SH3TC2

Chr 5q32

SH3 domain and tetratricopeptide repeats 2

Aliases:: KIAA1985, CMT4C
MANE:: ENST00000515425.6

OMIM: 608206 ↗NCBI: 79628 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SH3TC2 · Q8TF17

v62025-08-01

Predicted Aligned Error matrix for SH3TC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.2/ 100

Confident

1,288 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)51%
Low(50–70)9%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 4C
0.80
carpal tunnel syndrome
0.60
Charcot-Marie-Tooth disease type 4
0.56
Charcot-Marie-Tooth disease
0.56
hereditary disease
0.52
peripheral neuropathy
0.49
Tip-toe gait
0.48
hypertensive disorder
0.46
essential hypertension
0.36
Increased blood pressure
0.35

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

Protein function (UniProt)

SH3 domain and tetratricopeptide repeat-containing protein 2

Is involved in nerve myelination and is required for the integrity of nodes of Ranvier (By similarity). It probably functions as a Rab effector in the regulation of endocytic recycling (PubMed:20028792, PubMed:20826437)