SLC16A10

solute carrier family 16 member 10, the group of Solute carrier family 16

Basic information

Region (hg38): 6:111087503-111231194

Links

ENSG00000112394 ∙ NCBI:117247 ∙ OMIM:607550 ∙ HGNC:17027 ∙ Uniprot:Q8TF71 ∙ 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 SLC16A10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A10 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				2	1	3
missense			38	1		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	38	3	2

Variants in SLC16A10

This is a list of pathogenic ClinVar variants found in the SLC16A10 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-111087762-T-A		not specified	Uncertain significance (Feb 19, 2025)
6-111087792-A-C		not specified	Uncertain significance (Jul 15, 2021)
6-111087795-A-C		not specified	Uncertain significance (Jul 15, 2021)
6-111087798-G-A		not specified	Uncertain significance (Nov 09, 2021)
6-111087849-C-G		not specified	Uncertain significance (Oct 23, 2024)
6-111087856-C-T		not specified	Uncertain significance (Mar 01, 2023)
6-111087928-A-G		not specified	Uncertain significance (Apr 15, 2024)
6-111087942-C-G		not specified	Uncertain significance (Aug 01, 2024)
6-111087946-C-T		not specified	Uncertain significance (May 06, 2024)
6-111088000-C-T		not specified	Uncertain significance (Mar 06, 2023)
6-111088004-G-A			Likely benign (Jul 17, 2018)
6-111088066-A-G		not specified	Uncertain significance (Jan 10, 2023)
6-111088068-G-A		not specified	Uncertain significance (Apr 11, 2023)
6-111088080-A-T		not specified	Uncertain significance (May 10, 2022)
6-111172770-G-A		not specified	Uncertain significance (Aug 11, 2024)
6-111172776-G-A		not specified	Uncertain significance (Jan 03, 2022)
6-111172788-T-C		not specified	Uncertain significance (Jun 05, 2023)
6-111172802-G-C		not specified	Uncertain significance (Jun 02, 2023)
6-111177216-A-G		not specified	Uncertain significance (Oct 04, 2024)
6-111177285-T-C			Benign (Aug 29, 2018)
6-111177302-C-G		not specified	Uncertain significance (Dec 15, 2023)
6-111177367-T-A		not specified	Uncertain significance (Jun 28, 2023)
6-111177453-C-T		not specified	Uncertain significance (Oct 29, 2024)
6-111177461-G-C			Benign (Aug 29, 2018)
6-111177522-G-A		not specified	Likely benign (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A10	protein_coding	protein_coding	ENST00000368851	6	143617

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.309	0.691	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	190	271	0.702	0.0000134	3350
Missense in Polyphen		72	126.64	0.56854		1474
Synonymous	1.42	83	101	0.820	0.00000522	1064
Loss of Function	2.93	4	17.0	0.235	9.03e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000408	0.000408
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000888	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000674	0.0000653
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity). {ECO:0000250, ECO:0000269|PubMed:11827462}.
• Pathway: Protein digestion and absorption - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Tyrosine metabolism;Biopterin metabolism;Amino acid transport across the plasma membrane;Amino acid and oligopeptide SLC transporters;Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Tryptophan metabolism (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.417
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.0808
• hipred: Y
• hipred_score: 0.637
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0102

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a10
• Phenotype: renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: amino acid transmembrane transport;amino acid transport;aromatic amino acid transport;thyroid hormone transport
• Cellular component: plasma membrane;integral component of plasma membrane;basolateral plasma membrane
• Molecular function: amino acid transmembrane transporter activity;aromatic amino acid transmembrane transporter activity;thyroid hormone transmembrane transporter activity