GSC
entrez
145258
canonical
uniprot
P56915
canonical
ensembl
ENSG00000133937
resolver
ensp
ENSP00000238558
resolver
enst
ENST00000238558
resolver
genesymbol
GSC
resolver
hgnc
HGNC:4612
resolver
uniprot
Q86YR1
resolver
uniprot_entry
GSC_HUMAN
resolver
uniprot_sec
Q86YR1
resolver
amino_acid_sequence
MPASMFSIDNILAARPRCKDSVLPVAHSAAAPVVFPALHGDSLYGASGGASSDYGAFYPRPVAPGGAGLPAAVSGSRLGYNNYFYGQLHVQAAPVGPACCGAVPPLGAQQCSCVPTPPGYEGPGSVLVSPVPHQMLPYMNVGTLSRTELQLLNQLHCRRKRRHRTIFTDEQLEALENLFQETKYPDVGTREQLARKVHLREEKVEVWFKNRRAKWRRQKRSSSEESENAEKWNKTSSSKASPEKREEEGKSDLDSDS
uniprot
proteins
disease_involvement
DISEASE: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) [MIM:602471]: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes. {ECO:0000269|PubMed:24290375}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals. {ECO:0000250, ECO:0000269|PubMed:24290375}.
uniprot
proteins
mass_dalton
28150
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24290375
uniprot
proteins
pubmed
7916327
uniprot
proteins
sequence_length
257
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins