HAMP (hepcidin antimicrobial peptide)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57817
Gene name Hepcidin antimicrobial peptide
Gene symbol HAMP
Synonyms (NCBI Gene)
HEPCHFE2BLEAP1PLTR
Chromosome 19
Chromosome location 19q13.12
Summary The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature p
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs104894695 C>T Pathogenic Coding sequence variant, stop gained
rs104894696 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, risk-factor, benign Coding sequence variant, missense variant
rs763369315 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs1189025914 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT737234 hsa-miR-184 Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCR 33021399
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
CEBPA Activation 18671304
GATA4 Activation 21609320
STAT3 Activation 18671304
STAT3 Unknown 16835372
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0002092 Process Positive regulation of receptor internalization IDA 15514116
GO:0005102 Function Signaling receptor binding IPI 15514116, 22682227
GO:0005179 Function Hormone activity IDA 15514116, 22682227, 29237594
GO:0005179 Function Hormone activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606464 15598 ENSG00000105697
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P81172
Protein name Hepcidin (Liver-expressed antimicrobial peptide 1) (LEAP-1) (Putative liver tumor regressor) (PLTR) [Cleaved into: Hepcidin-25 (Hepc25); Hepcidin-20 (Hepc20)]
Protein function Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting c
PDB 1M4E , 1M4F , 2KEF , 3H0T , 4QAE , 6WBV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06446 Hepcidin 33 → 84 Hepcidin Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine and blood (PubMed:11034317). Expresse
Sequence
Sequence length 84
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Hormone signaling
TGF-beta signaling pathway 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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 Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hemochromatosis type 2B Likely pathogenic; Pathogenic rs200488037, rs1189025914, rs104894695, rs944843686, rs2066319871 RCV003226497
RCV000004504
RCV000004505
RCV000004508
RCV001250720
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemochromatosis, juvenile, digenic Pathogenic rs1422879641 RCV000004506
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemochromatosis Likely pathogenic; Pathogenic rs200488037, rs944843686 RCV002051236
RCV003588556
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (18)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (368)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 29312624
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12393428, 31649559
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 12393428
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 17331161, 22869521, 24894955, 29068390
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30175513
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28057442
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 26310624
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 30517728 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 30517728
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 30517728
★★★★★
★☆☆☆☆
Found in Text Mining only