GSC

Protein identityUniProt · HPA

UniProt accession

P56915

Gene

GSC

Ensembl

ENSG00000133937

Chromosome

14

Canonical length

257 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

257 residues, UniProt reviewed canonical sequence.

>P56915|GSC
     1  MPASMFSIDN ILAARPRCKD SVLPVAHSAA APVVFPALHG DSLYGASGGA SSDYGAFYPR
    61  PVAPGGAGLP AAVSGSRLGY NNYFYGQLHV QAAPVGPACC GAVPPLGAQQ CSCVPTPPGY
   121  EGPGSVLVSP VPHQMLPYMN VGTLSRTELQ LLNQLHCRRK RRHRTIFTDE QLEALENLFQ
   181  ETKYPDVGTR EQLARKVHLR EEKVEVWFKN RRAKWRRQKR SSSEESENAE KWNKTSSSKA
   241  SPEKREEEGK SDLDSDS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

7.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GSC.

Disease | AllUniProt

Conditions GSC is implicated in, by any mechanism.

• Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) MIM:602471

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 120 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0.01

gnomAD missense Z

0.92

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dorsal/ventral neural tube patterning
• embryonic skeletal system morphogenesis
• forebrain development
• gastrulation
• middle ear morphogenesis
• muscle organ morphogenesis
• negative regulation of Wnt signaling pathway
• neural crest cell fate specification
• regulation of transcription by RNA polymerase II
• signal transduction involved in regulation of gene expression
• Wnt signaling pathway

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Goosecoid-like homeobox
• Homeodomain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Dwarfism
• Homeobox
• Nucleus