SLC6A14

protein-coding

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

Gene summary

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

MANE transcript

NM_007231.5

Inheritance

ClinVar variants

U:106B:5

Top phenotype

cystic fibrosis

Max pathogenic AF

—

Genomic locus

chrX:116,436,606-116,461,458

External References & Databases

Ensembl (ENSG00000268104)

Transcript & Mutation Effects

hg38 • Region Span ~24.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cystic fibrosisSUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0009061

Submitter: Orphanet

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC6A14 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 45

not providedTotal: 8

SLC6A14-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007231.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			15 clinvar	1 clinvar	3 clinvar	19
missense			76 clinvar		1 clinvar	77
nonsense			7 clinvar			7
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	106	1	4	111

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007231.5	RefSeq	NP_009162.1	14	MANE Select
ENST00000598581.3	Ensembl	ENSP00000470801.1	14	MANE Select
ENST00000905559.1	Ensembl	ENSP00000575618.1	13	Standard
ENST00000905559.2	Ensembl	ENSP00000575618.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nuclear Receptors Meta-Pathway
NRF2 pathway
Amine compound SLC transporters
Biopterin metabolism
Amino acid transport across the plasma membrane

Biological Process

amino acid transmembrane transport
cellular amino acid metabolic process
neurotransmitter transport
amino acid transport
response to toxic substance

Molecular Function

neurotransmitter:sodium symporter activity
amino acid transmembrane transporter activity

Cellular Component

plasma membrane
integral component of membrane
vesicle
extracellular exosome

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.119

Intolerance Scores

LoFtool: 0.327
RVIS EVS: -0.23
RVIS percentile EVS: 37.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.255

Gene Damage Prediction

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