Gene table of KPTN : kaptin, actin binding protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KPTN	OMIM link	Number of associated genes	genes
PS249500	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	31	ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
actin binding	GO:0003779	3.74
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
cytoskeletal protein binding	GO:0008092	3.02