SLC25A37

solute carrier family 25 member 37, the group of Solute carrier family 25

Basic information

Region (hg38): 8:23528955-23575463

Links

ENSG00000147454 ∙ NCBI:51312 ∙ OMIM:610387 ∙ HGNC:29786 ∙ Uniprot:Q9NYZ2 ∙ 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 SLC25A37 gene.

• Inborn genetic diseases (15 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A37 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			15		1	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	2

Variants in SLC25A37

This is a list of pathogenic ClinVar variants found in the SLC25A37 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-23529048-A-G		not specified	Uncertain significance (Nov 30, 2021)
8-23529093-A-T		not specified	Uncertain significance (Aug 15, 2023)
8-23529126-A-G		not specified	Uncertain significance (Feb 28, 2024)
8-23529127-G-C		not specified	Uncertain significance (Jun 21, 2022)
8-23529130-C-G		not specified	Uncertain significance (Jan 06, 2023)
8-23529203-C-G		not specified	Uncertain significance (Nov 15, 2021)
8-23566216-G-A		not specified	Uncertain significance (Jan 26, 2023)
8-23566286-G-A		not specified	Uncertain significance (May 24, 2023)
8-23566317-A-G			Likely benign (Jan 01, 2023)
8-23568370-C-T		not specified	Uncertain significance (Jul 05, 2023)
8-23571337-G-A		not specified	Uncertain significance (Oct 12, 2022)
8-23571434-G-A		not specified	Uncertain significance (Nov 01, 2022)
8-23571452-T-C		not specified	Uncertain significance (May 26, 2023)
8-23571580-G-T			Benign (Jan 08, 2018)
8-23571607-G-A		not specified	Uncertain significance (May 16, 2023)
8-23571639-C-A		not specified	Uncertain significance (Dec 28, 2022)
8-23571667-G-C		not specified	Uncertain significance (Dec 06, 2022)
8-23571669-C-T			Benign (Jan 08, 2018)
8-23571701-C-T		not specified	Uncertain significance (Sep 01, 2021)
8-23571742-A-T		not specified	Uncertain significance (Oct 10, 2023)
8-23571836-A-G		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A37	protein_coding	protein_coding	ENST00000519973	4	46659

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.279	0.717	124633	0	5	124638	0.0000201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	171	217	0.789	0.0000138	2192
Missense in Polyphen		45	87.846	0.51226		846
Synonymous	-0.0553	95	94.3	1.01	0.00000667	677
Loss of Function	2.45	3	12.3	0.245	6.11e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000757	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000180	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity). {ECO:0000250}.
• Pathway: Mitochondrial iron-sulfur cluster biogenesis;Metabolism (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.338
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• pHI: 0.912
• hipred: Y
• hipred_score: 0.580
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.537

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a37
• Phenotype: homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: slc25a37
• Affected structure: erythroid lineage cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: iron import into the mitochondrion;iron ion homeostasis
• Cellular component: mitochondrial inner membrane;integral component of membrane
• Molecular function: iron ion transmembrane transporter activity