SLC16A11

solute carrier family 16 member 11, the group of Solute carrier family 16

Basic information

Region (hg38): 17:7041621-7044092

Links

ENSG00000174326 ∙ NCBI:162515 ∙ OMIM:615765 ∙ HGNC:23093 ∙ Uniprot:Q8NCK7 ∙ 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 SLC16A11 gene.

• not_specified (88 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001370549.1. 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						0
missense			80	4		84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	80	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A11	protein_coding	protein_coding	ENST00000308009	4	2294

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000492	0.427	124958	0	119	125077	0.000476

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.378	244	261	0.934	0.0000129	2827
Missense in Polyphen		103	111.35	0.925		1251
Synonymous	-0.0120	130	130	1.00	0.00000703	1153
Loss of Function	0.515	9	10.8	0.831	4.73e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00687	0.00634
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000199	0.000185
European (Non-Finnish)	0.0000392	0.0000355
Middle Eastern	0.00	0.00
South Asian	0.0000679	0.0000653
Other	0.000179	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proton-linked monocarboxylate transporter. It catalyzes the transport of pyruvate across the plasma membrane (PubMed:28666119). Probably involved in hepatic lipid metabolism: overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids (PubMed:24390345). {ECO:0000269|PubMed:24390345, ECO:0000269|PubMed:28666119}.

Recessive Scores

• pRec: 0.102

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.178
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.533

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a11

Gene ontology

• Biological process: lipid metabolic process;monocarboxylic acid transport;pyruvate transmembrane transport
• Cellular component: endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane
• Molecular function: protein binding;monocarboxylic acid transmembrane transporter activity;symporter activity;pyruvate transmembrane transporter activity