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Aliases for LETM2 Gene

Aliases for LETM2 Gene

  • Leucine Zipper And EF-Hand Containing Transmembrane Protein 2 2 3 5
  • Leucine Zipper-EF-Hand-Containing Transmembrane Protein 1-Like 4
  • Leucine Zipper-EF-Hand Containing Transmembrane Protein 2 2
  • LETM1 And EF-Hand Domain-Containing Protein 2 4

External Ids for LETM2 Gene

Previous GeneCards Identifiers for LETM2 Gene

  • GC08P038244
  • GC08P036778

Summaries for LETM2 Gene

GeneCards Summary for LETM2 Gene

LETM2 (Leucine Zipper And EF-Hand Containing Transmembrane Protein 2) is a Protein Coding gene. Diseases associated with LETM2 include Acute Hemorrhagic Leukoencephalitis. An important paralog of this gene is LETM1.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LETM2 Gene

Genomics for LETM2 Gene

Regulatory Elements for LETM2 Gene

Enhancers for LETM2 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
GH08G038764 2 FANTOM5 Ensembl ENCODE dbSUPER 15.9 +382.2 382190 7.5 HDGF HNRNPUL1 FOXA2 PKNOX1 WRNIP1 ARID4B SIN3A YBX1 FEZF1 ZNF2 DDHD2 TACC1 ENSG00000255201 LETM2 EIF4EBP1 FGFR1 LOC102723716 PLEKHA2 C8orf86 NSD3
GH08G037889 2.1 FANTOM5 Ensembl ENCODE dbSUPER 15.1 -488.3 -488300 17.5 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ENSG00000255201 DDHD2 RAB11FIP1 LOC728024 LETM2 ENSG00000253829 GOT1L1 RPS20P22 RNU6-323P NSD3
GH08G038379 1.8 FANTOM5 ENCODE dbSUPER 17.6 -2.7 -2675 8.1 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 DDHD2 RPS20P22 LETM2 LOC102723716 ENSG00000255201 TACC1 NSD3 ENSG00000272092
GH08G038361 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -23.1 -23070 2.8 HDGF TBP PKNOX1 MXI1 ZNF316 ARID3A POLR2A RELB CREM MAFK LETM2 DDHD2 ENSG00000254898 LOC102723716 RNU6-323P NSD3 GC08M038365 GC08P038348
GH08G038358 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.5 -26.4 -26392 2.2 BCOR JUNB ZNF121 PRDM6 IKZF1 ZNF524 KLF9 RELB IKZF2 PRDM1 LETM2 ENSG00000254898 DDHD2 RNU6-323P NSD3 GC08M038365 GC08P038348
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LETM2 on UCSC Golden Path with GeneCards custom track

Promoters for LETM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000330746 -7 2401 HDGF PKNOX1 FOXA2 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for LETM2 Gene

Chromosome:
8
Start:
38,386,207 bp from pter
End:
38,409,527 bp from pter
Size:
23,321 bases
Orientation:
Plus strand

Genomic View for LETM2 Gene

Genes around LETM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LETM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LETM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LETM2 Gene

Proteins for LETM2 Gene

  • Protein details for LETM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2VYF4-LETM2_HUMAN
    Recommended name:
    LETM1 domain-containing protein LETM2, mitochondrial
    Protein Accession:
    Q2VYF4
    Secondary Accessions:
    • A6NMG3
    • Q8NCR2
    • Q96LL1

    Protein attributes for LETM2 Gene

    Size:
    491 amino acids
    Molecular mass:
    55921 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LETM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LETM2 Gene

Post-translational modifications for LETM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LETM2 Gene

Domains & Families for LETM2 Gene

Gene Families for LETM2 Gene

Protein Domains for LETM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LETM2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LETM2: view

No data available for UniProtKB/Swiss-Prot for LETM2 Gene

Function for LETM2 Gene

Gene Ontology (GO) - Molecular Function for LETM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043022 ribosome binding IEA --
genes like me logo Genes that share ontologies with LETM2: view
genes like me logo Genes that share phenotypes with LETM2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LETM2 Gene

Localization for LETM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LETM2 Gene

Mitochondrion inner membrane; Single-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 LETM2 gene
Compartment Confidence
mitochondrion 3
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for LETM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IBA,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LETM2: view

