FAM134B Gene
protein-coding GIFtS : 47
GCID: GC05 M016473
family with sequence similarity 134, member B
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Aliasesfor FAM134B gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Family With Sequence Similarity 134, Member B 1 2 FLJ201521 JK-12 JK12 Protein FAM134B2 HSAN2B5
Export aliases for FAM134B gene to outside databases Previous GC identifer: GC05M016527
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Summariesfor FAM134B 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 FAM134B : The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Nov 2011) UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5 Function : Required for long-term survival of nociceptive and autonomic ganglion neurons
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Genomic Viewsfor FAM134B 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_000005.9 NC_018916.1 NT_006576.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the FAM134B gene promoter: USF1 MyoD HNF-1A CREB POU2F1 HNF-1 USF-1 POU2F1a RSRFC4 Ik-1 Other transcription factors Search SABiosciences Chromatin IP Primers for FAM134B Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM134B
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 5p15.1 Ensembl cytogenetic band: 5p15.1 HGNC cytogenetic band: 5p15.1 FAM134B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05M016473: view genomic region
(about GC identifiers )
Start:
16,473,147 bp from pter
End:
16,617,167 bp from pter
Size:
144,021 bases
Orientation:
minus strand
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Proteinsfor FAM134B gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: F134B_HUMAN, Q9H6L5 (See
protein sequence )Recommended Name: Protein FAM134B Size : 497 amino acids; 54681 Da
Subcellular location : Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein (By similarity)
Sequence caution : Sequence=AAH30517.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA90982.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15252.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions : Q69YN8 Q9H6K6 Q9H764 Q9NXM8Alternative splicing : 2 isoforms : Q9H6L5-1 Q9H6L5-2 Explore the universe of human proteins at neXtProt for FAM134B: NX_Q9H6L5 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9H6L5 FAM134B Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_001030022.1 NP_061873.2 ENSEMBL proteins: ENSP00000425089 ENSP00000382691 ENSP00000304642 Human Recombinant Protein Products: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
FAM134B for ontologies About GeneDecksing FAM134B Antibody Products: Assay Products for FAM134B:
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Protein
Domains / Familiesfor FAM134B gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
FAM134B for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q9H6L5 ProtoNet protein and cluster: Q9H6L5
UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5 Similarity : Belongs to the FAM134 family
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Functionfor FAM134B gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 Function Summary: UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5 Function : Required for long-term survival of nociceptive and autonomic ganglion neurons
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 FAM134B (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FAM134B (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): FAM134B (NM_001034850 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM134B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FAM134B
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B
1 GenomeRNAi human phenotype for FAM134B :
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Pathways & Interactionsfor FAM134B 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 FAM134B Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
FAM134B for ontologies About GeneDecksing
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Drugs & Compoundsfor FAM134B 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 FAM134B Search CenterWatch for drugs/clinical trials and news about FAM134B / F134B
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Transcriptsfor FAM134B 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 FAM134B gene (2 alternative transcripts): NM_001034850.2 NM_019000.4 Unigene Cluster for FAM134B:
Family with sequence similarity 134, member B Hs.744032 [show with all ESTs ] Unigene Representative Sequence: NM_001034850 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000510362 ENST00000399793 (uc003jfr.3 ) ENST00000306320 (uc003jfs.3 )ENST00000509977 ENST00000506441 ENST00000509048 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FAM134B (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FAM134B (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): FAM134B (NM_001034850 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAM134B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FAM134B
Additional cDNA sequence: AK000159.1 AK024920.1 AK025808.1 AK025832.1 AK225371.1 AL832438.1 BC020603.1 BC030517.1 BC053326.1 BC073132.1
5 DOTS entries : DT.443389 DT.92432097
DT.120877667 DT.85101065 DT.97804173 24/217 AceView cDNA sequences (see all 217 ):
AA232734 AA745721 AA773610 AW304670 CK822590 AI241362 BM505308 BE463401 AI522110 AL832438 BQ184223 AK024920 BU737867 BM929418 BU679367 NM_019000 BI467258 AV652599 AI816890 BU071262 AW960770 BQ018065 BC053326 AI470875 GeneLoc Exon Structure
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Expression for FAM134B 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 FAM134B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: ACTGTGTTTG
