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RSPH9 Gene

protein-coding   GIFtS: 47
GCID: GC06P043612

Radial Spoke Head 9 Homolog (Chlamydomonas)

(Previous names: mitochondrial ribosomal protein S18A-like 1, chromosome...)
(Previous symbols: MRPS18AL1, C6orf206)
  See RSPH9-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Radial Spoke Head 9 Homolog (Chlamydomonas)1 2     Chromosome 6 Open Reading Frame 2061
C6orf2061 2 3     Mitochondrial Ribosomal Protein S18A-Like 11
MRPS18AL11 2 3     Radial Spoke Head Protein 9 Homolog2
CILD122 5     

External Ids:    HGNC: 210571   Entrez Gene: 2214212   Ensembl: ENSG000001724267   OMIM: 6126485   UniProtKB: Q9H1X13   

Export aliases for RSPH9 gene to outside databases

Previous GC identifers: GC06P043721 GC06P043722 GC06P043336


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RSPH9 Gene:
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella.
Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in
multiple transcript variants.(provided by RefSeq, Jul 2010)

GeneCards Summary for RSPH9 Gene:
RSPH9 (radial spoke head 9 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with RSPH9 include primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia, and ciliary dyskinesia, primary, 12.

UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
Function: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia,
sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet
microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from
the central pair of microtubules

Gene Wiki entry for RSPH9 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RSPH9 gene promoter:
         STAT1   NRSF form 1   STAT1beta   NRSF form 2   E47   STAT1alpha   NRF-2   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RSPH9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RSPH9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

RSPH9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSPH9 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043612:  view genomic region     (about GC identifiers)

Start:
43,612,767 bp from pter      End:
43,640,336 bp from pter
Size:
27,570 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1 (See protein sequence)
Recommended Name: Radial spoke head protein 9 homolog  
Size: 276 amino acids; 31292 Da
Secondary accessions: A8K5T4 Q96NH9
Alternative splicing: 2 isoforms:  Q9H1X1-1   Q9H1X1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RSPH9: NX_Q9H1X1

Explore proteomics data for RSPH9 at MOPED


See RSPH9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001180270.1  NP_689945.2  

ENSEMBL proteins: 
 ENSP00000361238   ENSP00000361236  

RSPH9 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR006802 Radial_spoke

Graphical View of Domain Structure for InterPro Entry Q9H1X1

ProtoNet protein and cluster: Q9H1X1

UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
Similarity: Belongs to the flagellar radial spoke RSP9 family


Find genes that share domains with RSPH9           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: RSPH9_HUMAN, Q9H1X1
Function: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia,
sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet
microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from
the central pair of microtubules

Animal Models:

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miRNA
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hsa-mir-335-5p (MIRT017711)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
RSPH9_HUMAN, Q9H1X1: Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytoskeleton3
cytosol2
nucleus2
peroxisome1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005856cytoskeleton IEA--
GO:0005930axoneme IC19200523
GO:0031514motile cilium IC19200523

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RSPH9
Interactions:

    Search GeneGlobe Interaction Network for RSPH9

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003341cilium movement IMP19200523
GO:0035082axoneme assembly IMP19200523

Find genes that share ontologies with RSPH9           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RSPH9



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for RSPH9 gene (2 alternative transcripts): 
NM_001193341.1  NM_152732.4  

Unigene Cluster for RSPH9:

Radial spoke head 9 homolog (Chlamydomonas)
Hs.534585  [show with all ESTs]
Unigene Representative Sequence: NM_001193341
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000372165(uc003ovx.2) ENST00000372163(uc003ovw.2)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat RSPH9

Additional mRNA sequence: BC029519.1 

5 DOTS entries:

DT.211910  DT.100771045  DT.121368278  DT.95127327  DT.95159086 

Selected AceView cDNA sequences (see all 56):

BM682820 AI190974 CK300132 AI424995 CK300595 CR591492 AI220270 AK055407 
BM675678 BQ187076 BM719502 BU171360 BQ185058 BX282751 BI826340 BF439409 
BQ680488 NM_152732 CB306755 BX357148 BG059893 BU196545 BM693621 BI868674 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for RSPH9    About this scheme

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5
SP1:                          -                                 
SP2:                    -     -                                 
SP3:                          -     -                           
SP4:                                                            


ECgene alternative splicing isoforms for RSPH9

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RSPH9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATTTTCTTAA
RSPH9 Expression
About this image


RSPH9 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Brain (Nervous System)
         Choroid Plexus
 
