This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by Re... See more...

Aliases for HRK Gene

Aliases for HRK Gene

  • Harakiri, BCL2 Interacting Protein 2 3 5
  • BH3-Interacting Domain-Containing Protein 3 3 4
  • Activator Of Apoptosis Harakiri 3 4
  • Neuronal Death Protein DP5 3 4
  • Death Protein 5 2 3
  • DP5 2 3
  • Harakiri, BCL2-Interacting Protein (Contains Only BH3 Domain) 2
  • Harakiri, BCL2 Interacting Protein (Contains Only BH3 Domain) 3
  • Activator Of Apoptosis Hrk 3
  • HARAKIRI 3
  • BID3 4
  • HRK 5

External Ids for HRK Gene

Previous GeneCards Identifiers for HRK Gene

  • GC12M116138
  • GC12M117081
  • GC12M115710
  • GC12M115761
  • GC12M117299
  • GC12M114308
  • GC12M117303

Summaries for HRK Gene

Entrez Gene Summary for HRK Gene

  • This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

GeneCards Summary for HRK Gene

HRK (Harakiri, BCL2 Interacting Protein) is a Protein Coding gene. Diseases associated with HRK include Chronic Gonococcal Salpingitis and Cycloplegia. Among its related pathways are Apoptosis Modulation and Signaling and NGF Pathway.

UniProtKB/Swiss-Prot Summary for HRK Gene

Gene Wiki entry for HRK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HRK Gene

Genomics for HRK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HRK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J116879 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.4 1354 3.8 BCLAF1 MYC ZNF600 POLR2A ZIC2 ZBTB10 CEBPB ZNF639 ZNF341 MAX HRK lnc-C12orf49-1 FBXW8 FBXO21 piR-59209 RNFT2
GH12J116862 Enhancer 0.7 ENCODE 8.1 +17.3 17338 2.5 ZNF654 JUND ZNF580 CTCF REST ZNF639 ZEB1 EGR1 ZNF362 ZNF143 HRK piR-59209 lnc-C12orf49-1 RNFT2
GH12J116802 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 3.1 +77.5 77541 3.8 NFIC FOXA1 MAFK ZNF239 ZNF121 RPL21P105 HRK SPRING1 ENSG00000275467 HSALNG0094350 RNFT2
GH12J116126 Enhancer 0.5 dbSUPER 4.8 +755.0 755021 1.3 ZNF600 CEBPA CEBPB PRDM10 HNF4A NFIL3 HLF RXRA HRK MIR620 RF00026-257 RNU6-1188P MED13L lnc-C12orf49-6
GH12J116839 Enhancer 0.4 FANTOM5 1.6 +41.7 41685 0.1 ZNF366 EGR2 ZFHX2 NOS1 RNFT2 HRK piR-38051-078 HSALNG0094350
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HRK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HRK

Top Transcription factor binding sites by QIAGEN in the HRK gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • NF-kappaB
  • NF-kappaB1
  • p53

Genomic Locations for HRK Gene

Latest Assembly
chr12:116,856,144-116,881,441
(GRCh38/hg38)
Size:
25,298 bases
Orientation:
Minus strand

Previous Assembly
chr12:117,293,949-117,319,246
(GRCh37/hg19 by Entrez Gene)
Size:
25,298 bases
Orientation:
Minus strand

chr12:117,293,949-117,319,246
(GRCh37/hg19 by Ensembl)
Size:
25,298 bases
Orientation:
Minus strand

Genomic View for HRK Gene

Genes around HRK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HRK Gene

Proteins for HRK Gene

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

    Protein Symbol:
    O00198-HRK_HUMAN
    Recommended name:
    Activator of apoptosis harakiri
    Protein Accession:
    O00198

    Protein attributes for HRK Gene

    Size:
    91 amino acids
    Molecular mass:
    9884 Da
    Quaternary structure:
    • Interacts with BCL2 and BCL2L1. Interacts with C1QBP.

    Three dimensional structures from OCA and Proteopedia for HRK Gene

neXtProt entry for HRK Gene

Post-translational modifications for HRK Gene

No Post-translational modifications

Other Protein References for HRK Gene

No data available for DME Specific Peptides for HRK Gene

Domains & Families for HRK Gene

Gene Families for HRK Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HRK Gene

Suggested Antigen Peptide Sequences for HRK Gene

GenScript: Design optimal peptide antigens:
  • Neuronal death protein DP5 (HRK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00198

UniProtKB/Swiss-Prot:

HRK_HUMAN :
  • The BH3 motif is required for the induction of cell death.
Domain:
  • The BH3 motif is required for the induction of cell death.
genes like me logo Genes that share domains with HRK: view

Function for HRK Gene

Molecular function for HRK Gene

UniProtKB/Swiss-Prot Function:
Promotes apoptosis.

