DLX4
entrez
1748
canonical
uniprot
Q92988
canonical
ensembl
ENSG00000108813
resolver
ensp
ENSP00000240306
resolver
genesymbol
DLX4
resolver
genesymbol_syn
BP1
resolver
genesymbol_syn
DLX7
resolver
genesymbol_syn
DLX8
resolver
genesymbol_syn
DLX9
resolver
hgnc
HGNC:2917
resolver
uniprot
D3DTX2
resolver
uniprot
D3DTX3
resolver
uniprot
O60480
resolver
uniprot
Q13265
resolver
uniprot
Q6PJK0
resolver
uniprot
Q9HBE0
resolver
uniprot_entry
DLX4_HUMAN
resolver
uniprot_sec
D3DTX2
resolver
uniprot_sec
D3DTX3
resolver
uniprot_sec
O60480
resolver
uniprot_sec
Q13265
resolver
uniprot_sec
Q6PJK0
resolver
uniprot_sec
Q9HBE0
resolver
amino_acid_sequence
MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAASPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPLCGPAEHPQELEADSEKPRLSPEPSERRPQAPAKKLRKPRTIYSSLQLQHLNQRFQHTQYLALPERAQLAAQLGLTQTQVKIWFQNKRSKYKKLLKQNSGGQEGDFPGRTFSVSPCSPPLPSLWDLPKAGTLPTSGYGNSFGAWYQHHSSDVLASPQMM
uniprot
proteins
disease_involvement
DISEASE: Non-syndromic orofacial cleft 15 (OFC15) [MIM:616788]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant. {ECO:0000269|PubMed:25954033}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis. {ECO:0000269|PubMed:11909945, ECO:0000269|PubMed:25954033}.
uniprot
proteins
mass_dalton
26263
uniprot
proteins
protein_family
Distal-less homeobox family
uniprot
proteins
pubmed
11069021
uniprot
proteins
pubmed
11792834
uniprot
proteins
pubmed
11909945
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25954033
uniprot
proteins
pubmed
8975708
uniprot
proteins
pubmed
9073066
uniprot
proteins
pubmed
9467018
uniprot
proteins
sequence_length
240
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25954033}.
uniprot
proteins