SLC25A37

protein-coding

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

Gene summary

SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]

MANE transcript

NM_016612.4

Inheritance

—

ClinVar variants

U:58B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.24

Max pathogenic AF

—

Genomic locus

chr8:23,528,956-23,575,463

External References & Databases

Ensembl (ENSG00000147454)

Transcript & Mutation Effects

hg38 • Region Span ~46.5 kb

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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 SLC25A37 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 56

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016612.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar	1 clinvar	4
missense			56 clinvar		1 clinvar	57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	1	2	61

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016612.4	RefSeq	NP_057696.2	4	MANE Select
ENST00000519973.6	Ensembl	ENSP00000429200.1	4	MANE Select
NM_001317812.2	RefSeq	NP_001304741.1	2	Standard
NM_001317813.2	RefSeq	NP_001304742.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
slc25a37	Danio rerio	Structure: erythroid lineage cell Quality: decreased amount abnormal

Gene / Model

Organism

Observed Phenotype

slc25a37

Danio rerio

Structure: erythroid lineage cell

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Mitochondrial iron-sulfur cluster biogenesis
Metabolism

Biological Process

iron import into the mitochondrion
iron ion homeostasis

Molecular Function

iron ion transmembrane transporter activity

Cellular Component

mitochondrial inner membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000519973
Coding exons: 4
Length: 46659
Individuals with no LoFs: 124633
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 124638
p: 0.0000201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.10	171	217	0.789	0.0000138	2192
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000076	0.000065	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.338
RVIS EVS: 0.11
RVIS percentile EVS: 61.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.537

Gene Damage Prediction

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