HEATR2 Gene
protein-coding GIFtS: 48
GCID: GC07P000732
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|
HEAT repeat containing 2
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Aliases for HEATR2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| HEAT Repeat Containing 21 2 | | FLJ316711 | | CILD181 2 | | FLJ393811 | | FLJ203971 | | HEAT Repeat-Containing Protein 22 | | FLJ255641 | | |
Export aliases for HEATR2 gene to outside databases |
Summaries for HEATR2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for HEATR2: The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is foundonly in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliarydyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variantshave been found for this gene. (provided by RefSeq, Feb 2013)
|
Genomic Views for HEATR2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HEATR2 gene promoter: Pax-5 Egr-1 HSF1 (long) Egr-4 Arnt CREB deltaCREB HSF1short ARP-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for HEATR2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEATR2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7p22.3 Ensembl cytogenetic band: 7p22.3 HGNC cytogenetic band: 7p22.3HEATR2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P000732: view genomic region
(about GC identifiers)
Start:
|
766,338 bp from pter |
End:
|
829,190 bp from pter |
Size:
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62,853 bases |
Orientation:
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plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 827,519-884,476 |
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Proteins for HEATR2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: HEAT2_HUMAN, Q86Y56 (See
protein sequence)Recommended Name: HEAT repeat-containing protein 2 Size: 855 amino acids; 93521 Da
Subcellular location: Cytoplasm. Note=Observed only in the cytoplasm of ciliated airway epithelial cells. Absent fromcilia
Sequence caution: Sequence=AAH10850.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q69YL1 Q96FI9 Q9NX75Alternative splicing: 3 isoforms: Q86Y56-1 Q86Y56-2 Q86Y56-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for HEATR2: NX_Q86Y56
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q86Y56 HEATR2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060272.3 ENSEMBL proteins: ENSP00000297440 ENSP00000410788 ENSP00000403165 ENSP00000384884 ENSP00000321451 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IEA | -- |
HEATR2 for ontologies About GeneDecksing
HEATR2 Antibody Products: Assay Products for HEATR2: |
Protein
Domains / Families for HEATR2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HEATR2 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q86Y56ProtoNet protein and cluster: Q86Y56 1 Blocks protein family: IPB000357 HEAT repeat
UniProtKB/Swiss-Prot: HEAT2_HUMAN, Q86Y56Similarity: Contains 10 HEAT repeats |
Function for HEATR2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEATR2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEATR2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HEATR2 (NM_017802) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEATR2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEATR2  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEATR2 |
4 GenomeRNAi human phenotypes for HEATR2:
|
Pathways & Interactions for HEATR2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HEATR2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
 5/22 Interacting proteins for HEATR2 (Q86Y562, 3 ENSP000002974404) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
|
Drugs & Compounds for HEATR2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for HEATR2 Search CenterWatch for drugs/clinical trials and news about HEATR2 / HEAT2 
|
Transcripts for HEATR2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for HEATR2 gene: NM_017802.3 Unigene Cluster for HEATR2: HEAT repeat containing 2 Hs.535896 [show with all ESTs]Unigene Representative Sequence: AK1254799 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000297440(uc010krz.1 uc003siz.2 uc003sjb.2) ENST00000437419 ENST00000438961 ENST00000440747 ENST00000491496(uc003sja.3) ENST00000403952(uc003sjc.2) ENST00000486546 ENST00000461576 ENST00000313147
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HEATR2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HEATR2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HEATR2 (NM_017802) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEATR2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEATR2  |
Additional cDNA sequence: AK000404.1 AK054595.1 AK056233.1 AK096700.1 AK098430.1 AK125479.1 AK127690.1 AK225507.1 AL832914.1 BC010850.1 BC047240.1 BC094840.1 17 DOTS entries: DT.320263 DT.100644345 DT.100785152 DT.97796293 DT.441345 DT.100785149 DT.92424447 DT.100785153 DT.101960785 DT.97822201 DT.92042007 DT.95171644 DT.97854140 DT.100804218 DT.95171647 DT.40267483 DT.97844926 24/115 AceView cDNA sequences (see all 115): BM756077 BM702962 BI762953 CB215545 BM703013 CA392586 AI361872 BM714707 AA053037 BM721750 BF793636 BU194106 BM721726 CA424295 CD245719 R99542 AK098430 BQ272448 BQ882338 BE890321 BF037220 BG180585 AA323904 BE313023 GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HEATR2 (see all 11) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   |
| ExUns: | 17a | · | 17b | |
| SP1: | |   | |   | |
| SP2: | |   | |   | |
| SP3: | |   | |   | |
| SP4: | |   | |   | |
| SP5: | |   | |   |
ECgene alternative splicing isoforms for HEATR2
|
Expression for HEATR2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HEATR2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTTGAAAATT
About this image See HEATR2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HEATR2
SOURCE GeneReport for Unigene cluster: Hs.535896 SABiosciences Custom PCR Arrays for HEATR2
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HEATR2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HEATR2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEATR2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEATR2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEATR2 |
Orthologs for HEATR2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for HEATR2 gene from 6/20 species (see all 20) About this table
ENSEMBL Gene Tree for HEATR2 (if available) TreeFam Gene Tree for HEATR2 (if available)  |
Paralogs for HEATR2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for HEATR2 gene
HEATR2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for HEATR2 PGOHUM00000245552
|
Genomic Variants for HEATR2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 7 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for HEATR2 (766338 - 829190 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for HEATR2 4 Indels: 41561 28687 99837 47392 Human Gene Mutation Database (HGMD): HEATR2
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEATR2 |
|
Disorders
/ Diseases for HEATR2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HEATR2 for disorders About MalaCards
HEATR2 for disorders About GeneDecksing
OMIM gene information: 614864
OMIM disorders: --
UniProtKB/Swiss-Prot: HEAT2_HUMAN, Q86Y56
Defects in HEATR2 are the cause of primary ciliary dyskinesia 18 (CILD18) [MIM:614874]. A disordercharacterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation andbronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in malepatients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetryand situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated withsitus inversus is referred to as Kartagener syndrome 1 disease from the University of Copenhagen DISEASES database for HEATR2:Primary ciliary dyskinesia Export disorders for HEATR2 gene to outside databases
|
Publications for HEATR2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HEATR2 gene, integrated from 9 sources (see all 21): (articles sorted by number of sources associating them with HEATR2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (PubMed id 23040496)1, 2, 3 Horani A.... Ferkol T.W. (2012)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
|
External Searches for HEATR2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HEATR2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HEATR2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HEATR2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for HEATR2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for HEATR2 gene: Search GeneIP for patents involving HEATR2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for HEATR2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HEATR2 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEATR2 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEATR2 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HEATR2 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HEATR2 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HEATR2 |
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 | | HEATR2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEATR2 |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HEATR2 |
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