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SLC25A46 solute carrier family 25 member 46 [ Homo sapiens (human) ]

Gene ID: 91137, updated on 5-Aug-2018
Official Symbol
SLC25A46provided by HGNC
Official Full Name
solute carrier family 25 member 46provided by HGNC
Primary source
HGNC:HGNC:25198
See related
Ensembl:ENSG00000164209 MIM:610826; Vega:OTTHUMG00000128794
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HMSN6B
Summary
This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
Expression
Ubiquitous expression in brain (RPKM 17.7), thyroid (RPKM 13.2) and 25 other tissues See more
Orthologs
See SLC25A46 in Genome Data Viewer
Location:
5q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (110738136..110765174)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (110073837..110100857)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379119 Neighboring gene transmembrane protein 232 Neighboring gene microRNA 548f-3 Neighboring gene integrin alpha FG-GAP repeat containing 2 pseudogene Neighboring gene BCL2 associated transcription factor 1 pseudogene 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
MedGen: C4225302 OMIM: 616505 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686G02226

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial membrane fission IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
solute carrier family 25 member 46

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.

Genomic

  1. NG_051334.1 RefSeqGene

    Range
    5837..32039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303249.2NP_001290178.1  solute carrier family 25 member 46 isoform 2

    See identical proteins and their annotated locations for NP_001290178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC008650, AK300123, BC017169, DA713164
    Consensus CDS
    CCDS78045.1
    UniProtKB/Swiss-Prot
    Q96AG3
    Related
    ENSP00000399717.2, OTTHUMP00000223494, ENST00000447245.6, OTTHUMT00000372504
    Conserved Domains (1) summary
    pfam00153
    Location:236321
    Mito_carr; Mitochondrial carrier protein
  2. NM_001303250.2NP_001290179.1  solute carrier family 25 member 46 isoform 3

    See identical proteins and their annotated locations for NP_001290179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus than isoform 1.
    Source sequence(s)
    AC008650, AK302326, BC017169, DB051498
    UniProtKB/Swiss-Prot
    Q96AG3
    UniProtKB/TrEMBL
    B4DY98
    Conserved Domains (1) summary
    pfam00153
    Location:226311
    Mito_carr; Mitochondrial carrier protein
  3. NM_138773.3NP_620128.1  solute carrier family 25 member 46 isoform 1

    See identical proteins and their annotated locations for NP_620128.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC008650, AK290217, BC017169, DA713164
    Consensus CDS
    CCDS4100.1
    UniProtKB/Swiss-Prot
    Q96AG3
    Related
    ENSP00000348211.3, OTTHUMP00000159002, ENST00000355943.7, OTTHUMT00000250721
    Conserved Domains (1) summary
    pfam00153
    Location:317402
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_138151.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008650

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    110738136..110765174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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