SLC27A6

protein-coding

solute carrier family 27 member 6, the group of Acyl-CoA synthetase family|Solute carrier family 27

Gene summary

This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001017372.3

Inheritance

—

ClinVar variants

U:106B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr5:128,538,013-129,033,642

External References & Databases

Ensembl (ENSG00000113396)

Transcript & Mutation Effects

hg38 • Region Span ~495.6 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 SLC27A6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001017372.3. 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	1 clinvar		2
missense			100 clinvar	3 clinvar		103
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	106	4	0	110

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001017372.3	RefSeq	NP_001017372.1	10	MANE Select
ENST00000262462.9	Ensembl	ENSP00000262462.4	10	MANE Select
NM_001317984.2	RefSeq	NP_001304913.1	10	Standard
NM_014031.5	RefSeq	NP_054750.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Insulin resistance - Homo sapiens (human)
PPAR signaling pathway - Homo sapiens (human)
PPAR signaling pathway
Transport of fatty acids
Transport of vitamins, nucleosides, and related molecules

Biological Process

very long-chain fatty acid metabolic process
long-chain fatty acid metabolic process
long-chain fatty acid transport

Molecular Function

nucleotide binding
long-chain fatty acid-CoA ligase activity
long-chain fatty acid transporter activity
fatty acid transmembrane transporter activity
very long-chain fatty acid-CoA ligase activity

Cellular Component

plasma membrane
integral component of membrane
sarcolemma

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262462
Coding exons: 10
Length: 495630
Individuals with no LoFs: 124692
Homozygous LoFs: 3
Heterozygous LoFs: 1053
Defined: 125748
p: 0.00421

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0829	330	326	1.01	0.0000168	4010
Missense (PolyPhen)		110	122.04	0.90136		1550
Synonymous	-0.891	132	120	1.10	0.00000641	1190
Loss of Function	-0.0151	27	26.9	1.00	0.00000129	361

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00099	0.00098	rare
Latino/Admixed American	0.0048	0.0044	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.013	0.013	notable
European (Non-Finnish)	0.0042	0.0040	notable
South Asian	0.0036	0.0035	notable
Other	0.0059	0.0056	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart. {ECO:0000269|PubMed:12556534}.;

Recessive Scores

pRec: 0.0887

Intolerance Scores

LoFtool: 0.984
RVIS EVS: -0.13
RVIS percentile EVS: 43.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.594

Gene Damage Prediction

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