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Aliases for SLC25A46 Gene

Aliases for SLC25A46 Gene

  • Solute Carrier Family 25 Member 46 2 3 5
  • Solute Carrier Family 25, Member 46 2
  • 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 and Hereditary Motor And Sensory Neuropathy Via.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SLC25A46 Gene

Genomics for SLC25A46 Gene

Regulatory Elements for SLC25A46 Gene

Enhancers for SLC25A46 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H111091 1.2 ENCODE 12.6 +354.7 354719 2 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 NFYC WDR36 RPS3AP21 TSLP ENSG00000249318 BCLAF1P1 ENSG00000253613 LOC100131280 NREP-AS1 SLC25A46 TMEM232
GH05H110053 1.1 Ensembl ENCODE 12.6 -684.0 -683977 1 PKNOX1 NFIB ZNF195 FEZF1 RAD21 ZNF350 RUNX3 ZNF174 ZNF114 ZIK1 SLC25A46 TMEM232 PIR60171 GC05P109911
GH05H110737 1.1 ENCODE 9.6 +1.0 982 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 SLC25A46 TMEM232 GC05P110816
GH05H110751 0.8 ENCODE 6 +14.3 14303 2 PKNOX1 TBL1XR1 BMI1 BATF ZNF207 FOS ATF7 ETV6 RUNX3 IKZF2 TMEM232 SLC25A46 GC05P110816
GH05H110736 0.5 Ensembl ENCODE 9.4 -1.2 -1209 0 TMEM232 SLC25A46 GC05M110647
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC25A46 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A46 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000185153 965 2200 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Location for SLC25A46 Gene

Chromosome:
5
Start:
110,738,136 bp from pter
End:
110,765,161 bp from pter
Size:
27,026 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=Translation N-terminally extended.; 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):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A46 Gene

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC25A46
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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 IDA,IEA 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

SuperPathways for SLC25A46 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC25A46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0090149 mitochondrial membrane fission IDA 26168012
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

Unigene Clusters for SLC25A46 Gene

Solute carrier family 25, member 46:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC25A46
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for SLC25A46 Gene

GeneLoc Exon Structure for
SLC25A46
ECgene alternative splicing isoforms for
SLC25A46

Expression for SLC25A46 Gene

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

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, PaxDb, and MOPED for SLC25A46 Gene



Protein tissue co-expression partners for SLC25A46 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A46 Gene:

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(4.4)
  • Skin(4.3)
  • Kidney(2.1)
  • Muscle(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia SLC25A46 33 34
  • 92.08 (n)
mouse
(Mus musculus)
Mammalia Slc25a46 33 16 34
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a46 33
  • 87.88 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A46 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A46 34
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A46 33 34
  • 82.49 (n)
chicken
(Gallus gallus)
Aves SLC25A46 33 34
  • 79.31 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A46 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a46 33
  • 71.58 (n)
zebrafish
(Danio rerio)
Actinopterygii slc25a46 33 34
  • 69.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8931 33 34
  • 49.47 (n)
CG5755 34
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002704 33
  • 49.19 (n)
worm
(Caenorhabditis elegans)
Secernentea Y40B1B.8 33 34
  • 49.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for SLC25A46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC25A46 Gene

No data available for Paralogs for SLC25A46 Gene

Variants for SLC25A46 Gene

Sequence variations from dbSNP and Humsavar for SLC25A46 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs200725073 Pathogenic, Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505] 110,761,271(+) GATAG(A/G/T)CATGG intron-variant, nc-transcript-variant, reference, missense
rs746681765 Pathogenic, Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505] 110,761,543(+) TGCAC(C/T)GCCTT nc-transcript-variant, reference, missense
VAR_075819 Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
VAR_075820 Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
rs1057518748 Pathogenic 110,761,530(+) TTGGA(A/T)ACAGT nc-transcript-variant, reference, missense

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)

Relevant External Links 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

(11) MalaCards diseases for SLC25A46 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary motor and sensory, type vib
  • hereditary motor and sensory neuropathy type vib
hereditary motor and sensory neuropathy via
  • charcot-marie-tooth disease type 6
skeletal tuberculosis
  • osteoarticular tuberculosis
laryngeal tuberculosis
  • tuberculosis, laryngeal
ancylostomiasis
  • ancylostoma duodenale infection
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC25A46

Genetic Association Database (GAD)
SLC25A46
Human Genome Epidemiology (HuGE) Navigator
SLC25A46
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A46
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 60
  2. Identification of FAP locus genes from chromosome 5q21. (PMID: 1651562) Kinzler KW … McKechnie D (Science (New York, N.Y.) 1991) 2 3 4 60
  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 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 45 60

Products for SLC25A46 Gene

Sources for SLC25A46 Gene

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