SLC37A2

solute carrier family 37 member 2, the group of Solute carrier family 37

Basic information

Region (hg38): 11:125063302-125090516

Links

ENSG00000134955 ∙ NCBI:219855 ∙ OMIM:619136 ∙ HGNC:20644 ∙ Uniprot:Q8TED4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 7.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001145290.2	NP_001138762.1	18	yes	-
ENST00000403796.7	ENSP00000384407.3	18	yes	-
NM_198277.3	NP_938018.1	18	-	-
ENST00000308074.4	ENSP00000311833.4	18	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC37A2 gene.

• not_specified (63 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC37A2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145290.2. 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	3		5
missense			60	4		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3			3
Total	0	0	65	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC37A2	protein_coding	protein_coding	ENST00000308074	18	26169

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125599	1	148	125748	0.000593

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.674	269	302	0.891	0.0000173	3276
Missense in Polyphen		94	97.719	0.96194		1047
Synonymous	-0.242	134	130	1.03	0.00000873	1012
Loss of Function	1.02	25	31.1	0.803	0.00000151	337

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000695	0.000686
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00176	0.00176
European (Non-Finnish)	0.000698	0.000659
Middle Eastern	0.000326	0.000326
South Asian	0.000330	0.000327
Other	0.000334	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6- phosphatase. May not play a role in homeostatic regulation of blood glucose levels. {ECO:0000269|PubMed:21949678}.
• Pathway: Vitamin D Receptor Pathway;Metabolism of carbohydrates;Metabolism;Gluconeogenesis;Glucose metabolism (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.946
• rvis_EVS: 0.05
• rvis_percentile_EVS: 57.48

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.225

Gene Damage Prediction

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

Gene ontology

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