STAR

Chr 8p11.23

steroidogenic acute regulatory protein

Aliases:: STARD1
MANE:: ENST00000276449.9

OMIM: 600617 ↗NCBI: 6770 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

STAR · P49675

v62025-08-01

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

Mean pLDDT

82.6/ 100

Confident

285 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)6%
Low(50–70)8%
Very low(< 50)18%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital lipoid adrenal hyperplasia due to STAR deficency
0.81
syndactyly-telecanthus-anogenital and renal malformations syndrome
0.43
Cytomegalic congenital adrenal hypoplasia
0.38
classic congenital lipoid adrenal hyperplasia due to STAR deficency
0.37
non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
0.37
benign neoplasm of adrenal gland
0.28
hereditary disease
0.19
breast cancer
0.11
breast carcinoma
0.10
polycystic ovary syndrome
0.10

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

Protein function (UniProt)

Guanylyl cyclase C

Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed:11950846, PubMed:1718270, PubMed:22436048, PubMed:22521417, PubMed:23269669). Receptor for the E.coli heat-stable enterotoxin; E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GUCY2C (PubMed:1680854, PubMed:1718270). Also activated by the endogenous peptides guanylin and uroguanylin (PubMed:8381596)