Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	146167
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 38 member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC38A8
Synonyms (NCBI Gene) Gene synonyms aliases	FHASD, FVH2, SNAT8
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino a

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139373929	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs146899328	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs149592537	G>A	Pathogenic	Coding sequence variant, stop gained
rs372929441	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs587777253	A>C	Pathogenic	Missense variant, coding sequence variant
rs587777254	A>T	Pathogenic	Missense variant, coding sequence variant
rs587777255	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777256	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777257	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs756501758	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs760391436	C>T	Likely-pathogenic	Intron variant
rs1057516193	G>C	Likely-pathogenic	Intron variant
rs1057521634	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597273765	AG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence
GO:0003333	Process	Amino acid transmembrane transport	IBA
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006531	Process	Aspartate metabolic process	IEA
GO:0006865	Process	Amino acid transport	IEA
GO:0007601	Process	Visual perception	IEA
GO:0009615	Process	Response to virus	IEA
GO:0015179	Function	L-amino acid transmembrane transporter activity	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019079	Process	Viral genome replication	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0030424	Component	Axon	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:1902475	Process	L-alpha-amino acid transmembrane transport	IEA

MIM	HGNC	e!Ensembl
615585	32434	ENSG00000166558

Protein

UniProt ID

A6NNN8

Protein name

Solute carrier family 38 member 8 (Amino acid transporter SLC38A8)

Protein function

Electrogenic sodium-dependent amino acid transporter with a preference for L-glutamine, L-alanine, L-histidine, L-aspartate and L-arginine. May facilitate glutamine uptake in both excitatory and inhibitory neurons. The transport mechanism and st

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01490	Aa_trans	22 → 431	Transmembrane amino acid transporter protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal and adult brain, and spinal cord. In the brain, it is localized in the cell body and axon of the majority of neuronal cells and in a subset of glial cells. Found throughout the neuronal retina, with higher expression

Sequence

MEGQTPGSRGLPEKPHPATAAATLSSMGAVFILMKSALGAGLLNFPWAFSKAGGVVPAFL
VELVSLVFLISGLVILGYAAAVSGQATYQGVVRGLCGPAIGKLCEACFLLNLLMISVAFL
RVIGDQLEKLCDSLLSGTPPAPQPWYADQRFTLPLLSVLVILPLSAPREIAFQKYTSILG
TLAACYLALVITVQYYLWPQGLVRESHPSLSPASWTSVFSVFPTICFGFQCHEAAVSIYC
SMRKRSLSHWALVSVLSLLACCLIYSLTGVYGFLTFGTEVSADVLMSYPGNDMVIIVARV
LFAVSIVTVYPIVLFLGRSVMQDFWRRSCLGGWGPSALADPSGLWVRMPLTILWVTVTLA
MALFMPDLSEIVSIIGGISSFFIFIFPGLCLICAMGVEPIGPRVKCCLEVWGVVSVLVGT
FIFGQSTAAAVWEMF

Sequence length

435

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Foveal hypoplasia	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis, foveal hypoplasia 2 with optic nerve misrouting and anterior segment dysgenesis, foveal hypoplasia 2 with optic nerve misrouting	rs149592537, rs587777257, rs1057516193, rs1057521634, rs587777253, rs1597273765, rs587777254, rs587777255, rs587777256, rs372929441	N/A
foveal hypoplasia	Foveal hypoplasia	rs587777253, rs1597273765	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leber Congenital Amaurosis	leber congenital amaurosis	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Albinism	Associate	32744312, 33808351, 35157951
Anterior segment mesenchymal dysgenesis	Associate	32744312, 33498813
Color Vision Defects	Associate	35157951
Foveal Hypoplasia and Anterior Segment Dysgenesis	Associate	31719542, 32744312, 33498813, 35029636
Foveal Hypoplasia Isolated	Associate	24045842, 34415986
Genetic Diseases Inborn	Associate	34415986
Non alcoholic Fatty Liver Disease	Associate	23213074
Nystagmus Pathologic	Associate	32744312, 33498813
O'Donnell Pappas syndrome	Associate	31719542, 32744312, 33498813, 33808351, 34415986, 35157951
Vision Low	Associate	24045842

SLC38A8 (solute carrier family 38 member 8)