| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4286 |
Name | MITF |
Synonym | MI|WS2|WS2A|bHLHe32;microphthalmia-associated transcription factor;MITF;microphthalmia-associated transcription factor |
Definition | class E basic helix-loop-helix protein 32 |
Position | 3p14.2-p14.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Regulation of retinoblastoma protein;PID Curated;200191 |
Pathway | Melanoma;KEGG PATHWAY;hsa05218 |
Pathway | Melanogenesis;KEGG PATHWAY;hsa04916 |
Pathway | Signaling mediated by p38-alpha and p38-beta;PID Curated;200154 |
Pathway | IL6-mediated signaling events;PID Curated;200124 |
Pathway | melanocyte development and pigmentation pathway;PID BioCarta;100108 |
Pathway | Regulation of Wnt-mediated beta catenin signaling and target gene transcription;PID Curated;200106 |
Pathway | Signaling events mediated by Stem cell factor receptor (c-Kit);PID Curated;200156 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Disease | Drug abuse;FunDO |
Disease | Renal Cell cancer;FunDO |
Disease | Embryoma;FunDO |
Disease | Cancers;KEGG DISEASE |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Waardenburg syndrome, type IIA;OMIM |
Disease | Malignant melanoma;KEGG DISEASE;H00038 |
Disease | Clear cell carcinoma;FunDO |
Disease | Ocular albinism;KEGG DISEASE;H00169 |
Disease | Melanoma;FunDO |
Disease | Rheumatoid arthritis;FunDO |
Disease | Tietz albinism-deafness syndrome;OMIM |
Disease | Skin cancers;KEGG DISEASE |
Disease | Waardenburg syndrome/ocular albinism, digenic;OMIM |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
External Links | |
Links to Entrez Gene | 4286 |
Links to all GeneRIF Items | 4286 |
Links to iHOP | 4286 |
Sequence Information | |
Nucleotide Sequence | >4286 : length: 1260 atgctggaaatgctagaatataatcactatcaggtgcagacccacctcgaaaaccccacc aagtaccacatacagcaagcccaacggcagcaggtaaagcagtacctttctaccacttta gcaaataaacatgccaaccaagtcctgagcttgccatgtccaaaccagcctggcgatcat gtcatgccaccggtgccggggagcagcgcacccaacagccccatggctatgcttacgctt aactccaactgtgaaaaagagggattttataagtttgaagagcaaaacagggcagagagc gagtgcccaggcatgaacacacattcacgagcgtcctgtatgcagatggatgatgtaatc gatgacatcattagcctagaatcaagttataatgaggaaatcttgggcttgatggatcct gctttgcaaatggcaaatacgttgcctgtctcgggaaacttgattgatctttatggaaac caaggtctgcccccaccaggcctcaccatcagcaactcctgtccagccaaccttcccaac ataaaaagggagctcacagcgtgtatttttcccacagagtctgaagcaagagcactggcc aaagagaggcagaaaaaggacaatcacaacctgattgaacgaagaagaagatttaacata aatgaccgcattaaagaactaggtactttgattcccaagtcaaatgatccagacatgcgc tggaacaagggaaccatcttaaaagcatccgtggactatatccgaaagttgcaacgagaa cagcaacgcgcaaaagaacttgaaaaccgacagaagaaactggagcacgccaaccggcat ttgttgctcagaatacaggaacttgaaatgcaggctcgagctcatggactttcccttatt ccatccacgggtctctgctctccagatttggtgaatcggatcatcaagcaagaacccgtt cttgagaactgcagccaagacctccttcagcatcatgcagacctaacctgtacaacaact ctcgatctcacggatggcaccatcaccttcaacaacaacctcggaactgggactgaggcc aaccaagcctatagtgtccccacaaaaatgggatccaaactggaagacatcctgatggac gacaccctttctcccgtcggtgtcactgatccactcctttcctcagtgtcccccggagct tccaaaacaagcagccggaggagcagtatgagcatggaagagacggagcacacttgttag |
Protein Sequence | >4286 : length: 419 MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVI DDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN IKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMR WNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI PSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEA NQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC |