SLC22A7

solute carrier family 22 member 7, the group of Solute carrier family 22

Basic information

Region (hg38): 6:43295694-43305538

Links

ENSG00000137204 ∙ NCBI:10864 ∙ OMIM:604995 ∙ HGNC:10971 ∙ Uniprot:Q9Y694 ∙ 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 SLC22A7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A7 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					1	1
missense			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	2	1

Variants in SLC22A7

This is a list of pathogenic ClinVar variants found in the SLC22A7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-43298374-C-G		not specified	Uncertain significance (Apr 13, 2022)
6-43298383-C-G		not specified	Uncertain significance (Dec 07, 2023)
6-43298392-G-A		not specified	Uncertain significance (Jul 20, 2021)
6-43298402-C-T		not specified	Uncertain significance (Aug 01, 2022)
6-43298513-C-T		not specified	Uncertain significance (Dec 01, 2022)
6-43298580-T-C			Benign (Jan 30, 2018)
6-43298603-G-A		not specified	Likely benign (Aug 17, 2021)
6-43299093-C-T		not specified	Uncertain significance (May 31, 2023)
6-43299412-A-G		not specified	Uncertain significance (Feb 08, 2023)
6-43299634-C-T		not specified	Uncertain significance (Dec 08, 2023)
6-43299635-G-A		not specified	Uncertain significance (Dec 13, 2021)
6-43299928-C-T		not specified	Uncertain significance (Dec 19, 2022)
6-43299946-G-A		not specified	Uncertain significance (Jun 30, 2022)
6-43299970-T-G		not specified	Uncertain significance (Oct 05, 2023)
6-43299988-T-C		not specified	Uncertain significance (Apr 13, 2022)
6-43300002-C-T		not specified	Uncertain significance (May 31, 2022)
6-43300051-G-A		not specified	Uncertain significance (May 15, 2023)
6-43301212-C-T		not specified	Uncertain significance (Aug 23, 2021)
6-43301596-T-C		not specified	Uncertain significance (Mar 29, 2023)
6-43301601-G-A		not specified	Uncertain significance (Feb 22, 2024)
6-43301655-C-T		not specified	Uncertain significance (Dec 01, 2022)
6-43301682-G-A		not specified	Likely benign (Aug 15, 2023)
6-43302285-G-A		not specified	Uncertain significance (Jul 05, 2022)
6-43302390-G-A		not specified	Uncertain significance (Feb 15, 2023)
6-43302689-G-A		not specified	Uncertain significance (Oct 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A7	protein_coding	protein_coding	ENST00000372585	11	9845

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.51e-11	0.560	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	266	325	0.818	0.0000204	3413
Missense in Polyphen		93	125.84	0.73906		1401
Synonymous	-0.155	153	151	1.02	0.00000946	1272
Loss of Function	1.34	20	27.6	0.725	0.00000161	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.000328	0.000326
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000196	0.000193
Middle Eastern	0.000328	0.000326
South Asian	0.000276	0.000261
Other	0.000178	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha- ketoglutarate. {ECO:0000269|PubMed:11327718, ECO:0000269|PubMed:11855680, ECO:0000269|PubMed:11907186, ECO:0000269|PubMed:12023506, ECO:0000269|PubMed:15901346}.
• Pathway: Bile secretion - Homo sapiens (human);Fluoropyrimidine Pathway, Pharmacokinetics;Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Fluoropyrimidine Activity;Organic anion transport;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Organic cation/anion/zwitterion transport (Consensus)

Intolerance Scores

• rvis_EVS: -1.02
• rvis_percentile_EVS: 8

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.319
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.399

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc22a7

Zebrafish Information Network

• Gene name: slc22a7b.1
• Affected structure: melanocyte
• Phenotype tag: abnormal
• Phenotype quality: quality

Gene ontology

• Biological process: organic anion transport;anion transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;membrane;basolateral plasma membrane
• Molecular function: protein binding;anion:anion antiporter activity;sodium-independent organic anion transmembrane transporter activity