SLC25A36

protein-coding

solute carrier family 25 member 36, the group of Solute carrier family 25

Gene summary

Enables pyrimidine nucleotide transmembrane transporter activity. Involved in pyrimidine nucleotide import into mitochondrion. Located in mitochondrion. Implicated in familial hyperinsulinemic hypoglycemia 8. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001104647.3

Inheritance

ClinVar variants

P:1U:35B:1

Top phenotype

Hyperinsulinemic hypoglycemia, familial, 8

gnomAD constraint

pLI —, LoF o/e 0.34

Max pathogenic AF

—

Genomic locus

chr3:140,941,830-140,980,995

External References & Databases

Ensembl (ENSG00000114120)

Transcript & Mutation Effects

hg38 • Region Span ~39.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

hyperinsulinemic hypoglycemia, familial, 8LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859362

Submitter: Ambry Genetics

hyperinsulinemic hypoglycemia, familial, 8STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859362

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Hyperinsulinemic hypoglycemia, familial, 8AR

Manifestation: Biochemical; Endocrine; Neurologic

Intervention: Endocrine

Rationale: The condition can include symptomatic hypoglycemia, and medical and dietary management has been described as beneficial in some individuals; Thyroid dysfunction has been described, and medical management (eg, with oral uridine) has been described as beneficial

Refs: 34576089; 34971397

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC25A36 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 28

Hyperinsulinemic hypoglycemia, familial, 8Total: 2

not providedTotal: 1

SLC25A36-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001104647.3. 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					1 clinvar	1
missense			31 clinvar			31
nonsense			1 clinvar			1
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	1	0	35	0	1	37

Highest pathogenic variant AF is 0.00003649835

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 68 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001104647.3	RefSeq	NP_001098117.1	7	MANE Select
ENST00000324194.12	Ensembl	ENSP00000320688.6	7	MANE Select
NM_018155.3	RefSeq	NP_060625.2	7	Standard
ENST00000446041.6	Ensembl	ENSP00000401938.2	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitochondrial genome maintenance
pyrimidine nucleotide transport
mitochondrion organization
regulation of mitochondrial membrane potential
pyrimidine nucleotide import into mitochondrion

Molecular Function

pyrimidine nucleotide transmembrane transporter activity

Cellular Component

mitochondrion
mitochondrial inner membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000324194
Coding exons: 7
Length: 38104
Individuals with no LoFs: 125737
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125744
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.92	91	159	0.571	0.00000817	1962
Missense (PolyPhen)		6	33.774	0.17765		466
Synonymous	0.153	53	54.4	0.974	0.00000258	643
Loss of Function	2.33	5	14.6	0.342	8.77e-7	187

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially cytosine and uracil (deoxy)nucleoside mono-, di-, and triphosphates by uniport and antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10- phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration. {ECO:0000269|PubMed:25320081}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.307
RVIS EVS: -0.41
RVIS percentile EVS: 26.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.955

Gene Damage Prediction

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