 Testis (Reproductive System)
RSPH9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RSPH9 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.534585
    Custom PCR Arrays for RSPH9
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for RSPH9 gene from Selected species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rsph91 , 5 radial spoke head 9 homolog (Chlamydomonas)1, 5 88.41(n)1
91.67(a)1
  17 (22.87 cM)5
755641  NM_029338.31  NP_083614.11 
 461220355 
chicken
(Gallus gallus)
Aves RSPH91 radial spoke head 9 homolog (Chlamydomonas) 68.35(n)
66.54(a)
  421446  NM_001277604.1  NP_001264533.1 
lizard
(Anolis carolinensis)
Reptilia RSPH96
radial spoke head 9 homolog (Chlamydomonas)
51(a)
1 ↔ 1
GL343854.1(79816-112800)
African clawed frog
(Xenopus laevis)
Amphibia Xl.153842 Xenopus laevis transcribed sequences 72.28(n)    BJ039543.1 
zebrafish
(Danio rerio)
Actinopterygii rsph91 radial spoke head 9 homolog 57.13(n)
54.71(a)
  558005  NM_001030113.1  NP_001025284.1 
fruit fly
(Drosophila melanogaster)
Insecta CG318031 CG31803 46.59(n)
34.75(a)
  318950  NM_165215.1  NP_724049.1 


ENSEMBL Gene Tree for RSPH9 (if available)
TreeFam Gene Tree for RSPH9 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RSPH9 (see all 648)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1439243841,2
--43521544(+) TCGATC/TTTTAA 2 -- us2k10--------
rs94720961,2
C,F,A,H--43521625(+) CTTTGT/GAGGCA 2 -- us2k19Minor allele frequency- G:0.23NA WA CSA EA 369
rs126604731,2
C,F,H--43521694(+) TGACTG/ATTTTT 2 -- us2k115Minor allele frequency- A:0.09NS EA WA NA 2336
rs168966141,2
C,F,H--43521816(+) TAAATT/CGTTTT 2 -- us2k1 tfbs313Minor allele frequency- C:0.08NA NS EA CSA WA 1434
rs1472358611,2
--43521837(+) ATTAAA/GCCAAA 2 -- us2k10--------
rs1407473391,2
--43521876(+) ATTTAG/TTTAGT 2 -- us2k10--------
rs1123705191,2
F--43521880(+) ATTTAG/TTTAGT 2 -- us2k11Minor allele frequency- T:0.50CSA 2
rs1441894041,2
C--43522004(+) CCTCCA/CGAGTA 2 -- us2k10--------
rs1131720001,2
C,F--43522181(+) AGGTGG/AGTGGA 2 -- us2k13Minor allele frequency- A:0.50CSA 6
rs1126728101,2
C,F--43522204(+) GGAGTT/GCAACA 2 -- us2k13Minor allele frequency- G:0.07CSA WA 122

HapMap Linkage Disequilibrium report for RSPH9 (43612767 - 43640336 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for RSPH9:    About this table    
Variant IDTypeSubtypePubMed ID
nsv5281CNV Loss18451855

Human Gene Mutation Database (HGMD): RSPH9
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing RSPH9
DNA2.0 Custom Variant and Variant Library Synthesis for RSPH9

(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.)
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OMIM gene information: 612648   
OMIM disorders: 612650  
UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
  • Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: A disorder characterized by abnormalities of
    motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to
    defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of
    sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node
    and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is
    referred to as Kartagener syndrome. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 5 diseases for RSPH9:    
    About MalaCards
    primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia    ciliary dyskinesia, primary, 12    primary ciliary dyskinesia    dextrocardia
    ciliary dyskinesia, primary, 19

    3 diseases from the University of Copenhagen DISEASES database for RSPH9:
    Primary ciliary dyskinesia     Dextrocardia     Situs inversus

    Find genes that share disorders with RSPH9           About GenesLikeMe

    GeneTests: RSPH9
    GeneReviews: RSPH9

    Export disorders for RSPH9 gene to outside databases

    (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)
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    PubMed articles for RSPH9 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RSPH9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (PubMed id 19200523)1, 2, 3 Castleman V.H.... Mitchison H.M. (Am. J. Hum. Genet. 2009)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    6. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. (PubMed id 22448264)1 ZiA9tkiewicz E....Witt M. (PLoS ONE 2012)
    7. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. (PubMed id 20070851)1 Reish O....Mitchison H.M. (Ann. Hum. Genet. 2010)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Primary Ciliary Dyskinesia (PubMed id 20301301)1 Pagon R.A....Stephens K. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 221421 HGNC: 21057 AceView: C6orf206 Ensembl:ENSG00000172426 euGenes: HUgn221421
    ECgene: RSPH9 H-InvDB: RSPH9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RSPH9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RSPH9 gene:
    Search GeneIP for patents involving RSPH9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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