APOH (apolipoprotein H) - Rat Genome Database
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Gene: APOH (apolipoprotein H) Homo sapiens
Analyze
Symbol: APOH
Name: apolipoprotein H
RGD ID: 1321637
HGNC Page HGNC
Description: Exhibits identical protein binding activity; lipoprotein lipase activator activity; and phospholipid binding activity. Involved in several processes, including blood coagulation, intrinsic pathway; negative regulation of apoptotic process; and regulation of blood coagulation. Localizes to several cellular components, including chylomicron; high-density lipoprotein particle; and very-low-density lipoprotein particle. Implicated in antiphospholipid syndrome; myocardial infarction; and peripheral vascular disease. Biomarker of arteriosclerosis; diabetes mellitus; diabetic retinopathy; macular retinal edema; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: activated protein C-binding protein; anticardiolipin cofactor; APC inhibitor; apo-H; apolipoprotein H (beta-2-glycoprotein I); B2G1; B2GP1; B2GPI; beta(2)GPI; beta-2-glycoprotein 1; BG
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 Ensembl1766,212,033 - 66,256,525 (-)EnsemblGRCh38hg38GRCh38
GRCh381766,212,033 - 66,229,415 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371764,208,151 - 64,225,533 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361761,638,609 - 61,656,018 (-)NCBINCBI36hg18NCBI36
Build 341761,638,613 - 61,655,992NCBI
Celera1760,780,183 - 60,797,591 (-)NCBI
Cytogenetic Map17q24.2NCBI
HuRef1759,599,926 - 59,617,004 (-)NCBIHuRef
CHM1_11764,272,419 - 64,289,828 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:222615   PMID:1339416   PMID:1426288   PMID:1582254   PMID:1602135   PMID:1650181   PMID:1655523   PMID:1748314   PMID:1777418   PMID:2349221   PMID:3361230   PMID:4052628  
PMID:6403535   PMID:6587378   PMID:7078428   PMID:7417307   PMID:8099061   PMID:8139027   PMID:8460120   PMID:8989432   PMID:9058203   PMID:9063752   PMID:9155091   PMID:9225969  
PMID:9269765   PMID:9352386   PMID:9596664   PMID:9727058   PMID:9914524   PMID:10508150   PMID:10562535   PMID:10809787   PMID:11434778   PMID:11686326   PMID:11816715   PMID:11953211  
PMID:12031135   PMID:12038453   PMID:12124280   PMID:12139935   PMID:12235181   PMID:12362233   PMID:12371681   PMID:12428105   PMID:12440522   PMID:12441378   PMID:12471146   PMID:12477932  
PMID:12495080   PMID:12495081   PMID:12562869   PMID:12571857   PMID:12590955   PMID:12605674   PMID:12648080   PMID:12673579   PMID:12807892   PMID:12887738   PMID:12918732   PMID:12970918  
PMID:14601646   PMID:14644075   PMID:14707422   PMID:14718574   PMID:14719180   PMID:14726399   PMID:14760718   PMID:14768953   PMID:15025925   PMID:15084671   PMID:15094940   PMID:15252864  
PMID:15486070   PMID:15488942   PMID:15489334   PMID:15507264   PMID:15522884   PMID:15534879   PMID:15641049   PMID:15653437   PMID:15821830   PMID:15916797   PMID:15956288   PMID:16038107  
PMID:16159595   PMID:16199891   PMID:16335952   PMID:16480936   PMID:16502470   PMID:16603439   PMID:16625500   PMID:16686261   PMID:16724168   PMID:16740002   PMID:16855163   PMID:16879209  
PMID:16905548   PMID:16938165   PMID:16960938   PMID:17053060   PMID:17057945   PMID:17096706   PMID:17200780   PMID:17255364   PMID:17469158   PMID:17603016   PMID:17662972   PMID:17715943  
PMID:17726161   PMID:17872974   PMID:18029348   PMID:18029906   PMID:18034767   PMID:18073216   PMID:18093092   PMID:18205270   PMID:18328538   PMID:18383370   PMID:18452581   PMID:18495556  
PMID:18521522   PMID:18624398   PMID:18676959   PMID:18777117   PMID:18822289   PMID:18996102   PMID:19002041   PMID:19052923   PMID:19069167   PMID:19132787   PMID:19248095   PMID:19275896  
PMID:19350132   PMID:19578796   PMID:19676115   PMID:19694946   PMID:19706343   PMID:19706887   PMID:19715922   PMID:19758193   PMID:19805618   PMID:19851667   PMID:19878946   PMID:19913121  
PMID:19965629   PMID:20004024   PMID:20026018   PMID:20029801   PMID:20089041   PMID:20140737   PMID:20204408   PMID:20223219   PMID:20237496   PMID:20440842   PMID:20539917   PMID:20551380  
PMID:20581778   PMID:20601596   PMID:20602615   PMID:20628086   PMID:20629942   PMID:20665665   PMID:20874780   PMID:20979592   PMID:21240499   PMID:21454452   PMID:21478209   PMID:21498672  
PMID:21501325   PMID:21535391   PMID:21602492   PMID:21618459   PMID:21899894   PMID:21999151   PMID:22056596   PMID:22246055   PMID:22358146   PMID:22394675   PMID:22399073   PMID:22427365  
PMID:22635228   PMID:22635233   PMID:22940059   PMID:22956423   PMID:22964479   PMID:23214196   PMID:23279374   PMID:23376485   PMID:23467542   PMID:23533145   PMID:23578283   PMID:23692565  
PMID:23713583   PMID:23954892   PMID:24097068   PMID:24120690   PMID:24165912   PMID:24275099   PMID:24315780   PMID:24472415   PMID:24661363   PMID:24685231   PMID:24905490   PMID:25071084  
PMID:25081279   PMID:25256745   PMID:25405208   PMID:25556540   PMID:26045739   PMID:26261630   PMID:26670100   PMID:26711810   PMID:26900811   PMID:27030319   PMID:27063992   PMID:27068509  
PMID:27140515   PMID:27297331   PMID:27559042   PMID:27770664   PMID:28004973   PMID:28079888   PMID:28363116   PMID:28514442   PMID:28667788   PMID:28731130   PMID:28811580   PMID:29350259  
PMID:30074200   PMID:30442725   PMID:30626470   PMID:31134087   PMID:31527615   PMID:32518155   PMID:32814053   PMID:32938215   PMID:33115273  


Genomics

Comparative Map Data
APOH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1766,212,033 - 66,256,525 (-)EnsemblGRCh38hg38GRCh38
GRCh381766,212,033 - 66,229,415 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371764,208,151 - 64,225,533 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361761,638,609 - 61,656,018 (-)NCBINCBI36hg18NCBI36
Build 341761,638,613 - 61,655,992NCBI
Celera1760,780,183 - 60,797,591 (-)NCBI
Cytogenetic Map17q24.2NCBI
HuRef1759,599,926 - 59,617,004 (-)NCBIHuRef
CHM1_11764,272,419 - 64,289,828 (-)NCBICHM1_1
Apoh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911108,286,123 - 108,305,222 (+)NCBIGRCm39mm39
GRCm39 Ensembl11108,234,180 - 108,305,222 (+)Ensembl
GRCm3811108,395,297 - 108,414,396 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11108,343,354 - 108,414,396 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711108,256,611 - 108,275,710 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611108,211,403 - 108,230,481 (+)NCBImm8
Celera11120,134,821 - 120,148,689 (+)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1171.8NCBI
Apoh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21093,342,435 - 93,356,334 (+)NCBI
Rnor_6.0 Ensembl1096,639,924 - 96,653,938 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01096,640,013 - 96,653,939 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01096,364,217 - 96,378,118 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41097,725,088 - 97,739,213 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11097,739,457 - 97,753,582 (+)NCBI
Celera1092,007,324 - 92,020,973 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Apoh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554785,610,164 - 5,626,020 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554785,612,258 - 5,626,061 (-)NCBIChiLan1.0ChiLan1.0
APOH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11765,365,250 - 65,382,483 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1765,365,250 - 65,382,483 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01760,154,389 - 60,171,762 (-)NCBIMhudiblu_PPA_v0panPan3
APOH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1914,082,648 - 14,095,186 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl914,082,541 - 14,095,185 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha914,976,443 - 14,988,978 (+)NCBI
ROS_Cfam_1.0915,744,714 - 15,757,283 (+)NCBI
UMICH_Zoey_3.1914,691,324 - 14,703,853 (+)NCBI
UNSW_CanFamBas_1.0912,829,414 - 12,841,962 (-)NCBI
UU_Cfam_GSD_1.0912,830,254 - 12,842,800 (-)NCBI
Apoh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440560212,499,435 - 12,511,134 (-)NCBI
SpeTri2.0NW_0049365416,683,483 - 6,695,094 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1212,827,201 - 12,839,175 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11212,827,195 - 12,839,172 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21213,142,347 - 13,154,323 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APOH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11655,209,142 - 55,231,176 (+)NCBI
Apoh
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248702,082,050 - 2,096,220 (+)NCBI

Position Markers
RH66220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,208,792 - 64,208,930UniSTSGRCh37
Build 361761,639,254 - 61,639,392RGDNCBI36
Celera1760,780,828 - 60,780,966RGD
Cytogenetic Map17q24.2UniSTS
HuRef1759,600,571 - 59,600,709UniSTS
GeneMap99-GB4 RH Map17416.01UniSTS
RH11628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,210,573 - 64,210,694UniSTSGRCh37
Build 361761,641,035 - 61,641,156RGDNCBI36
Celera1760,782,609 - 60,782,730RGD
Cytogenetic Map17q24.2UniSTS
HuRef1759,602,352 - 59,602,473UniSTS
GeneMap99-GB4 RH Map17414.3UniSTS
GDB:206667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,210,719 - 64,210,865UniSTSGRCh37
Build 361761,641,181 - 61,641,327RGDNCBI36
Celera1760,782,755 - 60,782,901RGD
Cytogenetic Map17q24.2UniSTS
HuRef1759,602,498 - 59,602,644UniSTS
RH47133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,216,729 - 64,216,860UniSTSGRCh37
Build 361761,647,191 - 61,647,322RGDNCBI36
Celera1760,788,763 - 60,788,894RGD
Cytogenetic Map17q24.2UniSTS
HuRef1759,608,508 - 59,608,639UniSTS
GeneMap99-GB4 RH Map17414.29UniSTS
G43003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371764,224,161 - 64,225,530UniSTSGRCh37
Celera1760,796,196 - 60,797,565UniSTS
Cytogenetic Map17q24.2UniSTS
HuRef1759,615,684 - 59,616,978UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:262
Count of miRNA genes:211
Interacting mature miRNAs:218
Transcripts:ENST00000205948, ENST00000577982, ENST00000581797, ENST00000585162
Prediction methods:Microtar, Miranda, Rnahybrid
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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 404 404 2 404
Medium 46 96 41 39 89 39 8 3 2 51 4 72 8 3
Low 926 471 221 25 341 9 308 200 279 166 297 581 18 120 220 1 1
Below cutoff 1126 1195 656 86 559 7 1651 1062 1856 98 745 505 83 492 1126 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY322156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY376239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG566874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM005736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM212425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M62839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X58100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000205948   ⟹   ENSP00000205948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1766,212,033 - 66,229,415 (-)Ensembl
RefSeq Acc Id: ENST00000577982   ⟹   ENSP00000464301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1766,220,614 - 66,256,525 (-)Ensembl
RefSeq Acc Id: ENST00000581797   ⟹   ENSP00000463553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1766,216,791 - 66,228,637 (-)Ensembl
RefSeq Acc Id: ENST00000585162   ⟹   ENSP00000462260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1766,212,039 - 66,220,630 (-)Ensembl
RefSeq Acc Id: NM_000042   ⟹   NP_000033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381766,212,033 - 66,229,415 (-)NCBI
GRCh371764,208,147 - 64,225,556 (-)ENTREZGENE
GRCh371764,208,147 - 64,225,556 (-)NCBI
Build 361761,638,609 - 61,656,018 (-)NCBI Archive
HuRef1759,599,926 - 59,617,004 (-)ENTREZGENE
CHM1_11764,272,419 - 64,289,828 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000033   ⟸   NM_000042
- Peptide Label: precursor
- UniProtKB: P02749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000463553   ⟸   ENST00000581797
RefSeq Acc Id: ENSP00000462260   ⟸   ENST00000585162
RefSeq Acc Id: ENSP00000205948   ⟸   ENST00000205948
RefSeq Acc Id: ENSP00000464301   ⟸   ENST00000577982
Protein Domains
Sushi

Promoters
RGD ID:6852300
Promoter ID:EP73957
Type:initiation region
Name:HS_APOH
Description:Apolipoprotein H (beta-2-glycoprotein I).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361761,655,979 - 61,656,039EPD
