LHX4
entrez
89884
canonical
uniprot
Q969G2
canonical
ensembl
ENSG00000121454
resolver
ensp
ENSP00000263726
resolver
enst
ENST00000263726
resolver
genesymbol
LHX4
resolver
hgnc
HGNC:21734
resolver
uniprot
A0A0S2Z5S4
resolver
uniprot
Q8NHE0
resolver
uniprot
Q8NHM1
resolver
uniprot
Q8TCJ1
resolver
uniprot
Q8WWX2
resolver
uniprot
Q969W2
resolver
uniprot_entry
A0A0S2Z5S4_HUMAN
resolver
uniprot_entry
LHX4_HUMAN
resolver
uniprot_sec
Q8NHE0
resolver
uniprot_sec
Q8NHM1
resolver
uniprot_sec
Q8TCJ1
resolver
uniprot_sec
Q8WWX2
resolver
uniprot_sec
Q969W2
resolver
amino_acid_sequence
MMQSATVPAEGAVKGLPEMLGVPMQQIPQCAGCNQHILDKFILKVLDRHWHSSCLKCADCQMQLADRCFSRAGSVYCKEDFFKRFGTKCTACQQGIPPTQVVRKAQDFVYHLHCFACIICNRQLATGDEFYLMEDGRLVCKEDYETAKQNDDSEAGAKRPRTTITAKQLETLKNAYKNSPKPARHVREQLSSETGLDMRVVQVWFQNRRAKEKRLKKDAGRHRWGQFYKSVKRSRGSSKQEKESSAEDCGVSDSELSFREDQILSELGHTNRIYGNVGDVTGGQLMNGSFSMDGTGQSYQDLRDGSPYGIPQSPSSISSLPSHAPLLNGLDYTVDSNLGIIAHAGQGVSQTLRAMAGGPTSDISTGSSVGYPDFPTSPGSWLDEMDHPPF
uniprot
proteins
disease_involvement
DISEASE: Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. {ECO:0000269|PubMed:17527005, ECO:0000269|PubMed:18073311}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia. Translocation t(1;14)(q25;q32) with IGHG1. {ECO:0000269|PubMed:11567216}.
uniprot
proteins
function
FUNCTION: May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA (PubMed:28473536). {ECO:0000250, ECO:0000269|PubMed:28473536}.
uniprot
proteins
mass_dalton
43124
uniprot
proteins
pubmed
11567216
uniprot
proteins
pubmed
12118377
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17527005
uniprot
proteins
pubmed
18073311
uniprot
proteins
pubmed
28473536
uniprot
proteins
sequence_length
390
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins