Bos taurus Gene: BT.29882
Summary
InnateDB Gene IDBG-644985.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.29882
Gene Name microphthalmia-associated transcription factor isoform M-
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000006679
Encoded Proteins
microphthalmia-associated transcription factor isoform M-
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000187098:
This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:31735990-31769463
Strand Reverse strand
Band
Transcripts
ENSBTAT00000008789 ENSBTAP00000008789
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.
Predicted by orthology
Total 33 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006461 protein complex assembly
GO:0010468 regulation of gene expression
GO:0016055 Wnt signaling pathway
GO:0030154 cell differentiation
GO:0030316 osteoclast differentiation
GO:0030318 melanocyte differentiation
GO:0042127 regulation of cell proliferation
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043473 pigmentation
GO:0044336 canonical Wnt signaling pathway involved in negative regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045670 regulation of osteoclast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046849 bone remodeling
Cellular Component
GO:0005634 nucleus
GO:0043234 protein complex
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
KitReceptor pathway
RANKL pathway
REACTOME
KEGG
Melanoma pathway
Melanogenesis pathway
Pathways in cancer pathway
Osteoclast differentiation pathway
Melanogenesis pathway
Melanoma pathway
Pathways in cancer pathway
Osteoclast differentiation pathway
INOH
PID NCI
Regulation of retinoblastoma protein
Regulation of nuclear beta catenin signaling and target gene transcription
Signaling events mediated by Stem cell factor receptor (c-Kit)
Signaling mediated by p38-alpha and p38-beta
IL6-mediated signaling events
Cross-References
SwissProt
TrEMBL F1MCS8
UniProt Splice Variant
Entrez Gene 407219
UniGene
RefSeq NM_001001150
HUGO HGNC:7105
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02054059
GenPept
RNA Seq Atlas 407219