GSC2

Protein identityUniProt · HPA

UniProt accession

O15499

Gene

GSC2

Ensembl

ENSG00000063515

Chromosome

22

Canonical length

205 aa

Protein class

Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

205 residues, UniProt reviewed canonical sequence.

>O15499|GSC2
     1  MAAAAGGAAS RRGAGRPCPF SIEHILSSLP ERSLPARAAC PPQPAGRQSP AKPEEPGAPE
    61  AAPCACCCCC GPRAAPCGPP EAAAGLGARL AWPLRLGPAV PLSLGAPAGG SGALPGAVGP
   121  GSQRRTRRHR TIFSEEQLQA LEALFVQNQY PDVSTRERLA GRIRLREERV EVWFKNRRAK
   181  WRHQKRASAS ARLLPGVKKS PKGSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSC2 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

3.5 nTPM

Expression across tissuesHPA

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)

1.91

gnomAD pLI

0

gnomAD missense Z

-0.55

DepMap mean gene effect

-0.06

DepMap dependency class

selective

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

• anatomical structure morphogenesis
• regulation of transcription by RNA polymerase II

Molecular functions

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

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• DNA-binding
• Homeobox
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of GSC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNF4