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] See more...

Aliases for SLC25A46 Gene

Aliases for SLC25A46 Gene

  • Solute Carrier Family 25 Member 46 2 3 4 5
  • Solute Carrier Family 25, Member 46 2
  • SLC25A46 5
  • HMSN6B 3
  • TB1 4

External Ids for SLC25A46 Gene

Previous GeneCards Identifiers for SLC25A46 Gene

  • GC05P110103
  • GC05P105253

Summaries for SLC25A46 Gene

Entrez Gene Summary for SLC25A46 Gene

  • 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]

GeneCards Summary for SLC25A46 Gene

SLC25A46 (Solute Carrier Family 25 Member 46) is a Protein Coding gene. Diseases associated with SLC25A46 include Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy and Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy.

UniProtKB/Swiss-Prot Summary for SLC25A46 Gene

  • May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.

Additional gene information for SLC25A46 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A46 Gene

Genomics for SLC25A46 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A46 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J110737 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 609.5 +1.1 1065 2.8 CREB1 PRDM10 ZNF629 TFE3 RFX1 NFKBIZ RFX5 ZNF692 POLR2A BACH1 SLC25A46 TMEM232 lnc-TMEM232-4 HSALNG0044113 TSLP
GH05J110736 Promoter/Enhancer 0.6 Ensembl ENCODE 609.4 -1.2 -1209 0.7 SPI1 SLC25A46 TMEM232 lnc-TMEM232-4 lnc-STARD4-6
GH05J110738 Promoter 0.3 Ensembl 600.7 -0.6 -635 0.2 TMEM232 SLC25A46 lnc-TMEM232-4 lnc-STARD4-6
GH05J110053 Enhancer 1 Ensembl ENCODE 12.6 -682.7 -682743 4.8 CREB1 PRDM10 ZNF692 ZNF174 ZNF300 ZNF776 ZNF311 ZNF37A PKNOX1 ZNF561 SLC25A46 TMEM232 piR-38351-383 piR-37126 MAN2A1
GH05J110751 Enhancer 1 Ensembl ENCODE 6 +14.3 14303 2.1 CEBPG SP1 POLR2A BACH1 JUND RELA TCF12 IKZF2 TRIM22 PKNOX1 TMEM232 SLC25A46 lnc-TMEM232-4 HSALNG0044113 TSLP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A46 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A46

Top Transcription factor binding sites by QIAGEN in the SLC25A46 gene promoter:
  • AhR
  • Arnt
  • Bach1
  • CREB
  • FOXJ2
  • FOXJ2 (long isoform)
  • HSF1 (long)
  • HSF1short
  • SEF-1 (1)
  • ZID

Genomic Locations for SLC25A46 Gene

Genomic Locations for SLC25A46 Gene
chr5:110,738,136-110,765,161
(GRCh38/hg38)
Size:
27,026 bases
Orientation:
Plus strand
chr5:110,073,837-110,100,857
(GRCh37/hg19)
Size:
27,021 bases
Orientation:
Plus strand

Genomic View for SLC25A46 Gene

Genes around SLC25A46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A46 Gene

Proteins for SLC25A46 Gene

  • Protein details for SLC25A46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AG3-S2546_HUMAN
    Recommended name:
    Solute carrier family 25 member 46
    Protein Accession:
    Q96AG3
    Secondary Accessions:
    • A8K2F2
    • B3KRE6
    • B4DTA3
    • D3DSZ6
    • D6R9W7
    • Q04197

    Protein attributes for SLC25A46 Gene

    Size:
    418 amino acids
    Molecular mass:
    46174 Da
    Quaternary structure:
    • Interacts with IMMT.
    SequenceCaution:
    • Sequence=AAA03587.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC25A46 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A46 Gene

Post-translational modifications for SLC25A46 Gene

  • Ubiquitination at Lys197
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A46 Gene

No data available for DME Specific Peptides for SLC25A46 Gene

Domains & Families for SLC25A46 Gene

Gene Families for SLC25A46 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A46 Gene

Suggested Antigen Peptide Sequences for SLC25A46 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ34108 fis, clone FCBBF3008251, highly similar to Human TB1 gene mRNA (B3KRE6_HUMAN)
  • cDNA FLJ60882 (B4DTA3_HUMAN)
  • cDNA FLJ56268 (B4DY98_HUMAN)
  • cDNA FLJ58689 (B7Z6C8_HUMAN)
  • Solute carrier family 25 member 46 (S2546_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96AG3

UniProtKB/Swiss-Prot:

S2546_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A46: view

Function for SLC25A46 Gene

Molecular function for SLC25A46 Gene

UniProtKB/Swiss-Prot Function:
May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.

