SOX3
entrez
6658
canonical
uniprot
P41225
canonical
ensembl
ENSG00000134595
resolver
ensp
ENSP00000359567
resolver
enst
ENST00000370536
resolver
genesymbol
SOX3
resolver
hgnc
HGNC:11199
resolver
uniprot
P35714
resolver
uniprot
Q5JWI3
resolver
uniprot
Q9NP49
resolver
uniprot_entry
SOX3_HUMAN
resolver
uniprot_sec
P35714
resolver
uniprot_sec
Q5JWI3
resolver
uniprot_sec
Q9NP49
resolver
amino_acid_sequence
MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAPTESQGLFTVAAPAPGAPSPPATLAHLLPAPAMYSLLETELKNPVGTPTQAAGTGGPAAPGGAGKSSANAAGGANSGGGSSGGASGGGGGTDQDRVKRPMNAFMVWSRGQRRKMALENPKMHNSEISKRLGADWKLLTDAEKRPFIDEAKRLRAVHMKEYPDYKYRPRRKTKTLLKKDKYSLPSGLLPPGAAAAAAAAAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQEQLGYAQPPSMSSPPPPPALPPMHRYDMAGLQYSPMMPPGAQSYMNVAAAAAAASGYGGMAPSATAAAAAAYGQQPATAAAAAAAAAAMSLGPMGSVVKSEPSSPPPAIASHSQRACLGDLRDMISMYLPPGGDAADAASPLPGGRLHGVHQHYQGAGTAVNGTVPLTHI
uniprot
proteins
disease_involvement
DISEASE: Panhypopituitarism X-linked (PHPX) [MIM:312000]: Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. {ECO:0000269|PubMed:15800844}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency (MRXGH) [MIM:300123]: A disorder characterized by the association of variable degrees of intellectual disability with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency. {ECO:0000269|PubMed:12428212}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 46,XX sex reversal 3 (SRXX3) [MIM:300833]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269|PubMed:21183788}. Note=The disease is caused by variants affecting the gene represented in this entry. Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.; DISEASE: Hypoparathyroidism, X-linked (HYPX) [MIM:307700]: An X-linked form of true hypoparathyroidism characterized by neonatal or infantile onset and absence of parathyroid glands. Clinical features are hypocalcemia, hyperphosphatemia, seizures, tetany and cramps. {ECO:0000269|PubMed:16167084}. Note=The gene represented in this entry may be involved in disease pathogenesis. A disease causing, complex chromosomal rearrangement [del(X)(q27.1)inv ins(X;2)(q27.1;p25.3)] has been found in a family with X-linked hypoparathyroidism. This chromosomal abnormality is located 67 kb downstream of SOX3 and likely results in altered SOX3 expression with pathological consequences. {ECO:0000269|PubMed:16167084}.
uniprot
proteins
function
FUNCTION: Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). {ECO:0000250, ECO:0000269|PubMed:21183788}.
uniprot
proteins
mass_dalton
45210
uniprot
proteins
pubmed
12428212
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15800844
uniprot
proteins
pubmed
1614875
uniprot
proteins
pubmed
16167084
uniprot
proteins
pubmed
21183788
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
34342803
uniprot
proteins
pubmed
8111369
uniprot
proteins
sequence_length
446
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins