CCDC141

Chr 2q31.2

coiled-coil domain containing 141

Aliases:: FLJ39502, CAMDI
MANE:: ENST00000443758.7

OMIM: 616031 ↗NCBI: 285025 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CCDC141 · Q6ZP82

v62025-08-01

Predicted Aligned Error matrix for CCDC141 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.8/ 100

Confident

1,530 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)53%
Low(50–70)10%
Very low(< 50)20%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Hypogonadotropic hypogonadism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism (GMS)
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

conduction system disorder
0.47
Complete right bundle branch block
0.45
Tachycardia
0.45
atrioventricular block
0.45
artificial cardiac pacemaker
0.44
hypertrophic cardiomyopathy
0.44
bundle branch block
0.39
atrial fibrillation
0.39
heart conduction disease
0.39
Paroxysmal supraventricular tachycardia
0.38

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

Protein function (UniProt)

Coiled-coil domain-containing protein 141

Plays a critical role in cortical radial and GnRH neurons migration during brain development. Regulates cortical radial migration by negatively controlling the activity of histone deacetylase 6 (HDAC6) and promotes centrosome maturation. CAMDI is required for dilation formation of cortical neurons during radial migration. Plays a critical role in learning and memory performance through regulation of AMPA-selective glutamate receptors (AMPARs) cell surface expression in competition with KIBRA