SLC25A52 solute carrier family 25 member 52 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A52provided by HGNC
Official Full Name: solute carrier family 25 member 52provided by HGNC
Primary source: HGNC:HGNC:23324
See related: Ensembl:ENSG00000141437 MIM:616153; AllianceGenome:HGNC:23324
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: MCART2
Summary: This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]
Orthologs: all
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Genomic context

Location:: 18q12.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (31759584..31760880, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (31950093..31951389, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (29339547..29340843, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial NAD transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial NAD transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

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
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52

Names: mitochondrial NAD(+) transporter SLC25A52; mitochondrial carrier triple repeat 2; mitochondrial carrier triple repeat protein 2

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.

mRNA and Protein(s)

NM_001034172.4 → NP_001029344.4 mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52

Status: VALIDATED

Source sequence(s)

AC022960, BC104001, DB057843

Consensus CDS

CCDS32812.3

UniProtKB/Swiss-Prot

Q3SY17

UniProtKB/TrEMBL

I3L0B8

Related

ENSP00000372612.4, ENST00000269205.7

Conserved Domains (1) summary

pfam00153
Location:31 → 112

Mito_carr; Mitochondrial carrier protein