LDAH (lipid droplet associated hydrolase) - Rat Genome Database
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Gene: LDAH (lipid droplet associated hydrolase) Homo sapiens
Analyze
Symbol: LDAH
Name: lipid droplet associated hydrolase
RGD ID: 1605056
HGNC Page HGNC
Description: Predicted to have lipase activity. Predicted to be involved in lipid catabolic process. Predicted to localize to lipid droplet; INTERACTS WITH (-)-epigallocatechin 3-gallate; aflatoxin B2; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C2orf43; FLJ21820; hLDAH; hypothetical protein LOC60526; lipid droplet-associated hydrolase; lipid droplet-associated serine hydrolase; UPF0554 protein C2orf43
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl220,684,014 - 20,823,130 (-)EnsemblGRCh38hg38GRCh38
GRCh38220,682,489 - 20,823,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37220,883,791 - 21,022,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36220,748,299 - 20,886,308 (-)NCBINCBI36hg18NCBI36
Celera220,747,203 - 20,885,172 (-)NCBI
Cytogenetic Map2p24.1NCBI
HuRef220,641,762 - 20,779,692 (-)NCBIHuRef
CHM1_1220,813,163 - 20,952,198 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
endoplasmic reticulum  (IEA)
lipid droplet  (IBA,ISO,ISS)

Molecular Function
lipase activity  (ISO,ISS)

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17135363   PMID:17207965   PMID:20339536   PMID:20379614   PMID:20676098   PMID:21059979   PMID:21873635   PMID:22662242   PMID:24357060   PMID:29955894  
PMID:30169630   PMID:31091453  


Genomics

Comparative Map Data
LDAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl220,684,014 - 20,823,130 (-)EnsemblGRCh38hg38GRCh38
GRCh38220,682,489 - 20,823,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37220,883,791 - 21,022,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36220,748,299 - 20,886,308 (-)NCBINCBI36hg18NCBI36
Celera220,747,203 - 20,885,172 (-)NCBI
Cytogenetic Map2p24.1NCBI
HuRef220,641,762 - 20,779,692 (-)NCBIHuRef
CHM1_1220,813,163 - 20,952,198 (-)NCBICHM1_1
Ldah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39128,258,095 - 8,350,811 (+)NCBIGRCm39mm39
GRCm39 Ensembl128,258,107 - 8,335,759 (+)Ensembl
GRCm38128,208,095 - 8,300,811 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl128,208,107 - 8,285,759 (+)EnsemblGRCm38mm10GRCm38
MGSCv37128,214,913 - 8,292,565 (+)NCBIGRCm37mm9NCBIm37
MGSCv36128,234,131 - 8,311,760 (+)NCBImm8
Celera128,602,897 - 8,679,608 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
Ldah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2631,082,045 - 31,166,625 (+)NCBI
Rnor_6.0 Ensembl633,407,248 - 33,491,725 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0633,407,223 - 33,491,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0643,191,256 - 43,259,692 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0643,274,971 - 43,276,852 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4631,758,976 - 31,845,613 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1631,761,928 - 31,848,566 (+)NCBI
Celera630,533,370 - 30,616,806 (+)NCBICelera
Cytogenetic Map6q14NCBI
Ldah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554693,160,497 - 3,272,643 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554693,161,691 - 3,277,018 (-)NCBIChiLan1.0ChiLan1.0
LDAH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A20,784,999 - 20,922,673 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A20,785,002 - 20,923,390 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A20,668,816 - 20,808,519 (-)NCBIMhudiblu_PPA_v0panPan3
LDAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1715,644,678 - 15,747,607 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11715,642,809 - 15,747,652 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ldah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493649310,706,501 - 10,795,151 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LDAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3117,463,809 - 117,580,057 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13117,463,795 - 117,575,422 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23125,415,972 - 125,534,850 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LDAH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11486,843,370 - 87,008,966 (+)NCBI
ChlSab1.1 Ensembl1486,866,459 - 87,010,009 (+)Ensembl
Ldah
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247383,303,520 - 3,428,598 (-)NCBI

