HP (haptoglobin)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3240
Gene name Haptoglobin
Gene symbol HP
Synonyms (NCBI Gene)
BPHP2ALPHA2HPA1S
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 miRNA information provided by mirtarbase database.
13
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
CEBPB Unknown 11331273
NR1I2 Unknown 19723538
SMAD4 Unknown 11331273
STAT3 Unknown 17645497
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
140100 5141 ENSG00000257017
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Scavenging of heme from plasma
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anhaptoglobinemia Uncertain significance; Affects rs778198124, rs5471, rs104894517 RCV000490325
RCV000017248
RCV000017249
HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM Benign rs137853233 RCV000017244
HP-related disorder Benign; Likely benign rs5475, rs373148115, rs5477, rs112933438 RCV003977305
RCV003971591
RCV003943004
RCV003920493
Show/Hide Text Mining Associations (203)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Multiple Associate 30170966
Abortion Habitual Stimulate 25096020
Acute Coronary Syndrome Associate 32870172
Acute Kidney Injury Associate 23761102, 28982674
Adenoma Associate 31784980
alpha Thalassemia Associate 24478401
Amyloidosis Hereditary Transthyretin Related Associate 26147092
Anaphylaxis Associate 10666182, 21497293
Anemia Hemolytic Associate 16637741, 16637743, 18291005
Anemia Sickle Cell Associate 20881411, 36006620, 37970725