SH3TC2

SH3 domain and tetratricopeptide repeats 2

2 disorders 1 untyped 1 causative 5q32 gene with protein product

HGNC:29427 Monarch NCBI Gene 79628 ENSG00000169247 UniProt Q8TF17 OMIM 608206

Aliases: KIAA1985, CMT4C.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Charcot-Marie-Tooth Disease Type 4C	causative loss of function	mechanism: Biallelic SH3TC2 Loss of Function
Charcot-Marie-Tooth Disease Type 4	untyped Causal	mechanism: SH3TC2 Endosomal Recycling Defect in Schwann Cells subtype: CMT4C scoped to subtype: CMT4C

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Charcot-Marie-Tooth disease type 4C MONDO:0011113	AR	Definitive 2026-08-08	Charcot-Marie-Tooth Disease Type 4 untyped Charcot-Marie-Tooth Disease Type 4C causative

Mechanism modules · computed from kb/

schwann_cell_myelin_maintenance via Charcot-Marie-Tooth Disease Type 4, Charcot-Marie-Tooth Disease Type 4C

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.