Property Summary

NCBI Gene PubMed Count 6
PubMed Score 3.01
PubTator Score 5.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
psoriasis 6685 5.92120621698782E-5
Disease Target Count Z-score Confidence
Congenital nystagmus 26 4.237 2.1
Achromatopsia 14 3.741 1.9
Aniridia 26 3.333 1.7
Disease Target Count
Foveal hypoplasia 2 1

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.700 0.000

Synonym

Accession A6NNN8
Symbols FVH2

Gene

PANTHER Protein Class (2)

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG
Xenopus OMA EggNOG

Gene RIF (4)

PMID Text
24290379 Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
24289273 Study found that SNP rs9931086 in the SLC38A8 gene and genes CTLA-4, HDAC, and PPAR-alpha, which are involved in inflammatory processes, may modify the effects of occupational exposure on lung function.
24045842 Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MEGQTPGSRGLPEKPHPATAAATLSSMGAVFILMKSALGAGLLNFPWAFSKAGGVVPAFLVELVSLVFLI      1 - 70
SGLVILGYAAAVSGQATYQGVVRGLCGPAIGKLCEACFLLNLLMISVAFLRVIGDQLEKLCDSLLSGTPP     71 - 140
APQPWYADQRFTLPLLSVLVILPLSAPREIAFQKYTSILGTLAACYLALVITVQYYLWPQGLVRESHPSL    141 - 210
SPASWTSVFSVFPTICFGFQCHEAAVSIYCSMRKRSLSHWALVSVLSLLACCLIYSLTGVYGFLTFGTEV    211 - 280
SADVLMSYPGNDMVIIVARVLFAVSIVTVYPIVLFLGRSVMQDFWRRSCLGGWGPSALADPSGLWVRMPL    281 - 350
TILWVTVTLAMALFMPDLSEIVSIIGGISSFFIFIFPGLCLICAMGVEPIGPRVKCCLEVWGVVSVLVGT    351 - 420
FIFGQSTAAAVWEMF                                                           421 - 435
//

Text Mined References (7)

PMID Year Title
24290379 2013 Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
24289273 2013 Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study.
24045842 2014 Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
23213074 2013 Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
11181995 2001 The sequence of the human genome.