About this image FAM134B expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See FAM134B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for FAM134B SOURCE GeneReport for Unigene cluster: Hs.744032 SABiosciences Custom PCR Arrays for FAM134B Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for FAM134BBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat FAM134B QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat FAM134B QIAGEN QuantiFast Probe-based Assays in human , mouse , rat FAM134B In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B
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Orthologsfor FAM134B gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for FAM134B gene from 4/11 species (see all 11 ) About this table
ENSEMBL Gene Tree for FAM134B (if available)TreeFam Gene Tree for FAM134B (if available)
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Paralogsfor FAM134B gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for FAM134B gene FAM134C 2 FAM134A 2 1 SIMAP similar gene for FAM134B using alignment to 2 protein entries: F134B_HUMAN (see all proteins ):FAM134C
FAM134B for paralogs About GeneDecksing
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Genomic Variantsfor FAM134B gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 5 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for FAM134B (16473147 - 16617167 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for FAM134B 1 Indel : 46802 Human Gene Mutation Database (HGMD) : FAM134B SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing FAM134B
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Disorders
/ Diseasesfor FAM134B 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
FAM134B for disorders About GeneDecksing OMIM gene information: 613114 OMIM disorders : 613115 UniProtKB/Swiss-Prot: F134B_HUMAN, Q9H6L5
Defects in FAM134B are the cause of hereditary sensory and autonomic neuropathy type 2B (HSAN2B) [MIM:613115]. A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response 14 diseases for FAM134B : About MalaCards autonomic neuropathy vascular dementia hereditary sensory and autonomic neuropathy type iib hereditary sensory and autonomic neuropathy type ii neuropathy dementia hereditary sensory neuropathy autonomic dysfunction esophageal squamous cell carcinoma squamous cell carcinoma neuronitis osteomyelitis esophagitis carcinoma Human Genome Epidemiology (HuGE) Navigator: FAM134B (1 document)Export disorders for FAM134B gene to outside databases
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Publicationsfor FAM134B gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for FAM134B gene, integrated from 9 sources (see all 15 ): (articles sorted by number of sources associating them with FAM134B) Utopia : connect your pdf to the dynamic world of online information
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. (PubMed id 19838196) 1 , 2 , 3 Kurth I.... Huebner C.A. (2009) Mutation in FAM134B causing severe hereditary sensory neuropathy. (PubMed id 21115472) 1 Murphy S.M....Reilly M.M. (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. (PubMed id 22302274) 2 Davidson G.L.... Reilly M.M. (2012) Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049) 1 OlA!h J....OvA!di J. (2011) A strong synergistic epistasis between FAM134B and TN FRSF19 on the susceptibility to vascular dementia. (PubMed id 21127458) 1 Kong M....Lee C. (2011) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Oncogenic properties of a novel gene JK-1 located in chromosome 5p and its overexpression in human esophageal squamous cell carcinoma. (PubMed id 17487424) 1 Tang W.K....Tang J.C. (2007) hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965) 1 Lamesch P.... Vidal M. (2007) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (2007) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006)
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External Searches for FAM134B gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing FAM134B gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing FAM134B gene
(According to HUGE )
About This Section --
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Specialized Databases showing FAM134B 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 FAM134B Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for FAM134B gene: Search GeneIP for patents involving FAM134B GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor FAM134B 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
Browse OriGene Antibodies OriGene shRNA RFP for FAM134B OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for FAM134B OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for FAM134B OriGene Protein Over-expression Lysate for FAM134B Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for FAM134B OriGene 3'-UTR Clone for FAM134B OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FAM134B OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FAM134B 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 OriGene Purified Protein for FAM134B OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for FAM134B OriGene Custom Protein Services for FAM134B OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAM134B QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing FAM134B QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM134B QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat FAM134B QIAGEN QuantiFast Probe-based Assays in human , mouse , rat FAM134B QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat FAM134B
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FAM134B Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM134B
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FAM134B
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Aliases for FAM134B
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Disorders / Diseases for FAM134B
Domains / Families for FAM134B
Drugs / Compounds for FAM134B
Expression for FAM134B
Function for FAM134B
Genomic Views for FAM134B
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Pathways / Interactions for FAM134B
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Transcripts for FAM134B
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