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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CNIH3 Gene

protein-coding   GIFtS: 43
GCID: GC01P224622

Cornichon Family AMPA Receptor Auxiliary Protein 3

(Previous name: cornichon homolog 3 (Drosophila))
  Search for CNIH3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cornichon Family AMPA Receptor Auxiliary Protein 31 2
Cornichon Homolog 3 (Drosophila)1
CNIH-32
Cornichon Homolog 32
Protein Cornichon Homolog 32

External Ids:    HGNC: 268021   Entrez Gene: 1491112   Ensembl: ENSG000001437867   UniProtKB: Q8TBE13   

Export aliases for CNIH3 gene to outside databases

Previous GC identifers: GC01P221111 GC01P222870 GC01P195324


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CNIH3 Gene: 
CNIH3 (cornichon family AMPA receptor auxiliary protein 3) is a protein-coding gene. GO annotations related to this gene include channel regulator activity. An important paralog of this gene is CNIH1.

UniProtKB/Swiss-Prot: CNIH3_HUMAN, Q8TBE1
Function: Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes
their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates
of activation, deactivation and desensitization




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNIH3 gene promoter:
         NF-AT   NF-AT4   NF-AT2   HSF2   FOXO4   FOXJ2 (long isoform)   NF-AT3   FOXJ2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNIH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CNIH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNIH3


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

Entrez Gene cytogenetic band: 1q42.12   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q42.12

CNIH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNIH3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P224622:  view genomic region     (about GC identifiers)

Start:
224,622,362 bp from pter      End:
224,928,251 bp from pter
Size:
305,890 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CNIH3_HUMAN, Q8TBE1 (See protein sequence)
Recommended Name: Protein cornichon homolog 3  
Size: 160 amino acids; 18976 Da
Subunit: Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with
GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity)
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (By
similarity). Note=Also localizes to the cell membrane of extrasynaptic sites (dendritic shafts, spines of
pyramidal cells) (By similarity)

Explore the universe of human proteins at neXtProt for CNIH3: NX_Q8TBE1

Explore proteomics data for CNIH3 at MOPED 

CNIH3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CNIH3 Protein Expression

REFSEQ proteins: NP_689708.1  
ENSEMBL proteins: 
 ENSP00000272133  

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Cloud-Clone Corp. Proteins for CNIH3 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016020membrane ----
GO:0030054cell junction IEA--
GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex ISS--
GO:0043198dendritic shaft ISS--
GO:0045211postsynaptic membrane ISS--

CNIH3 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR003377 Cornichon

Graphical View of Domain Structure for InterPro Entry Q8TBE1

ProtoNet protein and cluster: Q8TBE1

1 Blocks protein domain: IPB003377 Cornichon

UniProtKB/Swiss-Prot: CNIH3_HUMAN, Q8TBE1
Similarity: Belongs to the cornichon family


CNIH3 for domains           About GeneDecksing


(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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: CNIH3_HUMAN, Q8TBE1
Function: Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes
their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates
of activation, deactivation and desensitization

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016247channel regulator activity IEA--
     
CNIH3 for ontologies           About GeneDecksing


Animal Models:
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miRNA
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SwitchGear 3'UTR luciferase reporter plasmidCNIH3 3' UTR sequence
Inhib. RNA
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CNIH3

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/24 Interacting proteins for CNIH3 (ENSP000002721334) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
InteractantInteraction Details
GeneCardExternal ID(s)
CACNG2ENSP000003001054STRING: ENSP00000300105
CACNG3ENSP000000052844STRING: ENSP00000005284
CACNG4ENSP000002621384STRING: ENSP00000262138
CACNG5ENSP000001695654STRING: ENSP00000169565
CACNG7ENSP000002222124STRING: ENSP00000222212
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0035249synaptic transmission, glutamatergic IEA--
GO:0035556intracellular signal transduction IEA--
GO:0042391regulation of membrane potential IEA--
GO:2000311regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity IDA--

CNIH3 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CNIH3

Search CenterWatch for drugs/clinical trials and news about CNIH3

(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,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CNIH3 gene: 
NM_152495.1  

Unigene Cluster for CNIH3:

Cornichon homolog 3 (Drosophila)
Hs.731723  [show with all ESTs]
Unigene Representative Sequence: AK096312
14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000471578 ENST00000483512 ENST00000498126 ENST00000496372 ENST00000470602
ENST00000498382 ENST00000478120 ENST00000481095 ENST00000470788 ENST00000489556
ENST00000496277 ENST00000492470 ENST00000479227 ENST00000272133(uc001hos.1)

miRNA
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hsa-miR-21* hsa-miR-4289 hsa-miR-1226 hsa-miR-513a-5p hsa-miR-2110 hsa-miR-4312 hsa-miR-15a hsa-miR-497
SwitchGear 3'UTR luciferase reporter plasmidCNIH3 3' UTR sequence
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNIH3

Additional mRNA sequence: 

AF070524.1 AK096312.1 BC022780.1 

10 DOTS entries:

DT.75143927  DT.121397937  DT.121397909  DT.121397907  DT.100768140  DT.99993103  DT.121397886  DT.91722717 
DT.40284695  DT.75193446 

24/80 AceView cDNA sequences (see all 80):