Position Markers
SHGC-12237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,936,067 - 20,936,315UniSTSGRCh37
Build 36220,799,548 - 20,799,796RGDNCBI36
Celera220,798,454 - 20,798,702RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,693,009 - 20,693,257UniSTS
TNG Radiation Hybrid Map214760.0UniSTS
Stanford-G3 RH Map2623.0UniSTS
NCBI RH Map2103.8UniSTS
RH65141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,935,486 - 20,935,664UniSTSGRCh37
Build 36220,798,967 - 20,799,145RGDNCBI36
Celera220,797,873 - 20,798,051RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,692,428 - 20,692,606UniSTS
GeneMap99-GB4 RH Map278.26UniSTS
NCBI RH Map2101.9UniSTS
RH99120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,885,111 - 20,885,237UniSTSGRCh37
Build 36220,748,592 - 20,748,718RGDNCBI36
Celera220,747,496 - 20,747,622RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,642,055 - 20,642,181UniSTS
GeneMap99-GB4 RH Map273.24UniSTS
AFMa070za9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,917,437 - 20,917,594UniSTSGRCh37
Build 36220,780,918 - 20,781,075RGDNCBI36
Celera220,779,824 - 20,779,981RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,674,378 - 20,674,535UniSTS
Whitehead-RH Map297.9UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2101.3UniSTS
STS-ETM1231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,995,590 - 20,995,779UniSTSGRCh37
Build 36220,859,071 - 20,859,260RGDNCBI36
Celera220,857,938 - 20,858,125RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,752,461 - 20,752,646UniSTS
STS-ETM1240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,937,880 - 20,938,160UniSTSGRCh37
Build 36220,801,361 - 20,801,641RGDNCBI36
Celera220,800,267 - 20,800,556RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,694,822 - 20,695,090UniSTS
RH44584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,884,334 - 20,884,466UniSTSGRCh37
Build 36220,747,815 - 20,747,947RGDNCBI36
Celera220,746,719 - 20,746,851RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,641,278 - 20,641,410UniSTS
GeneMap99-GB4 RH Map274.48UniSTS
NCBI RH Map298.8UniSTS
SHGC-33648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,884,185 - 20,884,311UniSTSGRCh37
Build 36220,747,666 - 20,747,792RGDNCBI36
Celera220,746,570 - 20,746,696RGD
HuRef220,641,129 - 20,641,255UniSTS
TNG Radiation Hybrid Map214769.0UniSTS
GeneMap99-GB4 RH Map278.26UniSTS
Whitehead-RH Map299.3UniSTS
GeneMap99-G3 RH Map2642.0UniSTS
WI-11147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,978,197 - 20,978,301UniSTSGRCh37
Build 36220,841,678 - 20,841,782RGDNCBI36
Celera220,840,545 - 20,840,649RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,735,072 - 20,735,176UniSTS
Whitehead-RH Map297.0UniSTS
RH66466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,926,496 - 20,926,604UniSTSGRCh37
Build 36220,789,977 - 20,790,085RGDNCBI36
Celera220,788,883 - 20,788,991RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,683,437 - 20,683,545UniSTS
GeneMap99-GB4 RH Map276.98UniSTS
NCBI RH Map2101.9UniSTS
B293ZC9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,995,596 - 20,995,780UniSTSGRCh37
Build 36220,859,077 - 20,859,261RGDNCBI36
Celera220,857,944 - 20,858,126RGD
Cytogenetic Map2p24.1UniSTS
HuRef220,752,467 - 20,752,647UniSTS
Whitehead-RH Map296.1UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map298.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2324
Count of miRNA genes:1052
Interacting mature miRNAs:1290
Transcripts:ENST00000237822, ENST00000381090, ENST00000402479, ENST00000403006, ENST00000412261, ENST00000419825, ENST00000432947, ENST00000435420, ENST00000440866, ENST00000470099, ENST00000541941
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 350 257 357 100 807 94 870 133 546 239 407 363 20 1 48 539 5
Low 2086 2627 1369 524 1076 371 3128 1664 3185 180 1039 1248 155 1156 1892 1 2
Below cutoff 106 68 357 400 2 6 1 357

