You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
HEPH
Hephaestin

Protein Summary
Description
May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1. This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000336279
  • ENSP00000337418
  • ENSG00000089472
  • ENST00000343002
  • ENSP00000343939
  • ENST00000519389
  • ENSP00000430620

Symbol
  • KIAA0698
  • CPL
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.79
protein domain
0.73
co-expressed gene
0.65
transcription factor
0.64
cellular component
0.62


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 162.57   (req: < 5)
Gene RIFs: 14   (req: <= 3)
Antibodies: 136   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 162.57   (req: >= 5)
Gene RIFs: 14   (req: > 3)
Antibodies: 136   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (53)
SLC40A1
Tchem
Family:  Transporter
Novelty:  0.00222468
Score:  0.989
Data Source:  Reactome,STRINGDB
FECH
Tchem
Family:  Enzyme
Novelty:  0.00282289
Score:  0.952
Data Source:  STRINGDB
HMOX1
Tchem
Family:  Enzyme
Novelty:  0.00013981
Score:  0.949
Data Source:  STRINGDB
HMOX2
Tchem
Family:  Enzyme
Novelty:  0.00180703
Score:  0.93
Data Source:  STRINGDB
FXN
Tbio
Novelty:  0.00084064
Score:  0.917
Data Source:  STRINGDB
SLC11A2
Tchem
Family:  Transporter
Novelty:  0.00189409
Score:  0.898
Data Source:  STRINGDB
CYBRD1
Tbio
Family:  Enzyme
Novelty:  0.01128708
Score:  0.872
Data Source:  STRINGDB
CP
Tbio
Novelty:  0.00103285
Score:  0.817
Data Source:  STRINGDB
HAMP
Tbio
Novelty:  0.00035828
Score:  0.809
Data Source:  STRINGDB
HFE
Tbio
Novelty:  0.00042077
Score:  0.808
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (11)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) (R-HSA-5655799)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
Reactome
Disease
Reactome
Disorders of transmembrane transporters
Reactome
Iron uptake and transport
Reactome
Metal ion SLC transporters
Name
Explore in Pharos
Explore in Source
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
Disease
Disorders of transmembrane transporters
Iron uptake and transport
Metal ion SLC transporters
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
1
2
2
83.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
83.3
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
hephaestin
709879
Mouse
MGI:1332240
15203
Rat
RGD:71060
117240
Dog
hephaestin
VGNC:41659
491926
Horse
hephaestin
VGNC:18750
100065379
Species
Name
OMA
EggNOG
Inparanoid
Macaque
hephaestin
Mouse
Rat
Dog
hephaestin
Horse
hephaestin
Publication Statistics
PubMed Score 162.57
PubMed score by year
PubTator Score 59.88
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title