SHOX
entrez
6473
canonical
uniprot
O15266
canonical
ensembl
ENSG00000185960
resolver
ensembl
ENSG00000292354
resolver
ensp
ENSP00000335505
resolver
ensp
ENSP00000508521
resolver
ensp
ENSP00000642736
resolver
ensp
ENSP00000642788
resolver
genesymbol
SHOX
resolver
genesymbol_syn
PHOG
resolver
hgnc
HGNC:10853
resolver
uniprot
O00412
resolver
uniprot
O00413
resolver
uniprot
O15267
resolver
uniprot_entry
SHOX_HUMAN
resolver
uniprot_sec
O00412
resolver
uniprot_sec
O00413
resolver
uniprot_sec
O15267
resolver
amino_acid_sequence
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
uniprot
proteins
disease_involvement
DISEASE: Leri-Weill dyschondrosteosis (LWD) [MIM:127300]: Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. {ECO:0000269|PubMed:11030412, ECO:0000269|PubMed:11403039, ECO:0000269|PubMed:15173249, ECO:0000269|PubMed:15173321, ECO:0000269|PubMed:15931687, ECO:0000269|PubMed:17881654}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Langer mesomelic dysplasia (LMD) [MIM:249700]: Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. {ECO:0000269|PubMed:11889214}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Short stature, idiopathic, X-linked (ISS) [MIM:300582]: A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders. {ECO:0000269|PubMed:15931687, ECO:0000269|PubMed:9140395}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that controls fundamental aspects of growth. Directly activates NPPB transcription in osteogenic cells (PubMed:11751690, PubMed:17881654). Preferentially binds DNA elements with the sequence 5'-TAATNNNATTA-3', possibly as a homodimer (PubMed:11751690). {ECO:0000269|PubMed:11751690, ECO:0000269|PubMed:17881654}.
uniprot
proteins
mass_dalton
32236
uniprot
proteins
mutagenesis
MUTAGEN 106; /note="S->A: Strong decrease in transcriptional activity."; /evidence="ECO:0000269|PubMed:17881654"; MUTAGEN 194..292; /note="Missing: Loss of transcriptional activity. No effect on nuclear localization."; /evidence="ECO:0000269|PubMed:11751690"; MUTAGEN 271..292; /note="Missing: Decreased transcriptional activity."; /evidence="ECO:0000269|PubMed:11751690
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10749976
uniprot
proteins
pubmed
11030412
uniprot
proteins
pubmed
11403039
uniprot
proteins
pubmed
11751690
uniprot
proteins
pubmed
11889214
uniprot
proteins
pubmed
11891678
uniprot
proteins
pubmed
15173249
uniprot
proteins
pubmed
15173321
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15931687
uniprot
proteins
pubmed
17881654
uniprot
proteins
pubmed
38580675
uniprot
proteins
pubmed
40388606
uniprot
proteins
pubmed
9140395
uniprot
proteins
pubmed
9259282
uniprot
proteins
sequence_length
292
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11751690, ECO:0000269|PubMed:15173249, ECO:0000269|PubMed:15173321}.
uniprot
proteins