SLC25A14

protein-coding

solute carrier family 25 member 14, the group of Solute carrier family 25

Gene summary

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]

MANE transcript

NM_001282195.2

Inheritance

—

ClinVar variants

U:80

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:130,339,888-130,373,361

External References & Databases

Ensembl (ENSG00000102078)

Transcript & Mutation Effects

hg38 • Region Span ~33.5 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 SLC25A14 variants in ClinVar

2 Conditions Cataloged

EBV-positive nodal T- and NK-cell lymphomaTotal: 2

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001282195.2. 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			9 clinvar			9
missense			45 clinvar			45
nonsense			4 clinvar			4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			22 clinvar			22
Total	0	0	80	0	0	80

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001282195.2	RefSeq	NP_001269124.1	10	MANE Select
ENST00000545805.6	Ensembl	ENSP00000444642.2	10	MANE Select
NM_001282196.2	RefSeq	NP_001269125.1	10	Standard
NM_001282197.2	RefSeq	NP_001269126.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Electron Transport Chain
The citric acid (TCA) cycle and respiratory electron transport
Metabolism
The fatty acid cycling model
The proton buffering model

Biological Process

mitochondrial transport
sulfate transport
aerobic respiration
thiosulfate transport
oxaloacetate transport

Molecular Function

sulfate transmembrane transporter activity
thiosulfate transmembrane transporter activity
oxaloacetate transmembrane transporter activity
malate transmembrane transporter activity
succinate transmembrane transporter activity

Cellular Component

mitochondrion
mitochondrial inner membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000218197
Coding exons: 10
Length: 33462
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.50	53	135	0.394	0.0000106	2124
Missense (PolyPhen)		8	51.033	0.15676		813
Synonymous	0.610	41	46.3	0.886	0.00000365	635
Loss of Function	3.39	0	13.4	0.00	0.00000104	216

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Participates in the mitochondrial proton leak measured in brain mitochondria.;

Recessive Scores

pRec: 0.129

Intolerance Scores

RVIS EVS: -0.14
RVIS percentile EVS: 42.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.475

Gene Damage Prediction

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