SLC37A3

solute carrier family 37 member 3, the group of Solute carrier family 37

Basic information

Region (hg38): 7:140293693-140404433

Links

ENSG00000157800 ∙ NCBI:84255 ∙ OMIM:619137 ∙ HGNC:20651 ∙ Uniprot:Q8NCC5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• retinitis pigmentosa (Moderate), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC37A3 gene.

• not_specified (57 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC37A3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207113.3. 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				2	2	4
missense			54	1	1	56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	3	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC37A3	protein_coding	protein_coding	ENST00000326232	14	110741

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.12e-13	0.276	125679	0	69	125748	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	216	276	0.783	0.0000150	3197
Missense in Polyphen		68	106.6	0.63789		1297
Synonymous	0.169	111	113	0.980	0.00000716	979
Loss of Function	1.18	24	31.1	0.772	0.00000171	324

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000414	0.000413
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000164	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000379	0.000360
Middle Eastern	0.000164	0.000109
South Asian	0.000265	0.000261
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.926
• rvis_EVS: -0.35
• rvis_percentile_EVS: 29.43

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.237
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.325

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc37a3

Gene ontology

• Biological process: carbohydrate transport;glucose-6-phosphate transport;phosphate ion transmembrane transport
• Cellular component: cytosol;integral component of endoplasmic reticulum membrane
• Molecular function: glucose 6-phosphate:inorganic phosphate antiporter activity