Gene table of FA2H : fatty acid 2-hydroxylase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with FA2H	OMIM link	Number of associated genes	genes
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H

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
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
heme binding	GO:0020037	4.86
tetrapyrrole binding	GO:0046906	4.8
organic cyclic compound binding	GO:0097159	1.05
fatty acid alpha-hydroxylase activity	GO:0080132	9.74
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
iron ion binding	GO:0005506	4.65
metal ion binding	GO:0046872	1.41
heterocyclic compound binding	GO:1901363	1.06
oxidoreductase activity	GO:0016491	3.12