HP (haptoglobin)

Gene

• Entrez ID: 3240
• Gene name: Haptoglobin
• Gene symbol: HP
• Synonyms (NCBI Gene): BP, HP2ALPHA2, HPA1S
• Chromosome: 16
• Chromosome location: 16q22.2
• Summary: 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 acce

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1053969	hsa-miR-4492	CLIP-seq
MIRT1053970	hsa-miR-4498	CLIP-seq
MIRT1053971	hsa-miR-762	CLIP-seq
MIRT2012238	hsa-miR-1236	CLIP-seq
MIRT2012239	hsa-miR-3157-3p	CLIP-seq
MIRT2012240	hsa-miR-3929	CLIP-seq
MIRT2012241	hsa-miR-4290	CLIP-seq
MIRT2012242	hsa-miR-4419b	CLIP-seq
MIRT2012243	hsa-miR-4436b-5p	CLIP-seq
MIRT2012244	hsa-miR-4478	CLIP-seq
MIRT2012245	hsa-miR-4645-5p	CLIP-seq
MIRT2012246	hsa-miR-4673	CLIP-seq
MIRT2012247	hsa-miR-874	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPB	Unknown	11331273
NR1I2	Unknown	19723538
SMAD4	Unknown	11331273
STAT3	Unknown	17645497

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0005515	Function	Protein binding	IPI	19758344, 31142615
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 22664934
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19433579, 21805676, 25645918
GO:0006952	Process	Defense response	TAS	7036344
GO:0006953	Process	Acute-phase response	IEA
GO:0006954	Process	Inflammatory response	IDA	19740759
GO:0016209	Function	Antioxidant activity	IEA
GO:0030492	Function	Hemoglobin binding	IDA	19740759
GO:0030492	Function	Hemoglobin binding	IEA
GO:0031638	Process	Zymogen activation	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IDA	19740759
GO:0035580	Component	Specific granule lumen	TAS
GO:0042542	Process	Response to hydrogen peroxide	IDA	19740759
GO:0042742	Process	Defense response to bacterium	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072562	Component	Blood microparticle	IBA
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:2000296	Process	Negative regulation of hydrogen peroxide catabolic process	IDA	19740759

Other IDs

• MIM: 140100
• HGNC: 5141
• e!Ensembl: ENSG00000257017

Protein

• UniProt ID: P00738
• Protein name: Haptoglobin (Zonulin) [Cleaved into: Haptoglobin alpha chain; Haptoglobin beta chain]
• Protein 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. Haptoglo
• PDB: 4WJG, 4X0L, 5HU6, 6TB2, 8XMP, 8XMQ, 8XMW, 9FHB, 9FMU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	162 → 399	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
• Sequence:

  MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRT
  EGDGVYTLNDKKQWINKAVGDKLPECEADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTE
  GDGVYTLNNEKQWINKAVGDKLPECEAVCGKPKNPANPVQRILGGHLDAKGSFPWQAKMV
  SHHNLTTGATLINEQWLLTTAKNLFLNHSENATAKDIAPTLTLYVGKKQLVEIEKVVLHP
  NYSQVDIGLIKLKQKVSVNERVMPICLPSKDYAEVGRVGYVSGWGRNANFKFTDHLKYVM
  LPVADQDQCIRHYEGSTVPEKKTPKSPVGVQPILNEHTFCAGMSKYQEDTCYGDAGSAFA
  VHDLEEDTWYATGILSFDKSCAVAEYGVYVKVTSIQDWVQKTIAEN

• Sequence length: 406

Pathways

Reactome:

Scavenging of heme from plasma
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhaptoglobinemia	Uncertain significance; Affects	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATIONS OF DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES COMPLICATIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HP-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PREGNANCY-INDUCED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREGNANCY ASSOCIATED HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations