InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: BT.47446

Summary

InnateDB Gene

IDBG-636901.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BT.47446

Gene Name

homeobox protein aristaless-like 4

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000027563

Encoded Proteins

IDBP-688873

homeobox protein aristaless-like 4

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 ENSG00000052850:
This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 15:75154393-75187019

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000047360

ENSBTAP00000044572

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 37 interaction(s) predicted by orthology.

Predicted by orthology
Total	37 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity
GO:0071837	HMG box domain binding

Biological Process

GO:0001942	hair follicle development
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007389	pattern specification process
GO:0007517	muscle organ development
GO:0009791	post-embryonic development
GO:0009952	anterior/posterior pattern specification
GO:0035108	limb morphogenesis
GO:0035115	embryonic forelimb morphogenesis
GO:0035116	embryonic hindlimb morphogenesis
GO:0042733	embryonic digit morphogenesis
GO:0042981	regulation of apoptotic process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048565	digestive tract development
GO:0048704	embryonic skeletal system morphogenesis
GO:0048705	skeletal system morphogenesis
GO:0060021	palate development

Cellular Component

GO:0005634	nucleus
GO:0005667	transcription factor complex

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000052850

View Gene Order

ENSMUSG00000040310

View Gene Order

Cross-References

SwissProt

TrEMBL

E1BA64

UniProt Splice Variant

Entrez Gene

594846

UniGene

Bt.47446

RefSeq

NM_001030304

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

DAAA02041507 DAAA02041508 DAAA02041509 DAAA02041510

GenPept

RNA Seq Atlas

594846