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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. MITF, microphthalmia-associated transcription factor
Sequence ID:NM_000248
NM_001184967
NM_001184968
NM_006722
NM_198158
NM_198159
NM_198177
NM_198178
RefSeqGene ID:NG_011631
Entrez Gene ID:4286
Ensembl ID:ENSG00000187098

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
MELANOMA, CUTANEOUS MALIGNANT 
TIETZ ALBINISM-DEAFNESS SYNDROME 
WAARDENBURG SYNDROME, TYPE 2A 
WAARDENBURGSYNDROME/ALBINISM, DIGENICTYR

Cytogenetic Location (from UniGene)

Cytogenetic Location:3p14.2-p14.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 69788632 - 70015180

 Exon Info From UCSC:
NM_000248
NM_001184967
NM_001184968
NM_006722
NM_198158
NM_198159
NM_198177
NM_198178

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3924101Full LengthBC026961microphthalmia-associated transcription factor
6066096Full LengthBC065243microphthalmia-associated transcription factor
3463997IncompleteBC011461microphthalmia-associated transcription factor

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_937821  NP_006713  NP_937802  NP_937820  NP_937801  NP_000239  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000248 NP_000239   HLH
NM_001184967 NP_001171896    
NM_001184968 NP_001171897    
NM_006722 NP_006713   HLH
NM_198158 NP_937801   HLH
NM_198159 NP_937802   HLH
NM_198177 NP_937820   HLH
NM_198178 NP_937821   HLH

Related Sequences

 
mRNAGenPeptSwissProt
BC026961 AAH26961 O75030
BC065243 AAH65243 O75030
GU355676 ADB90411 D3K197
AB006909 BAA32288 O75030
AB006988 BAB83926 Q8WYR3
AB006989 BAC16749 Q8IUH6
AK291318 BAF84007 A8K5K3
AK296129 BAG58874 B4DJL2
AK297858 BAG60189 B4DNC7
Z29678 CAA82775 O75030
AL110195 CAB53672 O75030

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MITF NP_937802 M.musculus Mitf 17342 Gene Info NP_001106669 94
R.norvegicus Mitf 25094   XP_001065759 94

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta