SLC22A23

solute carrier family 22 member 23, the group of Solute carrier family 22

Basic information

Region (hg38): 6:3268961-3457050

Previous symbols: [ "C6orf85" ]

Links

ENSG00000137266 ∙ NCBI:63027 ∙ OMIM:611697 ∙ HGNC:21106 ∙ Uniprot:A1A5C7 ∙ 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 SLC22A23 gene.

• Inborn genetic diseases (27 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A23 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	3	4
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	3

Variants in SLC22A23

This is a list of pathogenic ClinVar variants found in the SLC22A23 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-3273069-T-A		not specified	Uncertain significance (Apr 07, 2022)
6-3273111-C-G		not specified	Uncertain significance (Feb 27, 2023)
6-3273137-T-C		not specified	Uncertain significance (Jul 20, 2021)
6-3273185-T-G		not specified	Uncertain significance (Feb 13, 2024)
6-3273219-C-T		not specified	Uncertain significance (Jun 22, 2023)
6-3273379-C-T			Benign (Aug 07, 2018)
6-3273382-G-A			Benign (Dec 31, 2019)
6-3283860-C-G			Likely benign (Aug 01, 2022)
6-3283860-C-T			Benign (Oct 09, 2018)
6-3283869-G-C		not specified	Uncertain significance (Feb 15, 2023)
6-3283940-C-T		not specified	Likely benign (Feb 13, 2023)
6-3283971-C-T		not specified	Uncertain significance (Jun 02, 2023)
6-3285083-G-T		not specified	Uncertain significance (Dec 27, 2022)
6-3285097-T-A		not specified	Uncertain significance (Feb 02, 2024)
6-3289822-C-T		not specified	Uncertain significance (Jun 06, 2023)
6-3289825-T-C		not specified	Uncertain significance (Dec 27, 2023)
6-3289846-G-A		not specified	Uncertain significance (Mar 27, 2023)
6-3298199-G-A		not specified	Uncertain significance (Dec 17, 2023)
6-3323850-T-C		not specified	Uncertain significance (Sep 22, 2023)
6-3323897-C-T		not specified	Uncertain significance (Sep 22, 2023)
6-3323976-G-A		not specified	Uncertain significance (Mar 11, 2022)
6-3410206-G-C		not specified	Uncertain significance (Sep 01, 2021)
6-3410239-A-C		not specified	Uncertain significance (Sep 17, 2021)
6-3410240-C-A		not specified	Uncertain significance (May 05, 2023)
6-3410302-T-C		not specified	Uncertain significance (Oct 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A23	protein_coding	protein_coding	ENST00000406686	10	188061

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.827	0.173	125730	0	9	125739	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.87	292	397	0.735	0.0000231	4409
Missense in Polyphen		87	156.67	0.55531		1687
Synonymous	-0.613	194	183	1.06	0.0000119	1469
Loss of Function	4.01	5	27.8	0.180	0.00000174	277

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000113	0.0000905
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000578	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.429
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.8

Haploinsufficiency Scores

• pHI: 0.497
• hipred: Y
• hipred_score: 0.662
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.375

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc22a23

Gene ontology

• Biological process: ion transport;transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: protein binding;transmembrane transporter activity