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Aliases for HEPH Gene

Aliases for HEPH Gene

  • Hephaestin 2 3 3 5
  • EC 1.16.3.1 58
  • EC 1.-.-.- 4
  • KIAA0698 4
  • CPL 3

External Ids for HEPH Gene

Previous GeneCards Identifiers for HEPH Gene

  • GC0XP061603
  • GC0XP062847
  • GC0XP063615
  • GC0XP064249
  • GC0XP065165
  • GC0XP065299
  • GC0XP059211

Summaries for HEPH Gene

Entrez Gene Summary for HEPH Gene

  • 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]

GeneCards Summary for HEPH Gene

HEPH (Hephaestin) is a Protein Coding gene. Diseases associated with HEPH include Hemochromatosis and Deficiency Anemia. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include oxidoreductase activity and ferrous iron binding. An important paralog of this gene is HEPHL1.

UniProtKB/Swiss-Prot for HEPH Gene

  • 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.

Additional gene information for HEPH Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPH Gene

Genomics for HEPH Gene

Regulatory Elements for HEPH Gene

Enhancers for HEPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH066160 1 ENCODE 10 +1.9 1918 7 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 NCOA1 REST SMARCB1 HEPH GC0XM065963
GH0XH065996 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -162.5 -162481 8 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 CAVIN1 GTF2B MSN HEPH ENSG00000237311 GC0XP066014
GH0XH066006 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.2 -147.4 -147365 16 PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ELK1 ATF7 RUNX3 VSIG4 MSN HEPH ENSG00000274536 GC0XP066014
GH0XH066074 1.1 FANTOM5 Ensembl ENCODE 3.9 -87.4 -87404 1 FOSL1 POLR2A IKZF1 ZNF175 ZBTB40 IKZF2 GABPA VSIG4 HEPH MSN EIF4BP9 LOC392485
GH0XH066632 1.1 Ensembl ENCODE 3.6 +473.6 473612 7 MXI1 SAP130 ZFP64 MAX EBF1 HIC1 ZNF366 POLR2A EED SCRT2 RNU6-394P EDA2R HEPH PIR62183
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEPH on UCSC Golden Path with GeneCards custom track

Genomic Location for HEPH Gene

Chromosome:
X
Start:
66,162,519 bp from pter
End:
66,268,867 bp from pter
Size:
106,349 bases
Orientation:
Plus strand

Genomic View for HEPH Gene

Genes around HEPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEPH Gene

Proteins for HEPH Gene

  • Protein details for HEPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQS7-HEPH_HUMAN
    Recommended name:
    Hephaestin
    Protein Accession:
    Q9BQS7
    Secondary Accessions:
    • B1AJX8
    • D3DVT7
    • E9PHN8
    • O75180
    • Q6UW45
    • Q9C058

    Protein attributes for HEPH Gene

    Size:
    1158 amino acids
    Molecular mass:
    130449 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89349.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAX05385.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAX05388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for HEPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEPH Gene

Selected DME Specific Peptides for HEPH Gene

Q9BQS7:
  • HCHVTDH
  • HLGILGP
  • IYHSHVDAP
  • YYSAVDP

Post-translational modifications for HEPH Gene

  • Glycosylation at posLast=164164, posLast=236236, isoforms=2, 3, 4588, isoforms=2, 3, 4714, isoforms=2, 3, 4758, isoforms=2, 3, 4829, isoforms=2, 3, 4873, posLast=931931, and posLast=10701070
  • Modification sites at PhosphoSitePlus

Domains & Families for HEPH Gene

Gene Families for HEPH Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HEPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQS7

UniProtKB/Swiss-Prot:

HEPH_HUMAN :
  • Belongs to the multicopper oxidase family.
Family:
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with HEPH: view

Function for HEPH Gene

Molecular function for HEPH Gene

UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for HEPH Gene

Phenotypes From GWAS Catalog for HEPH Gene

Gene Ontology (GO) - Molecular Function for HEPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity IMP 22961397
GO:0005507 copper ion binding IMP,IEA 22961397
GO:0008198 ferrous iron binding IMP 22961397
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HEPH: view
genes like me logo Genes that share phenotypes with HEPH: view

Animal Models for HEPH Gene

MGI Knock Outs for HEPH:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEPH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEPH Gene

Localization for HEPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEPH Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEPH gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HEPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 20019163
GO:0005886 plasma membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 20019163
genes like me logo Genes that share ontologies with HEPH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEPH Gene

