GSC

Chr 14q32.13

goosecoid homeobox

Aliases:: GSC1
MANE:: ENST00000238558.5

OMIM: 138890 ↗NCBI: 145258 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GSC · P56915

v62025-08-01

Predicted Aligned Error matrix for GSC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

257 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)11%
Low(50–70)38%
Very low(< 50)31%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Deafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
0.75
neurodegenerative disease
0.52
cleft palate
0.28
smoking initiation
0.28
cleft lip
0.28
androgenetic alopecia
0.26
hypertrophic cardiomyopathy
0.25
alcohol drinking
0.21
urolithiasis
0.21
preeclampsia
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Homeobox protein goosecoid

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