SLC22A10

protein-coding

solute carrier family 22 member 10, the group of Solute carrier family 22

Gene summary

Predicted to enable transmembrane transporter activity. Predicted to be involved in organic anion transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001039752.4

Inheritance

—

ClinVar variants

U:82B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr11:63,268,022-63,311,783

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~43.8 kb
Loading mutation effect viewer...

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 SLC22A10 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 84
not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039752.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
81
clinvar
4
clinvar
85
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00825087
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001039752.4RefSeqNP_001034841.310MANE Select
ENST00000332793.11EnsemblENSP00000327569.610MANE Select
ENST00000526800.1EnsemblENSP00000433908.15Standard
ENST00000526800.2EnsemblENSP00000433908.25Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • transmembrane transport

Molecular Function

  • transmembrane transporter activity

Cellular Component

  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000332793
Coding exons
10
Length
231852
Individuals with no LoFs
30557
Homozygous LoFs
34513
Heterozygous LoFs
60668
Defined
125738
p
0.507
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.8353392981.140.00001543493
Missense (PolyPhen)7167.8071.0471862
Synonymous-2.071331061.260.000005211124
Loss of Function-0.5462724.11.120.00000132268

Population LoF Frequency

PopulationCAFp-valueStatus
African0.290.30notable
Latino/Admixed American0.510.51notable
Ashkenazi Jewish0.450.45notable
East Asian0.420.42notable
Finnish0.610.60notable
European (Non-Finnish)0.580.57notable
South Asian0.450.44notable
Other0.530.53notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool
0.700
RVIS EVS
1.85
RVIS percentile EVS
97.12

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.0699

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh
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