Phenotypes From GWAS Catalog for SLC25A46 Gene

Gene Ontology (GO) - Molecular Function for SLC25A46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SLC25A46: view
genes like me logo Genes that share phenotypes with SLC25A46: view

Human Phenotype Ontology for SLC25A46 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SLC25A46 Gene

miRTarBase miRNAs that target SLC25A46

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A46

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A46 Gene

Localization for SLC25A46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A46 Gene

Mitochondrion outer membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A46 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC25A46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005741 mitochondrial outer membrane IEA,IDA 26168012
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A46: view

Pathways & Interactions for SLC25A46 Gene

PathCards logo

SuperPathways for SLC25A46 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 autophagy of mitochondrion IEA --
GO:0006839 mitochondrial transport IEA --
GO:0007005 mitochondrion organization IEA --
GO:0007416 synapse assembly IEA --
GO:0016358 dendrite development IEA --
genes like me logo Genes that share ontologies with SLC25A46: view

No data available for Pathways by source and SIGNOR curated interactions for SLC25A46 Gene

Drugs & Compounds for SLC25A46 Gene

No Compound Related Data Available

Transcripts for SLC25A46 Gene

mRNA/cDNA for SLC25A46 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A46

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A46 Gene

No ASD Table

Relevant External Links for SLC25A46 Gene

GeneLoc Exon Structure for
SLC25A46

Expression for SLC25A46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

Protein differential expression in normal tissues from HIPED for SLC25A46 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.6), Frontal cortex (13.7), and Fetal Brain (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC25A46 Gene



Protein tissue co-expression partners for SLC25A46 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A46

SOURCE GeneReport for Unigene cluster for SLC25A46 Gene:

Hs.75639

Evidence on tissue expression from TISSUES for SLC25A46 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Skin(4.4)
  • Muscle(2.4)
  • Heart(2.2)
  • Kidney(2.2)
  • Lung(2.2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A46 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • neck
  • nose
  • olfactory bulb
  • vocal cord
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SLC25A46: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SLC25A46 Gene

Orthologs for SLC25A46 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC25A46 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A46 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A46 30 31
  • 92.08 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc25a46 30 17 31
  • 87.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a46 30
  • 87.88 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A46 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A46 31
  • 83 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A46 30 31
  • 82.49 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SLC25A46 30 31
  • 79.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC25A46 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a46 30
  • 71.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc25a46 30 31
  • 69.44 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG8931 30 31
  • 49.47 (n)
OneToMany
CG5755 31
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002704 30
  • 49.19 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y40B1B.8 30 31
  • 49.84 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToOne
Species where no ortholog for SLC25A46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC25A46 Gene

ENSEMBL:
Gene Tree for SLC25A46 (if available)
TreeFam:
Gene Tree for SLC25A46 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A46: view image

Paralogs for SLC25A46 Gene

No data available for Paralogs for SLC25A46 Gene

Variants for SLC25A46 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A46 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
638588 Likely Pathogenic: SLC25A46-associated optic atrophy spectrum disorder 110,761,517(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
638604 Likely Pathogenic: SLC25A46-associated optic atrophy spectrum disorder 110,745,413(+) CCAGCTAATTTTTTGT INTRON_VARIANT
640032 Uncertain Significance: Neuropathy, hereditary motor and sensory, type 6B 110,756,762(+) G/A INTRON_VARIANT
641076 Uncertain Significance: Neuropathy, hereditary motor and sensory, type 6B 110,739,288(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
641936 Uncertain Significance: Neuropathy, hereditary motor and sensory, type 6B 110,755,521(+) CGTAA/C SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC25A46 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC25A46 Gene

Variant ID Type Subtype PubMed ID
esv2759369 CNV loss 17122850
esv3304186 CNV mobile element insertion 20981092
esv3308718 CNV mobile element insertion 20981092
esv3325267 CNV insertion 20981092
esv3346178 CNV insertion 20981092
esv3391906 CNV insertion 20981092
nsv525752 CNV loss 19592680
nsv830446 CNV loss 17160897

Variation tolerance for SLC25A46 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A46 Gene

Human Gene Mutation Database (HGMD)
SLC25A46
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A46 Gene

Disorders for SLC25A46 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SLC25A46 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

S2546_HUMAN
  • Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]: An autosomal recessive neurologic disorder characterized by early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities. {ECO:0000269 PubMed:26168012}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A46

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A46: view

No data available for Genatlas for SLC25A46 Gene

Publications for SLC25A46 Gene

  1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PMID: 16949250) Haitina T … Fredriksson R (Genomics 2006) 2 3 4
  2. Identification of FAP locus genes from chromosome 5q21. (PMID: 1651562) Kinzler KW … McKechnie D (Science (New York, N.Y.) 1991) 2 3 4
  3. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. (PMID: 26168012) Abrams AJ … Dallman JE (Nature genetics 2015) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. (PMID: 19584346) Vasan RS … Blankenberg S (JAMA 2009) 3 41

Products for SLC25A46 Gene

Sources for SLC25A46 Gene