HP (haptoglobin)

2007-02-01 Affiliation

Identity

HGNC

LOCATION

16q22.2

LOCUSID

3240

ALIAS

BP,HP2ALPHA2,HPA1S

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3240
MIM: 140100
HGNC: 5141
Ensembl: ENSG00000257017

Variants:

dbSNP: 3240
ClinVar: 3240
TCGA: ENSG00000257017
COSMIC: HP

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000257017	ENST00000228226	A0A087WU08
ENSG00000257017	ENST00000355906	P00738
ENSG00000257017	ENST00000357763	H0Y300
ENSG00000257017	ENST00000398131	P00738
ENSG00000257017	ENST00000562526	H3BMJ7
ENSG00000257017	ENST00000564499	H3BS21
ENSG00000257017	ENST00000565574	A0A0C4DGL8
ENSG00000257017	ENST00000567185	J3QR68
ENSG00000257017	ENST00000567612	J3QLC9
ENSG00000257017	ENST00000568417	J3KSV1
ENSG00000257017	ENST00000569639	J3QQI8
ENSG00000257017	ENST00000570083	P00738
ENSG00000257017	ENST00000576168	J3KRH2
ENSG00000257017	ENST00000613898	A0A087WU08

Expression (GTEx)

5000

10000

15000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Binding and Uptake of Ligands by Scavenger Receptors	REACTOME	R-HSA-2173782
Scavenging of heme from plasma	REACTOME	R-HSA-2168880
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18583979	2008	Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.	395
21248165	2011	Zonulin and its regulation of intestinal barrier function: the biological door to inflammation, autoimmunity, and cancer.	160
18032779	2008	Vitamin E supplementation reduces cardiovascular events in a subgroup of middle-aged individuals with both type 2 diabetes mellitus and the haptoglobin 2-2 genotype: a prospective double-blinded clinical trial.	92
20351714	2011	Poor replication of candidate genes for major depressive disorder using genome-wide association data.	92
19805376	2009	Identification of human zonulin, a physiological modulator of tight junctions, as prehaptoglobin-2.	91
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19131549	2009	Haptoglobin preserves the CD163 hemoglobin scavenger pathway by shielding hemoglobin from peroxidative modification.	69
22629362	2012	Circulating zonulin, a marker of intestinal permeability, is increased in association with obesity-associated insulin resistance.	59
22731712	2012	Zonulin, regulation of tight junctions, and autoimmune diseases.	53
18332093	2008	Haptoglobin genotype: a determinant of cardiovascular complication risk in type 1 diabetes.	51

Citation

Dessen P

HP (haptoglobin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45677/hp