SLC38A8

Protein identityUniProt · HPA

UniProt accession

A6NNN8

Gene

SLC38A8

Ensembl

ENSG00000166558

Chromosome

16

Canonical length

435 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>A6NNN8|SLC38A8
     1  MEGQTPGSRG LPEKPHPATA AATLSSMGAV FILMKSALGA GLLNFPWAFS KAGGVVPAFL
    61  VELVSLVFLI SGLVILGYAA AVSGQATYQG VVRGLCGPAI GKLCEACFLL NLLMISVAFL
   121  RVIGDQLEKL CDSLLSGTPP APQPWYADQR FTLPLLSVLV ILPLSAPREI AFQKYTSILG
   181  TLAACYLALV ITVQYYLWPQ GLVRESHPSL SPASWTSVFS VFPTICFGFQ CHEAAVSIYC
   241  SMRKRSLSHW ALVSVLSLLA CCLIYSLTGV YGFLTFGTEV SADVLMSYPG NDMVIIVARV
   301  LFAVSIVTVY PIVLFLGRSV MQDFWRRSCL GGWGPSALAD PSGLWVRMPL TILWVTVTLA
   361  MALFMPDLSE IVSIIGGISS FFIFIFPGLC LICAMGVEPI GPRVKCCLEV WGVVSVLVGT
   421  FIFGQSTAAA VWEMF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC38A8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

11

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

2.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC38A8.

Disease | AllUniProt

Conditions SLC38A8 is implicated in, by any mechanism.

• Foveal hypoplasia 2 (FVH2) MIM:609218

Disease | GeneticClinVar

71 pathogenic / likely-pathogenic of 751 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
• Foveal hypoplasia
• FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS
• Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.9

gnomAD pLI

0

gnomAD missense Z

-4.34

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amino acid transmembrane transport
• aspartate metabolic process
• neuron projection development
• optic nerve development
• response to virus
• retinal pigment epithelium development
• viral genome replication
• visual perception

Molecular functions

• L-amino acid transmembrane transporter activity

Cellular components

• axon
• cell cortex
• membrane

Protein domainsUniProt · Pfam · InterPro

• Amino acid transporter, transmembrane domain
• Transmembrane amino acid transporter protein

KeywordsUniProt

• Amino-acid transport
• Cell projection
• Cytoplasm
• Membrane
• Transmembrane
• Transmembrane helix
• Transport