SLC25A36

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

Basic information

Region (hg38): 3:140941830-140980995

Links

ENSG00000114120 ∙ NCBI:55186 ∙ OMIM:616149 ∙ HGNC:25554 ∙ Uniprot:Q96CQ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hyperinsulinemic hypoglycemia, familial, 8 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hyperinsulinemic hypoglycemia, familial, 8	AR	Endocrine	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	Biochemical; Endocrine; Neurologic	34576089; 34971397

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC25A36 gene.

• not_specified (18 variants)
• Hyperinsulinemic_hypoglycemia,_familial,_8 (2 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A36 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001104647.3. 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					1	1
missense			17			17
nonsense			1			1
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	18	0	1

Highest pathogenic variant AF is 0.00003649835

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A36	protein_coding	protein_coding	ENST00000324194	7	38104

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0335	0.959	125737	0	7	125744	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.92	91	159	0.571	0.00000817	1962
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000581	0.0000581
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000927	0.0000924
European (Non-Finnish)	0.0000269	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.168
• hipred: Y
• hipred_score: 0.673
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.955

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a36

Gene ontology

• Biological process: mitochondrial genome maintenance;pyrimidine nucleotide transport;mitochondrion organization;regulation of mitochondrial membrane potential;pyrimidine nucleotide import into mitochondrion
• Cellular component: mitochondrion;mitochondrial inner membrane;integral component of membrane
• Molecular function: pyrimidine nucleotide transmembrane transporter activity