SLC25A18

solute carrier family 25 member 18, the group of Solute carrier family 25

Basic information

Region (hg38): 22:17563450-17590995

Links

ENSG00000182902 ∙ NCBI:83733 ∙ OMIM:609303 ∙ HGNC:10988 ∙ Uniprot:Q9H1K4 ∙ 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 SLC25A18 gene.

• not_specified (51 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031481.3. 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			48	2		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A18	protein_coding	protein_coding	ENST00000327451	9	30622

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.87e-7	0.441	125702	0	45	125747	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.617	173	197	0.876	0.0000121	2026
Missense in Polyphen		69	83.641	0.82495		928
Synonymous	0.0271	79	79.3	0.996	0.00000523	656
Loss of Function	0.768	12	15.2	0.788	7.98e-7	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000485	0.000485
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000187	0.000185
Middle Eastern	0.0000544	0.0000544
South Asian	0.000327	0.000327
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). {ECO:0000269|PubMed:11897791}.
• Pathway: visual signal transduction;Organic anion transporters;Amino acid and oligopeptide SLC transporters;Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Vitamin B9 (folate) metabolism (Consensus)

Intolerance Scores

• loftool: 0.528
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.143
• hipred: N
• hipred_score: 0.267
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.140

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a18

Gene ontology

• Biological process: ion transport;aspartate transmembrane transport;L-glutamate transmembrane transport;malate-aspartate shuttle;L-aspartate transmembrane transport;proton transmembrane transport
• Cellular component: mitochondrial inner membrane;integral component of membrane
• Molecular function: amino acid:proton symporter activity;L-glutamate transmembrane transporter activity;protein binding;L-aspartate transmembrane transporter activity