Description
microphthalmia-associated transcription factor [Source:HGNC Symbol;Acc:7105]
Gene Synonyms
BHLHE32, CMM8, MI, WS2, WS2A, bHLHe32
Location
Chromosome 3: 69,788,586-70,017,488 forward strand.
GRCh37:CM000665.1
About this gene
This gene has 18 transcripts (splice variants), 3 paralogues and is associated with 87 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000352241.4 | MITF-001 | 4814 | 520aa | ENSP00000295600.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43106 | C9K0S7 O75030 | NM_198159.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000328528.6 | MITF-201 | 4680 | 519aa | ENSP00000327867.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9K0S7 O75030 Q8WYR3 | NM_006722.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000394355.2 | MITF-202 | 4573 | 495aa | ENSP00000377884.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9K0S7 O75030 | NM_198177.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000448226.2 | MITF-007 | 2489 | 526aa | ENSP00000391803.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9K0S7 O75030 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000472437.1 | MITF-014 | 1995 | 468aa | ENSP00000418845.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54607 | C9K0S7 O75030 | NM_001184967.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000394351.3 | MITF-004 | 1956 | 419aa | ENSP00000377880.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2913 | O75030 | NM_000248.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000314589.5 | MITF-015 | 1926 | 504aa | ENSP00000324443.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46865 | C9K0S7 O75030 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000314557.6 | MITF-005 | 1798 | 413aa | ENSP00000324246.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43107 | O75030 | NM_198178.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000451708.1 | MITF-003 | 1163 | 361aa | ENSP00000398639.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JBI8 C9K0S7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000531774.1 | MITF-016 | 1074 | 357aa | ENSP00000435909.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46866 | O75030 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000433517.1 | MITF-009 | 589 | 157aa | ENSP00000411389.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J845 C9K0S7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000429090.1 | MITF-012 | 542 | 70aa | ENSP00000407620.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9K0S7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000457080.1 | MITF-002 | 382 | 117aa | ENSP00000391276.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q8WYR3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000478490.1 | MITF-008 | 1642 | 105aa | ENSP00000433487.1 | Nonsense mediated decay | E9PKJ8 | - | - | |
| ENST00000394348.1 | MITF-006 | 1069 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000461014.1 | MITF-013 | 752 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000461511.1 | MITF-011 | 574 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000495741.1 | MITF-010 | 473 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