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW243875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC421670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000237822   ⟹   ENSP00000237822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,031 - 20,823,101 (-)Ensembl
RefSeq Acc Id: ENST00000381090   ⟹   ENSP00000370480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,044 - 20,823,114 (-)Ensembl
RefSeq Acc Id: ENST00000402479   ⟹   ENSP00000385951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,774,858 - 20,823,089 (-)Ensembl
RefSeq Acc Id: ENST00000403006   ⟹   ENSP00000384267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,028 - 20,823,104 (-)Ensembl
RefSeq Acc Id: ENST00000412261   ⟹   ENSP00000400910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,740,052 - 20,823,122 (-)Ensembl
RefSeq Acc Id: ENST00000419825   ⟹   ENSP00000414710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,788,889 - 20,823,110 (-)Ensembl
RefSeq Acc Id: ENST00000432947   ⟹   ENSP00000396911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,701,575 - 20,823,101 (-)Ensembl
RefSeq Acc Id: ENST00000435420   ⟹   ENSP00000388635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,014 - 20,823,130 (-)Ensembl
RefSeq Acc Id: ENST00000440866   ⟹   ENSP00000400340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,014 - 20,823,130 (-)Ensembl
RefSeq Acc Id: ENST00000470099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,412 - 20,739,991 (-)Ensembl
RefSeq Acc Id: ENST00000541941   ⟹   ENSP00000440570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,014 - 20,823,130 (-)Ensembl
RefSeq Acc Id: ENST00000619656   ⟹   ENSP00000483067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,684,014 - 20,823,130 (-)Ensembl
RefSeq Acc Id: ENST00000626491   ⟹   ENSP00000487592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl220,686,625 - 20,823,101 (-)Ensembl
RefSeq Acc Id: NM_001282719   ⟹   NP_001269648
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282720   ⟹   NP_001269649
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282721   ⟹   NP_001269650
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282722   ⟹   NP_001269651
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282723   ⟹   NP_001269652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282724   ⟹   NP_001269653
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021925   ⟹   NP_068744
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
GRCh37220,883,788 - 21,022,890 (-)NCBI
Build 36220,748,299 - 20,886,308 (-)NCBI Archive
Celera220,747,203 - 20,885,172 (-)RGD
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104233
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,031 - 20,823,101 (-)NCBI
HuRef220,640,718 - 20,779,755 (-)NCBI
CHM1_1220,813,163 - 20,952,198 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533014   ⟹   XP_011531316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,028 - 20,823,139 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738874
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,682,489 - 20,823,139 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738875
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,023 - 20,823,139 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738876
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,024 - 20,823,089 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738877
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,023 - 20,823,089 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738878
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,023 - 20,823,063 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738879
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,023 - 20,823,089 (-)NCBI
Sequence:
RefSeq Acc Id: XR_939700
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,024 - 20,823,139 (-)NCBI
Sequence:
RefSeq Acc Id: XR_939701
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,024 - 20,823,139 (-)NCBI
Sequence:
RefSeq Acc Id: XR_939702
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,023 - 20,823,139 (-)NCBI
Sequence:
RefSeq Acc Id: XR_939703
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,684,028 - 20,823,139 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_068744   ⟸   NM_021925
- Peptide Label: isoform a
- UniProtKB: Q9H6V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269651   ⟸   NM_001282722
- Peptide Label: isoform d
- UniProtKB: Q9H6V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269650   ⟸   NM_001282721
- Peptide Label: isoform d
- UniProtKB: Q9H6V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269649   ⟸   NM_001282720
- Peptide Label: isoform c
- UniProtKB: Q9H6V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269652   ⟸   NM_001282723
- Peptide Label: isoform e
- UniProtKB: B4DRG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269653   ⟸   NM_001282724
- Peptide Label: isoform f
- UniProtKB: B4DWE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269648   ⟸   NM_001282719
- Peptide Label: isoform b
- UniProtKB: A0A0A0MSH6 (UniProtKB/TrEMBL),   B4DS38 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531316   ⟸   XM_011533014
- Peptide Label: isoform X1
- UniProtKB: Q9H6V9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000440570   ⟸   ENST00000541941
RefSeq Acc Id: ENSP00000400910   ⟸   ENST00000412261
RefSeq Acc Id: ENSP00000400340   ⟸   ENST00000440866
RefSeq Acc Id: ENSP00000487592   ⟸   ENST00000626491
RefSeq Acc Id: ENSP00000385951   ⟸   ENST00000402479
RefSeq Acc Id: ENSP00000384267   ⟸   ENST00000403006
RefSeq Acc Id: ENSP00000414710   ⟸   ENST00000419825
RefSeq Acc Id: ENSP00000396911   ⟸   ENST00000432947
RefSeq Acc Id: ENSP00000483067   ⟸   ENST00000619656
RefSeq Acc Id: ENSP00000237822   ⟸   ENST00000237822
RefSeq Acc Id: ENSP00000370480   ⟸   ENST00000381090
RefSeq Acc Id: ENSP00000388635   ⟸   ENST00000435420

