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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	146167
Gene name	Solute carrier family 38 member 8
Gene symbol	SLC38A8
Synonyms (NCBI Gene)	FHASDFVH2SNAT8
Chromosome	16
Chromosome location	16q23.3
Summary	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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Foveal hypoplasia	Pathogenic	rs587777253, rs1597273765	RCV001003224 RCV001003223
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	Pathogenic; Likely pathogenic	rs2151131708, rs587777253, rs372929441, rs149592537, rs1228073295, rs149436446, rs1379690075, rs763615950, rs747905946, rs2085268536, rs1463272578, rs777138837, rs1264151343, rs2507616467, rs1057516193 View all (6 more)	RCV001733534 RCV000111467 RCV000111471 RCV002490757 RCV001783765 RCV002246723 RCV002271983 RCV005014990 RCV004796848 RCV005356545 RCV005015033 RCV005240961 RCV005015043 RCV004547400 RCV004577099 RCV000408871 RCV001255623 RCV001007575 RCV001270482 RCV001270484 RCV001270483 RCV001270481
Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis	Likely pathogenic; Pathogenic	rs149592537, rs587777257	RCV000111472 RCV000111473
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING	Pathogenic	rs587777256	RCV000111470
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS	Pathogenic	rs587777254, rs587777255	RCV000111468 RCV000111469

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs1876960	RCV005904945
Leber congenital amaurosis	Conflicting classifications of pathogenicity	rs760391436	RCV000515654
Malignant tumor of esophagus	Uncertain significance	rs142821762	RCV005911118
SLC38A8-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs111765632, rs56802364, rs13334006, rs200390359, rs148450852, rs554293529, rs146485245, rs372806651, rs201004000, rs367666960, rs202194881, rs138524338, rs150844985, rs147597105, rs73254348 View all (6 more)	RCV003970954 RCV003970957 RCV003978709 RCV003963407 RCV004758277 RCV004758278 RCV004731544 RCV003919275 RCV003966511 RCV004758290 RCV003919789 RCV003944167 RCV004758100 RCV003918565 RCV003930532 RCV003950647 RCV004758082 RCV004758083 RCV003913018 RCV003903039 RCV003950785
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs150844985	RCV005904944
Uveal melanoma	Benign	rs1876960	RCV005904946

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)