SLC25A40 solute carrier family 25 member 40 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A40provided by HGNC
Official Full Name: solute carrier family 25 member 40provided by HGNC
Primary source: HGNC:HGNC:29680
See related: Ensembl:ENSG00000075303 MIM:610821; AllianceGenome:HGNC:29680
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCFP
Summary: SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in lymph node (RPKM 7.5), appendix (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (87833568..87876360, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (89083493..89126273, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (87462883..87505675, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC25A40 Facilitates Anticancer Drug Resistance in Human Leukemia K562 Cells.
Title: SLC25A40 Facilitates Anticancer Drug Resistance in Human Leukemia K562 Cells.
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
Title: Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2883 (e-PCR)
- UniSTS:37774

D7S2786 (e-PCR)
- UniSTS:62405

D7S2012 (e-PCR)
- UniSTS:60627

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutathione transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in erythrocyte development	IEA Inferred from Electronic Annotation more info
involved_in glutathione transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in import into the mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: mitochondrial glutathione transporter SLC25A40

Names: mitochondrial carrier family protein; probable mitochondrial glutathione transporter SLC25A40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.