SLC35B4

solute carrier family 35 member B4, the group of Solute carrier family 35

Basic information

Region (hg38): 7:134289332-134316930

Links

ENSG00000205060 ∙ NCBI:84912 ∙ OMIM:610923 ∙ HGNC:20584 ∙ Uniprot:Q969S0 ∙ 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 SLC35B4 gene.

• not_specified (37 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35B4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032826.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			34	2		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC35B4	protein_coding	protein_coding	ENST00000378509	10	27720

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000261	0.930	125702	0	45	125747	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	140	186	0.752	0.00000967	2179
Missense in Polyphen		37	53.004	0.69806		622
Synonymous	-0.320	75	71.6	1.05	0.00000411	628
Loss of Function	1.68	10	17.6	0.567	9.42e-7	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000294	0.000294
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000285	0.000264
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi. {ECO:0000269|PubMed:15911612}.
• Pathway: Proteoglycan biosynthesis;Transport of vitamins, nucleosides, and related molecules;SLC-mediated transmembrane transport;Transport of small molecules;Galactose metabolism;Transport of nucleotide sugars (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.586
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.325
• hipred: N
• hipred_score: 0.389
• ghis: 0.573

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.593

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc35b4
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: regulation of gluconeogenesis;carbohydrate transport;UDP-xylose transmembrane transport;3'-phospho-5'-adenylyl sulfate transmembrane transport;UDP-N-acetylglucosamine transmembrane transport
• Cellular component: Golgi membrane;endoplasmic reticulum;Golgi apparatus;integral component of Golgi membrane;integral component of endoplasmic reticulum membrane
• Molecular function: UDP-N-acetylglucosamine transmembrane transporter activity;UDP-xylose transmembrane transporter activity;protein binding;transmembrane transporter activity