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This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is in... See more...
Aliases for HEPN1 Gene
Aliases for HEPN1 Gene
External Ids for HEPN1 Gene
- HGNC: 34400
- Entrez Gene: 641654
- Ensembl: ENSG00000221932
- OMIM: 611641
- UniProtKB: Q6WQI6
Previous GeneCards Identifiers for HEPN1 Gene
- GC11U900685
- GC11P124294
- GC11P124789
- GC11P120731
Summaries for HEPN1 Gene
-
This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011]
GeneCards Summary for HEPN1 Gene
HEPN1 (Hepatocellular Carcinoma, Down-Regulated 1) is a Protein Coding gene. Diseases associated with HEPN1 include Hepatocellular Carcinoma.
Additional gene information for HEPN1 Gene
- HGNC(34400)
- Entrez Gene(641654)
- Ensembl(ENSG00000221932)
- OMIM(611641)
- UniProtKB(Q6WQI6)
- Open Targets Platform(ENSG00000221932)
- Search for HEPN1 at DataMed
- Search for HEPN1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEPN1 Gene
Genomics for HEPN1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HEPN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HEPN1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEPN1
- Top Transcription factor binding sites by QIAGEN in the HEPN1 gene promoter:
-
- CUTL1
- Egr-3
- FOXO4
- GATA-1
- ISGF-3
- POU2F1a
- PPAR-gamma1
- PPAR-gamma2
- TBP
- TFIID
Genomic Locations for HEPN1 Gene
Genomic Locations for HEPN1 Gene
- chr11:124,919,244-124,920,677
- (GRCh38/hg38)
- Size:
- 1,434 bases
- Orientation:
- Plus strand
- chr11:124,789,146-124,790,573
- (GRCh37/hg19)
- Size:
- 1,428 bases
- Orientation:
- Plus strand
Genomic View for HEPN1 Gene
Genes around HEPN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q24.2 by HGNC
- 11q24.2 by Entrez Gene
- 11q24.2 by Ensembl
HEPN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HEPN1 Gene
Proteins for HEPN1 Gene
-
Protein details for HEPN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6WQI6-HEPN1_HUMAN
- Recommended name:
- Putative cancer susceptibility gene HEPN1 protein
- Protein Accession:
- Q6WQI6
Protein attributes for HEPN1 Gene
- Size:
- 88 amino acids
- Molecular mass:
- 10305 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for HEPN1 Gene
No Post-translational modifications
Other Protein References for HEPN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HEPN1
- Novus Biologicals Antibodies for HEPN1
- Invitrogen Antibodies for HEPN1 (AFLGC-HEPN1)
Protein Products
-
OriGene Purified Proteins for HEPN1
- Search Origene for MassSpec and Protein Over-expression Lysates for HEPN1
- Origene Custom Protein Services for HEPN1
- Novus Biologicals proteins for HEPN1
No data available for DME Specific Peptides for HEPN1 Gene
Domains & Families for HEPN1 Gene
Gene Families for HEPN1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for HEPN1 Gene
- ProtoNet:
Suggested Antigen Peptide Sequences for HEPN1 Gene
- GenScript: Design optimal peptide antigens:
-
- Putative cancer susceptibility gene HEPN1 protein (HEPN1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HEPN1 Gene
Function for HEPN1 Gene
Phenotypes From GWAS Catalog for HEPN1 Gene
Phenotypes for HEPN1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HEPN1 - Select products 50% OFF >
- * HEPN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HEPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HEPN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEPN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HEPN1
- Browse OriGene Inhibitory RNA Products For HEPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPN1
Clone Products
- Applied Biological Materials (abm): Clones for HEPN1 - Select products 50% OFF >
- * HEPN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HEPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HEPN1
Cell Line Products
-
Horizon Cell Lines for HEPN1
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HEPN1 Gene
Localization for HEPN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HEPN1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 0 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
Transcripts for HEPN1 Gene
mRNA/cDNA for HEPN1 Gene
- 1 REFSEQ mRNAs :
- 1 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000408930 1434 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HEPN1 - Select products 50% OFF >
- * HEPN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HEPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HEPN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HEPN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HEPN1
- Browse OriGene Inhibitory RNA Products For HEPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPN1
Clone Products
- Applied Biological Materials (abm): Clones for HEPN1 - Select products 50% OFF >
- * HEPN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HEPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HEPN1
Relevant External Links for HEPN1 Gene
- GeneLoc Exon Structure for
- HEPN1
Expression for HEPN1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEPN1
SOURCE GeneReport for Unigene cluster for HEPN1 Gene:
Hs.159863mRNA Expression by UniProt/SwissProt for HEPN1 Gene:
Q6WQI6-HEPN1_HUMAN
Tissue specificity:
Expressed in liver. Expression is either down-regulated or lost in hepatocellular carcinomas (HCC).
