Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79152
Gene name	Fatty acid 2-hydroxylase
Gene symbol	FA2H
Synonyms (NCBI Gene)	FAAHFAH1FAXDC1SCS7SPG35
Chromosome	16
Chromosome location	16q23.1
Summary	This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification o

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918217	C>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs147632811	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199815871	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs372350326	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387907039	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387907040	G>A	Pathogenic	Missense variant, coding sequence variant
rs387907172	A>G	Pathogenic	Missense variant, coding sequence variant
rs587776891	GT>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs758814013	T>A,C	Likely-pathogenic	Genic downstream transcript variant, terminator codon variant, stop lost
rs759947457	ATGTCCTGGCCCGCCCTG>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant
rs761645282	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs765086319	G>A	Pathogenic	Coding sequence variant, stop gained
rs774131656	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs794729214	CCTGGCCCGC>-,CCTGGCCCGCCCTGGCCCGC	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs794729215	G>A,C,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, synonymous variant
rs863224870	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs878855081	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs878855083	AG>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs957683798	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1057518032	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1247665387	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1268722908	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1274600570	C>A,G,T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1308764899	A>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs1567632441	C>T	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1567633766	C>T	Pathogenic	Splice donor variant
rs1597556143	AGGTACCTTGTCCCAATCCACCACTTTGAACC>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1597577795	->C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

