IRX5
entrez
10265
canonical
uniprot
P78411
canonical
ensembl
ENSG00000176842
resolver
ensp
ENSP00000316250
resolver
ensp
ENSP00000378132
resolver
genesymbol
IRX5
resolver
genesymbol_syn
IRX2A
resolver
genesymbol_syn
IRXB2
resolver
hgnc
HGNC:14361
resolver
uniprot
H0YMS7
resolver
uniprot
P78416
resolver
uniprot
Q7Z2E1
resolver
uniprot_entry
IRX5_HUMAN
resolver
uniprot_sec
H0YMS7
resolver
uniprot_sec
P78416
resolver
uniprot_sec
Q7Z2E1
resolver
amino_acid_sequence
MSYPQGYLYQPSASLALYSCPAYSTSVISGPRTDELGRSSSGSAFSPYAGSTAFTAPSPGYNSHLQYGADPAAAAAAAFSSYVGSPYDHTPGMAGSLGYHPYAAPLGSYPYGDPAYRKNATRDATATLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWTPRNRSEDEEEEENIDLEKNDEDEPQKPEDKGDPEGPEAGGAEQKAASGCERLQGPPTPAGKETEGSLSDSDFKEPPSEGRLDALQGPPRTGGPSPAGPAAARLAEDPAPHYPAGAPAPGPHPAAGEVPPGPGGPSVIHSPPPPPPPAVLAKPKLWSLAEIATSSDKVKDGGGGNEGSPCPPCPGPIAGQALGGSRASPAPAPSRSPSAQCPFPGGTVLSRPLYYTAPFYPGYTNYGSFGHLHGHPGPGPGPTTGPGSHFNGLNQTVLNRADALAKDPKMLRSQSQLDLCKDSPYELKKGMSDI
uniprot
proteins
disease_involvement
DISEASE: Hamamy syndrome (HMMS) [MIM:611174]: A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. {ECO:0000269|PubMed:22581230}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12. {ECO:0000250, ECO:0000269|PubMed:22581230}.
uniprot
proteins
mass_dalton
50361
uniprot
proteins
protein_family
TALE/IRO homeobox family
uniprot
proteins
pubmed
10370142
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18519790
uniprot
proteins
pubmed
22581230
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
483
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins