Property Summary

NCBI Gene PubMed Count 27
PubMed Score 288.16
PubTator Score 42.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
psoriasis 6685 1.46516999559999E-40
posterior fossa group A ependymoma 1511 1.16237352145382E-8
glioblastoma multiforme 347 1.36303276120979E-7
pancreatic cancer 2300 6.21888448893315E-6
astrocytoma 1493 1.25881989056478E-5
lung adenocarcinoma 2714 3.55359265568404E-5
atypical teratoid/rhabdoid tumor 1095 4.03303769032426E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 3.82745135429402E-4
oligodendroglioma 2849 8.46478439446555E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00116874854418146
medulloblastoma, large-cell 6234 0.00118759030274157
primitive neuroectodermal tumor 3031 0.00120865497167231
subependymal giant cell astrocytoma 2287 0.0012785725811566
pediatric high grade glioma 2712 0.00146170856233199
group 3 medulloblastoma 2254 0.00173390225667975
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00222947273783326
interstitial cystitis 2299 0.00321729268542698
ductal carcinoma in situ 1745 0.00812523451203208
invasive ductal carcinoma 2950 0.0190028097773893
esophageal adenocarcinoma 737 0.0265992625075337
Pick disease 1893 0.0358885587182917
gastric carcinoma 832 0.0436929243350011
progressive supranuclear palsy 674 0.0472171111429626
primary pancreatic ductal adenocarcinoma 1271 0.0488810471327982

Expression

Synonym

Accession Q7L5A8 B7Z8T6 O75213 Q96DK1 Q9H1A5
Symbols FAAH
FAH1
SCS7
SPG35
FAXDC1

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (17)

PMID Text
25496456 Novel mutations in FA2H in Arab patients with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis were identified.
25291031 Induced levels of PPARalpha may be involved in the Delta(9)-THC up-regulation of FA2H in MDA-MB-231 cells.
24359114 Three novel mutations in Chinese patients significantly reduce FA2H enzyme activity leading to hereditary spastic paraplegia.
24299421 One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions.
23566484 Identification of a novel triple heterozygous mutations in FA2H gene (c.968C>A; c.976G>A; c.688G>A) in a Chinese family with Hereditary Spastic Paraplegia Type 35.
23535410 FA2H is a novel (9)-THC-regulated gene, and that (9)-THC induces differentiation signal(s) in poorly differentiated MDA-MB-231 cells.
22925154 we report a novel mutation in FA2H gene in two sibs presenting with adult onset complicated spastic paraparesis and thin corpus callosum
22704260 This study did not find any mutations in the FA2H gene in patients with neurodegeneration with brain iron accumulation.
21599921 The 2-hydroxylated sphingomyelin (SM) profiles were characterized in blood and fibroblasts from patients harboring a deleterious FA2H mutation.
21592092 a novel homozygous c.270+3A>T mutation altered FA2H function led to a severe phenotype, with clinical features overlapping those in three FA2H-associated disorders
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AA Sequence

MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISADLDGPPHRHS      1 - 70
ANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEK     71 - 140
YDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFTSFTTEYTVAV    141 - 210
PKSMFPGLFMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLV    211 - 280
IGVFYLCMQLILPEAVGGTVFAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGI    281 - 350
STKLWDYCFHTLTPEKPHLKTQ                                                    351 - 372
//

Text Mined References (27)

PMID Year Title
25496456 2015 Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.
25383866 2014 Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic.
25291031 2014 ?(9)-THC modulation of fatty acid 2-hydroxylase (FA2H) gene expression: possible involvement of induced levels of PPAR? in MDA-MB-231 breast cancer cells.
25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
24359114 2015 SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.
24299421 2013 Heterozygous FA2H mutations in autism spectrum disorders.
23566484 2013 A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.
23535410 2013 Induction of the fatty acid 2-hydroxylase (FA2H) gene by ?(9)-tetrahydrocannabinol in human breast cancer cells.
22925154 2012 Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.
22704260 2012 C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
More...