SLC7A8 solute carrier family 7 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC7A8provided by HGNC
Official Full Name: solute carrier family 7 member 8provided by HGNC
Primary source: HGNC:HGNC:11066
See related: Ensembl:ENSG00000092068 MIM:604235; AllianceGenome:HGNC:11066
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAT2; LPI-PC1
Summary: Enables several functions, including neutral L-amino acid transmembrane transporter activity; protein heterodimerization activity; and secondary active transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Oct 2024]
Annotation information: Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018]
Expression: Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23125295..23183660, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17325945..17384328, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23594504..23652869, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Evidence for a relationship between genetic polymorphisms of the L-DOPA transporter LAT2/4F2hc and risk of hypertension in the context of chronic kidney disease.
Title: Evidence for a relationship between genetic polymorphisms of the L-DOPA transporter LAT2/4F2hc and risk of hypertension in the context of chronic kidney disease.
SLC7A8 overexpression inhibits the growth and metastasis of lung adenocarcinoma and is correlated with a dismal prognosis.
Title: SLC7A8 overexpression inhibits the growth and metastasis of lung adenocarcinoma and is correlated with a dismal prognosis.
Identification and verification of microRNA signature and key genes in the development of osteosarcoma with lung metastasis.
Title: Identification and verification of microRNA signature and key genes in the development of osteosarcoma with lung metastasis.
Genomic and epigenomic evolution of acquired resistance to combination therapy in esophageal squamous cell carcinoma.
Title: Genomic and epigenomic evolution of acquired resistance to combination therapy in esophageal squamous cell carcinoma.
Small molecule inhibitors provide insights into the relevance of LAT1 and LAT2 in materno-foetal amino acid transport.
Title: Small molecule inhibitors provide insights into the relevance of LAT1 and LAT2 in materno-foetal amino acid transport.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Title: Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
The Heavy Chain 4F2hc Modulates the Substrate Affinity and Specificity of the Light Chains LAT1 and LAT2.
Title: The Heavy Chain 4F2hc Modulates the Substrate Affinity and Specificity of the Light Chains LAT1 and LAT2.
Sub-Nanometer Cryo-EM Density Map of the Human Heterodimeric Amino Acid Transporter 4F2hc-LAT2.
Title: Sub-Nanometer Cryo-EM Density Map of the Human Heterodimeric Amino Acid Transporter 4F2hc-LAT2.
The solute carrier SLC7A8 is a marker of favourable prognosis in ER-positive low proliferative invasive breast cancer.
Title: The solute carrier SLC7A8 is a marker of favourable prognosis in ER-positive low proliferative invasive breast cancer.
These preliminary data suggest that a relevant proportion of age-related hearing loss cases could be explained by SLC7A8 mutations.
Title: Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143965 (e-PCR)
- UniSTS:174113

RH69320 (e-PCR)
- UniSTS:61515

RH68931 (e-PCR)
- UniSTS:79229

RH99158 (e-PCR)
- UniSTS:92543

D14S936 (e-PCR)
- UniSTS:25491

D14S1252 (e-PCR)
- UniSTS:41171

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-alanine transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-leucine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-leucine transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables amino acid transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glycine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables neutral L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables neutral L-amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables neutral L-amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables neutral L-amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables organic cation transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide antigen binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables thyroid hormone transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables thyroid hormone transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables toxin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-alanine import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in L-leucine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-leucine import across plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in L-leucine import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-leucine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in amino acid import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	TAS Traceable Author Statement more info
involved_in glycine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in neutral amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neutral amino acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in proline transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in thyroid hormone transport	IDA Inferred from Direct Assay more info	PubMed
involved_in thyroid hormone transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in tryptophan transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in valine transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: large neutral amino acids transporter small subunit 2

Names: L-type amino acid transporter 2; integral membrane protein E16H; solute carrier family 7 (amino acid transporter light chain, L system), member 8; solute carrier family 7 (amino acid transporter, L-type), member 8; solute carrier family 7 (cationic amino acid transporter, y+ system), member 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.

mRNA and Protein(s)

NM_001267036.1 → NP_001253965.1 large neutral amino acids transporter small subunit 2 isoform c

See identical proteins and their annotated locations for NP_001253965.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB037669, AF135830, AK296702, AL117258, BX248288

Consensus CDS

CCDS58305.1

UniProtKB/Swiss-Prot

Q9UHI5

Related

ENSP00000434345.2, ENST00000529705.6

Conserved Domains (1) summary

TIGR00911
Location:65 → 392

2A0308; L-type amino acid transporter
NM_001267037.2 → NP_001253966.1 large neutral amino acids transporter small subunit 2 isoform d

See identical proteins and their annotated locations for NP_001253966.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon and lacks an exon in the coding region, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AB037669, AF135830, AK300384, BX248288

Consensus CDS

CCDS58304.1

UniProtKB/Swiss-Prot

Q9UHI5

Related

ENSP00000416398.2, ENST00000422941.6

Conserved Domains (1) summary

cl26159
Location:39 → 273

AA_permease_2; Amino acid permease
NM_012244.4 → NP_036376.2 large neutral amino acids transporter small subunit 2 isoform a

See identical proteins and their annotated locations for NP_036376.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AB037669, AF135830, AK223610, AK313465, AL365343, BX248288

Consensus CDS

CCDS9590.1

UniProtKB/Swiss-Prot

B2R8Q4, B4DKT4, B4DTV6, D3DS46, F2Z2J4, Q86U05, Q9UHI5, Q9UKQ6, Q9UKQ7, Q9UKQ8, Q9Y445

UniProtKB/TrEMBL

Q53EM9

Related

ENSP00000320378.7, ENST00000316902.12

Conserved Domains (1) summary

TIGR00911
Location:1 → 497

2A0308; L-type amino acid transporter
NM_182728.3 → NP_877392.1 large neutral amino acids transporter small subunit 2 isoform b

See identical proteins and their annotated locations for NP_877392.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AB037669, AF135830, BX248288

Consensus CDS

CCDS41924.1

UniProtKB/TrEMBL

Q7Z4Z5

Related

ENSP00000391577.1, ENST00000453702.5

Conserved Domains (1) summary

TIGR00911
Location:1 → 294

2A0308; L-type amino acid transporter

RNA

NR_049767.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB037669, AF135830, AL117258, BC036825, BX248288

Related

ENST00000339733.9