133

Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734936	hsa-miR-300	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	33344772
MIRT974782	hsa-miR-1205	CLIP-seq
MIRT974783	hsa-miR-1207-5p	CLIP-seq
MIRT974784	hsa-miR-1297	CLIP-seq
MIRT974785	hsa-miR-1908	CLIP-seq
MIRT974786	hsa-miR-1909	CLIP-seq
MIRT974787	hsa-miR-2110	CLIP-seq
MIRT974788	hsa-miR-26a	CLIP-seq
MIRT974789	hsa-miR-26b	CLIP-seq
MIRT974790	hsa-miR-299-5p	CLIP-seq
MIRT974791	hsa-miR-3126-3p	CLIP-seq
MIRT974792	hsa-miR-3149	CLIP-seq
MIRT974793	hsa-miR-3150a-3p	CLIP-seq
MIRT974794	hsa-miR-3151	CLIP-seq
MIRT974795	hsa-miR-3154	CLIP-seq
MIRT974796	hsa-miR-3165	CLIP-seq
MIRT974797	hsa-miR-3175	CLIP-seq
MIRT974798	hsa-miR-3179	CLIP-seq
MIRT974799	hsa-miR-3185	CLIP-seq
MIRT974800	hsa-miR-3189-3p	CLIP-seq
MIRT974801	hsa-miR-3202	CLIP-seq
MIRT974802	hsa-miR-340	CLIP-seq
MIRT974803	hsa-miR-3614-5p	CLIP-seq
MIRT974804	hsa-miR-3656	CLIP-seq
MIRT974805	hsa-miR-3667-5p	CLIP-seq
MIRT974806	hsa-miR-3687	CLIP-seq
MIRT974807	hsa-miR-381	CLIP-seq
MIRT974808	hsa-miR-3918	CLIP-seq
MIRT974809	hsa-miR-3929	CLIP-seq
MIRT974810	hsa-miR-4252	CLIP-seq
MIRT974811	hsa-miR-4265	CLIP-seq
MIRT974812	hsa-miR-4283	CLIP-seq
MIRT974813	hsa-miR-4287	CLIP-seq
MIRT974814	hsa-miR-4296	CLIP-seq
MIRT974815	hsa-miR-4322	CLIP-seq
MIRT974816	hsa-miR-4419b	CLIP-seq
MIRT974817	hsa-miR-4427	CLIP-seq
MIRT974818	hsa-miR-4434	CLIP-seq
MIRT974819	hsa-miR-4442	CLIP-seq
MIRT974820	hsa-miR-4447	CLIP-seq
MIRT974821	hsa-miR-4456	CLIP-seq
MIRT974822	hsa-miR-4465	CLIP-seq
MIRT974823	hsa-miR-4472	CLIP-seq
MIRT974824	hsa-miR-4478	CLIP-seq
MIRT974825	hsa-miR-4489	CLIP-seq
MIRT974826	hsa-miR-4506	CLIP-seq
MIRT974827	hsa-miR-4516	CLIP-seq
MIRT974828	hsa-miR-4531	CLIP-seq
MIRT974829	hsa-miR-4640-5p	CLIP-seq
MIRT974830	hsa-miR-4666-3p	CLIP-seq
MIRT974831	hsa-miR-4680-3p	CLIP-seq
MIRT974832	hsa-miR-4685-3p	CLIP-seq
MIRT974833	hsa-miR-4690-3p	CLIP-seq
MIRT974834	hsa-miR-4726-5p	CLIP-seq
MIRT974835	hsa-miR-4743	CLIP-seq
MIRT974836	hsa-miR-4747-5p	CLIP-seq
MIRT974837	hsa-miR-4763-3p	CLIP-seq
MIRT974838	hsa-miR-4780	CLIP-seq
MIRT974839	hsa-miR-4790-3p	CLIP-seq
MIRT974840	hsa-miR-4795-5p	CLIP-seq
MIRT974841	hsa-miR-498	CLIP-seq
MIRT974842	hsa-miR-513b	CLIP-seq
MIRT974843	hsa-miR-555	CLIP-seq
MIRT974844	hsa-miR-568	CLIP-seq
MIRT974845	hsa-miR-615-5p	CLIP-seq
MIRT974846	hsa-miR-623	CLIP-seq
MIRT974847	hsa-miR-645	CLIP-seq
MIRT974848	hsa-miR-663	CLIP-seq
MIRT974849	hsa-miR-665	CLIP-seq
MIRT974850	hsa-miR-939	CLIP-seq
MIRT974783	hsa-miR-1207-5p	CLIP-seq
MIRT974784	hsa-miR-1297	CLIP-seq
MIRT1988815	hsa-miR-1299	CLIP-seq
MIRT1988816	hsa-miR-1827	CLIP-seq
MIRT974786	hsa-miR-1909	CLIP-seq
MIRT1988817	hsa-miR-2355-5p	CLIP-seq
MIRT974788	hsa-miR-26a	CLIP-seq
MIRT974789	hsa-miR-26b	CLIP-seq
MIRT1988818	hsa-miR-296-5p	CLIP-seq
MIRT1988819	hsa-miR-31	CLIP-seq
MIRT1988820	hsa-miR-3126-5p	CLIP-seq
MIRT974792	hsa-miR-3149	CLIP-seq
MIRT1988821	hsa-miR-3612	CLIP-seq
MIRT1988822	hsa-miR-3614-3p	CLIP-seq
MIRT974803	hsa-miR-3614-5p	CLIP-seq
MIRT1988823	hsa-miR-3914	CLIP-seq
MIRT974808	hsa-miR-3918	CLIP-seq
MIRT974810	hsa-miR-4252	CLIP-seq
MIRT974811	hsa-miR-4265	CLIP-seq
MIRT974814	hsa-miR-4296	CLIP-seq
MIRT974815	hsa-miR-4322	CLIP-seq
MIRT1988824	hsa-miR-4443	CLIP-seq
MIRT1988825	hsa-miR-4459	CLIP-seq
MIRT974822	hsa-miR-4465	CLIP-seq
MIRT1988826	hsa-miR-4722-3p	CLIP-seq
MIRT1988827	hsa-miR-4728-5p	CLIP-seq
MIRT1988828	hsa-miR-4753-3p	CLIP-seq
MIRT974837	hsa-miR-4763-3p	CLIP-seq
MIRT1988829	hsa-miR-4782-5p	CLIP-seq
MIRT974841	hsa-miR-498	CLIP-seq
MIRT1988830	hsa-miR-516b	CLIP-seq
MIRT1988831	hsa-miR-548al	CLIP-seq
MIRT974844	hsa-miR-568	CLIP-seq
MIRT1988832	hsa-miR-624	CLIP-seq
MIRT974847	hsa-miR-645	CLIP-seq
MIRT1988833	hsa-miR-650	CLIP-seq
MIRT1988834	hsa-miR-940	CLIP-seq
MIRT1988835	hsa-miR-942	CLIP-seq
MIRT2223203	hsa-miR-101	CLIP-seq
MIRT974783	hsa-miR-1207-5p	CLIP-seq
MIRT1988816	hsa-miR-1827	CLIP-seq
MIRT974786	hsa-miR-1909	CLIP-seq
MIRT974800	hsa-miR-3189-3p	CLIP-seq
MIRT2223204	hsa-miR-3192	CLIP-seq
MIRT1988821	hsa-miR-3612	CLIP-seq
MIRT2223205	hsa-miR-3689a-3p	CLIP-seq
MIRT2223206	hsa-miR-3689c	CLIP-seq
MIRT2223207	hsa-miR-3689d	CLIP-seq
MIRT2223208	hsa-miR-4261	CLIP-seq
MIRT2223209	hsa-miR-4457	CLIP-seq
MIRT1988825	hsa-miR-4459	CLIP-seq
MIRT2223210	hsa-miR-4496	CLIP-seq
MIRT2223211	hsa-miR-4505	CLIP-seq
MIRT2223212	hsa-miR-4716-3p	CLIP-seq
MIRT2223213	hsa-miR-4723-5p	CLIP-seq
MIRT1988827	hsa-miR-4728-5p	CLIP-seq
MIRT974837	hsa-miR-4763-3p	CLIP-seq
MIRT2223214	hsa-miR-485-5p	CLIP-seq
MIRT974842	hsa-miR-513b	CLIP-seq
MIRT1988832	hsa-miR-624	CLIP-seq
MIRT1988833	hsa-miR-650	CLIP-seq
MIRT2223215	hsa-miR-658	CLIP-seq
MIRT1988834	hsa-miR-940	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001949	Process	Sebaceous gland cell differentiation	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006679	Process	Glucosylceramide biosynthetic process	IEA
GO:0006679	Process	Glucosylceramide biosynthetic process	ISS
GO:0006682	Process	Galactosylceramide biosynthetic process	IEA
GO:0006682	Process	Galactosylceramide biosynthetic process	ISS
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IDA	15337768
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0030258	Process	Lipid modification	IEA
GO:0032286	Process	Central nervous system myelin maintenance	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0042634	Process	Regulation of hair cycle	IEA
GO:0044857	Process	Plasma membrane raft organization	IEA
GO:0044857	Process	Plasma membrane raft organization	ISS
GO:0046513	Process	Ceramide biosynthetic process	IDA	15337768
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061436	Process	Establishment of skin barrier	IMP	17355976
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IBA
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IDA	15337768, 15863841, 22517924
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IEA
GO:0080132	Function	Fatty acid 2-hydroxylase activity	IMP	17355976
GO:0080132	Function	Fatty acid 2-hydroxylase activity	TAS
GO:0120520	Function	Free fatty acid 2-hydroxylase activity	IDA	15337768
GO:0120520	Function	Free fatty acid 2-hydroxylase activity	IEA
GO:0120521	Function	4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity	IDA	22517924
GO:1904002	Process	Regulation of sebum secreting cell proliferation	IEA
GO:1904697	Process	Regulation of acinar cell proliferation	IEA

