SLC7A8 - solute carrier family 7 member 8 Gene

Also Known as LAT2; LPI-PC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23428

About SLC7A8

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,125,295-23,183,660 (from NCBI)

This gene has 13 transcripts (splice variants), 258 orthologues and 12 paralogues. Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues.

Summary

Enables several functions, including neutral amino acid transmembrane transporter activity; thyroid hormone transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in plasma membrane. Part of basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A8 Products (4)

mRNA	Protein	Name
NM_001267036.1	NP_001253965.1	large neutral amino acids transporter small subunit 2 isoform c
NM_001267037.2	NP_001253966.1	large neutral amino acids transporter small subunit 2 isoform d
NM_012244.4	NP_036376.2	large neutral amino acids transporter small subunit 2 isoform a
NM_182728.3	NP_877392.1	large neutral amino acids transporter small subunit 2 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables L-alanine transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	10391915	GOA
enables L-leucine transmembrane transporter activity	IDA IDA: Inferred from direct assay	19075510	GOA
enables L-leucine transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	10391915	GOA
enables amino acid transmembrane transporter activity	EXP EXP: Inferred from Experiment	10391915	GOA
enables amino acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	10391915	GOA
enables antiporter activity	IDA IDA: Inferred from direct assay	11847106	GOA
enables neutral L-amino acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	11847106	GOA
enables neutral L-amino acid transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	26050671	GOA
enables organic cation transmembrane transporter activity	IDA IDA: Inferred from direct assay	12117417	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12716892	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	33298890	GOA
enables thyroid hormone transmembrane transporter activity	IDA IDA: Inferred from direct assay	26305885	GOA
enables toxin transmembrane transporter activity	IDA IDA: Inferred from direct assay	12117417	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-alanine import across plasma membrane	IGI IGI: Inferred from genetic interaction	10391915	GOA
involved in L-leucine import across plasma membrane	IDA IDA: Inferred from direct assay	19075510	GOA
involved in L-leucine import across plasma membrane	IGI IGI: Inferred from genetic interaction	10391915	GOA
involved in L-leucine import across plasma membrane	IMP IMP: Inferred from mutant phenotype	26050671	GOA
involved in amino acid import across plasma membrane	IDA IDA: Inferred from direct assay	26305885	GOA
involved in amino acid transport	IDA IDA: Inferred from direct assay	10391915	GOA
involved in neutral amino acid transport	IDA IDA: Inferred from direct assay	11847106	GOA
involved in thyroid hormone transport	IDA IDA: Inferred from direct assay	26305885	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basal plasma membrane	IDA IDA: Inferred from direct assay	26050671	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	15918515	GOA
located in microvillus membrane	IDA IDA: Inferred from direct assay	26050671	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10391915	GOA
located in plasma membrane	IGI IGI: Inferred from genetic interaction	10391915	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC7A8 Protein Structure

AA_permease_2

0
100
200
300
400
500
535 a.a.

Protein Preferred Names	Protein Names
large neutral amino acids transporter small subunit 2	L-type amino acid transporter 2

SLC7A8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC7A8	Q9UHI5	FKBP1A	Homo sapiens	Q0VDC6	Validated Y2H	32814053
Intra	SLC7A8	Q9UHI5	FKBP1A	Homo sapiens	Q0VDC6	Y2H Pooling	32814053
Intra	SLC7A8	Q9UHI5	FKBP1A	Homo sapiens	Q0VDC6	Y2H Array	32814053
Intra	SLC7A8	Q9UHI5	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	SLC7A8	Q9UHI5	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	SLC7A8	Q9UHI5	ERN1	Homo sapiens	O75460-2	Y2H Pooling	32814053
Intra	SLC7A8	Q9UHI5	ERN1	Homo sapiens	O75460-2	Validated Y2H	32814053
Intra	SLC7A8	Q9UHI5	ERN1	Homo sapiens	O75460-2	Y2H Array	32814053
Intra	SLC7A8	Q9UHI5	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	SLC7A8	Q9UHI5	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	SLC7A8	Q9UHI5	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	SLC7A8	Q9UHI5	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	SLC7A8	Q9UHI5	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	SLC7A8	Q9UHI5	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	SLC7A8	Q9UHI5	HSPA5	Homo sapiens	P11021	Y2H Pooling	32814053
Intra	SLC7A8	Q9UHI5	HSPA5	Homo sapiens	P11021	Validated Y2H	32814053
Intra	SLC7A8	Q9UHI5	HSPA5	Homo sapiens	P11021	Y2H Array	32814053
Intra	SLC7A8	Q9UHI5	HSPA2	Homo sapiens	P54652	Y2H Pooling	32814053
Intra	SLC7A8	Q9UHI5	HSPA2	Homo sapiens	P54652	Validated Y2H	32814053
Intra	SLC7A8	Q9UHI5	HSPA2	Homo sapiens	P54652	Y2H Array	32814053
Intra	SLC7A8	Q9UHI5	YIPF6	Homo sapiens	Q96EC8	Y2H Prey Pooling	32296183
Intra	SLC7A8	Q9UHI5	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	SLC7A8	Q9UHI5	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	SLC7A8	Q9UHI5	YIPF1	Homo sapiens	Q9Y548	Validated Y2H	32296183
Intra	SLC7A8	Q9UHI5	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	SLC7A8	Q9UHI5	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Lysinuric Protein Intolerance	LPI Dibasic Amino Aciduria Ii Hyperdibasic Aminoaciduria Dibasic Aminoaciduria 2 Dibasicamino Aciduria Ii Congenital Lysinuria Lpi - Lysinuric Protein Intolerance
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Chronic Granulomatous Disease Due To Deficiency Of Ncf-2 CGD2 Ncf2 Deficiency P67-Phox Deficiency Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii Granulomatous Disease, Chronic, Due To Ncf2 Deficiency Neutrophil Cytosol Factor 2 Deficiency Chronic Granulomatous Disease 2, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 2 Cdg2 Deficiency Of Ncf2 Deficiency Of P67-Phox Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii Deficiency Of Neutrophil Cytosol Factor 2 Avellino Corneal Dystrophy
Allan-Herndon-Dudley Syndrome	AHDS Allan-Herndon Syndrome Monocarboxylate Transporter 8 Deficiency MCT8 DEFICIENCY Mental Retardation, X-Linked, With Hypotonia Triiodothyronine Resistance T3 Resistance Mental Retardation And Muscular Atrophy Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency Intellectual Disability And Muscular Atrophy Monocarboxylate Transporter-8 Deficiency T3 Resisitence Triiodothyronine Resistence X-Linked Intellectual Disability With Hypotonia Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency Monocarboxylate Transporter 8 Deficiency X-Linked Intellectual Disability-Hypotonia Syndrome
Hartnup Disorder	Hartnup Disease HND Neutral 1 Amino Acid Transport Defect Neutral Amino Acid Transport Defect Deficiency Of Tryptophan Oxygenase Hartnup'S Disease Aminoaciduria, Hartnup Type Disorder Of Neutral Amino Acid Transport
Persistent Fetal Circulation Syndrome	Persistent Fetal Circulation Fetal Circulation Persistent Pulmonary Hypertension Of The Newborn Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins Persistent Foetal Circulation Persistent Foetal Circulation Syndrome Pfc - [Persistent Fetal Circulation] Syndrome Pphn - [Persistent Pulmonary Hypertension Of The Newborn] Newborn Pulmonary Hypertension Primary Pulmonary Hypertension Of Newborn
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133677	Mono(2-ethyl-5-hydroxyhexyl) phthalate		99.03%	Unkown
HY-RS13335	SLC7A8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC7A8	RGD	RGD:619904
Mus musculus	SLC7A8	MGD	MGI:1355323
Macaca mulatta	SLC7A8	VGNC	VGNC:77632
Canis familiaris	SLC7A8	VGNC	VGNC:46478
Felis catus	SLC7A8	VGNC	VGNC:80842
Bos taurus	SLC7A8	VGNC	VGNC:34933
Others	SLC7A8	NCBI