FA2H fatty acid 2-hydroxylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: FA2Hprovided by HGNC
Official Full Name: fatty acid 2-hydroxylaseprovided by HGNC
Primary source: HGNC:HGNC:21197
See related: Ensembl:ENSG00000103089 MIM:611026; AllianceGenome:HGNC:21197
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FAAH; FAH1; SCS7; SPG35; FAXDC1
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 of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
Expression: Biased expression in stomach (RPKM 14.4), brain (RPKM 8.1) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (74712969..74774820, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (80759709..80821550, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (74746867..74808718, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Title: A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Title: The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
Title: Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Title: Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
Title: Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
Title: 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
Title: Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma
Title: High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
Hereditary spastic paraplegia type 35 caused by the FA2H mutation in a family from Mali has been described.
Title: Hereditary spastic paraplegia type 35 in a family from Mali.
Study reports the clinical, neuroimaging, biochemical, and molecular findings in three novel unrelated patients with new mutations in FA2H, comparing their features with those previously reported in autosomal recessive spastic paraplegia 35 (SPG35).
Title: Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 35 MedGen: C3496228 OMIM: 612319 GeneReviews: Fatty Acid Hydroxylase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation Disorders Overview	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S2953 (e-PCR)
- UniSTS:83281

D16S430E (e-PCR)
- UniSTS:147345

SHGC-8141 (e-PCR)
- UniSTS:24537

RH65017 (e-PCR)
- UniSTS:89080

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid 2-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid 2-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid 2-hydroxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables fatty acid 2-hydroxylase activity	TAS Traceable Author Statement more info
enables free fatty acid 2-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in central nervous system myelin maintenance	IEA Inferred from Electronic Annotation more info
involved_in ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in galactosylceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in galactosylceramide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucosylceramide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid modification	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system myelin maintenance	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane raft organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of acinar cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of hair cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of sebum secreting cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in sebaceous gland cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fatty acid 2-hydroxylase

Names: fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1; fatty acid hydroxylase domain-containing protein 1; spastic paraplegia 35 (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017070.1 RefSeqGene

Range

5012..66863

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024306.5 → NP_077282.3 fatty acid 2-hydroxylase

See identical proteins and their annotated locations for NP_077282.3

Status: REVIEWED

Source sequence(s)

BC017049, DA890369

Consensus CDS

CCDS10911.1

UniProtKB/Swiss-Prot

B7Z8T6, O75213, Q7L5A8, Q96DK1, Q9H1A5

Related

ENSP00000219368.3, ENST00000219368.8

Conserved Domains (3) summary

COG3000
Location:210 → 367

ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

pfam00173
Location:15 → 85

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

cl01132
Location:124 → 366

FA_hydroxylase; Fatty acid hydroxylase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

74712969..74774820 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523319.3 → XP_011521621.1 fatty acid 2-hydroxylase isoform X2

UniProtKB/TrEMBL

B2RDE6

Conserved Domains (2) summary

COG3000
Location:130 → 287

ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

cl01132
Location:44 → 286

FA_hydroxylase; Fatty acid hydroxylase superfamily
XM_011523317.4 → XP_011521619.1 fatty acid 2-hydroxylase isoform X1

Conserved Domains (2) summary

pfam00173
Location:15 → 85

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

cl01132
Location:124 → 263

FA_hydroxylase; Fatty acid hydroxylase superfamily