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HEPH (hephaestin)

Identity

Alias (NCBI)CPL
HGNC (Hugo) HEPH
HGNC Alias symbKIAA0698
CPL
LocusID (NCBI) 9843
Atlas_Id 64238
Location Xq12  [Link to chromosome band Xq12]
Location_base_pair Starts at 66162671 and ends at 66268863 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HLA-C (6p21.33) / HEPH (Xq12)

Note

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

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)HEPH   4866
Cards
Entrez_Gene (NCBI)HEPH    hephaestin
AliasesCPL
GeneCards (Weizmann)HEPH
Ensembl hg19 (Hinxton)ENSG00000089472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089472 [Gene_View]  ENSG00000089472 [Sequence]  chrX:66162671-66268863 [Contig_View]  HEPH [Vega]
ICGC DataPortalENSG00000089472
TCGA cBioPortalHEPH
AceView (NCBI)HEPH
Genatlas (Paris)HEPH
SOURCE (Princeton)HEPH
Genetics Home Reference (NIH)HEPH
Genomic and cartography
GoldenPath hg38 (UCSC)HEPH  -     chrX:66162671-66268863 +  Xq12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEPH  -     Xq12   [Description]    (hg19-Feb_2009)
GoldenPathHEPH - Xq12 [CytoView hg19]  HEPH - Xq12 [CytoView hg38]
ImmunoBaseENSG00000089472
Genome Data Viewer NCBIHEPH [Mapview hg19]  
OMIM300167   
Gene and transcription
Genbank (Entrez)AB014598 AF075034 AF148860 AJ296162 AK022472
RefSeq transcript (Entrez)NM_001130860 NM_001282141 NM_001367232 NM_001367233 NM_001367234 NM_001367236 NM_001367238 NM_001367239 NM_001367240 NM_001367241 NM_001367242 NM_001367243 NM_014799 NM_138737
Consensus coding sequences : CCDS (NCBI)HEPH
Gene ExpressionHEPH [ NCBI-GEO ]   HEPH [ EBI - ARRAY_EXPRESS ]   HEPH [ SEEK ]   HEPH [ MEM ]
Gene Expression Viewer (FireBrowse)HEPH [ Firebrowse - Broad ]
GenevisibleExpression of HEPH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9843
GTEX Portal (Tissue expression)HEPH
Human Protein AtlasENSG00000089472-HEPH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQS7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQS7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQS7
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9BQS7
Domaine pattern : Prosite (Expaxy)MULTICOPPER_OXIDASE1 (PS00079)    MULTICOPPER_OXIDASE2 (PS00080)   
Domains : Interpro (EBI)Cu-oxidase_2    Cu-oxidase_3    Cu_oxidase_CS    Cu_oxidase_Cu_BS    Cupredoxin    HEPH   
Domain families : Pfam (Sanger)Cu-oxidase_2 (PF07731)    Cu-oxidase_3 (PF07732)   
Domain families : Pfam (NCBI)pfam07731    pfam07732   
Conserved Domain (NCBI)HEPH
SuperfamilyQ9BQS7
AlphaFold pdb e-kbQ9BQS7   
Human Protein Atlas [tissue]ENSG00000089472-HEPH [tissue]
HPRD02159
Protein Interaction databases
DIP (DOE-UCLA)Q9BQS7
IntAct (EBI)Q9BQS7
BioGRIDHEPH
STRING (EMBL)HEPH
ZODIACHEPH
Ontologies - Pathways
QuickGOQ9BQS7
Ontology : AmiGOferroxidase activity  ferroxidase activity  copper ion binding  plasma membrane  plasma membrane  copper ion transport  iron ion transport  iron ion transport  cellular iron ion homeostasis  ferrous iron binding  integral component of membrane  basolateral plasma membrane  oxidoreductase activity  perinuclear region of cytoplasm  iron ion homeostasis  
Ontology : EGO-EBIferroxidase activity  ferroxidase activity  copper ion binding  plasma membrane  plasma membrane  copper ion transport  iron ion transport  iron ion transport  cellular iron ion homeostasis  ferrous iron binding  integral component of membrane  basolateral plasma membrane  oxidoreductase activity  perinuclear region of cytoplasm  iron ion homeostasis  
NDEx NetworkHEPH
Atlas of Cancer Signalling NetworkHEPH
Wikipedia pathwaysHEPH
Orthology - Evolution
OrthoDB9843
GeneTree (enSembl)ENSG00000089472
Phylogenetic Trees/Animal Genes : TreeFamHEPH
Homologs : HomoloGeneHEPH
Homology/Alignments : Family Browser (UCSC)HEPH
Gene fusions - Rearrangements
Fusion : QuiverHEPH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEPH
dbVarHEPH
ClinVarHEPH
MonarchHEPH
1000_GenomesHEPH 
Exome Variant ServerHEPH
GNOMAD BrowserENSG00000089472
Varsome BrowserHEPH
ACMGHEPH variants
VarityQ9BQS7
Genomic Variants (DGV)HEPH [DGVbeta]
DECIPHERHEPH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEPH 
Mutations
ICGC Data PortalHEPH 
TCGA Data PortalHEPH 
Broad Tumor PortalHEPH
OASIS PortalHEPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEPH  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHEPH
Mutations and Diseases : HGMDHEPH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHEPH
DgiDB (Drug Gene Interaction Database)HEPH
DoCM (Curated mutations)HEPH
CIViC (Clinical Interpretations of Variants in Cancer)HEPH
Cancer3DHEPH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300167   
Orphanet
DisGeNETHEPH
MedgenHEPH
Genetic Testing Registry HEPH
NextProtQ9BQS7 [Medical]
GENETestsHEPH
Target ValidationHEPH
Huge Navigator HEPH [HugePedia]
ClinGenHEPH
Clinical trials, drugs, therapy
MyCancerGenomeHEPH
Protein Interactions : CTDHEPH
Pharm GKB GenePA29241
PharosQ9BQS7
Clinical trialHEPH
Miscellaneous
canSAR (ICR)HEPH
HarmonizomeHEPH
DataMed IndexHEPH
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHEPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:52:51 CEST 2021

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