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

Gene ID: 146167, updated on 23-Nov-2021

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
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
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
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Genomic context

See SLC38A8 in Genome Data Viewer
Location:
16q23.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (84009667..84043372, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84043272..84076400, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene oxidative stress induced growth inhibitor 1 Neighboring gene N-terminal EF-hand calcium binding protein 2 Neighboring gene RNA, 5S ribosomal pseudogene 432 Neighboring gene membrane bound transcription factor peptidase, site 1 Neighboring gene polo like kinase 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease.
GeneReviews: Not available
Foveal hypoplasia 2
MedGen: C3807873 OMIM: 609218 GeneReviews: Not available
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General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
putative sodium-coupled neutral amino acid transporter 8

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

  1. NG_034136.1 RefSeqGene

    Range
    5001..37491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080442.3NP_001073911.1  putative sodium-coupled neutral amino acid transporter 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:23431
    SdaC; Amino acid permease [Amino acid transport and metabolism]
    cl00456
    Location:23431
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    84009667..84043372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A6NNN8
    Conserved Domains (2) summary
    COG0814
    Location:23431
    SdaC; Amino acid permease [Amino acid transport and metabolism]
    cl00456
    Location:23431
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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