MI-136

Identity

HGNC:7105
Gene

MITF
Long gene name

melanocyte inducing transcription factor
Synonyms gene
- WS2A
- WS2
Synonyms gene name
- Waardenburg syndrome, type 2A
- microphthalmia-associated transcription factor
- melanogenesis associated transcription factor
Synonyms
- MI
- bHLHe32
Synonyms name
- homolog of mouse microphthalmia
Locus

3p13
Discovery year

1993-10-27
Entrez gene record

4286
Pubmed identfication
- 8069297
- 7874167
- 7951321
RefSeq identity
- NM_198159
Classification
- Basic helix-loop-helix proteins
VEGA ID

OTTHUMG00000149921
Locus Specific Databases
- Global Variome shared LOVD
- LRG_776

Identity

HGNC:1919
Gene

CHD4
Long gene name

chromodomain helicase DNA binding protein 4
Synonyms
- Mi-2b
- Mi2-BETA
GenBank acession
- X86691
Locus

12p13.31
Discovery year

1998-03-20
Entrez gene record

1108
Pubmed identfication
- 7575689
- 27235397
RefSeq identity
- NM_001273
Classification
- NuRD complex subunits
- PHD finger proteins
- Small nucleolar RNA protein coding host genes
VEGA ID

OTTHUMG00000169164

Identity

HGNC:29657
Gene

MIER1
Long gene name

MIER1 transcriptional regulator
Synonyms gene name
- mesoderm induction early response 1 homolog (Xenopus laevis)
- mesoderm induction early response 1, transcriptional regulator
Synonyms
- hMI-ER1
- MI-ER1
- KIAA1610
Locus

1p31.3
Discovery year

2005-07-14
Entrez gene record

57708
Pubmed identfication
- 12242014
- 12482978
RefSeq identity
- NM_020948
Classification
- Myb/SANT domain containing
VEGA ID

OTTHUMG00000009194

Identity

HGNC:1918
Gene

CHD3
Long gene name

chromodomain helicase DNA binding protein 3
Synonyms
- Mi-2a
- ZFH
- Mi2-ALPHA
GenBank acession
- U08379
Locus

17p13.1
Discovery year

1998-03-20
Entrez gene record

1107
Pubmed identfication
- 9326634
- 7560064
RefSeq identity
- NM_001005273
Classification
- Small nucleolar RNA protein coding host genes
- NuRD complex subunits
- PHD finger proteins
VEGA ID

OTTHUMG00000150427