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CIB2 Gene

protein-coding   GIFtS: 53
GCID: GC15M078396

Calcium And Integrin Binding Family Member 2

(Previous names: deafness, autosomal recessive 48, Usher syndrome 1J (autosomal...)
(Previous symbols: DFNB48, USH1J)
  See 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
Calcium And Integrin Binding Family Member 21 2     Deafness, Autosomal Recessive 481
KIP22 3 5     2810434I23Rik2
DFNB481 2     Calcium And Integrin-Binding Family Member 22
USH1J1 2     DNA-Dependent Protein Kinase Catalytic Subunit-Interacting Protein 22
Usher Syndrome 1J (Autosomal Recessive)1 2     Kinase-Interacting Protein 23
KIP 22 3     

External Ids:    HGNC: 245791   Entrez Gene: 105182   Ensembl: ENSG000001364257   OMIM: 6055645   UniProtKB: O758383   

Export aliases for CIB2 gene to outside databases

Previous GC identifers: GC15M076113 GC15M076184 GC15M055154


(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 CIB2 Gene:
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that
the encoded protein may be a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase
catalytic subunits (DNA-PKcs). Several transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Dec 2012)

GeneCards Summary for CIB2 Gene:
CIB2 (calcium and integrin binding family member 2) is a protein-coding gene. Diseases associated with CIB2 include deafness, autosomal recessive 48, and usher syndrome, type ij. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CIB1.

UniProtKB/Swiss-Prot: CIB2_HUMAN, O75838
Function: Calcium-binding protein critical for proper photorecetor cell maintenance and function. May play a role
in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity)




(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:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CIB2 gene promoter:
         GCNF   AP-2gamma   E47   YY1   CREB   GCNF-1   deltaCREB   Hand1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCIB2 promoter sequence
   Search Chromatin IP Primers for CIB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CIB2


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

Entrez Gene cytogenetic band: 15q24   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q24

CIB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIB2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M078396:  view genomic region     (about GC identifiers)

Start:
78,396,948 bp from pter      End:
78,423,886 bp from pter
Size:
26,939 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CIB2_HUMAN, O75838 (See protein sequence)
Recommended Name: Calcium and integrin-binding family member 2  
Size: 187 amino acids; 21644 Da
Subunit: Interacts with ITGA2B (via C-terminus cytoplasmic tail region) and ITGA7 (via C-terminus cytoplasmic tail
region); the interactions are stabilized/increased in a calcium and magnesium-dependent manner
Miscellaneous: The binding of either calcium or magnesium significantly increases the structural stability of the
protein in comparison to apo-CIB (calcium- and magnesium-free form)
Secondary accessions: B4DDF0 Q05BT6
Alternative splicing: 3 isoforms:  O75838-1   O75838-2   O75838-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CIB2: NX_O75838

Explore proteomics data for CIB2 at MOPED


See CIB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001258817.1  NP_001258818.1  NP_006374.1  

ENSEMBL proteins: 
 ENSP00000258930   ENSP00000442459   ENSP00000453488   ENSP00000453654   ENSP00000453963  
 ENSP00000453256   ENSP00000452752   ENSP00000452980   ENSP00000453377  

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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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HGNC Gene Families:
EFHAND: EF-hand domain containing

3 InterPro protein domains:
 IPR011992 EF-hand-dom_pair
 IPR002048 EF_hand_dom
 IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry O75838

ProtoNet protein and cluster: O75838

UniProtKB/Swiss-Prot: CIB2_HUMAN, O75838
Similarity: Contains 3 EF-hand domains


CIB2 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CIB2_HUMAN, O75838
Function: Calcium-binding protein critical for proper photorecetor cell maintenance and function. May play a role
in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity)

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005178integrin binding IEA--
GO:0005509calcium ion binding IEA--
GO:0005515protein binding IPI--
GO:0032403protein complex binding ----
     
CIB2 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for CIB2:
 Decreased viability  Metaphase cells 

     1 MGI phenotypic allele for Cib2 (no phenotypes)

CIB2 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CIB2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CIB2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CIB2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CIB2

miRNA
Products:
    
miRTarBase miRNAs that target CIB2:
hsa-mir-192-5p (MIRT026843), hsa-mir-215-5p (MIRT024873)

Block miRNA regulation of human, mouse, rat CIB2 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate CIB2 (see all 13):
hsa-miR-448 hsa-miR-130a* hsa-miR-23c hsa-miR-488 hsa-miR-1233 hsa-miR-153 hsa-miR-23b hsa-miR-129-5p
SwitchGear 3'UTR luciferase reporter plasmidCIB2 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat CIB2