Phenotypes From GWAS Catalog for HRK Gene

Gene Ontology (GO) - Molecular Function for HRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14596824
genes like me logo Genes that share ontologies with HRK: view
genes like me logo Genes that share phenotypes with HRK: view

miRNA for HRK Gene

miRTarBase miRNAs that target HRK

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HRK

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HRK Gene

Localization for HRK Gene

Subcellular locations from UniProtKB/Swiss-Prot for HRK Gene

Membrane. Single-pass membrane protein. Mitochondrion.

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 HRK gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 15031724
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HRK: view

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

Pathways & Interactions for HRK Gene

PathCards logo

SuperPathways for HRK Gene

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

Pathways by source for HRK Gene

1 KEGG pathway for HRK Gene
1 GeneGo (Thomson Reuters) pathway for HRK Gene
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
1 Qiagen pathway for HRK Gene
  • TRKA Signaling
1 GeneTex pathway for HRK Gene

SIGNOR curated interactions for HRK Gene

Inactivates:

Gene Ontology (GO) - Biological Process for HRK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0031334 positive regulation of protein complex assembly IDA 21041309
GO:0042981 regulation of apoptotic process IEA --
GO:0043065 positive regulation of apoptotic process IBA,IMP 15031724
GO:0090200 positive regulation of release of cytochrome c from mitochondria IDA 21041309
genes like me logo Genes that share ontologies with HRK: view

Drugs & Compounds for HRK Gene

(1) Drugs for HRK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HRK: view

Transcripts for HRK Gene

mRNA/cDNA for HRK Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HRK

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2: - - -

Relevant External Links for HRK Gene

GeneLoc Exon Structure for
HRK

Expression for HRK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Hippocampus (x9.5), Brain - Anterior cingulate cortex (BA24) (x7.6), Brain - Cortex (x5.8), Brain - Frontal Cortex (BA9) (x5.5), and Pituitary (x4.7).

Protein differential expression in normal tissues from HIPED for HRK Gene

This gene is overexpressed in Plasma (69.0).

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



Protein tissue co-expression partners for HRK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HRK

SOURCE GeneReport for Unigene cluster for HRK Gene:

Hs.87247

Evidence on tissue expression from TISSUES for HRK Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with HRK: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HRK Gene

Orthologs for HRK Gene

This gene was present in the common ancestor of mammals.

Orthologs for HRK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HRK 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HRK 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia HRK 29 30
  • 96.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HRK 30
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hrk 30
  • 73 (a)
OneToOne
Species where no ortholog for HRK 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)
  • 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)
  • 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 HRK Gene

ENSEMBL:
Gene Tree for HRK (if available)
TreeFam:
Gene Tree for HRK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HRK: view image
Alliance of Genome Resources:
Additional Orthologs for HRK

Paralogs for HRK Gene

No data available for Paralogs for HRK Gene

Variants for HRK Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HRK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1143710 CNV deletion 24896259
nsv826522 CNV gain 20364138
nsv832524 CNV gain 17160897
nsv898 CNV insertion 18451855

Variation tolerance for HRK Gene

Gene Damage Index Score: 0.29; 6.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HRK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HRK
Leiden Open Variation Database (LOVD)
HRK

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HRK Gene

Disorders for HRK Gene

MalaCards: The human disease database

(5) MalaCards diseases for HRK Gene - From: COP

Disorder Aliases PubMed IDs
chronic gonococcal salpingitis
  • gonococcal salpingitis
cycloplegia
  • ciliary muscle paresis
ovarian endometrial cancer
  • endometrioid neoplasm of ovary
chronic salpingitis
acute salpingitis
- elite association - COSMIC cancer census association via MalaCards
Search HRK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HRK

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HRK: view

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

Publications for HRK Gene

  1. harakiri, a novel regulator of cell death, encodes a protein that activates apoptosis and interacts selectively with survival-promoting proteins Bcl-2 and Bcl-X(L). (PMID: 9130713) Inohara N … Núñez G (The EMBO journal 1997) 2 3 4
  2. Common variants at 12q14 and 12q24 are associated with hippocampal volume. (PMID: 22504421) Bis JC … Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (Nature genetics 2012) 3 40
  3. Identification of common variants associated with human hippocampal and intracranial volumes. (PMID: 22504417) Stein JL … Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium (Nature genetics 2012) 3 40
  4. Intrinsic order and disorder in the bcl-2 member harakiri: insights into its proapoptotic activity. (PMID: 21731739) Barrera-Vilarmau S … de Alba E (PloS one 2011) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for HRK Gene

Sources for HRK Gene