Gene Information
Gene NameHEPH
OrganismHomo sapiens (Human)
Gene Length1158
Protein NamesHephaestin (EC 1.-.-.-)
Target NameNA
Target TypeNA
Gene Age950 ( ENSG00000089472 )
Evolutionary StageOpisthokonta
AlphaFoldDBQ9BQS7
Gene CardHEPH
Uniprot IDQ9BQS7
PfamPF07731; PF07732
In ASDno
Allosteric Predictionno (-0.531742063)
Ortholog in AnimalsAlpaca_ HEPH ( ortholog_one2one )
Dog_ HEPH ( ortholog_one2one )
GuineaPig_ HEPH ( ortholog_one2one )
Macaque_ HEPH ( ortholog_one2one )
Mouse_ Heph ( ortholog_one2one )
Pig_ HEPH ( ortholog_one2one )
Rat_ Heph ( ortholog_one2one )
Rabbit_ HEPH ( ortholog_one2one )
OhnologsCP
ParalogsCNTNAP3B, CNTNAP3, CNTNAP3C, CNTNAP4, PDGFD, ASTL, CNTNAP5, MEP1A, NRXN2, CNTNAP2, MFRP, CUZD1, NETO2, TLL2, F5, PCOLCE, CP, NRP1, NRXN3, EDIL3, CNTNAP1, CUBN, MEP1B, NETO1, MFGE8, PCOLCE2, NRP2, HEPHL1, F8, TLL1, NRXN1, DCBLD2, PDGFC, CDCP2, BMP1
TissueNA
Tissue SpecificityDetected in breast, colon, bone trabecular cells and fibroblasts.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs17216603 
Subcellular location [CC]Membrane {ECO:0000305};
Single-pass type I membrane protein {ECO:0000305}.
Mouse PG classificationNA
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