HOXA2
entrez
3199
canonical
uniprot
O43364
canonical
ensembl
ENSG00000105996
resolver
ensp
ENSP00000222718
resolver
enst
ENST00000222718
resolver
genesymbol
HOXA2
resolver
genesymbol_syn
HOX1K
resolver
hgnc
HGNC:5103
resolver
uniprot
A1L4K3
resolver
uniprot
B2RMW3
resolver
uniprot_entry
HXA2_HUMAN
resolver
uniprot_sec
A1L4K3
resolver
uniprot_sec
B2RMW3
resolver
amino_acid_sequence
MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLNPGSHPRHGAGGRPKPSPAGSRGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAAATGPACLSHKESLEIADGSGGGSRRLRTAYTNTQLLELEKEFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEEDEEEKTLFEQALSVSGALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLSTMGQNCGAGLNNDSPEALEVPSLQDFSVFSTDSCLQLSDAVSPSLPGSLDSPVDISADSLDFFTDTLTTIDLQHLNY
uniprot
proteins
disease_involvement
DISEASE: Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]: A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. {ECO:0000269|PubMed:18394579}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Microtia with or without hearing impairment (MCRT) [MIM:612290]: Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. {ECO:0000269|PubMed:23775976}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
uniprot
proteins
mass_dalton
41002
uniprot
proteins
protein_family
Antp homeobox family
uniprot
proteins
protein_family
Proboscipedia subfamily
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18394579
uniprot
proteins
pubmed
23775976
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins