HLA-H (major histocompatibility complex, class I, H (pseudogene))

2014-11-01 Affiliation

Identity

HGNC

HLA-H

LOCATION

6p22.1

LOCUSID

3136

ALIAS

HLAHP

FUSION GENES

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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: 3136
HGNC: 4965

Variants:

dbSNP: 3136
ClinVar: 3136
COSMIC: HLA-H

Expression (GTEx)

100

150

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
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	REACTOME	R-HSA-983170
Antigen processing-Cross presentation	REACTOME	R-HSA-1236975
ER-Phagosome pathway	REACTOME	R-HSA-1236974
Endosomal/Vacuolar pathway	REACTOME	R-HSA-1236977
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	REACTOME	R-HSA-198933
Innate Immune System	REACTOME	R-HSA-168249
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Interferon alpha/beta signaling	REACTOME	R-HSA-909733
Interferon gamma signaling	REACTOME	R-HSA-877300
Neutrophil degranulation	REACTOME	R-HSA-6798695

References

Pubmed ID	Year	Title	Citations
33231665	2020	Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy.	17
33231665	2020	Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy.	17
32010122	2019	HLA-H: Transcriptional Activity and HLA-E Mobilization.	6
32010122	2019	HLA-H: Transcriptional Activity and HLA-E Mobilization.	6
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	37
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	37
15350465	2004	Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation.	1
15359910	2004	[Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation].	0
15350465	2004	Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation.	1
15359910	2004	[Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation].	0

Citation

Dessen P

HLA-H (major histocompatibility complex, class I, H (pseudogene))

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64334