SLC7A8

solute carrier family 7 member 8, the group of Solute carrier family 7

Basic information

Region (hg38): 14:23125294-23183674

Links

ENSG00000092068 ∙ NCBI:23428 ∙ OMIM:604235 ∙ HGNC:11066 ∙ Uniprot:Q9UHI5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC7A8 gene.

• Inborn genetic diseases (15 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC7A8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			14	1	2	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	2

Variants in SLC7A8

This is a list of pathogenic ClinVar variants found in the SLC7A8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-23127223-G-C		not specified	Uncertain significance (Jul 15, 2021)
14-23127233-T-C		not specified	Uncertain significance (Dec 16, 2023)
14-23127286-C-T		not specified	Likely benign (Jan 24, 2023)
14-23127313-C-A		not specified	Uncertain significance (Feb 27, 2024)
14-23128025-A-T		not specified	Uncertain significance (Aug 04, 2023)
14-23128047-G-C		not specified	Uncertain significance (Jul 12, 2023)
14-23128063-C-A		not specified	Uncertain significance (Jan 27, 2022)
14-23129706-C-G		not specified	Uncertain significance (Feb 28, 2023)
14-23129754-G-T		not specified	Uncertain significance (May 05, 2023)
14-23129799-A-C		not specified	Uncertain significance (Oct 05, 2023)
14-23131499-C-T		not specified	Uncertain significance (Dec 26, 2023)
14-23137969-G-A		not specified	Uncertain significance (Dec 21, 2023)
14-23139436-G-A			Likely benign (Mar 09, 2018)
14-23139480-C-T		not specified	Uncertain significance (Nov 08, 2022)
14-23139485-T-C		Short stature	Likely pathogenic (Nov 18, 2001)
14-23140504-T-C		not specified	Uncertain significance (May 03, 2023)
14-23140520-C-T		not specified	Uncertain significance (Nov 07, 2022)
14-23140529-C-T		Short stature	Likely pathogenic (Nov 18, 2001)
14-23140556-C-G		not specified	Uncertain significance (Jun 23, 2021)
14-23140565-C-T		not specified	Uncertain significance (Sep 28, 2022)
14-23143172-G-A		not specified	Uncertain significance (Nov 07, 2023)
14-23143190-C-T		not specified	Uncertain significance (Dec 19, 2022)
14-23165347-G-A		not specified	Uncertain significance (Dec 16, 2021)
14-23165357-C-T		not specified	Uncertain significance (Oct 05, 2023)
14-23165374-A-G		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC7A8	protein_coding	protein_coding	ENST00000316902	11	58380

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.11e-8	0.851	125699	0	49	125748	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.174	299	308	0.972	0.0000169	3428
Missense in Polyphen		143	157.75	0.90647		1751
Synonymous	0.476	123	130	0.947	0.00000771	1130
Loss of Function	1.58	15	23.2	0.646	0.00000107	267

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.000832	0.000832
European (Non-Finnish)	0.000178	0.000167
Middle Eastern	0.000381	0.000381
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney. {ECO:0000269|PubMed:10391915, ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11311135, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12716892, ECO:0000269|PubMed:15081149, ECO:0000269|PubMed:15769744, ECO:0000269|PubMed:15918515}.
• Pathway: Protein digestion and absorption - Homo sapiens (human);Polythiazide Action Pathway;Methyclothiazide Action Pathway;Bumetanide Action Pathway;Spironolactone Action Pathway;Eplerenone Action Pathway;Triamterene Action Pathway;Amiloride Action Pathway;Ethacrynic Acid Action Pathway;Quinethazone Action Pathway;Bendroflumethiazide Action Pathway;Chlorthalidone Action Pathway;Trichlormethiazide Action Pathway;Iminoglycinuria;Lysinuric Protein Intolerance;Blue diaper syndrome;Lysinuric protein intolerance (LPI);Cystinuria;Indapamide Action Pathway;Furosemide Action Pathway;Torsemide Action Pathway;Hartnup Disorder;Glucose Transporter Defect (SGLT2);Kidney Function;Glucose Transporter Defect (SGLT2);Metolazone Action Pathway;Hydrochlorothiazide Action Pathway;Cyclothiazide Action Pathway;Hydroflumethiazide Action Pathway;Chlorothiazide Action Pathway;Amino acid transport across the plasma membrane;Amino acid and oligopeptide SLC transporters;Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Methionine and cysteine metabolism;Cell surface interactions at the vascular wall;Hemostasis;Basigin interactions (Consensus)

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.135
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.78

Haploinsufficiency Scores

• pHI: 0.685
• hipred: N
• hipred_score: 0.285
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.966

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Slc7a8
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: amino acid transmembrane transport;cellular amino acid metabolic process;amino acid transport;response to toxic substance;organic cation transport;neutral amino acid transport;leukocyte migration;metal ion homeostasis;toxin transport;L-alpha-amino acid transmembrane transport
• Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane;basolateral plasma membrane
• Molecular function: protein binding;organic cation transmembrane transporter activity;amino acid transmembrane transporter activity;neutral amino acid transmembrane transporter activity;L-amino acid transmembrane transporter activity;toxin transmembrane transporter activity;peptide antigen binding