HP (haptoglobin)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3240
Gene name Gene Name - the full gene name approved by the HGNC.
Haptoglobin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HP
Synonyms (NCBI Gene) Gene synonyms aliases
BP, HP2ALPHA2, HPA1S
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
CEBPB Unknown 11331273
NR1I2 Unknown 19723538
SMAD4 Unknown 11331273
STAT3 Unknown 17645497
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
140100 5141 ENSG00000257017
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anhaptoglobinemia anhaptoglobinemia N/A N/A ClinVar
Show/Hide Text Mining Associations (203)
Associations from Text Mining Disease 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