SLC35E2A

solute carrier family 35 member E2A (pseudogene), the group of Solute carrier family 35

Basic information

Region (hg38): 1:1734690-1739557

Previous symbols: [ "SLC35E2" ]

Links

ENSG00000215790 ∙ NCBI:9906 ∙ ∙ HGNC:20863 ∙ Uniprot:P0CK97 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC35E2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35E2A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			22	4		26
Total	0	0	22	4	0

Variants in SLC35E2A

This is a list of pathogenic ClinVar variants found in the SLC35E2A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-1734715-C-T		not specified	Uncertain significance (Oct 13, 2021)
1-1734725-G-A		not specified	Likely benign (Oct 11, 2024)
1-1734731-C-T		not specified	Uncertain significance (Mar 11, 2025)
1-1734748-G-A		not specified	Uncertain significance (Sep 26, 2023)
1-1734783-A-G			Likely benign (Oct 01, 2022)
1-1734785-G-A		not specified	Uncertain significance (Jul 09, 2024)
1-1734804-C-G		not specified	Uncertain significance (Jun 11, 2021)
1-1738345-G-A		not specified	Uncertain significance (May 14, 2024)
1-1738353-A-T		not specified	Uncertain significance (Jan 07, 2022)
1-1738356-A-G		not specified	Uncertain significance (Jun 29, 2023)
1-1738359-G-A		not specified	Uncertain significance (Jun 12, 2023)
1-1738374-G-C		not specified	Uncertain significance (Feb 17, 2024)
1-1738404-G-A		not specified	Uncertain significance (Jan 21, 2025)
1-1738411-T-C		not specified	Uncertain significance (Apr 01, 2024)
1-1738445-A-C		not specified	Uncertain significance (Dec 13, 2023)
1-1738949-A-G		not specified	Uncertain significance (Aug 14, 2024)
1-1738976-C-G		not specified	Uncertain significance (Aug 19, 2024)
1-1738995-A-C		not specified	Uncertain significance (Jul 17, 2024)
1-1739007-C-T		not specified	Uncertain significance (Sep 26, 2023)
1-1739010-G-A		not specified	Likely benign (Apr 09, 2024)
1-1739012-G-T		not specified	Uncertain significance (Apr 15, 2024)
1-1739028-T-C		not specified	Uncertain significance (Dec 26, 2023)
1-1739318-C-G			Likely benign (Jun 01, 2025)
1-1739401-C-T		not specified	Uncertain significance (Dec 16, 2021)
1-1739422-C-T		not specified	Likely benign (Sep 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35E2A	protein_coding	protein_coding	ENST00000246421	5	21155

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000762	0.549	124925	20	663	125608	0.00272

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.183	118	124	0.954	0.00000827	1641
Missense in Polyphen		32	42.217	0.75799		596
Synonymous	-0.928	59	50.6	1.17	0.00000358	552
Loss of Function	0.380	5	6.00	0.833	2.53e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000162
Ashkenazi Jewish	0.00	0.00
East Asian	0.00600	0.00580
Finnish	0.0239	0.0209
European (Non-Finnish)	0.00128	0.00102
Middle Eastern	0.00600	0.00580
South Asian	0.00	0.00
Other	0.00171	0.00147

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0872
• hipred: N
• hipred_score: 0.278
• ghis: 0.428

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Slc35e2

Gene ontology

• Cellular component: Golgi apparatus;integral component of membrane
• Molecular function: pyrimidine nucleotide-sugar transmembrane transporter activity;antiporter activity;transmembrane transporter activity