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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 3
  • 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

  • SLC25A46 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

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.

No data available for UniProtKB/Swiss-Prot , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SLC25A46 on UCSC Golden Path with GeneCards custom track

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:
    No Data Available
    SequenceCaution:
    • Sequence=AAA03587.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC25A46 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A46 Gene

Proteomics data for SLC25A46 Gene at MOPED

Post-translational modifications for SLC25A46 Gene

  • Ubiquitination at Lys 197
  • 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

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

Function for SLC25A46 Gene

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A46 Gene COMPARTMENTS Subcellular localization image for SLC25A46 gene
Compartment Confidence
mitochondrion 5
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IDA 26168012
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:0008150 biological_process ND --
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:

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 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



SOURCE GeneReport for Unigene cluster for SLC25A46 Gene Hs.75639

genes like me logo Genes that share expression patterns with SLC25A46: view

Protein tissue co-expression partners for SLC25A46 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia SLC25A46 35
  • 82.49 (n)
  • 86.81 (a)
SLC25A46 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A46 35
  • 92.08 (n)
  • 94.14 (a)
SLC25A46 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a46 35
  • 87.88 (n)
  • 89 (a)
Slc25a46 16
Slc25a46 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC25A46 35
  • 99.68 (n)
  • 100 (a)
SLC25A46 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc25a46 35
  • 87.88 (n)
  • 89 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC25A46 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A46 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A46 35
  • 79.31 (n)
  • 81.03 (a)
SLC25A46 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A46 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a46 35
  • 71.58 (n)
  • 72.97 (a)
zebrafish
(Danio rerio)
Actinopterygii slc25a46 35
  • 69.44 (n)
  • 75 (a)
slc25a46 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002704 35
  • 49.19 (n)
  • 41.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8931 35
  • 49.47 (n)
  • 40.38 (a)
CG5755 36
  • 28 (a)
OneToMany
CG8931 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y40B1B.8 35
  • 49.84 (n)
  • 34.75 (a)
Y40B1B.8 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for SLC25A46:
  • 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
rs7376 -- 110,764,969(-) CAATG(A/C)TACTA utr-variant-3-prime
rs27121 -- 110,763,756(-) CTATC(A/G)GTCTT utr-variant-3-prime
rs27591 -- 110,760,238(-) aagtc(C/T)atggg intron-variant
rs27592 -- 110,757,217(-) AATGT(C/T)ACTTA intron-variant
rs244411 -- 110,742,779(+) TTGTT(C/T)ATAAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1839e1 CNV Complex 17122850
nsv525752 CNV Loss 19592680
nsv830446 CNV Loss 17160897
esv272991 CNV Insertion 20981092
esv268465 CNV Insertion 20981092

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

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

Disorders for SLC25A46 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SLC25A46 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, and DISEASES

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
  • ancylostomosis
- elite association - COSMIC cancer census association via MalaCards

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 UniProtKB/Swiss-Prot and 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 67
  2. Identification of FAP locus genes from chromosome 5q21. (PMID: 1651562) Kinzler K.W. … Nakamura Y. (Science 1991) 2 3
  3. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PMID: 1651563) Nishisho I. … Vogelstein B. (Science 1991) 2 3
  4. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. (PMID: 26168012) Abrams A.J. … Dallman J.E. (Nat. Genet. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SLC25A46 Gene

Sources for SLC25A46 Gene

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