HEPH (hephaestin)

2014-11-01 Affiliation

Identity

HGNC

HEPH

LOCATION

Xq12

LOCUSID

9843

ALIAS

CPL

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: 9843
MIM: 300167
HGNC: 4866
Ensembl: ENSG00000089472

Variants:

dbSNP: 9843
ClinVar: 9843
TCGA: ENSG00000089472
COSMIC: HEPH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000089472	ENST00000336279	Q9BQS7
ENSG00000089472	ENST00000343002	Q9BQS7
ENSG00000089472	ENST00000343002	Q1HE23
ENSG00000089472	ENST00000419594	E7ES21
ENSG00000089472	ENST00000425114	Q5JZ08
ENSG00000089472	ENST00000429547	F8WBZ8
ENSG00000089472	ENST00000441993	A0A0C4DG76
ENSG00000089472	ENST00000458621	Q5JZ07
ENSG00000089472	ENST00000519389	Q9BQS7

Expression (GTEx)

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
Porphyrin and chlorophyll metabolism	KEGG	ko00860
Porphyrin and chlorophyll metabolism	KEGG	hsa00860
Mineral absorption	KEGG	ko04978
Mineral absorption	KEGG	hsa04978
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Metal ion SLC transporters	REACTOME	R-HSA-425410
Iron uptake and transport	REACTOME	R-HSA-917937

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17486601	2007	Colocalization of ferroportin-1 with hephaestin on the basolateral membrane of human intestinal absorptive cells.	25
23640881	2013	Ferroportin and exocytoplasmic ferroxidase activity are required for brain microvascular endothelial cell iron efflux.	20
16274220	2005	Recombinant expression and functional characterization of human hephaestin: a multicopper oxidase with ferroxidase activity.	16
11932491	2002	Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin.	15
19452451	2009	Decreased hephaestin expression and activity leads to decreased iron efflux from differentiated Caco2 cells.	15
20019163	2010	Human hephaestin expression is not limited to enterocytes of the gastrointestinal tract but is also found in the antrum, the enteric nervous system, and pancreatic {beta}-cells.	13
11891802	2002	Cellular location of proteins related to iron absorption and transport.	8
22170436	2012	Ferroportin 1 and hephaestin expression in BeWo cell line with different iron treatment.	8
16137899	2005	Duodenal Dcytb and hephaestin mRNA expression are not significantly modulated by variations in body iron homeostasis.	6
21802403	2011	Oxidation of organic and biogenic amines by recombinant human hephaestin expressed in Pichia pastoris.	5

Citation

Dessen P

HEPH (hephaestin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64238/heph