SLC35D3

protein-coding

solute carrier family 35 member D3, the group of Solute carrier family 35

Gene summary

Enables UDP-glucose transmembrane transporter activity. Involved in UDP-glucose transmembrane transport. Is active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FRCL1

MANE transcript

NM_001008783.3

Inheritance

—

ClinVar variants

U:53B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr6:136,922,301-136,925,660

External References & Databases

Ensembl (ENSG00000182747)

Transcript & Mutation Effects

hg38 • Region Span ~3.4 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 SLC35D3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008783.3. 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
missense			53 clinvar	1 clinvar	1 clinvar	55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	1	2	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008783.3	RefSeq	NP_001008783.1	2	MANE Select
ENST00000331858.5	Ensembl	ENSP00000333591.4	2	MANE Select
ENST00001140914.1	Ensembl	ENSP00000807439.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

carbohydrate transport
positive regulation of protein exit from endoplasmic reticulum
energy homeostasis

Molecular Function

antiporter activity
transmembrane transporter activity

Cellular Component

early endosome
endoplasmic reticulum
Golgi apparatus
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331858
Coding exons: 2
Length: 3376
Individuals with no LoFs: 125736
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125747
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.07	216	265	0.814	0.0000152	2622
Missense (PolyPhen)		72	113.48	0.6345		1120
Synonymous	-0.409	137	131	1.05	0.00000907	924
Loss of Function	1.86	4	10.5	0.381	5.34e-7	110

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in hemostasis as a regulator of the biosynthesis of platelet-dense granules. {ECO:0000250}.;

Recessive Scores

pRec: 0.114

Intolerance Scores

RVIS EVS: 0.4
RVIS percentile EVS: 76.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.138

Gene Damage Prediction

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