SLC22A14

protein-coding

solute carrier family 22 member 14, the group of Solute carrier family 22

Gene summary

This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Previous symbols:

ORCTL4

MANE transcript

NM_001320033.2

Inheritance

—

ClinVar variants

U:78B:21

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr3:38,282,294-38,318,575

External References & Databases

Ensembl (ENSG00000144671)

Transcript & Mutation Effects

hg38 • Region Span ~36.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC22A14 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 91

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001320033.2. 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				5 clinvar	1 clinvar	6
missense			77 clinvar	13 clinvar	2 clinvar	92
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	78	18	3	99

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001320033.2	RefSeq	NP_001306962.1	10	MANE Select
ENST00000448498.6	Ensembl	ENSP00000396283.1	10	MANE Select
NM_004803.4	RefSeq	NP_004794.2	10	Standard
ENST00000273173.4	Ensembl	ENSP00000273173.4	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

organic cation transport
transmembrane transport

Molecular Function

organic cation transmembrane transporter activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000273173
Coding exons: 10
Length: 36282
Individuals with no LoFs: 115000
Homozygous LoFs: 667
Heterozygous LoFs: 10081
Defined: 125748
p: 0.0437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.139	325	332	0.978	0.0000184	3868
Missense (PolyPhen)		80	88.641	0.90252		1136
Synonymous	-0.347	151	146	1.04	0.00000891	1220
Loss of Function	0.567	21	24.0	0.875	0.00000111	271

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0084	0.0083	notable
Latino/Admixed American	0.028	0.028	notable
Ashkenazi Jewish	0.018	0.018	notable
East Asian	0.25	0.25	notable
Finnish	0.018	0.018	notable
European (Non-Finnish)	0.034	0.034	notable
South Asian	0.039	0.038	notable
Other	0.037	0.037	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0621

Intolerance Scores

LoFtool: 0.812
RVIS EVS: 1.85
RVIS percentile EVS: 97.13

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00815

Gene Damage Prediction

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