BM509970 CR595048 CR625980 CB141048 BF593434 AK096312 BM972532 BU947589 
AF070524 CK822707 AL121016 NM_152495 BG767485 BF124920 Z40078 BQ216528 
BG766095 BM471460 BG431100 BF315626 BU947851 BU171778 BF057116 BM503825 

GeneLoc Exon Structure


(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

CNIH3 expression in normal human tissues (normalized intensities)      CNIH3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATCAAGGTGT
CNIH3 Expression
About this image


CNIH3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/9 selected tissues (see all 9) fully expand
 
 Brain (Nervous System)    fully expand to see all 5 entries
         Cerebral Cortex
         brain/midbrain   
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Telencephalon
 
 Smooth Muscle (Extraembryonic Tissues)
         Human umbilical Smooth Muscle (HUSM)   
 
 Gut Tube (Gastrointestinal Tract)
         Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
 
 Fibroblast (Uncategorized)
         Human Villous Mesenchymal Fibroblasts (HVMF)   

See CNIH3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CNIH3

SOURCE GeneReport for Unigene cluster: Hs.731723
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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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNIH3 gene from 7/14 species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cnih31 , 5 cornichon homolog 3 (Drosophila)1, 5 91.04(n)1
100(a)1
  1 (84.53 cM)5
729781  NM_001160211.11  NP_001153683.11 
 1813526285 
chicken
(Gallus gallus)
Aves CNIH31 cornichon homolog 3 (Drosophila) 84.58(n)
98.12(a)
  421323  XM_419388.3  XP_419388.3 
lizard
(Anolis carolinensis)
Reptilia CNIH36
Uncharacterized protein
94(a)
1 ↔ 1
1(252498412-252600451)
zebrafish
(Danio rerio)
Actinopterygii cnih31 cornichon homolog 3 (Drosophila) 77(n)
82.28(a)
  564015  XM_687375.3  XP_692467.3 
fruit fly
(Drosophila melanogaster)
Insecta cni6
cornichon
53(a)
1 → many
2L(16309594-16310736)
worm
(Caenorhabditis elegans)
Secernentea cnih-26
Y64H9A.16
Protein Y64H9A.1
52(a)
50(a)
many ↔ many
many ↔ many
V(13180328-13181529)
X(5057363-5057581)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV146
ERV156
Protein localized to COPII-coated vesicles, involv...
Protein involved in export of proteins from the en...
28(a)
26(a)
many ↔ many
many ↔ many
VII(400871-401287)
II(645550-645978)


ENSEMBL Gene Tree for CNIH3 (if available)
TreeFam Gene Tree for CNIH3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CNIH3 gene
CNIH12  CNIH42  CNIH22  
3 SIMAP similar genes for CNIH3 using alignment to 1 protein entry:     CNIH3_HUMAN:
CNIH2    CNIH    CNIH4

CNIH3 for paralogs           About GeneDecksing



(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) 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

10/2359 SNPs in CNIH3 are shown (see all 2359)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1484350531,2
--224802209(+) TGTCTA/GCAAAC 1 -- us2k10--------
rs1861483711,2
--224802299(+) GATAGC/TACCAC 1 -- us2k10--------
rs1179783661,2
F--224802347(+) AAAAAA/GATAAA 1 -- us2k11Minor allele frequency- G:0.03EA 120
rs1906058371,2
C--224802452(+) GAGACC/TATCTT 1 -- us2k10--------
rs612473051,2
C--224802477(+) AACCCC/TGTCTT 1 -- us2k10--------
rs1475646291,2
C--224802570(+) CTTGAA/GCCAGG 1 -- us2k10--------
rs1486974951,2
C--224802639(+) CCGTC-/AAATA 
 AATAAAT
AAATA
1 -- us2k10--------
rs1496450701,2
--224802639(+) CCGTC-/AAATAAATA
AATAAATAAAT
AAATA
1 -- us2k10--------
rs1462580431,2
--224802814(+) CCCTTC/TCAGCT 1 -- us2k10--------
rs1822581981,2
--224802831(+) GCATTA/GGAATC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for CNIH3 (224622362 - 224872362 bp, first 250kb of CNIH3)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for CNIH3:    About this table     
Variant IDTypeSubtypePubMed ID
esv2670242CNV Deletion23128226
esv2723761CNV Deletion23290073
dgv102n67CNV Loss20364138
esv26044CNV Loss19812545
nsv524125CNV Gain19592680
esv24936CNV Gain19812545

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CNIH3 for disorders           About MalaCards

CNIH3 for disorders           About GeneDecksing

Genetic Association Database (GAD): CNIH3
Human Genome Epidemiology (HuGE) Navigator: CNIH3 (1 document)

Export disorders for CNIH3 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)
About This Section

PubMed articles for CNIH3 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with CNIH3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  3. 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)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
  6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
  7. Upregulation of cornichon transcripts in the dorsolate ral prefrontal cortex in schizophrenia. (PubMed id 23103966)1 Drummond J.B....Meador-Woodruff J.H. (2012)
  8. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. (PubMed id 20805473)2 Shi Y....Nicoll R.A. (2010)
  9. 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)
  10. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)

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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: 149111 HGNC: 26802 AceView: FLJ38993 Ensembl:ENSG00000143786 euGenes: HUgn149111
ECgene: CNIH3 H-InvDB: CNIH3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CNIH3 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 CNIH3 gene:
Search GeneIP for patents involving CNIH3

GeneCards and IP:
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