protein coding
-C9K0S7 -CDS 3' incompleteTSL:5
MITF-002ENST00000457080382117aaENSP00000391276
 
Protein coding
-Q8WYR3 -CDS 3' incompleteTSL:1
MITF-008ENST000004784901642105aaENSP00000433487
 
Nonsense mediated decay
-E9PKJ8 -TSL:5
MITF-013ENST00000461014752No protein-
 
Processed transcript
---TSL:5
MITF-011ENST00000461511574No protein-
 
Processed transcript
---TSL:4
MITF-010ENST00000495741473No protein-
 
Processed transcript
---TSL:4

Gene-based displays