C14orf39

Chr 14q23.1

chromosome 14 open reading frame 39

Aliases:: SIX6OS1
MANE:: ENST00000321731.8

OMIM: 617307 ↗NCBI: 317761 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

C14orf39 · Q8N1H7

v62025-08-01

Predicted Aligned Error matrix for C14orf39 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.0/ 100

Low

587 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)10%
Low(50–70)5%
Very low(< 50)57%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spermatogenic failure 52
0.64
premature ovarian failure 18
0.58
Microphthalmia - cataract
0.48
sclerocornea
0.43
Developmental cataract
0.43
open-angle glaucoma
0.42
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.39
cornea plana
0.34
microphthalmia
0.34
congenital cornea plana
0.34

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

Protein function (UniProt)

Protein SIX6OS1

Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation