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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HP Gene

protein-coding GIFtS: 63
GCID: GC16P072089

haptoglobin

Explore 234 diseases affiliated with
HP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Haptoglobin¹		Haptoglobin Alpha(2FS)-Beta²
BP²		Haptoglobin, Alpha Polypeptide²
HP2ALPHA2²		Haptoglobin, Beta Polypeptide²
HPA1S²		Zonulin³
Binding Peptide²		Zonulin³
Haptoglobin Alpha(1S)-Beta²

External Ids:	HGNC: 5141¹	Entrez Gene: 3240²	Ensembl: ENSG00000257017⁷	OMIM: 140100⁵	UniProtKB: P00738³

Export aliases for HP gene to outside databases

Previous GC identifers: GC16P062982 GC16P072811 GC16P071824 GC16P071864 GC16P070646 GC16P057856

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HP:

This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine

as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative

enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and

protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause

ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of

coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing

cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum

malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738

Function: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine.

Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent

kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and plays a role in

modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidely cleared by the

macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal

degradation pathway

Function: Uncleaved haptoglogin, also known as zonulin, plays a role in intestinal permeability, allowing intercellular

tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens

Gene Wiki entry for HP (User talk:I9606/phosphotest)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HP gene promoter:
CREB SRY AP-1 deltaCREB ATF-2 c-Jun Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HP promoter sequence

Search SABiosciences Chromatin IP Primers for HP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.2 Ensembl cytogenetic band: 16q22.2 HGNC cytogenetic band: 16q22.2

HP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HP gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P072089: view genomic region (about GC identifiers)

Start:	72,088,491 bp from pter	End:	72,094,955 bp from pter
Size:	6,465 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738 (See protein sequence)

Recommended Name: Haptoglobin precursor

Size: 406 amino acids; 45205 Da

Subunit: Tetramer of two alpha and two beta chains; disufide-linked. The Hemoglobin/haptoglobin complex is composed of

a haptoglobin dimer bound to two hemoglobin alpha-beta dimers. Interacts with CD163

Subcellular location: Secreted

Caution: Although homologous to serine proteases, it has lost all essential catalytic residues and has no enzymatic

activity

Secondary accessions: B0AZL5 P00737 Q0VAC4 Q2PP15 Q3B7J0 Q6LBY9 Q9UC67

Explore the universe of human proteins at neXtProt for HP: NX_P00738

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00738

HP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001119574.1 NP_005134.1

ENSEMBL proteins:

ENSP00000457629 ENSP00000348170 ENSP00000463755 ENSP00000456503 ENSP00000350406

ENSP00000454413 ENSP00000454966 ENSP00000462662 ENSP00000461999 ENSP00000464070

ENSP00000463491 ENSP00000381199

Reactome Protein details: P00738
Human Recombinant Protein Products:

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	Novus Biologicals HP Protein Novus Biologicals HP Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for HP
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005615	extracellular space	IDA	19433579
GO:0031838	haptoglobin-hemoglobin complex	IDA	19740759

HP for ontologies About GeneDecksing

HP Antibody Products:

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	Abcam antibodies for HP
	Browse Antibodies at Uscn
	ThermoFisher Antibody for HP

Assay Products for HP:

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	GenScript Custom Assay Services for HP
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HP for domains About GeneDecksing

4 InterPro domains/families:

IPR001314 Peptidase_S1A

IPR000436 Sushi_SCR_CCP

IPR001254 Peptidase_S1

IPR009003 Trypsin-like_Pept_dom

Graphical View of Domain Structure for InterPro Entry P00738

ProtoNet protein and cluster: P00738

3 Blocks protein families:

IPB000436 Sushi domain/SCR domain/CCP module

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 1 peptidase S1 domain

Similarity: Contains 2 Sushi (CCP/SCR) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738

Function: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine.

Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent

kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and plays a role in

modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidely cleared by the

macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal

degradation pathway

Function: Uncleaved haptoglogin, also known as zonulin, plays a role in intestinal permeability, allowing intercellular

tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens

Genatlas biochemistry entry for HP:

haptoglobin,expressed in liver

miRNA Products:		OriGene 3'-UTR Clone (see all 2): HP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HP
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		SwitchGear 3'UTR luciferase reporter plasmid: HP 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HP (see all 7) OriGene shRNA RFP: HP OriGene siRNA: HP
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for HP

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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HP
		Search LifeMap BioReagents cell lines for HP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HP

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	IEA	--
GO:0004252	serine-type endopeptidase activity	--	--
GO:0016209	antioxidant activity	IEA	--
GO:0030492	hemoglobin binding	IDA	19740759

HP for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Hp^tm1Skl for HP
     9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Hp):

cardiovascular system	cellular	hematopoietic system	homeostasis/metabolism	immune system
liver/biliary system	mortality/aging	renal/urinary system	tumorigenesis

HP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cleavage of Alpha-1-Microglobulin

Scavenging of Heme from Plasma

0.79

Binding and Uptake of Ligands by Scavenger Receptors

0.79

amb2 Integrin signaling

amb2 Integrin signaling

1.00

O2/CO2 exchange in erythrocytes

Endocytosis of Hemoglobin:Haptoglobin:CD163

0.20

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for HP

amb2 Integrin signaling

3 Reactome Pathways for HP

	Scavenging of Heme from Plasma
	Binding and Uptake of Ligands by Scavenger Receptors
	Endocytosis of Hemoglobin:Haptoglobin:CD163

HP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/28 Interacting proteins for HP (P00738^{2, 3} ENSP00000348170⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APOE	P02649²^,³, ENSP00000252486⁴	MINT-7258801 MINT-7258760 MINT-7258778 MINT-7258819 MINT-7258848 MINT-7258877 MINT-7258791 I2D: score=2 STRING: ENSP00000252486
APOA1	P02647²^,³, ENSP00000236850⁴	MINT-7258829 MINT-7258811 MINT-7258868 I2D: score=2 STRING: ENSP00000236850
ADAMTS4	O75173³, ENSP00000356975⁴	I2D: score=2 STRING: ENSP00000356975
MIS12	Q9H081³, ENSP00000370557⁴	I2D: score=2 STRING: ENSP00000370557
RBBP6	Q7Z6E9³, ENSP00000317872⁴	I2D: score=2 STRING: ENSP00000317872

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	--	--
GO:0006879	cellular iron ion homeostasis	NAS	--
GO:0006952	defense response	TAS	7036344
GO:0006953	acute-phase response	IEA	--
GO:0010942	positive regulation of cell death	IDA	19740759

HP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HP

1 HMDB Compound for HP About this table

Compound	Synonyms	CAS #	PubMed Ids
Iron	Armco iron (see all 19)	7439-89-6	--

10/104 Novoseek chemical compound relationships for HP gene (see all 104) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen	76.2	248	9061799 (5), 12669191 (5), 7586584 (4), 11761799 (4) (see all 99)
alpha 2 macroglobulin	63.7	2	16061437 (1), 17096854 (1)
iron	59.1	161	12392310 (6), 18771759 (6), 16256097 (5), 16637741 (5) (see all 73)
polyacrylamide	52.5	39	15167774 (2), 7663994 (2), 19259359 (1), 15588436 (1) (see all 30)
urobilinogen	47.8	2	1487178 (1), 1810610 (1)
sialic acid	45.3	37	1376373 (3), 1382109 (3), 1479646 (2), 17970534 (2) (see all 17)
lactate	44.9	53	9415351 (2), 10703667 (1), 19809007 (1), 2170094 (1) (see all 49)
cholesterol	41	65	8872771 (5), 1424232 (4), 7831994 (3), 17369214 (2) (see all 40)
gp 130	39.8	6	18636446 (1), 8662918 (1), 9466305 (1), 10406952 (1) (see all 5)
benzidine	36	4	19259359 (1), 10762581 (1), 9861405 (1)

Search CenterWatch for drugs/clinical trials and news about HP / HPT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HP gene (2 alternative transcripts):

NM_001126102.1 NM_005143.3

Unigene Clusters for HP:

Haptoglobin

Hs.513711 [show with all ESTs], Hs.702099 [show with all ESTs]

Unigene Representative Sequences: NM_005143, BE971190

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000570083(uc010cgm.3) ENST00000355906(uc002fbr.4 uc002fbt.4)

ENST00000565807 ENST00000562488 ENST00000569639 ENST00000564499 ENST00000357763

ENST00000566821 ENST00000562526 ENST00000565574 ENST00000568417 ENST00000561927

ENST00000576168 ENST00000567185 ENST00000567612 ENST00000398131(uc021tld.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): HP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HP
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate HP
		SwitchGear 3'UTR luciferase reporter plasmid: HP 3' UTR sequence

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HP

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		GenScript: all cDNA clones in your preferred vector (see all 3): HP (NM_013406)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HP

Additional cDNA sequence: BC070299.1

24/36 DOTS entries (see all 36):

DT.100891457 DT.87078343 DT.91917890 DT.92457468 DT.92457420 DT.92326983 DT.100891439 DT.100891426

DT.101986397 DT.100891447 DT.100891427 DT.120676218 DT.420546 DT.95126987 DT.100891448 DT.120676226

DT.92457400 DT.100039552 DT.100841660 DT.120676090 DT.92457428 DT.100039547 DT.100891420 DT.100891421

24/1046 AceView cDNA sequences (see all 1046):

AL558075 CB137659 BG618639 CB135175 BX427992 CB137780 CD742602 CB111976

BQ876863 CB153851 AI061661 CB120371 CB111953 CB115361 BC017862 CB121446

CB122315 CB154261 AV647168 CB111954 BQ651476 CB115378 BQ643705 CB113515

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTAAGTACC

About this image

HP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Ovary

Bone

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

White adipocyte-like cells (Differentiation of ...)

Adipose

See HP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HP

SOURCE GeneReport for Unigene clusters: Hs.513711 Hs.702099

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738

Tissue specificity: Expressed by the liver and secreted in plasma

SABiosciences Custom PCR Arrays for HP

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HP gene from 1/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	hp⁶	haptoglobin	28(a)	1 → many	7(57840785-57847584)

ENSEMBL Gene Tree for HP (if available)
TreeFam Gene Tree for HP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HP gene

PROZ² PAMR1² C1S² C1R² C1RL² F9² MASP1² F10²

F2² HPR² PROC² F7² MASP2²

18/39 SIMAP similar genes for HP using alignment to 13 protein entries: HPT_HUMAN (see all proteins) (see all similar genes):

HPR TMPRSS11F TMPRSS11A F2 TMPRSS11B F11

HPN PRSS21 TMPRSS15 TMPRSS7 KLKB1 TMPRSS11D

DKFZp586F0824 F7 TMPRSS4 serase-1B TMPRSS13 TMPRSS5

HP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738

Polymorphism: In the human populations there are two major allelic forms, alpha-1 (1-1) with 83 residues and alpha-2

(2-2) with 142 residues. These alleles determine 3 possible genotypes, homozygous (1-1 or 2-2) and heterozygous (2-1),

and 3 major phenotypes HP*1F/HP*1S and HP*2FS. The two main alleles of HP*1 are called HP*1F (fast) and HP*1S (slow).

The alleles exhibit different oligomerization properties. In healthy males, but not in females, the Hp 2-2 phenotype

is associated with higher serum iron, decreased Antimicrobial; Antioxidant capability, and less efficient clearance

from the circulation, than Hp 1-1 and 2-1

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894517^1,2	C	other	72094308(+)	`AGATAC/TTGGGC`	4	T I	mis¹		0	--	--	--	--
rs28610193^1,2	C,F,	--	57862144(+)	`GCCTCC/TTCAAA`	1	--	us2k¹		5		NA NS WA	214
rs8056409^1,2	C,F,A,	--	57862146(+)	`CTCCTC/TAAAGT`	1	--	us2k¹		5		NS NA WA	212
rs2854693^1,2	H	--	57862177(+)	`GGCCTG/TGTTGA`	1	--	us2k¹		4		NS EA	414
rs437638^1,2	C,F,,	--	57862284(-)	`TCATTG/ATCTTT`	1	--	us2k¹		5		NS NA	218
rs398580^1,2	C,F,,	--	57862285(-)	`ATCATT/CGTCTT`	1	--	us2k¹		6		MN NS NA	402
rs7201866^1,2	C,A,	--	72086534(+)	`GTGGTT/ATTGAT`	2	--	us2k¹		11		NA WA CSA EA	372
rs7203426^1,2	C,F,A,H,	--	72086555(+)	`CCCTAT/CTGACA`	2	--	us2k¹		16		NS EA NA WA	1126
rs36071424^1,2	C	--	72086583(+)	`TTTTTT/-GACGA`	2	--	us2k¹		1		NA	2
rs7202268^1,2	C,F,A,	--	72086746(+)	`GCCTGG/ACTAAT`	2	--	us2k¹		10		NA WA CSA EA	371

HapMap Linkage Disequilibrium report for HP (72088491 - 72094955 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 13 variations for HP
13 CNVs: 30787 77406 88199 10506 4011 43932 32132 88200 77404 67029 77407 88198 102328
Human Gene Mutation Database (HGMD): HP

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HP

DNA2.0 Custom Variant and Variant Library Synthesis for HP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HP for disorders About GeneDecksing

OMIM gene information: 140100 OMIM disorders: --

UniProtKB/Swiss-Prot: HPT_HUMAN, P00738

Defects in HP are the cause of anhaptoglobinemia (AHP) [MIM:614081]. AHP is a condition characterized by the

absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low

in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such

as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to

free hemoglobin

20/234 diseases for HP (see all 234): About MalaCards

plasmodium falciparum malaria sclerosing cholangitis primary sclerosing cholangitis heme oxygenase-1 deficiency

cholangitis pure red-cell aplasia crohn's disease nephropathy

protein-energy malnutrition malaria parkinson's disease paroxysmal cold hemoglobinuria

paroxysmal nocturnal hemoglobinuria cluster headache extrinsic allergic alveolitis lipoprotein lipase deficiency

diffuse large b-cell lymphoma guillain-barre syndrome thrombotic thrombocytopenic purpura cold agglutinin disease

14 diseases from the University of Copenhagen DISEASES database for HP:

Anemia Autoimmune hemolytic anemia Mastitis Vascular disease

Glucosephosphate dehydrogenase deficiency Malaria Cancer Kidney disease

Liver disease Thrombocytopenia Arthritis Tuberculosis

Heart disease Diabetes mellitus

10/95 Novoseek disease relationships for HP gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hemolysis intravascular	84.5	25	8497113 (2), 7997790 (2), 11580905 (2), 7865954 (1) (see all 18)
response acute phase	84	38	9056748 (2), 11176144 (1), 14668016 (1), 1725175 (1) (see all 32)
hemolysis	83.2	117	16506966 (5), 11588465 (4), 2255063 (2), 15563430 (2) (see all 92)
anemia hemolytic	70.2	16	17974404 (2), 7955584 (1), 1795445 (1), 1726769 (1) (see all 15)
hemoglobinemia	62.6	1	11788929 (1)
inflammation	61.6	82	12669191 (6), 9352226 (2), 19440331 (2), 1693992 (1) (see all 59)
hemoglobinuria	61.4	7	8136596 (2), 2255063 (1), 8163802 (1), 11340138 (1) (see all 6)
autoimmune hemolytic anemia	56.3	1	20376581 (1)
anemia hemolytic microangiopathic	55.4	2	15813170 (1), 11431643 (1)
hellp syndrome	54.5	12	10476616 (2), 8963883 (1), 11709744 (1), 8841812 (1) (see all 10)

Genatlas disease: HP

haptoglobinemia,Hp0 phenotype (HP deletion)

Genetic Association Database (GAD): HP
Human Genome Epidemiology (HuGE) Navigator: HP (551 documents)

Export disorders for HP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HP gene, integrated from 9 sources (see all 1335):
(articles sorted by number of sources associating them with HP)

Utopia: connect your pdf to the dynamic
world of online information

Limited influence of haptoglobin genotypes on severe malaria in Ghanaian children. (PubMed id 15960705)^{1, 4, 9} Bienzle U....Mockenhaupt F.P. (2005)
The relationship between haptoglobin polymorphism and serum ceruloplasmin ferroxidase activity. (PubMed id 15103512)^{1, 4, 9} Janaydeh M....Awadallah S. (2004)
Haptoglobin genotype is predictive of major adverse cardiac events in the 1-year period after percutaneous transluminal coronary angioplasty in individuals with diabetes. (PubMed id 12941730)^{1, 4, 9} Roguin A....Levy A.P. (2003)
Haptoglobin polymorphism is a risk factor for cardiovascular disease in patients with obstructive sleep apnea syndrome. (PubMed id 12938813)^{1, 4, 9} Lavie L....Levy A.P. (2003)
Haptoglobin genotypes are not associated with resistance to severe malaria in The Gambia. (PubMed id 12174790)^{1, 4, 9} Aucan C....Hill A.V. (2002)
Oxidized low-density lipoprotein, iron stores, and haptoglobin polymorphism. (PubMed id 15306193)^{1, 4, 9} Brouwers A....Blaton V. (2004)
Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C. (PubMed id 11564959)^{1, 4, 9} Van Vlierberghe H....Leroux-Roels G. (2001)
Haptoglobin phenotype and diabetic nephropathy. (PubMed id 11380078)^{1, 4, 9} Nakhoul F.M....Levy A.P. (2001)
Biological functions of haptoglobin--new pieces to an old puzzle. (PubMed id 9352226)^{1, 3, 9} Dobryszycka W. (1997)
Interaction between haptoglobin subtypes and AB0 blood groups in a Bengalee population. (PubMed id 16176058)^{1, 4, 9} Bandyopadhyay A.R. and Roy J.G. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3240	HGNC: 5141	AceView: HPandHPR	Ensembl:ENSG00000257017	euGenes: HUgn3240
ECgene: HP	H-InvDB: HP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HP	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HP
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HP
Wikipedia	http://en.wikipedia.org/wiki/Haptoglobin

Intellectual Property for HP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for HP gene:
Search GeneIP for patents involving HP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Congenital Disorders
Fatty Liver
Spondylitis Ankylosing
Autoimmune hemolytic anemia
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Genetic Susceptibility
essential hypertension
UREMIC SYNDROME
Malaria
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HEMOLYSIS INTRAVASCULAR
allergy
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TRANSFUSION REACTION
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HEMORRHAGIC PANCREATITIS
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HP Gene

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