MIM	HGNC	e!Ensembl
611026	21197	ENSG00000103089

Q7L5A8

Protein name

Fatty acid 2-hydroxylase (EC 1.14.18.-) (Fatty acid alpha-hydroxylase) (Fatty acid hydroxylase domain-containing protein 1)

Protein function

Catalyzes the hydroxylation of free fatty acids at the C-2 position to produce 2-hydroxy fatty acids, which are building blocks of sphingolipids and glycosphingolipids common in neural tissue and epidermis (PubMed:15337768, PubMed:15863841, PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00173	Cyt-b5	12 → 86	Cytochrome b5-like Heme/Steroid binding domain	Domain
PF04116	FA_hydroxylase	219 → 361	Fatty acid hydroxylase superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and

Sequence

MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA
DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD
KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV
LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM
KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH
TLTPEKPHLKTQ

Sequence length

372

Interactions

View interactions

	Reactome
			Sphingolipid de novo biosynthesis

423

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar atrophy	Likely pathogenic	rs1308764899	RCV001003615
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs1225330805, rs765086319, rs372445274	RCV001848434 RCV001847847 RCV001195534
Hereditary spastic paraplegia 35	Likely pathogenic; Pathogenic	rs1210045384, rs1961700181, rs771402018, rs2144606157, rs2144672539, rs1962978958, rs1567633766, rs2144672568, rs753097023, rs2544316692, rs2544316320, rs765086319, rs863224870, rs555874983, rs1567632441 View all (16 more)	RCV005014392 RCV001780261 RCV001542492 RCV001542493 RCV001580616 RCV003989725 RCV000001098 RCV002246191 RCV002249972 RCV002284305 RCV002468706 RCV002470808 RCV000199368 RCV003388183 RCV003335824 RCV003405002 RCV003448934 RCV000023856 RCV000023858 RCV005018763 RCV000024321 RCV003155224 RCV000578281 RCV000786060 RCV000786061 RCV000989633 RCV000989634 RCV001542494 RCV001250165 RCV003223418 RCV001391537 RCV001391535
Neurodegeneration with brain iron accumulation	Likely pathogenic; Pathogenic	rs372350326, rs915291720	RCV004579546 RCV002265790
See cases	Likely pathogenic	rs2144617577	RCV002253077
Spastic paraplegia	Likely pathogenic; Pathogenic	rs1961700181, rs1962978296, rs2144617221, rs1962978958, rs2144672293, rs753097023, rs2544384008, rs2544312267, rs794729215, rs794729214, rs2544327623, rs878855083, rs763075924, rs2544384375, rs2544327628 View all (11 more)	RCV001345650 RCV001387014 RCV001936694 RCV001880791 RCV001974657 RCV003094027 RCV003064356 RCV003065571 RCV002624250 RCV001387013 RCV001854843 RCV002710881 RCV000225829 RCV003590622 RCV003750329 RCV003751332 RCV002513206 RCV002513208 RCV000466731 RCV005091208 RCV000539908 RCV000555976 RCV002549731 RCV001859178 RCV001219726 RCV001205551 RCV001245364
Tip-toe gait	Likely pathogenic	rs1308764899	RCV001003615

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs7184172	RCV005894541
FA2H-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs1400863649, rs766614299, rs541507213, rs771402018, rs780860426	RCV003927189 RCV003969365 RCV003955578 RCV003908237 RCV003895761
Familial cancer of breast	Benign	rs929881	RCV005888077
Intellectual disability	Conflicting classifications of pathogenicity	rs387907039	RCV005624706
Spastic ataxia	Conflicting classifications of pathogenicity	rs373010581	RCV001644956
Thymoma	Benign	rs7184172	RCV005894542
Uterine corpus endometrial carcinoma	Benign	rs7184172	RCV005894543

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	31409741
Adenocarcinoma of Lung	Associate	31409741, 37643778
Alzheimer Disease	Associate	32639640
Ataxia	Associate	31135052, 38275596
Breast Neoplasms	Associate	23535410, 25291031
Cerebellar Ataxia	Associate	31135052
Chromosome 16 uniparental disomy	Associate	27316240
Cognition Disorders	Associate	19068277, 21592092, 31135052, 38275596
Cognition Disorders	Stimulate	31135052
Death	Associate	36109173
Deglutition Disorders	Associate	31135052
Dermatitis Atopic	Associate	31596431
Dysarthria	Associate	31135052
Dystonia	Associate	19068277, 20853438, 21592092, 38275596
Eczema	Associate	31596431
Encephalopathy Spastic Tetraparesis and Hypogonadism	Stimulate	31135052
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	31135052
Exotropia	Stimulate	31135052
Exotropia	Associate	38275596
Fatty Acid Hydroxylase Associated Neurodegeneration	Associate	21592092, 27316240, 29376581, 31087769, 31135052, 35843022, 37573804, 38275596
Fatty Acid Hydroxylase Associated Neurodegeneration	Inhibit	22146942, 31135052
Gait Disorders Neurologic	Associate	38275596
Hyperkeratosis Epidermolytic	Inhibit	35421402
Leukodystrophy Metachromatic	Associate	19068277, 20853438, 21592092, 31135052
Leukoencephalopathies	Associate	19068277, 21592092
Lung Neoplasms	Associate	31409741
Movement Disorders	Associate	31135052
Mucopolysaccharidoses Unclassified Types	Associate	19068277
Muscle Cramp	Associate	38275596
Muscle Spasticity	Associate	19068277
Neurodegenerative Diseases	Associate	21592092, 21599921, 38275596
Neuroferritinopathy	Associate	35180557
Neurologic Manifestations	Associate	20853438, 38275596
Olivopontocerebellar Atrophies	Associate	31135052
Pantothenate Kinase Associated Neurodegeneration	Associate	20853438, 28821231, 39419454
Paraparesis Spastic	Associate	19068277, 21592092
Paraplegia	Associate	21592092, 27217339, 29376581
Parkinson Disease	Associate	27217339
Peripheral Nervous System Diseases	Associate	26556829
Pneumonia Lipid	Inhibit	19068277
Pontocerebellar Hypoplasia Type 1	Associate	20853438
Pruritus	Associate	31596431
Quadriplegia	Associate	20853438
Spastic Paraplegia Hereditary	Associate	20853438, 26556829, 27316240, 29376581, 29980238, 31087769, 36109173, 39304850
Spinal Cord Diseases	Associate	21592092
Spinocerebellar Degenerations	Associate	37510308, 39304850
Uniparental Disomy	Associate	27316240

FA2H (fatty acid 2-hydroxylase)