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CIB2

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIB2


(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
CIB2_HUMAN, O75838: Photoreceptor inner segment (By similarity). Cell membrane, sarcolemma (By similarity).
Note=Expressed in inner and outer segments of photoreceptor cells, as well as in the pigmented epithelium. Also
observed in the inner and outer plexiform layers and in the ganglion cell layer. Colocalized with ITGA7 at the
myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
mitochondrion2
extracellular1
nucleus1
peroxisome1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001917photoreceptor inner segment ISS--
GO:0005927muscle tendon junction IEA--
GO:0031594neuromuscular junction IEA--
GO:0042383sarcolemma IEA--
GO:0072562blood microparticle IDA--

CIB2 for ontologies           About GeneDecksing


(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 CIB2
Interactions:

    Search GeneGlobe Interaction Network for CIB2

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for CIB2 (O758383 ENSP000002589304) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MYOD1P151723, ENSP000002500034I2D: score=1 STRING: ENSP00000250003
C3AR1ENSP000003020794STRING: ENSP00000302079
CHRM4ENSP000004093784STRING: ENSP00000409378
DRD5ENSP000003061294STRING: ENSP00000306129
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007229integrin-mediated signaling pathway ----
GO:0045494photoreceptor cell maintenance ISS--
GO:0055074calcium ion homeostasis ISS--

CIB2 for ontologies           About GeneDecksing



(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 CIB2



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CIB2 gene (3 alternative transcripts): 
NM_001271888.1  NM_001271889.1  NM_006383.3  

Unigene Cluster for CIB2:

Calcium and integrin binding family member 2
Hs.129867  [show with all ESTs]
Unigene Representative Sequence: NM_006383
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000258930(uc002bdb.1 uc002bdc.1 uc010ums.1) ENST00000539011
ENST00000557846 ENST00000557818 ENST00000557917 ENST00000561190 ENST00000560618
ENST00000559645 ENST00000559054
miRNA
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Block miRNA regulation of human, mouse, rat CIB2 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate CIB2 (see all 13):
hsa-miR-448 hsa-miR-130a* hsa-miR-23c hsa-miR-488 hsa-miR-1233 hsa-miR-153 hsa-miR-23b hsa-miR-129-5p
SwitchGear 3'UTR luciferase reporter plasmidCIB2 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat CIB2
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GenScript: all cDNA clones in your preferred vector: CIB2 (NM_006383)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CIB2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CIB2
Primer
Products:
    
OriGene qPCR primer pairs and template standards for CIB2
OriGene qSTAR qPCR primer pairs in human, mouse for CIB2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CIB2
  QuantiTect SYBR Green Assays in human, mouse, rat CIB2
  QuantiFast Probe-based Assays in human, mouse, rat CIB2

Additional mRNA sequence: 

AB012955.1 AL110098.1 BC020443.1 BC033108.1 BC047381.1 BC057292.1 BT019962.1 

9 DOTS entries:

DT.101983174  DT.213037  DT.95260983  DT.95266788  DT.100752024  DT.97823015  DT.100021102  DT.92423718 
DT.95266787 

Selected AceView cDNA sequences (see all 109):

AI216148 BM551089 AI827068 BC020443 BM684896 NM_006383 AI364119 BE220454 
BE220389 AI417406 BF732986 AA988533 AI128397 AW162267 AI571206 BM803930 
BX280035 BE042882 AI423053 AW406244 BU556614 BM977947 AI475480 BU541041 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CIB2 (see all 6)    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b
SP1:                          -     -     -                       -               
SP2:                                -     -                       -               
SP3:        -                 -     -     -                                       
SP4:        -     -     -     -     -     -                       -               
SP5:              -     -     -     -                                             


ECgene alternative splicing isoforms for CIB2

(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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CIB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGTACCACCC
CIB2 Expression
About this image


CIB2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         Mandibular Arch Muscles
 
 Thymus (Hematopoietic System)
         Double Positive Thymocytes Thymus
 
 Limb (Muscoskeletal System)
         Hindlimb Ventral Muscle
 
 Epiblast (Early Embryonic Tissues)
         Epiblast-like cells
 
 Blood (Cardiovascular System)
         Double Positive Thymocytes Thymus
CIB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CIB2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.129867

UniProtKB/Swiss-Prot: CIB2_HUMAN, O75838
Tissue specificity: Ubiquitous

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QuantiFast Probe-based Assays in human, mouse, rat CIB2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIB2

(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 CIB2 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cib21 , 5 calcium and integrin binding family member 21, 5 90.2(n)1
97.33(a)1
  9 (29.70 cM)5
565061  NM_019686.51  NP_062660.11 
 545447945 
chicken
(Gallus gallus)
Aves CIB21 calcium and integrin binding family member 2 71.66(n)
78.61(a)
  415363  XM_413749.4  XP_413749.1 
lizard
(Anolis carolinensis)
Reptilia CIB26
calcium and integrin binding family member 2
73(a)
1 ↔ 1
GL344373.1(250-15572)
tropical clawed frog
(Xenopus tropicalis)
Amphibia cib21 calcium and integrin binding family member 2 71.48(n)
80.21(a)
  780271  NM_001079342.1  NP_001072810.1 
zebrafish
(Danio rerio)
Actinopterygii zgc730792 hypothetical protein MGC73079 74.32(n)   393679  BC059451.1 
fruit fly
(Drosophila melanogaster)
Insecta CG92361 CG9236 60.25(n)
59.89(a)
  37363  NM_137679.3  NP_611523.3 
worm
(Caenorhabditis elegans)
Secernentea calm-11 calm-1 53.33(n)
51.89(a)
  172774  NM_060113.3  NP_492514.2 


ENSEMBL Gene Tree for CIB2 (if available)
TreeFam Gene Tree for CIB2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CIB2 gene
CIB12  CIB32  PPP3R22  CIB42  PPP3R12  WDR922  ENSG000002733982  CHP22  
CHP12  
8 SIMAP similar genes for CIB2 using alignment to 8 protein entries:     CIB2_HUMAN (see all proteins):
CIB3    CIB1    CIB4    PPP3R1    PPP3R2    CALM3
HZGJ    CALM2

CIB2 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), 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 CIB2 (see all 621)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0690884
Deafness, autosomal recessive, 48 (DFNB48)4--see VAR_0690882 C W mis40--------
VAR_0690874
Deafness, autosomal recessive, 48 (DFNB48)4--see VAR_0690872 F S mis40--------
VAR_0690894
Deafness, autosomal recessive, 48 (DFNB48)4--see VAR_0690892 I T mis40--------
VAR_0690864
Usher syndrome 1J (USH1J)4--see VAR_0690862 E D mis40--------
rs2011932231,2
C--55159096(+) CCCCA-/CCCCGCA 3 -- int10--------
rs1487096041,2
C--55160770(+) AGACA-/CAGGTCTG
CCAACTACAG
CAGGC
3 -- int10--------
rs2007501261,2
C--55166858(+) GAACC-/A/AA  
        
AAAAA
3 -- int10--------
rs1451704381,2
--58435477(+) GTCCCC/TTTCTC 3 -- ds5001 int10--------
rs1141822381,2
C,F--58435587(+) TGCCCC/TTCCTC 3 -- ds5001 int11Minor allele frequency- T:0.04WA 118
rs1475836131,2
C--58435767(+) AGCACG/TCCCAA 3 -- ds5001 int10--------

HapMap Linkage Disequilibrium report for CIB2 (78396948 - 78423886 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for CIB2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv94621CNV Loss16902084
nsv526717CNV Loss19592680
nsv94529CNV Loss16902084
esv274890CNV Gain+Loss21479260

Human Gene Mutation Database (HGMD): CIB2
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CIB2
DNA2.0 Custom Variant and Variant Library Synthesis for CIB2

(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.)
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OMIM gene information: 605564   
OMIM disorders: 609439  614869  
UniProtKB/Swiss-Prot: CIB2_HUMAN, O75838
  • Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of
    severe to profound sensorineural hearing loss affecting all frequencies. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Usher syndrome 1J (USH1J) [MIM:614869]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function
    and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 17 diseases for CIB2:    
    About MalaCards
    deafness, autosomal recessive 48    usher syndrome, type ij    usher syndrome type 1j    usher syndrome type 3
    usher syndrome type 1g    usher syndrome type i    usher syndrome    nonsyndromic deafness
    deafness, autosomal recessive 76    keratoconus    sensorineural hearing loss    retinitis pigmentosa
    cataract    blindness    retinitis    multiple myeloma
    myeloma


    CIB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CIB2

    Export disorders for CIB2 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 CIB2 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with CIB2)
        Utopia: connect your pdf to the dynamic
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    1. Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene. (PubMed id 9931475)1, 2, 3, 9 Seki N....Saito T. (Biochim. Biophys. Acta 1999)
    2. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (PubMed id 23023331)1, 2, 3 Riazuddin S.... Ahmed Z.M. (Nat. Genet. 2012)
    3. Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences. (PubMed id 22779914)1, 2 Huang H....Vogel H.J. (Biochem. Cell Biol. 2012)
    4. 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)
    5. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
    6. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    7. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. (PubMed id 15711797)1 Ahmad J....Riazuddin S. (Hum. Genet. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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: 10518 HGNC: 24579 AceView: CIB2 Ensembl:ENSG00000136425 euGenes: HUgn10518
    ECgene: CIB2 H-InvDB: CIB2

    (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 CIB2 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 CIB2 gene:
    Search GeneIP for patents involving CIB2

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



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