Pathways & Interactions for LETM2 Gene

SuperPathways for LETM2 Gene

No Data Available

Interacting Proteins for LETM2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000428765%0d%0a9606.ENSP00000343746%0d%0a9606.ENSP00000340211%0d%0a9606.ENSP00000219150%0d%0a9606.ENSP00000261401%0d%0a9606.ENSP00000344562%0d%0a
Selected Interacting proteins: Q2VYF4-LETM2_HUMAN ENSP00000428765 for LETM2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for LETM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006875 cellular metal ion homeostasis IBA --
genes like me logo Genes that share ontologies with LETM2: view

No data available for Pathways by source and SIGNOR curated interactions for LETM2 Gene

Drugs & Compounds for LETM2 Gene

No Compound Related Data Available

Transcripts for LETM2 Gene

Unigene Clusters for LETM2 Gene

Leucine zipper-EF-hand containing transmembrane protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LETM2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: - - - -
SP5: -
SP6: - -
SP7: - - - -
SP8: - -
SP9:
SP10: -

Relevant External Links for LETM2 Gene

GeneLoc Exon Structure for
LETM2
ECgene alternative splicing isoforms for
LETM2

Expression for LETM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LETM2 Gene

mRNA differential expression in normal tissues according to GTEx for LETM2 Gene

This gene is overexpressed in Brain - Cerebellum (x6.5), Brain - Cerebellar Hemisphere (x6.4), and Testis (x4.3).

Protein differential expression in normal tissues from HIPED for LETM2 Gene

This gene is overexpressed in Retina (48.3) and Testis (20.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LETM2 Gene



Protein tissue co-expression partners for LETM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LETM2 Gene:

LETM2

SOURCE GeneReport for Unigene cluster for LETM2 Gene:

Hs.696457

Evidence on tissue expression from TISSUES for LETM2 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with LETM2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LETM2 Gene

Orthologs for LETM2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LETM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LETM2 34 35
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia LETM2 34 35
  • 88.5 (n)
cow
(Bos Taurus)
Mammalia LETM2 34 35
  • 86.47 (n)
mouse
(Mus musculus)
Mammalia Letm2 34 16 35
  • 80.17 (n)
rat
(Rattus norvegicus)
Mammalia Letm2 34
  • 79.63 (n)
oppossum
(Monodelphis domestica)
Mammalia LETM2 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
-- 35
  • 25 (a)
OneToMany
chicken
(Gallus gallus)
Aves LETM2 34 35
  • 66.3 (n)
lizard
(Anolis carolinensis)
Reptilia LETM2 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia letm2 34
  • 63.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30798 34
zebrafish
(Danio rerio)
Actinopterygii letm2 34 35
  • 57.89 (n)
Dr.26418 34
fruit fly
(Drosophila melanogaster)
Insecta Letm1 35
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea letm-1 35
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YLH47 35
  • 24 (a)
ManyToMany
MDM38 35
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
OneToMany
Species where no ortholog for LETM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 LETM2 Gene

ENSEMBL:
Gene Tree for LETM2 (if available)
TreeFam:
Gene Tree for LETM2 (if available)

Paralogs for LETM2 Gene

Paralogs for LETM2 Gene

(2) SIMAP similar genes for LETM2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with LETM2: view

Variants for LETM2 Gene

Sequence variations from dbSNP and Humsavar for LETM2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000202792 -- 38,392,005(+) TAGAA(G/T)AATTT intron-variant
rs1000365460 -- 38,402,697(+) TACAA(C/T)ATGCA intron-variant, upstream-variant-2KB
rs1000448269 -- 38,387,358(+) ATGGA(C/G)ATGGG intron-variant, utr-variant-5-prime
rs1000497460 -- 38,397,607(+) TCAGG(G/T)TGGAA intron-variant
rs1000592143 -- 38,408,799(+) ATAAT(G/T)AAGCT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LETM2 Gene

Variant ID Type Subtype PubMed ID
esv3616924 CNV loss 21293372
esv3616925 CNV loss 21293372

Variation tolerance for LETM2 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LETM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LETM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LETM2 Gene

Disorders for LETM2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LETM2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acute hemorrhagic leukoencephalitis
  • acute haemorrhagic leucoencephalitis of weston hurst
- elite association - COSMIC cancer census association via MalaCards
Search LETM2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LETM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LETM2
genes like me logo Genes that share disorders with LETM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LETM2 Gene

Publications for LETM2 Gene

  1. WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. (PMID: 11549311) Stec I. … den Dunnen J.T. (Genomics 2001) 2 3 64
  2. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. (PMID: 26354767) Bailey M.L. … Hieter P. (Genetics 2015) 3 64
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64
  4. Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. (PMID: 18628306) Tamai S. … Oka T. (J. Cell Sci. 2008) 3 64
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4 64

Products for LETM2 Gene

Sources for LETM2 Gene

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