SLC35E4

protein-coding

solute carrier family 35 member E4, the group of Solute carrier family 35

Gene summary

Predicted to enable antiporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001001479.4

Inheritance

—

ClinVar variants

U:57B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr22:30,635,781-30,669,016

External References & Databases

Ensembl (ENSG00000100036)

Transcript & Mutation Effects

hg38 • Region Span ~33.2 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 SLC35E4 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 55

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001001479.4. 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			2 clinvar			2
missense			55 clinvar	1 clinvar		56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	1	0	58

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001001479.4	RefSeq	NP_001001479.1	2	MANE Select
ENST00000343605.5	Ensembl	ENSP00000339626.4	2	MANE Select
NM_001318370.2	RefSeq	NP_001305299.1	2	Standard
NM_001318371.2	RefSeq	NP_001305300.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

pyrimidine nucleotide-sugar transmembrane transporter activity
antiporter activity
transmembrane transporter activity

Cellular Component

Golgi apparatus
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000343605
Coding exons: 2
Length: 33365
Individuals with no LoFs: 125675
Homozygous LoFs: 0
Heterozygous LoFs: 57
Defined: 125732
p: 0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.991	185	227	0.815	0.0000150	2146
Missense (PolyPhen)		56	71.75	0.78048		820
Synonymous	0.786	97	107	0.904	0.00000726	858
Loss of Function	1.41	4	8.43	0.474	4.98e-7	74

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000096	0.000092	rare
European (Non-Finnish)	0.00044	0.00042	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative transporter. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.409
RVIS EVS: -0.18
RVIS percentile EVS: 40.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.240

Gene Damage Prediction

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