Evidence on tissue expression from TISSUES for HEPN1 Gene
- Nervous system(4.6)
Primer Products
-
OriGene qPCR primer pairs for HEPN1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEPN1 Gene
Orthologs for HEPN1 Gene
This gene was present in the common ancestor of human and chimp.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HEPN1 30 31 |
|
OneToOne |
- Species where no ortholog for HEPN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Cow (Bos Taurus)
- Dog (Canis familiaris)
- 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)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Mouse (Mus musculus)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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 HEPN1 Gene
- ENSEMBL:
- Gene Tree for HEPN1 (if available)
- TreeFam:
- Gene Tree for HEPN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HEPN1: view image
Paralogs for HEPN1 Gene
No data available for Paralogs for HEPN1 Gene
Variants for HEPN1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEPN1 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 877471 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,919,903(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 877472 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,114(+) | C/G | THREE_PRIME_UTR_VARIANT | |
| 878496 | Likely Benign: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,307(+) | C/A | THREE_PRIME_UTR_VARIANT | |
| 878497 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,411(+) | C/T | THREE_PRIME_UTR_VARIANT | |
| 878498 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,429(+) | G/A | THREE_PRIME_UTR_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2745189 | CNV | deletion | 23290073 |
Residual Variation Intolerance Score:
61.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.48;
10.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HEPN1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HEPN1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPN1 Gene
Disorders for HEPN1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hepatocellular carcinoma |
|
|
Search HEPN1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HEPN1
No data available for UniProtKB/Swiss-Prot and Genatlas for HEPN1 Gene
Publications for HEPN1 Gene
- HEPN1, a novel gene that is frequently down-regulated in hepatocellular carcinoma, suppresses cell growth and induces apoptosis in HepG2 cells. (PMID: 12971969) Moh MC … Shen S (Journal of hepatology 2003) 2 3 4
- Silencing of HEPN1 is responsible for the aggressive biological behavior of pituitary somatotroph adenomas. (PMID: 23548416) Peng H … Liao J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2013) 2 3
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- MicroRNA-21 promotes cell proliferation in human hepatocellular carcinoma partly by targeting HEPN1. (PMID: 25687183) Hu S … Gao Y (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015) 3
- Reactive oxygen species increase HEPN1 expression via activation of the XBP1 transcription factor. (PMID: 25448679) Kim HS … Jung G (FEBS letters 2014) 3
ExternalLinks
Products for HEPN1 Gene
- Custom Antibody ServicesOriGene Antibodies for HEPN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HEPN1
- Search Origene for MassSpec and Protein Over-expression Lysates for HEPN1
- Origene Custom Protein Services for HEPN1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HEPN1
- Browse OriGene Inhibitory RNA Products For HEPN1
- OriGene qPCR primer pairs for HEPN1
- OriGene CRISPR knockouts for HEPN1
- OriGene ORF clones in human for HEPN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HEPN1
- Sino Biological Human cDNA Clone for HEPN1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HEPN1
- Novus Biologicals proteins for HEPN1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for HEPN1 (AFLGC-HEPN1)
- VectorBuilder Custom and pre-made DNA vectors for HEPN1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HEPN1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HEPN1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HEPN1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HEPN1
- antibodies-online: Show 23 available HEPN1 Antibodies ranked by validation data
- Compare Top HEPN1 Antibodies
- antibodies-online: Search results for available HEPN1 related products ranked by validation data
- antibodies-online: Search results for available HEPN1 related products ranked by validation data
- Horizon Cell Lines for HEPN1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HEPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HEPN1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HEPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPN1
Sources for HEPN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
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- (115) NCBI Bookshelf
- (116) ClinVar
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
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- (152) DiseaseEnhancer
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- (154) Biorbyt
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- (156) Mastermind
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- (159) GeneImprint
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- (165) LNCipedia
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- (170) snOPY
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- (175) Open Targets Platform
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- (177) snoDB
- (178) MirGeneDB