FAM189B Gene
protein-coding GIFtS: 44
GCID: GC01M155216
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|
family with sequence similarity 189, member B(Previous name: chromosome 1 open reading frame 2 ) (Previous symbol: C1orf2)
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Aliases for FAM189B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Family With Sequence Similarity 189, Member B1 2 | | Cote11 | | C1orf21 2 3 | | Protein FAM189B2 | | COTE12 3 | | Protein COTE13 | | Chromosome 1 Open Reading Frame 21 | | |
Export aliases for FAM189B gene to outside databasesPrevious GC identifers: GC01M153484 GC01M126579 |
Summaries for FAM189B 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 FAM189B: This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme isassociated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WWdomain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results inmultiple transcript variants. (provided by RefSeq, Dec 2010)
|
Genomic Views for FAM189B 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_000001.10 NC_018912.1 NT_004487.19
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for FAM189B Other transcription factors
Search SABiosciences Chromatin IP Primers for FAM189B
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM189B |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q22 HGNC cytogenetic band: 1q21FAM189B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M155216: view genomic region
(about GC identifiers)
Start:
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155,216,996 bp from pter |
End:
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155,225,274 bp from pter |
Size:
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8,279 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr1-,PATCHES 155,232,386-155,240,664 |
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Proteins for FAM189B 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: F189B_HUMAN, P81408 (See
protein sequence)Recommended Name: Protein FAM189B Size: 668 amino acids; 71355 Da
Subunit: May interact with WWOX
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q8IXL3 Q9BR66Alternative splicing: 2 isoforms: P81408-1 P81408-2 Explore the universe of human proteins at neXtProt for FAM189B: NX_P81408
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P81408 FAM189B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001254537.1 NP_006580.2 NP_937995.1 ENSEMBL proteins: ENSP00000307128 ENSP00000357352 ENSP00000354958 ENSP00000427520 ENSP00000427011 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:0016021 | integral to membrane |
NAS | -- |
FAM189B for ontologies About GeneDecksing
FAM189B Antibody Products: Assay Products for FAM189B: |
Protein
Domains / Families for FAM189B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FAM189B for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P81408ProtoNet protein and cluster: P81408 UniProtKB/Swiss-Prot: F189B_HUMAN, P81408Similarity: Belongs to the FAM189 family |
Function for FAM189B 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 FAM189B (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM189B (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): FAM189B (NM_198264) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM189B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189B  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189B |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
FAM189B for ontologies About GeneDecksing
|
Pathways & Interactions for FAM189B 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 FAM189B
3 Interacting proteins for FAM189B (P814081, 3) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
FAM189B for ontologies About GeneDecksing
|
Drugs & Compounds for FAM189B 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 FAM189B Search CenterWatch for drugs/clinical trials and news about FAM189B / F189B 
|
Transcripts for FAM189B 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 FAM189B gene (3 alternative transcripts): NM_001267608.1 NM_006589.2 NM_198264.1 Unigene Cluster for FAM189B: Family with sequence similarity 189, member B Hs.348308 [show with all ESTs]Unigene Representative Sequence: NM_0065899 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000350210(uc009wql.3) ENST00000368366 ENST00000368368 ENST00000361361(uc001fjm.3 uc001fjn.3 uc001fjo.3 uc001fjp.3) ENST00000487649 ENST00000491082 ENST00000497941 ENST00000472550 ENST00000481822(uc001fjq.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM189B (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM189B (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): FAM189B (NM_198264) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM189B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189B  |
Additional cDNA sequence: AF070550.1 BC006297.1 BC006493.2 BC007444.2 BC008854.2 BC010471.1 BC017262.2 BC033707.1 BC040136.1 14 DOTS entries: DT.100811718 DT.415458 DT.100811721 DT.91742385 DT.100754265 DT.91910649 DT.121439076 DT.91946107 DT.100739718 DT.121439094 DT.92020817 DT.97805151 DT.99965722 DT.100754264 24/369 AceView cDNA sequences (see all 369): BU189990 CR623321 BE514752 BF347349 AI379352 BC006493 BM826338 CD742665 BI859975 BQ012591 BC053603 AA653537 BG254314 BM555300 AK093335 BQ056653 BU186667 BM458698 AX746743 AI222824 BM696021 BQ652951 AA757530 BM987374 GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for FAM189B (see all 11) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for FAM189B
|
Expression for FAM189B 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
| FAM189B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACCTTGGGCA
About this image See FAM189B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for FAM189B
SOURCE GeneReport for Unigene cluster: Hs.348308 UniProtKB/Swiss-Prot: F189B_HUMAN, P81408Tissue specificity: Widely expressed SABiosciences Custom PCR Arrays for FAM189B
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM189B Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAM189B | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM189B | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM189B | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189B |
Orthologs for FAM189B 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
|
--
ENSEMBL Gene Tree for FAM189B (if available) TreeFam Gene Tree for FAM189B (if available)  |
Paralogs for FAM189B gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for FAM189B gene
- FAM189A12 FAM189A22
1 SIMAP similar gene for FAM189B using alignment to 4 protein entries: F189B_HUMAN (see all proteins):FAM189A1
FAM189B for paralogs About GeneDecksing
|
Genomic Variants for FAM189B 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 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for FAM189B (155216996 - 155225274 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for FAM189B 4 CNVs: 65018 3315 4257 6789  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM189B |
|
Disorders
/ Diseases for FAM189B 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
|
FAM189B for disorders About GeneDecksing
1 disease for FAM189B: About MalaCardsgaucher's disease Human Genome Epidemiology (HuGE) Navigator: FAM189B (3 documents) Export disorders for FAM189B gene to outside databases
|
Publications for FAM189B 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 FAM189B gene, integrated from 9 sources (see all 12): (articles sorted by number of sources associating them with FAM189B) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1, 2, 3 Winfield S.L.... Sidransky E. (1997)
- WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. (PubMed id 15064722)1, 2 Ludes-Meyers J.H....Aldaz C.M. (2004)
- 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)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- SREBP-1 regulates the expression of heme oxygenase 1 and the phosphatidylinositol-3 kinase regulatory subunit p55 gamma. (PubMed id 17452746)1 Kallin A....Demoulin J.B. (2007)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for FAM189B gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FAM189B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FAM189B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FAM189B 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 FAM189B | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for FAM189B gene: Search GeneIP for patents involving FAM189B
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for FAM189B 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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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for FAM189B | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM189B | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAM189B | | OriGene Protein Over-expression Lysate for FAM189B | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for FAM189B | | OriGene 3'-UTR Clone for FAM189B | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM189B | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM189B | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for FAM189B | | OriGene Custom Protein Services for FAM189B | | OriGene Custom Immunoassay Development | | |
| |  |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAM189B | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM189B | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM189B | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM189B | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM189B | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM189B |
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| | | Search Tocris compounds for FAM189B |
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 | | FAM189B Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189B |
|  |  |  | | | Search ThermoFisher Antibodies for FAM189B |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189B |
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