SLC16A13

solute carrier family 16 member 13, the group of Solute carrier family 16

Basic information

Region (hg38): 17:7036015-7040117

Links

ENSG00000174327 ∙ NCBI:201232 ∙ ∙ HGNC:31037 ∙ Uniprot:Q7RTY0 ∙ 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 SLC16A13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A13 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						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in SLC16A13

This is a list of pathogenic ClinVar variants found in the SLC16A13 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7036387-C-G		not specified	Uncertain significance (Sep 04, 2024)
17-7036393-G-A		not specified	Uncertain significance (Jan 16, 2024)
17-7036485-G-T		not specified	Uncertain significance (May 20, 2024)
17-7036536-G-A		not specified	Uncertain significance (May 20, 2024)
17-7036540-C-A		not specified	Uncertain significance (Jan 30, 2024)
17-7036759-G-C		not specified	Uncertain significance (May 07, 2024)
17-7036820-C-G		not specified	Uncertain significance (Oct 04, 2022)
17-7038346-C-T		not specified	Uncertain significance (Jan 31, 2024)
17-7038376-C-T		not specified	Uncertain significance (Sep 14, 2022)
17-7038377-G-A		not specified	Uncertain significance (May 09, 2023)
17-7038421-G-T		not specified	Uncertain significance (Jun 17, 2024)
17-7038457-C-G		not specified	Uncertain significance (Apr 15, 2024)
17-7038467-C-T		not specified	Uncertain significance (May 31, 2023)
17-7038539-T-C		not specified	Uncertain significance (Mar 15, 2024)
17-7038560-C-T		not specified	Uncertain significance (Jun 29, 2023)
17-7038568-C-G		not specified	Uncertain significance (Feb 28, 2023)
17-7038621-G-C		not specified	Uncertain significance (Nov 15, 2024)
17-7038655-C-T		not specified	Uncertain significance (Dec 14, 2021)
17-7038683-G-C		not specified	Uncertain significance (Dec 14, 2023)
17-7038685-G-T		not specified	Uncertain significance (Jan 23, 2024)
17-7038703-C-A		not specified	Uncertain significance (Dec 17, 2023)
17-7038866-G-A		not specified	Uncertain significance (Dec 16, 2023)
17-7039772-G-A		not specified	Uncertain significance (Feb 17, 2022)
17-7039787-A-C		not specified	Uncertain significance (Jun 10, 2024)
17-7039841-T-C		not specified	Uncertain significance (Oct 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A13	protein_coding	protein_coding	ENST00000308027	4	4047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.57e-11	0.0254	125683	0	65	125748	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.181	228	236	0.967	0.0000127	2650
Missense in Polyphen		85	92.973	0.91424		1055
Synonymous	0.860	98	109	0.895	0.00000576	1040
Loss of Function	-0.463	15	13.2	1.14	7.54e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000576	0.000575
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00109	0.00109
Finnish	0.00	0.00
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.00109	0.00109
South Asian	0.000229	0.000229
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. {ECO:0000305|PubMed:12739169}.
• Disease: DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: Glycosphingolipid metabolism;Glycerophospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.889
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.92

Haploinsufficiency Scores

• pHI: 0.0300
• hipred: N
• hipred_score: 0.282
• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.316

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a13

Gene ontology

• Biological process: monocarboxylic acid transport;transmembrane transport
• Cellular component: Golgi membrane;Golgi apparatus;integral component of plasma membrane
• Molecular function: monocarboxylic acid transmembrane transporter activity;symporter activity