SLC38A8 solute carrier family 38 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC38A8provided by HGNC
Official Full Name: solute carrier family 38 member 8provided by HGNC
Primary source: HGNC:HGNC:32434
See related: Ensembl:ENSG00000166558 MIM:615585; AllianceGenome:HGNC:32434
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FVH2; FHASD; SNAT8
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 acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (84009667..84043372, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (90075718..90109442, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (84043272..84076400, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Title: The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Title: Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Title: SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Title: Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
Title: The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
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.
Title: Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study.
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Title: Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Title: Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MedGen: C3807873 OMIM: 609218 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in L-alpha-amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: solute carrier family 38 member 8; putative sodium-coupled neutral amino acid transporter 8

Names: amino acid transporter SLC38A8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034136.1 RefSeqGene

Range

4363..37491

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080442.3 → NP_001073911.1 solute carrier family 38 member 8

See identical proteins and their annotated locations for NP_001073911.1

Status: REVIEWED

Source sequence(s)

AC040169

Consensus CDS

CCDS32495.1

UniProtKB/Swiss-Prot

A6NNN8

Related

ENSP00000299709.3, ENST00000299709.8

Conserved Domains (2) summary

COG0814
Location:23 → 431

SdaC; Amino acid permease [Amino acid transport and metabolism]

cl00456
Location:23 → 431

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

84009667..84043372 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022946.1 → XP_016878435.1 putative sodium-coupled neutral amino acid transporter 8 isoform X1

UniProtKB/Swiss-Prot

A6NNN8

Conserved Domains (2) summary

COG0814
Location:23 → 431

SdaC; Amino acid permease [Amino acid transport and metabolism]

cl00456
Location:23 → 431

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain