SLC38A8 (solute carrier family 38 member 8)

2014-11-01  

Identity

HGNC
SLC38A8
LOCATION
16q23.3
LOCUSID
146167
ALIAS
FVH2

Other Information

Locus ID:

NCBI: 146167
MIM: 615585
HGNC: 32434
Ensembl: ENSG00000166558

Variants:

dbSNP: 146167
ClinVar: 146167
TCGA: ENSG00000166558
COSMIC: SLC38A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166558ENST00000299709A6NNN8
ENSG00000166558ENST00000568178H3BUP5
ENSG00000166558ENST00000569816H3BP02

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
350296362022The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.6
350296362022The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.6
334988132021Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.7
335949282021Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.2
334988132021Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.7
335949282021Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.2
320326262020The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.7
327443122020SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.18
320326262020The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.7
327443122020SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.18
240458422014Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.22
240458422014Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.22
242892732013Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study.11
242903792013Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.31
242892732013Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study.11

Citation

Dessen P

SLC38A8 (solute carrier family 38 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73428