Promoters
RGD ID:6859728
Promoter ID:EPDNEW_H3028
Type:initiation region
Name:LDAH_1
Description:lipid droplet associated hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38220,823,101 - 20,823,161EPDNEW
RGD ID:6797221
Promoter ID:HG_KWN:31695
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000402479,   ENST00000403006,   OTTHUMT00000242861,   OTTHUMT00000323907,   OTTHUMT00000323908,   OTTHUMT00000323910,   UC002REA.1,   UC002REB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36220,886,081 - 20,886,581 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1 copy number loss See cases [RCV000139451] Chr2:16723596..21600734 [GRCh38]
Chr2:16904863..21823606 [GRCh37]
Chr2:16768344..21677111 [NCBI36]
Chr2:2p24.2-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1 copy number loss not provided [RCV000682157] Chr2:19905995..24762790 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_021925.4(LDAH):c.452G>A (p.Arg151Gln) single nucleotide variant not provided [RCV000971857] Chr2:20774826 [GRCh38]
Chr2:20974586 [GRCh37]
Chr2:2p24.1		 benign
GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1 copy number loss not provided [RCV000847885] Chr2:15631145..21729493 [GRCh37]
Chr2:2p24.3-24.1		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26145 AgrOrtholog
COSMIC LDAH COSMIC
Ensembl Genes ENSG00000118961 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000237822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370480 UniProtKB/TrEMBL
  ENSP00000384267 UniProtKB/TrEMBL
  ENSP00000385951 UniProtKB/TrEMBL
  ENSP00000388635 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000396911 UniProtKB/TrEMBL
  ENSP00000400340 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000400910 UniProtKB/TrEMBL
  ENSP00000414710 UniProtKB/TrEMBL
  ENSP00000440570 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483067 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487592 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000237822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381090 UniProtKB/TrEMBL
  ENST00000402479 UniProtKB/TrEMBL
  ENST00000403006 UniProtKB/TrEMBL
  ENST00000412261 UniProtKB/TrEMBL
  ENST00000419825 UniProtKB/TrEMBL
  ENST00000432947 UniProtKB/TrEMBL
  ENST00000435420 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000440866 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000541941 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619656 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000626491 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118961 GTEx
HGNC ID HGNC:26145 ENTREZGENE
Human Proteome Map LDAH Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDAH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:60526 UniProtKB/Swiss-Prot
NCBI Gene 60526 ENTREZGENE
OMIM 613570 OMIM
PANTHER PTHR13390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LIDHydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA147358698 PharmGKB
PROSITE LIPASE_SER UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSH6 ENTREZGENE, UniProtKB/TrEMBL
  B4DRG3 ENTREZGENE, UniProtKB/TrEMBL
  B4DS38 ENTREZGENE, UniProtKB/TrEMBL
  B4DWE2 ENTREZGENE, UniProtKB/TrEMBL
  B5MCE2_HUMAN UniProtKB/TrEMBL
  B5MCU4_HUMAN UniProtKB/TrEMBL
  B5MDU6_HUMAN UniProtKB/TrEMBL
  C9JHU6_HUMAN UniProtKB/TrEMBL
  C9JUM0_HUMAN UniProtKB/TrEMBL
  D3YTH1_HUMAN UniProtKB/TrEMBL
  LDAH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7ZA47 UniProtKB/Swiss-Prot
  B7ZAJ5 UniProtKB/Swiss-Prot
  D6W530 UniProtKB/Swiss-Prot
  E7EMH0 UniProtKB/TrEMBL
  E7ESN0 UniProtKB/Swiss-Prot
  Q53T37 UniProtKB/Swiss-Prot
  Q53T58 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-04-08 LDAH  lipid droplet associated hydrolase  C2orf43  chromosome 2 open reading frame 43  Symbol and/or name change 5135510 APPROVED
2015-04-08 C2orf43  chromosome 2 open reading frame 43  LDAH  lipid droplet associated hydrolase  Symbol and/or name change 5135510 APPROVED
2015-03-31 LDAH  lipid droplet associated hydrolase  C2orf43  chromosome 2 open reading frame 43  Symbol and/or name change 5135510 APPROVED