Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9843
Gene name	Hephaestin
Gene symbol	HEPH
Synonyms (NCBI Gene)	CPLHp
Chromosome	X
Chromosome location	Xq12
Summary	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 h

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miRTarBase ID	miRNA	Experiments	Reference
MIRT526182	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT526181	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT526180	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT526178	hsa-miR-4786-3p	PAR-CLIP	22012620
MIRT526179	hsa-miR-873-3p	PAR-CLIP	22012620
MIRT526182	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT526181	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT526180	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT526178	hsa-miR-4786-3p	PAR-CLIP	22012620
MIRT526179	hsa-miR-873-3p	PAR-CLIP	22012620
MIRT1044241	hsa-miR-3192	CLIP-seq
MIRT1044242	hsa-miR-370	CLIP-seq
MIRT1044243	hsa-miR-4731-5p	CLIP-seq
MIRT2009607	hsa-miR-4698	CLIP-seq
MIRT2545580	hsa-miR-1200	CLIP-seq
MIRT2545581	hsa-miR-1244	CLIP-seq
MIRT2545582	hsa-miR-1270	CLIP-seq
MIRT2545583	hsa-miR-1273d	CLIP-seq
MIRT2545584	hsa-miR-146a	CLIP-seq
MIRT2545585	hsa-miR-146b-5p	CLIP-seq
MIRT2545586	hsa-miR-28-5p	CLIP-seq
MIRT2545587	hsa-miR-3064-3p	CLIP-seq
MIRT2545588	hsa-miR-3074-5p	CLIP-seq
MIRT2545589	hsa-miR-3119	CLIP-seq
MIRT2545590	hsa-miR-3124-3p	CLIP-seq
MIRT2545591	hsa-miR-3139	CLIP-seq
MIRT2545592	hsa-miR-3150b-3p	CLIP-seq
MIRT2545593	hsa-miR-323b-3p	CLIP-seq
MIRT2545594	hsa-miR-3609	CLIP-seq
MIRT2545595	hsa-miR-3613-5p	CLIP-seq
MIRT2545596	hsa-miR-3614-3p	CLIP-seq
MIRT2545597	hsa-miR-3614-5p	CLIP-seq
MIRT2545598	hsa-miR-3653	CLIP-seq
MIRT2545599	hsa-miR-3658	CLIP-seq
MIRT2545600	hsa-miR-3973	CLIP-seq
MIRT2545601	hsa-miR-4257	CLIP-seq
MIRT2545602	hsa-miR-4277	CLIP-seq
MIRT2545603	hsa-miR-432	CLIP-seq
MIRT2545604	hsa-miR-4320	CLIP-seq
MIRT2545605	hsa-miR-4324	CLIP-seq
MIRT2545606	hsa-miR-4420	CLIP-seq
MIRT2545607	hsa-miR-4428	CLIP-seq
MIRT2545608	hsa-miR-4434	CLIP-seq
MIRT2545609	hsa-miR-4480	CLIP-seq
MIRT2545610	hsa-miR-4511	CLIP-seq
MIRT2545611	hsa-miR-4516	CLIP-seq
MIRT2545612	hsa-miR-4531	CLIP-seq
MIRT2545613	hsa-miR-4689	CLIP-seq
MIRT2009607	hsa-miR-4698	CLIP-seq
MIRT2545614	hsa-miR-4724-3p	CLIP-seq
MIRT2545615	hsa-miR-4757-5p	CLIP-seq
MIRT2545616	hsa-miR-4778-3p	CLIP-seq
MIRT2545617	hsa-miR-4784	CLIP-seq
MIRT2545618	hsa-miR-510	CLIP-seq
MIRT2545619	hsa-miR-512-5p	CLIP-seq
MIRT2545620	hsa-miR-513a-3p	CLIP-seq
MIRT2545621	hsa-miR-520a-5p	CLIP-seq
MIRT2545622	hsa-miR-520g	CLIP-seq
MIRT2545623	hsa-miR-520h	CLIP-seq
MIRT2545624	hsa-miR-525-5p	CLIP-seq
MIRT2545625	hsa-miR-544b	CLIP-seq
MIRT2545626	hsa-miR-548ah	CLIP-seq
MIRT2545627	hsa-miR-548b-3p	CLIP-seq
MIRT2545628	hsa-miR-595	CLIP-seq
MIRT2545629	hsa-miR-620	CLIP-seq
MIRT2545630	hsa-miR-660	CLIP-seq
MIRT2545631	hsa-miR-708	CLIP-seq
MIRT2545632	hsa-miR-885-3p	CLIP-seq
MIRT2545633	hsa-miR-890	CLIP-seq
MIRT2545634	hsa-miR-892b	CLIP-seq
MIRT2545580	hsa-miR-1200	CLIP-seq
MIRT2545581	hsa-miR-1244	CLIP-seq
MIRT2545582	hsa-miR-1270	CLIP-seq
MIRT2545583	hsa-miR-1273d	CLIP-seq
MIRT2545584	hsa-miR-146a	CLIP-seq
MIRT2545585	hsa-miR-146b-5p	CLIP-seq
MIRT2545586	hsa-miR-28-5p	CLIP-seq
MIRT2545587	hsa-miR-3064-3p	CLIP-seq
MIRT2545588	hsa-miR-3074-5p	CLIP-seq
MIRT2545589	hsa-miR-3119	CLIP-seq
MIRT2545590	hsa-miR-3124-3p	CLIP-seq
MIRT2545591	hsa-miR-3139	CLIP-seq
MIRT2545592	hsa-miR-3150b-3p	CLIP-seq
MIRT2545593	hsa-miR-323b-3p	CLIP-seq
MIRT2545594	hsa-miR-3609	CLIP-seq
MIRT2545595	hsa-miR-3613-5p	CLIP-seq
MIRT2545596	hsa-miR-3614-3p	CLIP-seq
MIRT2545597	hsa-miR-3614-5p	CLIP-seq
MIRT2545598	hsa-miR-3653	CLIP-seq
MIRT2545599	hsa-miR-3658	CLIP-seq
MIRT2545600	hsa-miR-3973	CLIP-seq
MIRT2545601	hsa-miR-4257	CLIP-seq
MIRT2545602	hsa-miR-4277	CLIP-seq
MIRT2545603	hsa-miR-432	CLIP-seq
MIRT2545604	hsa-miR-4320	CLIP-seq
MIRT2545605	hsa-miR-4324	CLIP-seq
MIRT2545606	hsa-miR-4420	CLIP-seq
MIRT2545607	hsa-miR-4428	CLIP-seq
MIRT2545608	hsa-miR-4434	CLIP-seq
MIRT2545609	hsa-miR-4480	CLIP-seq
MIRT2545610	hsa-miR-4511	CLIP-seq
MIRT2545611	hsa-miR-4516	CLIP-seq
MIRT2545612	hsa-miR-4531	CLIP-seq
MIRT2545613	hsa-miR-4689	CLIP-seq
MIRT2009607	hsa-miR-4698	CLIP-seq
MIRT2545614	hsa-miR-4724-3p	CLIP-seq
MIRT2545615	hsa-miR-4757-5p	CLIP-seq
MIRT2545616	hsa-miR-4778-3p	CLIP-seq
MIRT2545617	hsa-miR-4784	CLIP-seq
MIRT2545618	hsa-miR-510	CLIP-seq
MIRT2545619	hsa-miR-512-5p	CLIP-seq
MIRT2545620	hsa-miR-513a-3p	CLIP-seq
MIRT2545621	hsa-miR-520a-5p	CLIP-seq
MIRT2545622	hsa-miR-520g	CLIP-seq
MIRT2545623	hsa-miR-520h	CLIP-seq
MIRT2545624	hsa-miR-525-5p	CLIP-seq
MIRT2545625	hsa-miR-544b	CLIP-seq
MIRT2545626	hsa-miR-548ah	CLIP-seq
MIRT2545627	hsa-miR-548b-3p	CLIP-seq
MIRT2545628	hsa-miR-595	CLIP-seq
MIRT2545629	hsa-miR-620	CLIP-seq
MIRT2545630	hsa-miR-660	CLIP-seq
MIRT2545631	hsa-miR-708	CLIP-seq
MIRT2545632	hsa-miR-885-3p	CLIP-seq
MIRT2545633	hsa-miR-890	CLIP-seq
MIRT2545634	hsa-miR-892b	CLIP-seq

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Transcription factor	Regulation	Reference
CDX2	Activation	15825077

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IBA
GO:0004322	Function	Ferroxidase activity	IDA	22961397
GO:0004322	Function	Ferroxidase activity	IEA
GO:0004322	Function	Ferroxidase activity	IMP	22961397
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 37277838
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	17486601
GO:0016323	Component	Basolateral plasma membrane	IDA	20019163
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:0160179	Process	Intestinal iron absorption	IEA
GO:0160179	Process	Intestinal iron absorption	ISS
GO:1904040	Process	Positive regulation of iron export across plasma membrane	IEA
GO:1904040	Process	Positive regulation of iron export across plasma membrane	ISS

MIM	HGNC	e!Ensembl
300167	4866	ENSG00000089472

Q9BQS7

Protein name

Hephaestin (Hp) (EC 1.16.3.1)

Protein function

Plasma membrane ferroxidase that mediates the extracellular conversion of ferrous/Fe(2+) iron into its ferric/Fe(3+) form. Couples ferroportin which specifically exports ferrous/Fe(2+) iron from cells to transferrin that only binds and shuttles

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07732	Cu-oxidase_3	80 → 209	Multicopper oxidase	Domain
PF07732	Cu-oxidase_3	452 → 563	Multicopper oxidase	Domain
PF07732	Cu-oxidase_3	807 → 906	Multicopper oxidase	Domain
PF07731	Cu-oxidase_2	943 → 1065	Multicopper oxidase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by intestinal absorptive cells (at protein level) (PubMed:17486601). Also detected in breast, colon, bone trabecular cells and fibroblasts (PubMed:11932491). {ECO:0000269|PubMed:11932491, ECO:0000269|PubMed:17486601}.

Sequence

MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS
FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT
RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC
LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH
LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL
YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS
SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF
SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF
SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF
QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG
HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR
YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG
VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE
SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD
VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE
KAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLR
RNRRSILDDSFKLLSFKQ

Sequence length

1158

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Hormone signaling Mineral absorption		Metal ion SLC transporters Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) Iron uptake and transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMOCHROMATOSIS	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	21051716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASDB_DG	22693459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	11005792, 14724150, 28880952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	29296776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28819251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28819251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	40141249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	26091520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	33673530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	14768003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16641131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29355933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia Type 1	Episodic ataxia	Pubtator	26818092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	36002796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28426086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30680764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	12801950, 12949720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	19892936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	12949720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	19892936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HFE-Associated Hereditary Hemochromatosis	Hemochromatosis	BEFREE	16137899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	16614410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	11897618, 14618243, 29355933, 30060949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14768003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26818092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28819251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	22666411, 28389699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	22666411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26091520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19913091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30904614		★★★★★ ★☆☆☆☆ Found in Text Mining only

HEPH (hephaestin)