SLC6A14

solute carrier family 6 member 14, the group of Solute carrier family 6

Basic information

Region (hg38): X:116436606-116461458

Links

ENSG00000268104 ∙ NCBI:11254 ∙ OMIM:300444 ∙ HGNC:11047 ∙ Uniprot:Q9UN76 ∙ 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 SLC6A14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC6A14 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	3	4
missense			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1		1
Total	0	0	23	2	4

Variants in SLC6A14

This is a list of pathogenic ClinVar variants found in the SLC6A14 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-116437796-T-G		not specified	Uncertain significance (Nov 22, 2022)
X-116437840-T-G		not specified	Uncertain significance (Sep 17, 2021)
X-116437886-A-G			Uncertain significance (-)
X-116441070-G-A		not specified	Uncertain significance (May 06, 2022)
X-116441076-A-T		not specified	Uncertain significance (Jun 21, 2023)
X-116442714-C-T		not specified	Uncertain significance (Nov 18, 2022)
X-116442796-A-G			Benign (Jul 06, 2018)
X-116442813-C-T		not specified	Uncertain significance (Jul 13, 2021)
X-116444926-C-T		not specified	Uncertain significance (Jun 16, 2023)
X-116444944-G-A		not specified	Uncertain significance (Jan 31, 2023)
X-116445006-A-G			Benign (Jun 12, 2018)
X-116445031-G-T		not specified	Uncertain significance (Jun 17, 2024)
X-116446741-G-C		not specified	Uncertain significance (Jan 26, 2022)
X-116446746-A-G			Likely benign (Apr 01, 2022)
X-116446793-T-C		not specified	Uncertain significance (Jun 18, 2024)
X-116446796-G-A		not specified	Uncertain significance (Jul 19, 2023)
X-116446856-A-G		not specified	Uncertain significance (Dec 11, 2023)
X-116451510-A-G			Benign (May 15, 2018)
X-116451585-C-T			Benign (Jul 06, 2018)
X-116451592-G-T		not specified	Uncertain significance (Dec 14, 2023)
X-116451613-A-G		not specified	Uncertain significance (Jan 10, 2022)
X-116454292-A-C		SLC6A14-related disorder	Likely benign (Feb 22, 2022)
X-116454327-C-T		not specified	Uncertain significance (Sep 22, 2022)
X-116454329-A-C		not specified	Uncertain significance (Nov 13, 2023)
X-116454386-A-C		not specified	Uncertain significance (Feb 12, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner. {ECO:0000269|PubMed:10446133}.
• Pathway: Nuclear Receptors Meta-Pathway;NRF2 pathway;Amine compound SLC transporters;Biopterin metabolism;Amino acid transport across the plasma membrane;Amino acid and oligopeptide SLC transporters;Transport of inorganic cations/anions and amino acids/oligopeptides;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Lipoate metabolism;Histidine metabolism;Methionine and cysteine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Valine, leucine and isoleucine degradation;Aminosugars metabolism;Bile acid biosynthesis;Glycerophospholipid metabolism;Na+/Cl- dependent neurotransmitter transporters;Glycine, serine, alanine and threonine metabolism (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.327
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.316
• hipred: Y
• hipred_score: 0.613
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.255

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc6a14
• Phenotype: neoplasm; hematopoietic system phenotype; reproductive system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: amino acid transmembrane transport;cellular amino acid metabolic process;neurotransmitter transport;amino acid transport;response to toxic substance
• Cellular component: plasma membrane;integral component of membrane;vesicle;extracellular exosome
• Molecular function: neurotransmitter:sodium symporter activity;amino acid transmembrane transporter activity