ANGPTL3 (angiopoietin like 3) - Rat Genome Database
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Gene: ANGPTL3 (angiopoietin like 3) Homo sapiens
Analyze
Symbol: ANGPTL3
Name: angiopoietin like 3
RGD ID: 1346260
HGNC Page HGNC
Description: Exhibits growth factor activity; integrin binding activity; and phospholipase inhibitor activity. Involved in several processes, including glycerol metabolic process; lipid homeostasis; and negative regulation of lipase activity. Localizes to cell surface and extracellular space. Implicated in familial hypobetalipoproteinemia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANG-5; angiopoietin 5; angiopoietin-5; angiopoietin-like 3; angiopoietin-like protein 3; angiopoietin-related protein 3; ANGPT5; ANL3; FHBL2
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 Ensembl162,597,520 - 62,606,313 (+)EnsemblGRCh38hg38GRCh38
GRCh38162,597,520 - 62,606,313 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,063,191 - 63,071,984 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37163,063,158 - 63,071,976 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,835,775 - 62,843,768 (+)NCBINCBI36hg18NCBI36
Build 34162,775,207 - 62,783,201NCBI
Celera161,352,392 - 61,360,385 (+)NCBI
Cytogenetic Map1p31.3NCBI
HuRef161,175,226 - 61,184,044 (+)NCBIHuRef
CHM1_1163,178,532 - 63,187,341 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10644446   PMID:11877390   PMID:12477932   PMID:12518032   PMID:12565906   PMID:12975309   PMID:15340161   PMID:15489334   PMID:16335952   PMID:16505486   PMID:16531751   PMID:17110602  
PMID:17207965   PMID:17681148   PMID:18063851   PMID:18193043   PMID:18193044   PMID:18279878   PMID:18535744   PMID:18596051   PMID:18804459   PMID:19028676   PMID:19060906   PMID:19075393  
PMID:19148283   PMID:19282754   PMID:19318355   PMID:19474742   PMID:19487539   PMID:19540497   PMID:19542565   PMID:19656773   PMID:19826106   PMID:19890028   PMID:19936222   PMID:20139978  
PMID:20160193   PMID:20360639   PMID:20570916   PMID:20571754   PMID:20595410   PMID:20679960   PMID:20686565   PMID:20714348   PMID:20837471   PMID:20855565   PMID:20864672   PMID:20942659  
PMID:20972250   PMID:21691831   PMID:21873635   PMID:21983347   PMID:22062970   PMID:22095935   PMID:22155345   PMID:22247256   PMID:22286219   PMID:22659251   PMID:22732211   PMID:22896670  
PMID:22916037   PMID:23150577   PMID:23314748   PMID:23661675   PMID:23839332   PMID:23978712   PMID:24097068   PMID:24626437   PMID:24768220   PMID:24816252   PMID:25495645   PMID:25733326  
PMID:25954050   PMID:26639238   PMID:26739706   PMID:26800306   PMID:27040449   PMID:27053679   PMID:27620179   PMID:27733177   PMID:28371666   PMID:28385496   PMID:28413163   PMID:28514442  
PMID:28538136   PMID:28972399   PMID:29183623   PMID:29334984   PMID:29454388   PMID:29695708   PMID:29713054   PMID:29987050   PMID:29989339   PMID:30683883   PMID:30782561   PMID:30827231  
PMID:31054480   PMID:31103046   PMID:31223079   PMID:31270029   PMID:31380419   PMID:31413305   PMID:31923423   PMID:32151767   PMID:32777482   PMID:33075372  


Genomics

Comparative Map Data
ANGPTL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl162,597,520 - 62,606,313 (+)EnsemblGRCh38hg38GRCh38
GRCh38162,597,520 - 62,606,313 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,063,191 - 63,071,984 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37163,063,158 - 63,071,976 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,835,775 - 62,843,768 (+)NCBINCBI36hg18NCBI36
Build 34162,775,207 - 62,783,201NCBI
Celera161,352,392 - 61,360,385 (+)NCBI
Cytogenetic Map1p31.3NCBI
HuRef161,175,226 - 61,184,044 (+)NCBIHuRef
CHM1_1163,178,532 - 63,187,341 (+)NCBICHM1_1
Angptl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39498,919,191 - 98,926,429 (+)NCBIGRCm39mm39
GRCm38499,030,954 - 99,038,192 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl499,030,954 - 99,046,111 (+)EnsemblGRCm38mm10GRCm38
MGSCv37498,697,646 - 98,704,879 (+)NCBIGRCm37mm9NCBIm37
MGSCv36498,523,006 - 98,530,045 (+)NCBImm8
Celera497,401,867 - 97,409,102 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map445.6NCBI
Angptl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25113,703,007 - 113,710,044 (+)NCBI
Rnor_6.0 Ensembl5117,698,764 - 117,705,808 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05117,698,590 - 117,706,729 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05121,639,555 - 121,647,526 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45119,479,669 - 119,484,358 (+)NCBIRGSC3.4rn4RGSC3.4
Celera5112,263,891 - 112,268,719 (+)NCBICelera
Cytogenetic Map5q33NCBI
Angptl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542327,109,962 - 27,121,276 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542327,113,378 - 27,121,339 (-)NCBIChiLan1.0ChiLan1.0
ANGPTL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1163,670,516 - 63,679,194 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl163,670,516 - 63,679,194 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0161,855,870 - 61,863,476 (+)NCBIMhudiblu_PPA_v0panPan3
ANGPTL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl547,525,365 - 47,532,899 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1547,524,390 - 47,532,931 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Angptl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936692286,432 - 295,021 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANGPTL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6149,832,541 - 149,845,831 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16149,836,417 - 149,845,854 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26138,100,831 - 138,111,284 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANGPTL3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12070,452,771 - 70,461,590 (-)NCBI
ChlSab1.1 Ensembl2070,449,227 - 70,460,469 (-)Ensembl
Angptl3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474231,261,719 - 31,269,877 (-)NCBI

Position Markers
D3S2407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37341,395,085 - 41,395,301UniSTSGRCh37
Build 36341,370,089 - 41,370,305RGDNCBI36
Celera341,333,457 - 41,333,670RGD
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef341,439,990 - 41,440,203UniSTS
Marshfield Genetic Map367.94UniSTS
Marshfield Genetic Map367.94RGD
RH46994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,071,837 - 63,071,925UniSTSGRCh37
Build 36162,844,425 - 62,844,513RGDNCBI36
Celera161,361,042 - 61,361,130RGD
Cytogenetic Map1p31UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef161,183,905 - 61,183,993UniSTS
GeneMap99-GB4 RH Map1165.46UniSTS
ANGPTL3_2597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,070,281 - 63,071,138UniSTSGRCh37
Build 36162,842,869 - 62,843,726RGDNCBI36
Celera161,359,486 - 61,360,343RGD
HuRef161,182,349 - 61,183,206UniSTS
D1S3572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37163,063,593 - 63,063,727UniSTSGRCh37
Build 36162,836,181 - 62,836,315RGDNCBI36
Celera161,352,798 - 61,352,932RGD
Cytogenetic Map1p31.3UniSTS
HuRef161,175,661 - 61,175,795UniSTS
TNG Radiation Hybrid Map135292.0UniSTS
Stanford-G3 RH Map13131.0UniSTS
NCBI RH Map1392.7UniSTS
GeneMap99-G3 RH Map13137.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:440
Count of miRNA genes:347
Interacting mature miRNAs:368
Transcripts:ENST00000371129, ENST00000482591, ENST00000493994
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High 2 2 2
Medium 5 8 423 423 8 423 96 1 2 1
Low 276 261 182 26 114 19 147 15 187 142 243 95 7 27 90
Below cutoff 1909 2107 1046 159 1018 7 3580 1472 2849 107 1069 1231 158 1076 2234 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000371129   ⟹   ENSP00000360170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl162,597,520 - 62,606,313 (+)Ensembl
RefSeq Acc Id: ENST00000482591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl162,601,034 - 62,602,380 (+)Ensembl
RefSeq Acc Id: ENST00000493994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl162,602,320 - 62,604,658 (+)Ensembl
RefSeq Acc Id: NM_014495   ⟹   NP_055310
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38162,597,520 - 62,606,313 (+)NCBI
GRCh37163,063,158 - 63,071,976 (+)NCBI
Build 36162,835,775 - 62,843,768 (+)NCBI Archive
HuRef161,175,226 - 61,184,044 (+)NCBI
CHM1_1163,178,532 - 63,187,341 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055310   ⟸   NM_014495
- Peptide Label: preproprotein
- UniProtKB: Q9Y5C1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360170   ⟸   ENST00000371129
Protein Domains
Fibrinogen C-terminal

Promoters
RGD ID:6855736
Promoter ID:EPDNEW_H1033
Type:multiple initiation site
Name:ANGPTL3_1
Description:angiopoietin like 3
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
GRCh38162,597,520 - 62,597,580EPDNEW
RGD ID:6852654
Promoter ID:EP74139
Type:single initiation site
Name:HS_ANGPTL3
Description:Angiopoietin-like 3.
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 36162,835,779 - 62,835,839EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014495.4(ANGPTL3):c.50_51delinsGA (p.Ser17Ter) indel Hypobetalipoproteinemia, familial, 2 [RCV000005684] Chr1:62597616..62597617 [GRCh38]
Chr1:63063287..63063288 [GRCh37]
Chr1:1p31.3
pathogenic
NM_014495.4(ANGPTL3):c.385G>T (p.Glu129Ter) single nucleotide variant Hypobetalipoproteinemia, familial, 2 [RCV000005685] Chr1:62597951 [GRCh38]
Chr1:63063622 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3 copy number gain See cases [RCV000050983] Chr1:61258246..63189366 [GRCh38]
Chr1:61723918..63655037 [GRCh37]
Chr1:61496506..63427625 [NCBI36]
Chr1:1p31.3
uncertain significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
NM_014495.4(ANGPTL3):c.1198+1G>T single nucleotide variant Hypobetalipoproteinemia, familial, 2 [RCV000077766] Chr1:62604236 [GRCh38]
Chr1:63069907 [GRCh37]
Chr1:1p31.3
pathogenic
NM_014495.4(ANGPTL3):c.55del (p.Ile19fs) deletion Hypobetalipoproteinemia, familial, 2 [RCV000077767] Chr1:62597620 [GRCh38]
Chr1:63063291 [GRCh37]
Chr1:1p31.3
pathogenic
NM_014495.4(ANGPTL3):c.431_434AACT[2] (p.Thr146_Asn147insTer) microsatellite Hypobetalipoproteinemia, familial, 2 [RCV000077768] Chr1:62597997..62598000 [GRCh38]
Chr1:63063668..63063671 [GRCh37]
Chr1:1p31.3
pathogenic
NM_014495.4(ANGPTL3):c.358_362CTCAA[1] (p.Asn121fs) microsatellite Hypobetalipoproteinemia, familial, 2 [RCV000077769] Chr1:62597922..62597926 [GRCh38]
Chr1:63063593..63063597 [GRCh37]
Chr1:1p31.3
pathogenic
NM_014495.4(ANGPTL3):c.883T>C (p.Phe295Leu) single nucleotide variant Hypobetalipoproteinemia, familial, 2 [RCV000077770] Chr1:62602332 [GRCh38]
Chr1:63068003 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 copy number loss See cases [RCV000139470] Chr1:53627272..64248854 [GRCh38]
Chr1:54092945..64714537 [GRCh37]
Chr1:53865533..64487125 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p32.3-31.3(chr1:55791287-63405767)x1 copy number loss See cases [RCV000447265] Chr1:55791287..63405767 [GRCh37]
Chr1:1p32.3-31.3
pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3
pathogenic
NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) single nucleotide variant not provided [RCV000444492] Chr1:62597945 [GRCh38]
Chr1:63063616 [GRCh37]
Chr1:1p31.3
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3 copy number gain not provided [RCV000684578] Chr1:62468555..65584629 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1 copy number loss not provided [RCV000684579] Chr1:62830524..65396403 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.3(chr1:62902874-63121705)x3 copy number gain not provided [RCV000749013] Chr1:62902874..63121705 [GRCh37]
Chr1:1p31.3
benign
GRCh37/hg19 1p31.3(chr1:63026822-63090858)x3 copy number gain not provided [RCV000749014] Chr1:63026822..63090858 [GRCh37]
Chr1:1p31.3
benign
NM_014495.4(ANGPTL3):c.565T>C (p.Leu189=) single nucleotide variant not provided [RCV000921618] Chr1:62598765 [GRCh38]
Chr1:63064436 [GRCh37]
Chr1:1p31.3
likely benign
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_014495.4(ANGPTL3):c.776T>C (p.Met259Thr) single nucleotide variant not provided [RCV000955722] Chr1:62601823 [GRCh38]
Chr1:63067494 [GRCh37]
Chr1:1p31.3
benign
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Brain malformations and urinary tract defects [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:491 AgrOrtholog
COSMIC ANGPTL3 COSMIC
Ensembl Genes ENSG00000132855 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000360170 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371129 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000132855 GTEx
HGNC ID HGNC:491 ENTREZGENE
Human Proteome Map ANGPTL3 Human Proteome Map
InterPro Fibrinogen-like_C UniProtKB/Swiss-Prot
  Fibrinogen_a/b/g_C_dom UniProtKB/Swiss-Prot
KEGG Report hsa:27329 UniProtKB/Swiss-Prot
NCBI Gene 27329 ENTREZGENE
OMIM 604774 OMIM
  605019 OMIM
Pfam Fibrinogen_C UniProtKB/Swiss-Prot
PharmGKB PA24796 PharmGKB
PROSITE FIBRINOGEN_C_2 UniProtKB/Swiss-Prot
SMART FBG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56496 UniProtKB/Swiss-Prot
UniProt ANGL3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0JLS0 UniProtKB/Swiss-Prot
  B1ALJ0 UniProtKB/Swiss-Prot
  B2RCW1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ANGPTL3  angiopoietin like 3    angiopoietin-like 3  Symbol and/or name change 5135510 APPROVED
2011-08-16 ANGPTL3  angiopoietin-like 3  ANGPTL3  angiopoietin-like 3  Symbol and/or name change 5135510 APPROVED