SLC37A3

protein-coding

solute carrier family 37 member 3, the group of Solute carrier family 37

Gene summary

Enables xenobiotic transmembrane transporter activity. Involved in xenobiotic transmembrane transport. Located in endoplasmic reticulum membrane and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_207113.3

Inheritance

ClinVar variants

U:78B:7

Top phenotype

retinitis pigmentosa

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr7:140,293,693-140,404,433

External References & Databases

Ensembl (ENSG00000157800)

Transcript & Mutation Effects

hg38 • Region Span ~110.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

retinitis pigmentosaMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0019200

Submitter: Ambry Genetics

retinitis pigmentosaSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0019200

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC37A3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 67

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207113.3. 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			4 clinvar	3 clinvar	2 clinvar	9
missense			65 clinvar	1 clinvar	1 clinvar	67
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	78	4	3	85

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 92 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207113.3	RefSeq	NP_996996.1	14	MANE Select
ENST00000326232.14	Ensembl	ENSP00000321498.9	14	MANE Select
NM_001287498.2	RefSeq	NP_001274427.1	13	Standard
NM_001363373.1	RefSeq	NP_001350302.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

carbohydrate transport
glucose-6-phosphate transport
phosphate ion transmembrane transport

Molecular Function

glucose 6-phosphate:inorganic phosphate antiporter activity

Cellular Component

cytosol
integral component of endoplasmic reticulum membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000326232
Coding exons: 14
Length: 110741
Individuals with no LoFs: 125679
Homozygous LoFs: 0
Heterozygous LoFs: 69
Defined: 125748
p: 0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.28	216	276	0.783	0.0000150	3197
Missense (PolyPhen)		68	106.6	0.63789		1297
Synonymous	0.169	111	113	0.980	0.00000716	979
Loss of Function	1.18	24	31.1	0.772	0.00000171	324

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00016	0.00011	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00038	0.00036	rare
South Asian	0.00027	0.00026	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.117

Intolerance Scores

LoFtool: 0.926
RVIS EVS: -0.35
RVIS percentile EVS: 29.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.325

Gene Damage Prediction

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