HRG (histidine rich glycoprotein) - Rat Genome Database

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Gene: HRG (histidine rich glycoprotein) Homo sapiens
Analyze
Symbol: HRG
Name: histidine rich glycoprotein
RGD ID: 736906
HGNC Page HGNC
Description: Enables several functions, including heme binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Involved in several processes, including defense response to other organism; negative regulation of lamellipodium assembly; and negative regulation of vascular endothelial growth factor signaling pathway. Located in cell surface and extracellular region. Implicated in thrombophilia due to HRG deficiency and thrombosis. Biomarker of pancreatic adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp779H1622; histidine-proline-rich glycoprotein; histidine-rich glycoprotein; HPRG; HRGP; THPH11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100533663  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,666,014 - 186,678,234 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3186,660,216 - 186,678,234 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,383,803 - 186,396,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,866,492 - 187,878,717 (+)NCBINCBI36hg18NCBI36
Build 343187,866,499 - 187,878,724NCBI
Celera3184,820,230 - 184,832,456 (+)NCBI
Cytogenetic Map3q27.3NCBI
HuRef3183,793,470 - 183,805,692 (+)NCBIHuRef
CHM1_13186,347,752 - 186,359,974 (+)NCBICHM1_1
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)NCBI
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
angiogenesis  (IEA)
antimicrobial humoral immune response mediated by antimicrobial peptide  (IDA)
blood coagulation  (IEA)
chemotaxis  (IEA)
cytolysis by host of symbiont cells  (IDA)
defense response to fungus  (IDA)
fibrinolysis  (IEA,ISO)
heme export  (ISO)
heme transport  (IBA,ISO)
hemostasis  (IEA)
negative regulation of angiogenesis  (IDA)
negative regulation of blood vessel endothelial cell migration  (ISS)
negative regulation of cell adhesion  (IDA)
negative regulation of cell adhesion mediated by integrin  (IDA)
negative regulation of cell growth  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of endopeptidase activity  (IBA)
negative regulation of endothelial cell chemotaxis  (IDA)
negative regulation of fibrinolysis  (IBA,ISO)
negative regulation of lamellipodium assembly  (IDA)
negative regulation of vascular endothelial growth factor signaling pathway  (IDA)
platelet activation  (IDA)
positive regulation of apoptotic process  (IDA)
positive regulation of blood vessel remodeling  (IDA)
positive regulation of focal adhesion assembly  (IDA)
positive regulation of immune response to tumor cell  (IDA)
regulation of actin cytoskeleton organization  (IDA)
regulation of blood coagulation  (IDA)
regulation of gene expression  (IDA)
regulation of peptidyl-tyrosine phosphorylation  (IDA)
regulation of platelet activation  (IBA,ISS)
regulation of protein-containing complex assembly  (IDA)
regulation of transcription from RNA polymerase II promoter in response to iron  (ISO)
response to organic cyclic compound  (ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Identification of potential prognostic biomarkers in patients with untreated, advanced pancreatic cancer from a phase 3 trial (Cancer and Leukemia Group B 80303). Roberts AS, etal., Cancer. 2012 Jan 15;118(2):571-8. doi: 10.1002/cncr.26270. Epub 2011 Jun 28.
7. HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. Shigekiyo T, etal., Blood. 1998 Jan 1;91(1):128-33.
Additional References at PubMed
PMID:678554   PMID:1459097   PMID:1561009   PMID:1678514   PMID:2347592   PMID:2524479   PMID:2566603   PMID:3011081   PMID:3819648   PMID:3958188   PMID:4116337   PMID:6414553  
PMID:6438154   PMID:6740558   PMID:8188234   PMID:8348977   PMID:8478589   PMID:8478593   PMID:9184145   PMID:9276466   PMID:10050040   PMID:10421785   PMID:10514432   PMID:11134179  
PMID:12391183   PMID:12477932   PMID:12764609   PMID:14718574   PMID:14744774   PMID:15138272   PMID:15220341   PMID:15269838   PMID:15489334   PMID:16107330   PMID:16335952   PMID:16344560  
PMID:16436387   PMID:16489009   PMID:17229145   PMID:18797515   PMID:19056867   PMID:19285951   PMID:19674792   PMID:19712047   PMID:19903770   PMID:19913121   PMID:20071662   PMID:20237496  
PMID:20303064   PMID:20561914   PMID:20573803   PMID:20628086   PMID:21215706   PMID:21304106   PMID:21420681   PMID:21665544   PMID:21757718   PMID:21873635   PMID:21988832   PMID:22516433  
PMID:22703881   PMID:22895448   PMID:23376485   PMID:23533145   PMID:23576524   PMID:23672470   PMID:24567057   PMID:24825900   PMID:24981860   PMID:25037231   PMID:25064236   PMID:25243896  
PMID:25353308   PMID:25363753   PMID:26051322   PMID:26336134   PMID:26354857   PMID:26687479   PMID:27068509   PMID:27210772   PMID:27930811   PMID:28344315   PMID:28356499   PMID:28675934  
PMID:29108964   PMID:29536307   PMID:29540166   PMID:29987050   PMID:31093964   PMID:31856190   PMID:31880188   PMID:32235678   PMID:32296183   PMID:32929358   PMID:33452125   PMID:33961781  
PMID:33986340   PMID:34494506   PMID:35436053  


Genomics

Comparative Map Data
HRG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,666,014 - 186,678,234 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3186,660,216 - 186,678,234 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,383,803 - 186,396,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,866,492 - 187,878,717 (+)NCBINCBI36hg18NCBI36
Build 343187,866,499 - 187,878,724NCBI
Celera3184,820,230 - 184,832,456 (+)NCBI
Cytogenetic Map3q27.3NCBI
HuRef3183,793,470 - 183,805,692 (+)NCBIHuRef
CHM1_13186,347,752 - 186,359,974 (+)NCBICHM1_1
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)NCBI
Hrg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391622,769,822 - 22,780,409 (+)NCBIGRCm39mm39
GRCm39 Ensembl1622,769,822 - 22,780,406 (+)Ensembl
GRCm381622,951,072 - 22,961,659 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1622,951,072 - 22,961,656 (+)EnsemblGRCm38mm10GRCm38
MGSCv371622,951,145 - 22,961,732 (+)NCBIGRCm37mm9NCBIm37
MGSCv361622,866,448 - 22,876,980 (+)NCBImm8
Celera1623,511,005 - 23,521,593 (+)NCBICelera
Cytogenetic Map16B1NCBI
cM Map1613.79NCBI
Hrg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21178,054,488 - 78,069,402 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1178,054,498 - 78,069,389 (-)Ensembl
Rnor_6.01181,621,274 - 81,639,938 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1181,621,283 - 81,639,952 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01184,718,226 - 84,736,651 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,248,578 - 80,264,179 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11180,306,169 - 80,321,768 (-)NCBI
Celera1176,927,058 - 76,941,902 (-)NCBICelera
Cytogenetic Map11q23NCBI
Hrg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542021,019,212 - 21,032,976 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542021,020,938 - 21,033,022 (-)NCBIChiLan1.0ChiLan1.0
HRG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13192,168,299 - 192,180,539 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3192,168,299 - 192,180,539 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03183,701,069 - 183,712,365 (+)NCBIMhudiblu_PPA_v0panPan3
HRG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13419,276,487 - 19,286,540 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3419,276,549 - 19,286,537 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3423,361,891 - 23,371,917 (+)NCBI
ROS_Cfam_1.03419,187,471 - 19,197,522 (+)NCBI
ROS_Cfam_1.0 Ensembl3419,187,509 - 19,197,783 (+)Ensembl
UMICH_Zoey_3.13419,219,778 - 19,229,696 (+)NCBI
UNSW_CanFamBas_1.03419,219,621 - 19,229,772 (+)NCBI
UU_Cfam_GSD_1.03419,448,102 - 19,458,128 (+)NCBI
Hrg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602117,193,744 - 117,204,015 (-)NCBI
SpeTri2.0NW_0049365783,285,986 - 3,295,876 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HRG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13124,505,303 - 124,516,384 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113124,505,305 - 124,516,387 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213133,895,233 - 133,906,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HRG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1152,753,819 - 2,766,946 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl152,753,810 - 2,766,478 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606311,490,597 - 11,503,244 (-)NCBIVero_WHO_p1.0
Hrg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473070,070,302 - 70,086,256 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:181212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,395,676 - 186,395,984UniSTSGRCh37
Build 363187,878,370 - 187,878,678RGDNCBI36
Celera3184,832,109 - 184,832,417RGD
Cytogenetic Map3q27UniSTS
HuRef3183,805,345 - 183,805,653UniSTS
GDB:206583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,392,991 - 186,393,232UniSTSGRCh37
Build 363187,875,685 - 187,875,926RGDNCBI36
Celera3184,829,422 - 184,829,665RGD
Cytogenetic Map3q27UniSTS
HuRef3183,802,663 - 183,802,902UniSTS
SHGC-77619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,395,798 - 186,395,993UniSTSGRCh37
Build 363187,878,492 - 187,878,687RGDNCBI36
Celera3184,832,231 - 184,832,426RGD
Cytogenetic Map3q27UniSTS
HuRef3183,805,467 - 183,805,662UniSTS
TNG Radiation Hybrid Map346981.0UniSTS
GeneMap99-GB4 RH Map3697.1UniSTS
D3S4002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,395,677 - 186,396,004UniSTSGRCh37
Build 363187,878,371 - 187,878,698RGDNCBI36
Celera3184,832,110 - 184,832,437RGD
Cytogenetic Map3q27UniSTS
HuRef3183,805,346 - 183,805,673UniSTS
Whitehead-YAC Contig Map3 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:476
Count of miRNA genes:390
Interacting mature miRNAs:417
Transcripts:ENST00000232003, ENST00000468154, ENST00000495413
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
High 138 138 138
Medium 50 280 280 49 280 53 4
Low 42 196 65 25 178 24 118 17 25 118 136 103 1 26 92
Below cutoff 1110 1198 780 112 785 16 2317 898 1938 123 889 919 106 510 1348 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI800281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA637240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB128993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H97733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z17218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000232003   ⟹   ENSP00000232003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,666,014 - 186,678,234 (+)Ensembl
RefSeq Acc Id: ENST00000468154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,660,216 - 186,666,181 (+)Ensembl
RefSeq Acc Id: ENST00000495413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3186,668,978 - 186,678,231 (+)Ensembl
RefSeq Acc Id: NM_000412   ⟹   NP_000403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,666,014 - 186,678,234 (+)NCBI
GRCh373186,383,747 - 186,396,023 (+)NCBI
Build 363187,866,492 - 187,878,717 (+)NCBI Archive
HuRef3183,793,419 - 183,805,692 (+)NCBI
CHM1_13186,347,695 - 186,359,980 (+)NCBI
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247415   ⟹   XP_005247472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,666,014 - 186,678,234 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000403   ⟸   NM_000412
- Peptide Label: precursor
- UniProtKB: P04196 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247472   ⟸   XM_005247415
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000232003   ⟸   ENST00000232003
Protein Domains
Cystatin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04196-F1-model_v2 AlphaFold P04196 1-525 view protein structure

Promoters
RGD ID:6866540
Promoter ID:EPDNEW_H6435
Type:initiation region
Name:HRG_1
Description:histidine rich glycoprotein
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
GRCh383186,665,990 - 186,666,050EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000412.5(HRG):c.99del (p.Ala34fs) deletion not provided [RCV000518881] Chr3:186666128 [GRCh38]
Chr3:186383917 [GRCh37]
Chr3:3q27.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000412.5(HRG):c.308G>A (p.Gly103Glu) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV000016049] Chr3:186669945 [GRCh38]
Chr3:186387734 [GRCh37]
Chr3:3q27.3
pathogenic
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_000412.5(HRG):c.1234C>T (p.Gln412Ter) single nucleotide variant not provided [RCV000895002] Chr3:186677539 [GRCh38]
Chr3:186395328 [GRCh37]
Chr3:187878022 [NCBI36]
Chr3:3q27.3
benign|not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3 copy number gain See cases [RCV000139009] Chr3:184843627..187461008 [GRCh38]
Chr3:184561415..187178796 [GRCh37]
Chr3:186044109..188661490 [NCBI36]
Chr3:3q27.2-27.3
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
Single allele deletion Normal pregnancy [RCV000161328] Chr3:186668987..186693287 [GRCh38]
Chr3:186386776..186411076 [GRCh37]
Chr3:3q27.3
not provided
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28
pathogenic
C223R single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV000415557] Chr3:3q27.3 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q27.3(chr3:186386711-186395747)x1 copy number loss See cases [RCV000446938] Chr3:186386711..186395747 [GRCh37]
Chr3:3q27.3
likely benign
GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1 copy number loss See cases [RCV000448264] Chr3:185419048..186575415 [GRCh37]
Chr3:3q27.2-27.3
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_000412.5(HRG):c.271C>T (p.Pro91Ser) single nucleotide variant Familial early-onset deep venous thrombosis [RCV000509067]|Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV000627095] Chr3:186669022 [GRCh38]
Chr3:186386811 [GRCh37]
Chr3:3q27.3
pathogenic|likely pathogenic
NC_000003.11:g.(?_186256465)_(186980528_?)del deletion 3MC syndrome 1 [RCV000638455] Chr3:186256465..186980528 [GRCh37]
Chr3:3q27.3
pathogenic|likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q27.1-28(chr3:184300169-188285627) copy number loss Short stature [RCV000626533] Chr3:184300169..188285627 [GRCh37]
Chr3:3q27.1-28
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1 copy number loss not provided [RCV000743033] Chr3:186018854..189514047 [GRCh37]
Chr3:3q27.3-28
pathogenic
GRCh37/hg19 3q27.3(chr3:186328121-186494422)x3 copy number gain not provided [RCV000743036] Chr3:186328121..186494422 [GRCh37]
Chr3:3q27.3
benign
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3q27.3(chr3:186386586-186420170)x1 copy number loss not provided [RCV000743038] Chr3:186386586..186420170 [GRCh37]
Chr3:3q27.3
benign
GRCh37/hg19 3q27.3(chr3:186386776-186420170)x1 copy number loss not provided [RCV000743039] Chr3:186386776..186420170 [GRCh37]
Chr3:3q27.3
benign
GRCh37/hg19 3q27.3(chr3:186387299-186420170)x1 copy number loss not provided [RCV000743040] Chr3:186387299..186420170 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.117T>C (p.Asn39=) single nucleotide variant not provided [RCV000998175] Chr3:186666148 [GRCh38]
Chr3:186383937 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.286C>T (p.Arg96Cys) single nucleotide variant not provided [RCV000998177] Chr3:186669037 [GRCh38]
Chr3:186386826 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.548T>C (p.Val183Ala) single nucleotide variant not provided [RCV000998180] Chr3:186671779 [GRCh38]
Chr3:186389568 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.701C>T (p.Pro234Leu) single nucleotide variant not provided [RCV000948667] Chr3:186675150 [GRCh38]
Chr3:186392939 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.962C>T (p.Pro321Leu) single nucleotide variant not provided [RCV000948670] Chr3:186677267 [GRCh38]
Chr3:186395056 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.1051C>A (p.Pro351Thr) single nucleotide variant not provided [RCV000884489] Chr3:186677356 [GRCh38]
Chr3:186395145 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.849T>C (p.Ser283=) single nucleotide variant not provided [RCV000948668] Chr3:186677154 [GRCh38]
Chr3:186394943 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.854ATC[3] (p.His288del) microsatellite not provided [RCV000948669] Chr3:186677159..186677161 [GRCh38]
Chr3:186394948..186394950 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.306C>T (p.Ile102=) single nucleotide variant not provided [RCV000968022] Chr3:186669943 [GRCh38]
Chr3:186387732 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.598G>T (p.Val200Leu) single nucleotide variant not provided [RCV000884487] Chr3:186672826 [GRCh38]
Chr3:186390615 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.952C>T (p.Pro318Ser) single nucleotide variant not provided [RCV000884488] Chr3:186677257 [GRCh38]
Chr3:186395046 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.393C>A (p.Val131=) single nucleotide variant not provided [RCV000894320] Chr3:186671624 [GRCh38]
Chr3:186389413 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.434T>A (p.Ile145Lys) single nucleotide variant not provided [RCV000998178] Chr3:186671665 [GRCh38]
Chr3:186389454 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.1126A>G (p.Thr376Ala) single nucleotide variant not provided [RCV000998184] Chr3:186677431 [GRCh38]
Chr3:186395220 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.1306G>A (p.Gly436Arg) single nucleotide variant not provided [RCV000998186] Chr3:186677611 [GRCh38]
Chr3:186395400 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.723_724del (p.Cys241_Glu242delinsTer) microsatellite not provided [RCV000998182] Chr3:186675170..186675171 [GRCh38]
Chr3:186392959..186392960 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.1155_1214del (p.383_387GHHPH[1]) deletion not provided [RCV000998185] Chr3:186677443..186677502 [GRCh38]
Chr3:186395232..186395291 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.1408C>T (p.Leu470=) single nucleotide variant not provided [RCV000998188] Chr3:186677713 [GRCh38]
Chr3:186395502 [GRCh37]
Chr3:3q27.3
uncertain significance
GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1 copy number loss not provided [RCV001005497] Chr3:185879162..187446035 [GRCh37]
Chr3:3q27.2-27.3
pathogenic
NM_000412.5(HRG):c.702G>A (p.Pro234=) single nucleotide variant not provided [RCV000998181] Chr3:186675151 [GRCh38]
Chr3:186392940 [GRCh37]
Chr3:3q27.3
likely benign
NM_000412.5(HRG):c.767C>T (p.Pro256Leu) single nucleotide variant not provided [RCV000998183] Chr3:186677072 [GRCh38]
Chr3:186394861 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.868del (p.His290fs) deletion not provided [RCV001593736] Chr3:186677170 [GRCh38]
Chr3:186394959 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV001702216] Chr3:186677783 [GRCh38]
Chr3:186395572 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV001702353] Chr3:186677647 [GRCh38]
Chr3:186395436 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.880G>T (p.Glu294Ter) single nucleotide variant not provided [RCV000887390] Chr3:186677185 [GRCh38]
Chr3:186394974 [GRCh37]
Chr3:3q27.3
pathogenic|likely benign
NM_000412.5(HRG):c.881A>C (p.Glu294Ala) single nucleotide variant not provided [RCV000887391] Chr3:186677186 [GRCh38]
Chr3:186394975 [GRCh37]
Chr3:3q27.3
likely benign
NM_000412.5(HRG):c.204C>T (p.Tyr68=) single nucleotide variant not provided [RCV000961133] Chr3:186668955 [GRCh38]
Chr3:186386744 [GRCh37]
Chr3:3q27.3
likely benign
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002222059]|not provided [RCV000998176] Chr3:186666156 [GRCh38]
Chr3:186383945 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.439T>A (p.Phe147Ile) single nucleotide variant not provided [RCV000998179] Chr3:186671670 [GRCh38]
Chr3:186389459 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.1379G>A (p.Arg460Gln) single nucleotide variant Abnormal bleeding [RCV001270493]|not provided [RCV000998187] Chr3:186677684 [GRCh38]
Chr3:186395473 [GRCh37]
Chr3:3q27.3
likely benign|uncertain significance
NM_000412.5(HRG):c.184-11G>T single nucleotide variant not provided [RCV001621716] Chr3:186668924 [GRCh38]
Chr3:186386713 [GRCh37]
Chr3:3q27.3
benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_000412.5(HRG):c.541G>C (p.Glu181Gln) single nucleotide variant not provided [RCV001093265] Chr3:186671772 [GRCh38]
Chr3:186389561 [GRCh37]
Chr3:3q27.3
uncertain significance
NC_000003.11:g.(?_186256465)_(187009440_?)del deletion 3MC syndrome 1 [RCV001033360] Chr3:186256465..187009440 [GRCh37]
Chr3:3q27.3
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
NM_000412.5(HRG):c.124C>T (p.Arg42Ter) single nucleotide variant Thrombophilia, histidine-rich glycoprotein-related [RCV001336847] Chr3:186666155 [GRCh38]
Chr3:186383944 [GRCh37]
Chr3:3q27.3
pathogenic
NM_000412.5(HRG):c.610C>T (p.Pro204Ser) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV001703327] Chr3:186672838 [GRCh38]
Chr3:186390627 [GRCh37]
Chr3:3q27.3
benign
NM_000412.5(HRG):c.745C>T (p.His249Tyr) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002245334] Chr3:186677050 [GRCh38]
Chr3:186394839 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.736C>A (p.Pro246Thr) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002245331] Chr3:186675185 [GRCh38]
Chr3:186392974 [GRCh37]
Chr3:3q27.3
uncertain significance
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3
pathogenic
NM_000412.5(HRG):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV001756734] Chr3:186675182 [GRCh38]
Chr3:186392971 [GRCh37]
Chr3:3q27.3
uncertain significance
GRCh37/hg19 3q27.3(chr3:186149060-186599706) copy number loss not specified [RCV002053397] Chr3:186149060..186599706 [GRCh37]
Chr3:3q27.3
uncertain significance
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042) copy number loss not specified [RCV002053395] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3
pathogenic
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002222134] Chr3:186666103 [GRCh38]
Chr3:186383892 [GRCh37]
Chr3:3q27.3
uncertain significance
NM_000412.5(HRG):c.946C>T (p.Pro316Ser) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002245332] Chr3:186677251 [GRCh38]
Chr3:186395040 [GRCh37]
Chr3:3q27.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5181 AgrOrtholog
COSMIC HRG COSMIC
Ensembl Genes ENSG00000113905 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000232003 ENTREZGENE
  ENSP00000232003.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000232003 ENTREZGENE
  ENST00000232003.5 UniProtKB/Swiss-Prot
GTEx ENSG00000113905 GTEx
HGNC ID HGNC:5181 ENTREZGENE
Human Proteome Map HRG Human Proteome Map
InterPro Cystatin_dom UniProtKB/Swiss-Prot
  Cystatin_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3273 UniProtKB/Swiss-Prot
NCBI Gene 3273 ENTREZGENE
OMIM 142640 OMIM
  613116 OMIM
Pfam Cystatin UniProtKB/Swiss-Prot
PharmGKB PA29455 PharmGKB
SMART SM00043 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54403 UniProtKB/Swiss-Prot
UniProt HRG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9EK35 UniProtKB/Swiss-Prot
  D3DNU7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 HRG  histidine rich glycoprotein    histidine-rich glycoprotein  Symbol and/or name change 5135510 APPROVED
2011-08-16 HRG  histidine-rich glycoprotein  HRG  histidine-rich glycoprotein  Symbol and/or name change 5135510 APPROVED