ANKRD17

Chr 4q13.3

ankyrin repeat domain 17

Aliases:: GTAR, KIAA0697, FLJ22206, NY-BR-16, MASK2
MANE:: ENST00000358602.9

OMIM: 615929 ↗NCBI: 26057 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ANKRD17 · O75179

v62025-08-01

Predicted Aligned Error matrix for ANKRD17 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

53.4/ 100

Low

2,603 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)17%
Low(50–70)4%
Very low(< 50)58%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Chopra-Amiel-Gordon syndrome
0.78
neurodegenerative disease
0.55
hereditary disease
0.52
neurodevelopmental disorder
0.37
complex neurodevelopmental disorder
0.37
syndromic complex neurodevelopmental disorder
0.37
atrial fibrillation
0.34
lip and oral cavity carcinoma
0.34
placenta praevia
0.32
Intellectual disability
0.27

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

Protein function (UniProt)

Ankyrin repeat domain-containing protein 17

Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity)