Gene: MITF ENSG00000187098

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

Show transcript tableHide transcript table

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		-	-	-

Favourite species

All species

Recent locations

Gene: MITF ENSG00000187098

Summary