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

Gene ID: 91137, updated on 4-Oct-2020

Summary

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
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

Genomic context

See SLC25A46 in Genome Data Viewer
Location:
5q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (110738145..110765157)
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 Sharpr-MPRA regulatory region 2532 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
GeneReviews: Not available
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available
Neuropathy, hereditary motor and sensory, type 6B
MedGen: C4225302 OMIM: 616505 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
autophagy of mitochondrion IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell differentiation IEA
Inferred from Electronic Annotation
more info
 
dendrite development IEA
Inferred from Electronic Annotation
more info
 
locomotion involved in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane fission IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial transport IEA
Inferred from Electronic Annotation
more info
 
myelination in peripheral nervous system IEA
Inferred from Electronic Annotation
more info
 
optic nerve development IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system neuron axonogenesis IEA
Inferred from Electronic Annotation
more info
 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
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
 

General protein information

Preferred Names
solute carrier family 25 member 46

NCBI Reference Sequences (RefSeq)

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
    5872..32022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303249.3NP_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, ENST00000447245.6
    Conserved Domains (1) summary
    pfam00153
    Location:236321
    Mito_carr; Mitochondrial carrier protein
  2. NM_001303250.3NP_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_138773.4NP_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, ENST00000355943.8
    Conserved Domains (1) summary
    pfam00153
    Location:317402
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_138151.2 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    110738145..110765157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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