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Aliases for LDAH Gene

Aliases for LDAH Gene

  • Lipid Droplet Associated Hydrolase 2 3 5
  • Lipid Droplet-Associated Serine Hydrolase 3 4
  • C2orf43 3 4
  • HLDAH 3 4
  • Chromosome 2 Open Reading Frame 43 2
  • Lipid Droplet-Associated Hydrolase 3
  • UPF0554 Protein C2orf43 3
  • EC 3.1.1.- 4

External Ids for LDAH Gene

Previous HGNC Symbols for LDAH Gene

  • C2orf43

Summaries for LDAH Gene

GeneCards Summary for LDAH Gene

LDAH (Lipid Droplet Associated Hydrolase) is a Protein Coding gene. Diseases associated with LDAH include Defective Apolipoprotein B-100.

UniProtKB/Swiss-Prot for LDAH Gene

  • Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDAH Gene

Genomics for LDAH Gene

Regulatory Elements for LDAH Gene

Enhancers for LDAH 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
GH02G020674 1.5 Ensembl ENCODE dbSUPER 17.8 +146.6 146574 3.2 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF143 LDAH HS1BP3 GDF7 GC02P020678
GH02G020757 0.7 ENCODE 21.5 +65.3 65324 1.1 HLF MAX CEBPG ATF2 RAD21 JUND ATF3 ZNF416 HNF4G HNF4A LDAH GDF7 ENSG00000270100
GH02G020796 0.8 ENCODE 11.7 +26.3 26256 1.5 PKNOX1 ZSCAN4 MAX CEBPG BMI1 RAD21 RFX5 CTBP1 GATA3 NR2F6 LDAH ENSG00000270100
GH02G020727 1.2 Ensembl ENCODE 6.5 +94.8 94849 2.0 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 MXD4 MIER2 PPARG LDAH ENSG00000269976 ENSG00000270100
GH02G020821 1.2 ENCODE 6.4 -0.2 -171 3.1 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TTC32 LDAH GC02P020849
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LDAH on UCSC Golden Path with GeneCards custom track

Promoters for LDAH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000113869 336 1999 PKNOX1 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B DMAP1 YBX1 ZNF2

Genomic Location for LDAH Gene

Chromosome:
2
Start:
20,684,014 bp from pter
End:
20,823,137 bp from pter
Size:
139,124 bases
Orientation:
Minus strand

Genomic View for LDAH Gene

Genes around LDAH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LDAH Gene

Proteins for LDAH Gene

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

    Protein Symbol:
    Q9H6V9-LDAH_HUMAN
    Recommended name:
    Lipid droplet-associated hydrolase
    Protein Accession:
    Q9H6V9
    Secondary Accessions:
    • B7ZA47
    • B7ZAJ5
    • D6W530
    • E7ESN0
    • Q53T37
    • Q53T58

    Protein attributes for LDAH Gene

    Size:
    325 amino acids
    Molecular mass:
    37319 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LDAH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LDAH Gene

Post-translational modifications for LDAH Gene

  • Ubiquitination at posLast=5555
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LDAH Gene

Domains & Families for LDAH Gene

Protein Domains for LDAH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LDAH Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6V9

UniProtKB/Swiss-Prot:

LDAH_HUMAN :
  • Belongs to the AB hydrolase superfamily. LDAH family.
Family:
  • Belongs to the AB hydrolase superfamily. LDAH family.
genes like me logo Genes that share domains with LDAH: view

No data available for Gene Families for LDAH Gene

Function for LDAH Gene

Molecular function for LDAH Gene

UniProtKB/Swiss-Prot Function:
Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages.

Enzyme Numbers (IUBMB) for LDAH Gene

Gene Ontology (GO) - Molecular Function for LDAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016298 lipase activity ISS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with LDAH: view
genes like me logo Genes that share phenotypes with LDAH: view

Animal Models for LDAH Gene

MGI Knock Outs for LDAH:
  • Ldah tm1b(EUCOMM)Wtsi

Animal Model Products

miRNA for LDAH Gene

miRTarBase miRNAs that target LDAH

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LDAH Gene

Localization for LDAH Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDAH Gene

Lipid droplet. Endoplasmic reticulum. Note=Localizes to the endoplasmic reticulum in absence of lipid droplets and translocates to lipid droplets upon lipid storage induction. {ECO:0000250 UniProtKB:Q8BVA5}.

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 LDAH gene
Compartment Confidence
nucleus 3
endoplasmic reticulum 3
cytosol 3
golgi apparatus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for LDAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005811 lipid particle ISS,IBA --
genes like me logo Genes that share ontologies with LDAH: view

Pathways & Interactions for LDAH Gene

No Data Available

Interacting Proteins for LDAH Gene

Gene Ontology (GO) - Biological Process for LDAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0019915 lipid storage IBA --
genes like me logo Genes that share ontologies with LDAH: view

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

Drugs & Compounds for LDAH Gene

No Compound Related Data Available

Transcripts for LDAH Gene

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: -
SP2:
SP3: -
SP4: - -

Relevant External Links for LDAH Gene

GeneLoc Exon Structure for
LDAH
ECgene alternative splicing isoforms for
LDAH

Expression for LDAH Gene

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

Protein differential expression in normal tissues from HIPED for LDAH Gene

This gene is overexpressed in Adrenal (10.3) and Bone (8.0).

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



Protein tissue co-expression partners for LDAH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LDAH Gene:

LDAH

mRNA Expression by UniProt/SwissProt for LDAH Gene:

Q9H6V9-LDAH_HUMAN
Tissue specificity: Present in macrophage-rich areas in atherosclerotic lesionsv(at protein level).

Evidence on tissue expression from TISSUES for LDAH Gene

  • Nervous system(4.6)
  • Kidney(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with LDAH: 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 Phenotype-based relationships between genes and organs from Gene ORGANizer for LDAH Gene

Orthologs for LDAH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LDAH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf43 34
  • 99.38 (n)
C2orf43 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H2orf43 34
  • 88.78 (n)
C2ORF43 35
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C17H2orf43 34
  • 85.03 (n)
C2orf43 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1110057K04Rik 34 35
  • 76.56 (n)
Ldah 16
rat
(Rattus norvegicus)
Mammalia RGD1311648 34
  • 76.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf43 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H2ORF43 34 35
  • 61.27 (n)
lizard
(Anolis carolinensis)
Reptilia C2orf43 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf43 34
  • 59.96 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:195062 34
  • 56.39 (n)
C17H2orf43 35
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004435 34
  • 48.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9186 34 35
  • 46.83 (n)
worm
(Caenorhabditis elegans)
Secernentea F26A3.1 34 35
  • 43.54 (n)
F11C1.4 35
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G11620 34
  • 43.25 (n)
rice
(Oryza sativa)
Liliopsida Os01g0958800 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for LDAH 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LDAH Gene

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

Paralogs for LDAH Gene

No data available for Paralogs for LDAH Gene

Variants for LDAH Gene

Sequence variations from dbSNP and Humsavar for LDAH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000023420 -- 20,761,409(+) TAAGC(A/T)ACAAG intron-variant
rs1000025064 -- 20,690,957(+) TTAGC(A/G)AGATT intron-variant
rs1000063313 -- 20,778,864(+) TTTAA(C/G)TATGT intron-variant
rs1000070606 -- 20,735,054(+) AAGAC(A/T)TTTTC intron-variant
rs1000078662 -- 20,816,760(+) CAATA(A/G)TAACA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2030538 CNV deletion 18987734
esv2662336 CNV deletion 23128226
esv2719781 CNV deletion 23290073
esv2719782 CNV deletion 23290073
esv3553444 CNV deletion 23714750
esv3589999 CNV loss 21293372
esv3891625 CNV loss 25118596
nsv1116529 OTHER inversion 24896259
nsv477363 CNV novel sequence insertion 20440878

Variation tolerance for LDAH Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LDAH Gene

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

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

Disorders for LDAH Gene

MalaCards: The human disease database

(1) MalaCards diseases for LDAH Gene - From: GeneCards

Disorder Aliases PubMed IDs
defective apolipoprotein b-100
- elite association - COSMIC cancer census association via MalaCards
Search LDAH in MalaCards View complete list of genes associated with diseases

Relevant External Links for LDAH

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

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

Publications for LDAH Gene

  1. Novel lipid droplet-associated serine hydrolase regulates macrophage cholesterol mobilization. (PMID: 24357060) Goo Y.H. … Paul A. (Arterioscler. Thromb. Vasc. Biol. 2014) 2 3 4 64
  2. Roles and origins of leukocyte lipid bodies: proteomic and ultrastructural studies. (PMID: 17135363) Wan H.C. … Weller P.F. (FASEB J. 2007) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  5. Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population. (PMID: 22662242) Long Q.Z. … Liu X.G. (PLoS ONE 2012) 3 64

Products for LDAH Gene

Sources for LDAH Gene

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