SLC25A47

protein-coding

solute carrier family 25 member 47, the group of Solute carrier family 25

Gene summary

This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

Previous symbols:

C14orf68

MANE transcript

NM_207117.4

Inheritance

—

ClinVar variants

U:73B:8

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 1.16

Max pathogenic AF

—

Genomic locus

chr14:100,323,339-100,330,421

External References & Databases

Ensembl (ENSG00000140107)

Transcript & Mutation Effects

hg38 • Region Span ~7.1 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 SLC25A47 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 75

not providedTotal: 4

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207117.4. 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			1 clinvar	2 clinvar		3
missense			72 clinvar	6 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	8	0	81

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207117.4	RefSeq	NP_997000.2	6	MANE Select
ENST00000361529.5	Ensembl	ENSP00000354886.3	6	MANE Select
NM_001350877.2	RefSeq	NP_001337806.1	2	Standard
ENST00000557052.1	Ensembl	ENSP00000451078.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

acyl carnitine transport
acyl carnitine transmembrane transport

Molecular Function

acyl carnitine transmembrane transporter activity

Cellular Component

mitochondrial inner membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361529
Coding exons: 6
Length: 7042
Individuals with no LoFs: 125645
Homozygous LoFs: 0
Heterozygous LoFs: 102
Defined: 125747
p: 0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.377	213	229	0.930	0.0000172	1912
Missense (PolyPhen)		96	94.539	1.0155		862
Synonymous	-0.910	114	102	1.11	0.00000791	689
Loss of Function	-0.614	20	17.2	1.16	0.00000108	152

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00084	0.00080	rare
Latino/Admixed American	0.00041	0.00040	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0016	0.0016	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00025	0.00024	rare
South Asian	0.00064	0.00062	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential. {ECO:0000269|PubMed:15322095}.;

Recessive Scores

pRec: 0.0892

Intolerance Scores

RVIS EVS: 0.47
RVIS percentile EVS: 78.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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