Pathways & Interactions for HEPH Gene

genes like me logo Genes that share pathways with HEPH: view

Interacting Proteins for HEPH Gene

Gene Ontology (GO) - Biological Process for HEPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport IEA --
GO:0006826 iron ion transport IMP,IEA 22961397
GO:0006879 cellular iron ion homeostasis IEA,TAS --
genes like me logo Genes that share ontologies with HEPH: view

No data available for SIGNOR curated interactions for HEPH Gene

Drugs & Compounds for HEPH Gene

(2) Drugs for HEPH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Carrier, binder 188

(1) Additional Compounds for HEPH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with HEPH: view

Transcripts for HEPH Gene

Unigene Clusters for HEPH Gene

Hephaestin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEPH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HEPH Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - -
SP2: -
SP3:
SP4: - -

Relevant External Links for HEPH Gene

GeneLoc Exon Structure for
HEPH
ECgene alternative splicing isoforms for
HEPH

Expression for HEPH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEPH Gene

This gene is overexpressed in Colon - Transverse (x5.2) and Colon - Sigmoid (x4.4).

Protein differential expression in normal tissues from HIPED for HEPH Gene

This gene is overexpressed in Heart (23.6), Fetal gut (14.9), and Colon (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HEPH Gene



Protein tissue co-expression partners for HEPH Gene

NURSA nuclear receptor signaling pathways regulating expression of HEPH Gene:

HEPH

SOURCE GeneReport for Unigene cluster for HEPH Gene:

Hs.31720

mRNA Expression by UniProt/SwissProt for HEPH Gene:

Q9BQS7-HEPH_HUMAN
Tissue specificity: Detected in breast, colon, bone trabecular cells and fibroblasts.

Evidence on tissue expression from TISSUES for HEPH Gene

  • Intestine(4.8)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with HEPH: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HEPH Gene

Orthologs for HEPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEPH 33
  • 96.04 (n)
dog
(Canis familiaris)
Mammalia HEPH 33 34
  • 88.84 (n)
cow
(Bos Taurus)
Mammalia HEPH 33 34
  • 88.4 (n)
mouse
(Mus musculus)
Mammalia Heph 33 16 34
  • 85.35 (n)
rat
(Rattus norvegicus)
Mammalia Heph 33
  • 85.31 (n)
oppossum
(Monodelphis domestica)
Mammalia HEPH 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEPH 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEPH 33 34
  • 66.03 (n)
lizard
(Anolis carolinensis)
Reptilia HEPH 34
  • 59 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for HEPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HEPH Gene

ENSEMBL:
Gene Tree for HEPH (if available)
TreeFam:
Gene Tree for HEPH (if available)

Paralogs for HEPH Gene

Paralogs for HEPH Gene

(7) SIMAP similar genes for HEPH Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with HEPH: view

Variants for HEPH Gene

Sequence variations from dbSNP and Humsavar for HEPH Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000033768 -- 66,200,399(+) ATAGA(A/G)AGGAA intron-variant
rs1000050934 -- 66,254,247(+) TAATG(A/T)TAATT intron-variant
rs1000099804 -- 66,252,310(+) GAGGT(G/T)CCAAG intron-variant
rs1000110123 -- 66,200,812(+) GGGGT(C/G/T)GGGAA intron-variant
rs1000143440 -- 66,209,322(+) TATCA(A/G)GATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEPH Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv3574014 CNV loss 25503493
esv3576919 CNV gain 25503493
nsv1078114 CNV duplication 25765185
nsv1110609 CNV duplication 24896259
nsv1141685 CNV duplication 24896259
nsv1154108 CNV duplication 26484159

Variation tolerance for HEPH Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.86; 48.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEPH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPH Gene

Disorders for HEPH Gene

MalaCards: The human disease database

(5) MalaCards diseases for HEPH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis
  • hfe hemochromatosis, modifier of
deficiency anemia
  • anemia
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
epileptic encephalopathy, early infantile, 36
  • congenital disorder of glycosylation, type iu
atransferrinemia
  • familial hypotransferrinemia
- elite association - COSMIC cancer census association via MalaCards
Search HEPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for HEPH

Genetic Association Database (GAD)
HEPH
Human Genome Epidemiology (HuGE) Navigator
HEPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEPH
genes like me logo Genes that share disorders with HEPH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEPH Gene

Publications for HEPH Gene

  1. Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin. (PMID: 11932491) Syed BA … Srai SK (Protein engineering 2002) 3 4 22 60
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 60
  3. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. (PMID: 20932654) Kerns SL … Rosenstein BS (International journal of radiation oncology, biology, physics 2010) 3 45 60
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 45 60
  5. 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. (PMID: 20019163) Hudson DM … MacGillivray RT (American journal of physiology. Gastrointestinal and liver physiology 2010) 3 22 60

Products for HEPH Gene

Sources for HEPH Gene

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