FA2H

GENERAL INFORMATION

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Gene name

FA2H

Gene description

Fatty acid 2-hydroxylase

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (stomach)
GTEx:Tissue enhanced (hippocampus, stomach)

Protein evidence

Evidence at protein level

Protein localization

Strong cytoplasmic positivity was displayed in subset of cells in small intestinal glands and squamous epithelia. Exocrine pancreas along with alveolar macrophages were moderately stained. Remaining normal tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA056614
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (stomach)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (hippocampus, stomach)

Organ

Expression



GENE INFORMATION

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Gene name

FA2H (HGNC Symbol)

Synonyms

FAAH, FAXDC1, FLJ25287, SPG35

Description

Fatty acid 2-hydroxylase (HGNC Symbol)

Entrez gene 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]

Chromosome

16

Cytoband

q23.1

Chromosome location (bp)

74712955 - 74774831

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000103089 (version 78.38)

Entrez gene

79152

UniProt

Q7L5A8 (UniProt - Evidence at protein level)

neXtProt

NX_Q7L5A8

Antibodypedia

FA2H antibodies


PROTEIN BROWSER

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ENST00000219368
 
ENST00000569949
 
ENST00000618933
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FA2H-001 ENSP00000219368
ENST00000219368
Q7L5A8
Show all »
Show » Show » 372 42.8 No 4
FA2H-004 ENSP00000464576
ENST00000569949
J3QS89
Show all »
Show » 192 22.6 No 2
FA2H-005 ENSP00000479548
ENST00000618933
Show » 18 1.9 No 0