SLC16A10

protein-coding

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

Gene summary

SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]

MANE transcript

NM_018593.5

Inheritance

—

ClinVar variants

U:61B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr6:111,087,503-111,231,194

External References & Databases

Ensembl (ENSG00000112394)

Transcript & Mutation Effects

hg38 • Region Span ~143.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC16A10 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 62

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018593.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	2 clinvar	4
missense			60 clinvar	4 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	61	6	2	69

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018593.5	RefSeq	NP_061063.2	6	MANE Select
ENST00000368851.10	Ensembl	ENSP00000357844.4	6	MANE Select
ENST00000368850.4	Ensembl	ENSP00000357843.1	3	Standard
ENST00000419619.2	Ensembl	ENSP00000399601.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

amino acid transmembrane transport
amino acid transport
aromatic amino acid transport
thyroid hormone transport

Molecular Function

amino acid transmembrane transporter activity
aromatic amino acid transmembrane transporter activity
thyroid hormone transmembrane transporter activity

Cellular Component

plasma membrane
integral component of plasma membrane
basolateral plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368851
Coding exons: 6
Length: 143617
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125748
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.74	190	271	0.702	0.0000134	3350
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000089	0.000088	rare
South Asian	0.000067	0.000065	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.417
RVIS EVS: -0.05
RVIS percentile EVS: 50.01

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0102

Gene Damage Prediction

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