RGD ID:7236071
Promoter ID:EPDNEW_H23781
Type:initiation region
Name:APOH_1
Description:apolipoprotein H
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
GRCh381766,229,399 - 66,229,459EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000042.2(APOH):c.796G>T (p.Val266Leu) single nucleotide variant APOH POLYMORPHISM [RCV000017417] Chr17:66214639 [GRCh38]
Chr17:64210757 [GRCh37]
Chr17:17q24.2
benign
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 copy number gain See cases [RCV000052485] Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24
pathogenic
NM_000042.3(APOH):c.112A>G (p.Lys38Glu) single nucleotide variant not provided [RCV000082872] Chr17:66228149 [GRCh38]
Chr17:64224267 [GRCh37]
Chr17:17q24.2
likely pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1 copy number loss See cases [RCV000140815] Chr17:64634771..67686888 [GRCh38]
Chr17:62649313..65683004 [GRCh37]
Chr17:60061351..63113466 [NCBI36]
Chr17:17q24.1-24.2
pathogenic
GRCh37/hg19 17q24.1-24.2(chr17:63764889-64931712)x3 copy number gain See cases [RCV000448965] Chr17:63764889..64931712 [GRCh37]
Chr17:17q24.1-24.2
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-24.2(chr17:63623939-64633308)x3 copy number gain not provided [RCV000683951] Chr17:63623939..64633308 [GRCh37]
Chr17:17q24.1-24.2
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000042.3(APOH):c.479C>A (p.Ala160Asp) single nucleotide variant not provided [RCV000961515] Chr17:66220679 [GRCh38]
Chr17:64216797 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 copy number gain not provided [RCV000752158] Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2
pathogenic
NM_000042.3(APOH):c.159G>T (p.Pro53=) single nucleotide variant not provided [RCV000966034] Chr17:66228102 [GRCh38]
Chr17:64224220 [GRCh37]
Chr17:17q24.2
benign
NM_000042.3(APOH):c.224A>G (p.Asn75Ser) single nucleotide variant not provided [RCV000950824] Chr17:66228037 [GRCh38]
Chr17:64224155 [GRCh37]
Chr17:17q24.2
benign
NM_000042.3(APOH):c.338+10T>G single nucleotide variant not provided [RCV000961516] Chr17:66226018 [GRCh38]
Chr17:64222136 [GRCh37]
Chr17:17q24.2
benign
NM_000042.3(APOH):c.396G>A (p.Pro132=) single nucleotide variant not provided [RCV000908834] Chr17:66223717 [GRCh38]
Chr17:64219835 [GRCh37]
Chr17:17q24.2
benign
NM_000042.3(APOH):c.64+8C>T single nucleotide variant not provided [RCV000961517] Chr17:66229308 [GRCh38]
Chr17:64225426 [GRCh37]
Chr17:17q24.2
benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
GRCh37/hg19 17q24.1-24.2(chr17:64094511-64805553)x3 copy number gain See cases [RCV000790563] Chr17:64094511..64805553 [GRCh37]
Chr17:17q24.1-24.2
uncertain significance
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000042.3(APOH):c.477A>G (p.Ser159=) single nucleotide variant not provided [RCV000962550] Chr17:66220681 [GRCh38]
Chr17:64216799 [GRCh37]
Chr17:17q24.2
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:616 AgrOrtholog
COSMIC APOH COSMIC
Ensembl Genes ENSG00000091583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000205948 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000462260 UniProtKB/TrEMBL
  ENSP00000463553 UniProtKB/TrEMBL
  ENSP00000464301 UniProtKB/TrEMBL
Ensembl Transcript ENST00000205948 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000577982 UniProtKB/TrEMBL
  ENST00000581797 UniProtKB/TrEMBL
  ENST00000585162 UniProtKB/TrEMBL
GTEx ENSG00000091583 GTEx
HGNC ID HGNC:616 ENTREZGENE
Human Proteome Map APOH Human Proteome Map
InterPro Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 350 ENTREZGENE
OMIM 138700 OMIM
Pfam Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24903 PharmGKB
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NKM6_HUMAN UniProtKB/TrEMBL
  APOH_HUMAN UniProtKB/Swiss-Prot
  J3KS17_HUMAN UniProtKB/TrEMBL
  J3QLI0_HUMAN UniProtKB/TrEMBL
  J3QRN2_HUMAN UniProtKB/TrEMBL
  P02749 ENTREZGENE
UniProt Secondary B2R9M3 UniProtKB/Swiss-Prot
  Q9UCN7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 APOH  apolipoprotein H    apolipoprotein H (beta-2-glycoprotein I)  Symbol and/or name change 5135510 APPROVED