HRG (histidine rich glycoprotein)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	186,666,014 - 186,678,234 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	3	186,660,216 - 186,678,234 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	186,383,803 - 186,396,023 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	187,866,492 - 187,878,717 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	3	187,866,499 - 187,878,724	NCBI
Celera	3	184,820,230 - 184,832,456 (+)	NCBI
Cytogenetic Map	3	q27.3	NCBI
HuRef	3	183,793,470 - 183,805,692 (+)	NCBI		HuRef
CHM1_1	3	186,347,752 - 186,359,974 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	189,487,766 - 189,499,996 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

3MC syndrome 1 (IAGP)

Breast Neoplasms (EXP)

hemorrhagic disease (IAGP)

pancreatic adenocarcinoma (IEP)

thrombophilia due to HRG deficiency (IAGP)

thrombosis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

17alpha-ethynylestradiol (EXP)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,6-dinitrotoluene (ISO)

3-chloropropane-1,2-diol (ISO)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

buta-1,3-diene (ISO)

cadmium atom (EXP)

cefaloridine (ISO)

CGP 52608 (EXP)

clofibrate (ISO)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

doxorubicin (ISO)

endosulfan (EXP)

furan (ISO)

gentamycin (ISO)

glycidol (ISO)

graphite (ISO)

GW 4064 (ISO)

heparin (EXP)

irinotecan (EXP)

lead(0) (EXP)

lead(2+) (EXP)

lipopolysaccharide (EXP)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

nitrofen (ISO)

O-methyleugenol (EXP)

olanzapine (EXP)

ouabain (EXP)

paracetamol (EXP,ISO)

perfluorononanoic acid (EXP)

pirinixic acid (EXP,ISO)

potassium dichromate (ISO)

pravastatin (ISO)

resveratrol (EXP)

sodium arsenite (EXP)

tamoxifen (EXP)

tauroursodeoxycholic acid (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

Triptolide (ISO)

troglitazone (EXP)

ursodeoxycholic acid (ISO)

valproic acid (EXP)

zaragozic acid A (ISO)

zinc atom (EXP)

zinc(0) (EXP)

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

blood microparticle (HDA)

cell surface (IDA)

collagen-containing extracellular matrix (HDA)

endolysosome (IBA,ISO)

extracellular exosome (HDA)

extracellular region (HDA,IBA,IDA,IEA,NAS,TAS)

phagolysosome membrane (ISO)

plasma membrane (TAS)

platelet alpha granule lumen (TAS)

vesicle (ISO)

Molecular Function

cysteine-type endopeptidase inhibitor activity (IEA)

endopeptidase inhibitor activity (IBA)

heme binding (IDA)

heparan sulfate proteoglycan binding (IDA)

heparin binding (IBA,IDA,IEA)

immunoglobulin binding (IDA)

metal ion binding (IDA,IEA)

protein binding (IPI)

serine-type endopeptidase inhibitor activity (IBA)

signaling receptor binding (IDA)

zinc ion binding (IBA,IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal bleeding (IAGP)

Autosomal dominant inheritance (IAGP)

Hypercoagulability (IAGP)

Recurrent thromboembolism (IAGP)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	186,666,014 - 186,678,234 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	3	186,660,216 - 186,678,234 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	186,383,803 - 186,396,023 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	187,866,492 - 187,878,717 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	3	187,866,499 - 187,878,724	NCBI
Celera	3	184,820,230 - 184,832,456 (+)	NCBI
Cytogenetic Map	3	q27.3	NCBI
HuRef	3	183,793,470 - 183,805,692 (+)	NCBI		HuRef
CHM1_1	3	186,347,752 - 186,359,974 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	189,487,766 - 189,499,996 (+)	NCBI

Hrg
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	22,769,822 - 22,780,409 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	16	22,769,822 - 22,780,406 (+)	Ensembl
GRCm38	16	22,951,072 - 22,961,659 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	22,951,072 - 22,961,656 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	22,951,145 - 22,961,732 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	16	22,866,448 - 22,876,980 (+)	NCBI			mm8
Celera	16	23,511,005 - 23,521,593 (+)	NCBI		Celera
Cytogenetic Map	16	B1	NCBI
cM Map	16	13.79	NCBI

Hrg
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	11	78,054,488 - 78,069,402 (-)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	11	78,054,498 - 78,069,389 (-)	Ensembl
Rnor_6.0	11	81,621,274 - 81,639,938 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	81,621,283 - 81,639,952 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	84,718,226 - 84,736,651 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	80,248,578 - 80,264,179 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	11	80,306,169 - 80,321,768 (-)	NCBI
Celera	11	76,927,058 - 76,941,902 (-)	NCBI		Celera
Cytogenetic Map	11	q23	NCBI

Hrg
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955420	21,019,212 - 21,032,976 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955420	21,020,938 - 21,033,022 (-)	NCBI	ChiLan1.0	ChiLan1.0

HRG
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	3	192,168,299 - 192,180,539 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	192,168,299 - 192,180,539 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	3	183,701,069 - 183,712,365 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

HRG
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	34	19,276,487 - 19,286,540 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	19,276,549 - 19,286,537 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	23,361,891 - 23,371,917 (+)	NCBI
ROS_Cfam_1.0	34	19,187,471 - 19,197,522 (+)	NCBI
ROS_Cfam_1.0 Ensembl	34	19,187,509 - 19,197,783 (+)	Ensembl
UMICH_Zoey_3.1	34	19,219,778 - 19,229,696 (+)	NCBI
UNSW_CanFamBas_1.0	34	19,219,621 - 19,229,772 (+)	NCBI
UU_Cfam_GSD_1.0	34	19,448,102 - 19,458,128 (+)	NCBI

Hrg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	117,193,744 - 117,204,015 (-)	NCBI
SpeTri2.0	NW_004936578	3,285,986 - 3,295,876 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HRG
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	124,505,303 - 124,516,384 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	124,505,305 - 124,516,387 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	133,895,233 - 133,906,338 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HRG
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	15	2,753,819 - 2,766,946 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	15	2,753,810 - 2,766,478 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666063	11,490,597 - 11,503,244 (-)	NCBI	Vero_WHO_p1.0

Hrg
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624730	70,070,302 - 70,086,256 (-)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

GDB:181212

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	186,395,676 - 186,395,984	UniSTS	GRCh37
Build 36	3	187,878,370 - 187,878,678	RGD	NCBI36
Celera	3	184,832,109 - 184,832,417	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	183,805,345 - 183,805,653	UniSTS

GDB:206583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	186,392,991 - 186,393,232	UniSTS	GRCh37
Build 36	3	187,875,685 - 187,875,926	RGD	NCBI36
Celera	3	184,829,422 - 184,829,665	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	183,802,663 - 183,802,902	UniSTS

SHGC-77619

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	186,395,798 - 186,395,993	UniSTS	GRCh37
Build 36	3	187,878,492 - 187,878,687	RGD	NCBI36
Celera	3	184,832,231 - 184,832,426	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	183,805,467 - 183,805,662	UniSTS
TNG Radiation Hybrid Map	3	46981.0	UniSTS
GeneMap99-GB4 RH Map	3	697.1	UniSTS

D3S4002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	186,395,677 - 186,396,004	UniSTS	GRCh37
Build 36	3	187,878,371 - 187,878,698	RGD	NCBI36
Celera	3	184,832,110 - 184,832,437	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	183,805,346 - 183,805,673	UniSTS
Whitehead-YAC Contig Map	3		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

Medium

280

Low

196

178

118

136

103

Below cutoff

1110

1198

780

112

785

2317

898

1938

123

889

919

106

510

1348

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	186,666,014 - 186,678,234 (+)	Ensembl

RefSeq Acc Id:

ENST00000468154

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	186,660,216 - 186,666,181 (+)	Ensembl

RefSeq Acc Id:

ENST00000495413

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	186,668,978 - 186,678,231 (+)	Ensembl

RefSeq Acc Id:

NM_000412 ⟹ NP_000403

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	186,666,014 - 186,678,234 (+)	NCBI
GRCh37	3	186,383,747 - 186,396,023 (+)	NCBI
Build 36	3	187,866,492 - 187,878,717 (+)	NCBI Archive
HuRef	3	183,793,419 - 183,805,692 (+)	NCBI
CHM1_1	3	186,347,695 - 186,359,980 (+)	NCBI
T2T-CHM13v2.0	3	189,487,766 - 189,499,996 (+)	NCBI

Sequence:

show sequence

AAGGGATGGTTTAACAAAATGAAGGCACTCATTGCAGCACTGCTTTTGATCACATTGCAGTATT
CGTGTGCCGTGAGTCCCACTGACTGCAGTGCTGTTGAGCCGGAGGCTGAGAAAGCTCTAGACCT
GATCAATAAAAGGCGACGGGATGGCTACCTTTTCCAATTGCTGCGGATTGCTGATGCCCACTTG
GACAGAGTGGAAAATACAACTGTATATTACTTAGTCTTAGATGTGCAAGAATCGGACTGTTCGG
TCCTATCCAGGAAATACTGGAATGACTGTGAGCCACCTGATTCCAGACGTCCATCTGAAATAGT
GATCGGACAATGTAAGGTAATAGCTACAAGACATTCCCATGAATCTCAGGACCTCAGAGTGATT
GACTTTAACTGCACCACAAGTTCTGTCTCTTCAGCACTGGCCAATACCAAAGATAGTCCGGTCC
TCATAGATTTCTTTGAGGATACTGAGCGCTACAGAAAACAAGCCAACAAAGCCCTTGAGAAGTA
CAAAGAGGAGAATGATGACTTTGCCTCTTTCAGAGTGGACCGAATCGAGAGAGTTGCAAGAGTG
AGAGGAGGGGAAGGAACTGGTTACTTCGTGGACTTCTCTGTGCGGAACTGCCCCAGACACCATT
TCCCCAGACACCCCAATGTCTTTGGATTCTGCAGAGCAGATTTGTTCTATGATGTAGAAGCCTT
GGACTTGGAAAGCCCGAAAAACCTTGTCATAAACTGTGAAGTCTTCGACCCTCAGGAACATGAG
AACATCAATGGTGTACCGCCTCATTTGGGACATCCCTTCCACTGGGGTGGGCATGAGCGTTCTT
CTACCACCAAGCCTCCATTCAAGCCCCATGGATCTAGAGATCATCATCATCCCCACAAGCCACA
CGAACATGGACCCCCACCTCCTCCAGATGAAAGAGATCACTCACATGGACCCCCACTTCCACAA
GGCCCTCCTCCACTATTGCCCATGTCCTGCTCAAGTTGTCAACATGCCACTTTTGGCACAAATG
GGGCCCAAAGACATTCTCATAATAATAATTCCAGTGACCTCCATCCCCATAAGCATCATTCCCA
TGAACAGCATCCCCACGGACACCATCCCCATGCACACCATCCTCATGAACATGATACCCATAGA
CAGCATCCCCATGGACACCACCCCCATGGACACCATCCTCATGGACACCACCCCCATGGACACC
ATCCCCATGGACACCATCCCCACTGCCATGATTTCCAAGACTATGGACCTTGTGACCCACCACC
CCATAACCAAGGTCACTGTTGCCATGGCCACGGCCCACCACCTGGGCACTTAAGAAGGCGAGGC
CCAGGTAAAGGACCCCGTCCCTTCCATTGCAGACAAATTGGATCTGTGTACCGACTCCCTCCTC
TAAGAAAAGGTGAGGTGCTGCCACTTCCTGAGGCCAATTTTCCCAGCTTCCCATTGCCGCACCA
CAAACATCCTCTAAAGCCAGACAATCAGCCCTTTCCTCAATCAGTCTCTGAATCATGTCCAGGG
AAGTTCAAGAGTGGGTTTCCACAAGTTTCCATGTTTTTTACACATACATTTCCAAAATAAAATG
TGATTCCTTTGAAGAGGAAAATGAATAATACATTGAATTAGAAACATAAATAAAATGACCAGTA
ATTGTGAAAATTACAGTTCTTTTCAACCTACTTTCATACTGAAGATGCAGCAAAATGTGAATGG
GAAAAGAGATGGCCTGAGAAGAGAGATCAAATGGAAAGGAGAGGAAAGAACTCAGTGCTGCCTA
TTAGTAGTTAATTCTGTCACTCACCACTACATCACTTGAGACAAATCTATGCCACTCAGAATCT
CCTTCTTTCCTGGACTTAACTCTAATTCTAGAGTCTCTGTTACTGCTTGGGCTATACCTGGGCA
TACTAATAAAGTATGGTATTGAAACTA

hide sequence

RefSeq Acc Id:

XM_005247415 ⟹ XP_005247472

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	186,666,014 - 186,678,234 (+)	NCBI

Sequence:

show sequence

AAAGTCTGTATAAAATTCTCTGCAGTGGCAGATCATAGCAAGGGATGGTTTAACAAAATGAAGG
CACTCATTGCAGCACTGCTTTTGATCACATTGCAGTATTCGTGTGCCGTGAGTCCCACTGACTG
CAGTGCTGTTGAGCCGGAGGCTGAGAAAGCTCTAGACCTGATCAATAAAAGGCGACGGGATGGC
TACCTTTTCCAATTGCTGCGGATTGCTGATGCCCACTTGGACAGAGTGGAAAATACAACTGTAT
ATTACTTAGTCTTAGATGTGCAAGAATCGGACTGTTCGGTCCTATCCAGGAAATACTGGAATGA
CTGTGAGCCACCTGATTCCAGACGTCCATCTGAAATAGTGATCGGACAATGTAAGGTAATAGCT
ACAAGACATTCCCATGAATCTCAGGACCTCAGAGTGATTGACTTTAACTGCACCACAAGTTCTG
TCTCTTCAGCACTGGCCAATACCAAAGATAGTCCGGTCCTCATAGATTTCTTTGAGGATACTGA
GCGCTACAGAAAACAAGCCAACAAAGCCCTTGAGAAGTACAAAGAGGAGAATGATGACTTTGCC
TCTTTCAGAGTGGACCGAATCGAGAGAGTTGCAAGAGTGAGAGGAGGGGAAGGAACTGGTTACT
TCGTGGACTTCTCTGTGCGGAACTGCCCCAGACACCATTTCCCCAGACACCCCAATGTCTTTGG
ATTCTGCAGAGCAGATTTGTTCTATGATGTAGAAGCCTTGGACTTGGAAAGCCCGAAAAACCTT
GTCATAAACTGTGAAGTCTTCGACCCTCAGGCACTTTTCTGTGACCTTTTCCAGGAACATGAGA
ACATCAATGGTGTACCGCCTCATTTGGGACATCCCTTCCACTGGGGTGGGCATGAGCGTTCTTC
TACCACCAAGCCTCCATTCAAGCCCCATGGATCTAGAGATCATCATCATCCCCACAAGCCACAC
GAACATGGACCCCCACCTCCTCCAGATGAAAGAGATCACTCACATGGACCCCCACTTCCACAAG
GCCCTCCTCCACTATTGCCCATGTCCTGCTCAAGTTGTCAACATGCCACTTTTGGCACAAATGG
GGCCCAAAGACATTCTCATAATAATAATTCCAGTGACCTCCATCCCCATAAGCATCATTCCCAT
GAACAGCATCCCCACGGACACCATCCCCATGCACACCATCCTCATGAACATGATACCCATAGAC
AGCATCCCCATGGACACCACCCCCATGGACACCATCCTCATGGACACCACCCCCATGGACACCA
TCCCCATGGACACCATCCCCACTGCCATGATTTCCAAGACTATGGACCTTGTGACCCACCACCC
CATAACCAAGGTCACTGTTGCCATGGCCACGGCCCACCACCTGGGCACTTAAGAAGGCGAGGCC
CAGGTAAAGGACCCCGTCCCTTCCATTGCAGACAAATTGGATCTGTGTACCGACTCCCTCCTCT
AAGAAAAGGTGAGGTGCTGCCACTTCCTGAGGCCAATTTTCCCAGCTTCCCATTGCCGCACCAC
AAACATCCTCTAAAGCCAGACAATCAGCCCTTTCCTCAATCAGTCTCTGAATCATGTCCAGGGA
AGTTCAAGAGTGGGTTTCCACAAGTTTCCATGTTTTTTACACATACATTTCCAAAATAAAATGT
GATTCCTTTGAAGAGGAAAATGAATAATACATTGAATTAGAAACATAAATAAAATGACCAGTAA
TTGTGAAAATTACAGTTCTTTTCAACCTACTTTCATACTGAAGATGCAGCAAAATGTGAATGGG
AAAAGAGATGGCCTGAGAAGAGAGATCAAATGGAAAGGAGAGGAAAGAACTCAGTGCTGCCTAT
TAGTAGTTAATTCTGTCACTCACCACTACATCACTTGAGACAAATCTATGCCACTCAGAATCTC
CTTCTTTCCTGGACTTAACTCTAATTCTAGAGTCTCTGTTACTGCTTGGGCTATACCTGGGCAT
ACTAATAAAGTATGGTATTGAAACTAT

hide sequence

Protein Sequences


Protein RefSeqs	NP_000403	(Get FASTA)	NCBI Sequence Viewer
	XP_005247472	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA52694	(Get FASTA)	NCBI Sequence Viewer
	AAH69574	(Get FASTA)	NCBI Sequence Viewer
	AAI50592	(Get FASTA)	NCBI Sequence Viewer
	BAA21613	(Get FASTA)	NCBI Sequence Viewer
	BAG36179	(Get FASTA)	NCBI Sequence Viewer
	CAA78925	(Get FASTA)	NCBI Sequence Viewer
	CAH18157	(Get FASTA)	NCBI Sequence Viewer
	EAW78183	(Get FASTA)	NCBI Sequence Viewer
	EAW78184	(Get FASTA)	NCBI Sequence Viewer
	P04196	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_000403 ⟸ NM_000412
- Peptide Label:	precursor
- UniProtKB:	P04196 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKALIAALLLITLQYSCAVSPTDCSAVEPEAEKALDLINKRRRDGYLFQLLRIADAHLDRVENT TVYYLVLDVQESDCSVLSRKYWNDCEPPDSRRPSEIVIGQCKVIATRHSHESQDLRVIDFNCTT SSVSSALANTKDSPVLIDFFEDTERYRKQANKALEKYKEENDDFASFRVDRIERVARVRGGEGT GYFVDFSVRNCPRHHFPRHPNVFGFCRADLFYDVEALDLESPKNLVINCEVFDPQEHENINGVP PHLGHPFHWGGHERSSTTKPPFKPHGSRDHHHPHKPHEHGPPPPPDERDHSHGPPLPQGPPPLL PMSCSSCQHATFGTNGAQRHSHNNNSSDLHPHKHHSHEQHPHGHHPHAHHPHEHDTHRQHPHGH HPHGHHPHGHHPHGHHPHGHHPHCHDFQDYGPCDPPPHNQGHCCHGHGPPPGHLRRRGPGKGPR PFHCRQIGSVYRLPPLRKGEVLPLPEANFPSFPLPHHKHPLKPDNQPFPQSVSESCPGKFKSGF PQVSMFFTHTFPK hide sequence

RefSeq Acc Id:

XP_005247472 ⟸ XM_005247415

- Peptide Label:

isoform X1

- Sequence:

show sequence

MKALIAALLLITLQYSCAVSPTDCSAVEPEAEKALDLINKRRRDGYLFQLLRIADAHLDRVENT
TVYYLVLDVQESDCSVLSRKYWNDCEPPDSRRPSEIVIGQCKVIATRHSHESQDLRVIDFNCTT
SSVSSALANTKDSPVLIDFFEDTERYRKQANKALEKYKEENDDFASFRVDRIERVARVRGGEGT
GYFVDFSVRNCPRHHFPRHPNVFGFCRADLFYDVEALDLESPKNLVINCEVFDPQALFCDLFQE
HENINGVPPHLGHPFHWGGHERSSTTKPPFKPHGSRDHHHPHKPHEHGPPPPPDERDHSHGPPL
PQGPPPLLPMSCSSCQHATFGTNGAQRHSHNNNSSDLHPHKHHSHEQHPHGHHPHAHHPHEHDT
HRQHPHGHHPHGHHPHGHHPHGHHPHGHHPHCHDFQDYGPCDPPPHNQGHCCHGHGPPPGHLRR
RGPGKGPRPFHCRQIGSVYRLPPLRKGEVLPLPEANFPSFPLPHHKHPLKPDNQPFPQSVSESC
PGKFKSGFPQVSMFFTHTFPK

hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	3	186,665,990 - 186,666,050	EPDNEW

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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM