SLC35A4

protein-coding

solute carrier family 35 member A4, the group of Solute carrier family 35

Gene summary

Predicted to enable transmembrane transporter activity. Involved in positive regulation of cellular respiration and positive regulation of translation in response to stress. Located in Golgi membrane and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_080670.4

Inheritance

—

ClinVar variants

U:61B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr5:140,564,819-140,569,100

External References & Databases

Ensembl (ENSG00000176087)

UniProt (L0R6Q1, Q96G79)

Transcript & Mutation Effects

hg38 • Region Span ~4.3 kb

Loading mutation effect viewer...

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 SLC35A4 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 62

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_080670.4. 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						0
missense			61 clinvar	1 clinvar		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	1	0	62

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_080670.4	RefSeq	NP_542401.1	1	MANE Select
ENST00000323146.8	Ensembl	ENSP00000327133.3	1	MANE Select
ENST00000514199.1	Ensembl	ENSP00000424566.1	1	Standard
ENST00000514199.2	Ensembl	ENSP00000424566.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

carbohydrate transport
sialic acid transport
pyrimidine nucleotide-sugar transmembrane transport

Molecular Function

sialic acid transmembrane transporter activity
pyrimidine nucleotide-sugar transmembrane transporter activity

Cellular Component

Golgi apparatus
integral component of Golgi membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000514199
Coding exons: 1
Length: 4648
Individuals with no LoFs: 125707
Homozygous LoFs: 0
Heterozygous LoFs: 41
Defined: 125748
p: 0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.147	202	196	1.03	0.0000125	2003
Missense (PolyPhen)		70	72.364	0.96733		870
Synonymous	-0.817	102	92.0	1.11	0.00000554	804
Loss of Function	0.616	7	8.99	0.778	5.58e-7	83

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00027	0.00027	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.000065	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.685
RVIS EVS: 0.37
RVIS percentile EVS: 75.29

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.517

Gene Damage Prediction

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