Aliases for CIB2 Gene
Aliases for CIB2 Gene
External Ids for CIB2 Gene
- HGNC: 24579
- Entrez Gene: 10518
- Ensembl: ENSG00000136425
- OMIM: 605564
- UniProtKB: O75838
Previous HGNC Symbols for CIB2 Gene
- DFNB48
- USH1J
Previous GeneCards Identifiers for CIB2 Gene
- GC15M076113
- GC15M076184
- GC15M078396
- GC15M055154
Summaries for CIB2 Gene
-
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GeneCards Summary for CIB2 Gene
CIB2 (Calcium And Integrin Binding Family Member 2) is a Protein Coding gene. Diseases associated with CIB2 include Usher Syndrome, Type Ij and Deafness, Autosomal Recessive 48. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is CIB3.
UniProtKB/Swiss-Prot for CIB2 Gene
-
Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). May be involved in the mechanotransduction process (By similarity).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIB2 Gene
Genomics for CIB2 Gene
Regulatory Elements for CIB2 Gene
Regulatory Element Products
Genomic Location for CIB2 Gene
- Chromosome:
- 15
- Start:
- 78,104,606 bp from pter
- End:
- 78,131,721 bp from pter
- Size:
- 27,116 bases
- Orientation:
- Minus strand
Genomic View for CIB2 Gene
- Cytogenetic band:
-
- 15q25.1 by Ensembl
- 15q25.1 by Entrez Gene
- 15q25.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CIB2 Gene
Proteins for CIB2 Gene
-
Protein details for CIB2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75838-CIB2_HUMAN
- Recommended name:
- Calcium and integrin-binding family member 2
- Protein Accession:
- O75838
- B4DDF0
- H0YM71
- Q05BT6
Protein attributes for CIB2 Gene
- Size:
- 187 amino acids
- Molecular mass:
- 21644 Da
- Quaternary structure:
-
- Homodimer (PubMed:23023331). Interacts with WHRN and MYO7A (PubMed:23023331, PubMed:26426422). 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 (PubMed:22779914).
- 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) (PubMed:22779914).
Protein Expression for CIB2 Gene
Post-translational modifications for CIB2 Gene
Other Protein References for CIB2 Gene
Antibody Products
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Protein Products
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Assay Products
- antibodies-online Kits for CIB2: See all 5
No data available for DME Specific Peptides for CIB2 Gene
Domains & Families for CIB2 Gene
Gene Families for CIB2 Gene
Protein Domains for CIB2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CIB2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CIB2 Gene
Function for CIB2 Gene
Molecular function for CIB2 Gene
- UniProtKB/Swiss-Prot Function:
- Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). May be involved in the mechanotransduction process (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000287 | magnesium ion binding | IDA | 22779914 |
| GO:0005178 | integrin binding | IEA | -- |
| GO:0005509 | calcium ion binding | IDA,IEA | 22779914 |
| GO:0005515 | protein binding | IPI | 22779914 |
| GO:0032403 | protein complex binding | IEA | -- |
Phenotypes for CIB2 Gene
- MGI mutant phenotypes for CIB2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CIB2:
-
- Increased vaccinia virus (VACV) infection
- Lamellipodia cells
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased shRNA abundance
- Decreased Tat-dependent HIV-LTR-beta-galactosidase protein expression
- Increased Nanog expression
- Decreased cella89culturea89derived Hepatitis C virus (HCVcc
- Decreased Hepatitis C Virus pseudoparticles (HCVpp
Animal Models for CIB2 Gene
- MGI Knock Outs for CIB2:
-
- Cib2 tm1b(EUCOMM)Wtsi
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CRISPR Products
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miRNA for CIB2 Gene
- miRTarBase miRNAs that target CIB2
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CIB2 Gene
Localization for CIB2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CIB2 Gene
- Cytoplasm. Cell projection, stereocilium. Photoreceptor inner segment. Cell projection, cilium, photoreceptor outer segment. Cell membrane, sarcolemma. Note=Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). Localizes in the cuticular plate along and at the tip of the stereocilia of vestibular sensory hair cells (PubMed:26173970, PubMed:26426422). {ECO:0000250 UniProtKB:Q9Z309, ECO:0000269 PubMed:26173970, ECO:0000269 PubMed:26426422}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001750 | photoreceptor outer segment | ISS | -- |
| GO:0001917 | photoreceptor inner segment | ISS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005927 | muscle tendon junction | IEA | -- |
Pathways & Interactions for CIB2 Gene
Interacting Proteins for CIB2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | IDA | 23023331 |
| GO:0045494 | photoreceptor cell maintenance | ISS | -- |
| GO:0055074 | calcium ion homeostasis | ISS | -- |
| GO:0071318 | cellular response to ATP | IDA | 23023331 |
No data available for Pathways by source and SIGNOR curated interactions for CIB2 Gene
Transcripts for CIB2 Gene
mRNA/cDNA for CIB2 Gene
- (7) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (109) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CIB2 Gene
CRISPR Products
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OriGene CRISPR knockouts for CIB2
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miRNA Products
- Search ViGene Biosciences for CIB2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CIB2
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-
ViGene Biosciences ready-to-package AAV shRNAs for CIB2 gene
Clone Products
- Sino Biological Human cDNA Clone for CIB2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CIB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CIB2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||
| SP6: |
Expression for CIB2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
-
Thymus (Hematopoietic System)
- Double Positive Thymocytes Thymus
-
Blood (Cardiovascular System)
- Double Positive Thymocytes Thymus
- Limb (Muscoskeletal System)
- Epiblast (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for CIB2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CIB2 Gene
NURSA nuclear receptor signaling pathways regulating expression of CIB2 Gene:
CIB2SOURCE GeneReport for Unigene cluster for CIB2 Gene:
Hs.129867mRNA Expression by UniProt/SwissProt for CIB2 Gene:
O75838-CIB2_HUMANEvidence on tissue expression from TISSUES for CIB2 Gene
- Nervous system(4.2)
- Skin(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CIB2 Gene
- ectoderm
- endoderm
- mesoderm
- immune
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- head
- inner ear
- middle ear
- nose
- outer ear
- skull
- peripheral nerve
- peripheral nervous system
Primer Products
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OriGene qPCR primer pairs and template standards for CIB2
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OriGene qPCR primer pairs for CIB2
Orthologs for CIB2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CIB2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CIB2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CIB2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cib2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cib2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CIB2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CIB2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CIB2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cib2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cib2 34 35 |
|
||
| zgc73079 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9236 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | calm-1 34 35 |
|
- Species where no ortholog for CIB2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CIB2 Gene
(8) SIMAP similar genes for CIB2 Gene using alignment to 8 proteins:
Variants for CIB2 Gene
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs145415848 | Pathogenic, Usher syndrome 1J (USH1J) [MIM:614869] | 78,111,171(+) | CGGAG(C/G/T)TCTGG | intron-variant, nc-transcript-variant, reference, synonymous-codon | |
| rs370359511 | Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] | 78,105,319(+) | GATCC(A/G/T)GATGT | nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, missense | |
| rs370965183 | Pathogenic, Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] | 78,109,284(+) | GACTC(A/C/G)CAGAG | nc-transcript-variant, reference, synonymous-codon | |
| rs397515411 | Pathogenic, Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] | 78,109,309(-) | CGACT(C/T)TGTGG | nc-transcript-variant, reference, missense | |
| rs397515412 | Pathogenic, Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] | 78,105,913(-) | CTTCA(C/T)CTGCA | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv274890 | CNV | gain+loss | 21479260 |
| esv3581778 | CNV | loss | 25503493 |
| esv3636979 | CNV | gain | 21293372 |
| nsv1116464 | OTHER | inversion | 24896259 |
| nsv526717 | CNV | loss | 19592680 |
| nsv94529 | CNV | deletion | 16902084 |
| nsv94621 | CNV | deletion | 16902084 |
Relevant External Links for CIB2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIB2 Gene
Disorders for CIB2 Gene
(12) MalaCards diseases for CIB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| usher syndrome, type ij |
|
|
| deafness, autosomal recessive 48 |
|
|
| usher syndrome, type 1b |
|
|
| dfnb48 nonsyndromic hearing loss and deafness |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
UniProtKB/Swiss-Prot
CIB2_HUMAN- 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. {ECO:0000269 PubMed:23023331, ECO:0000269 PubMed:26173970, ECO:0000269 PubMed:26426422}. 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. {ECO:0000269 PubMed:23023331}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CIB2
No data available for Genatlas for CIB2 Gene
Publications for CIB2 Gene
- Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene. (PMID: 9931475) Seki N. … Saito T. (Biochim. Biophys. Acta 1999) 2 3 4 22 64
- Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (PMID: 23023331) Riazuddin S. … Ahmed Z.M. (Nat. Genet. 2012) 2 3 4 64
- A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family. (PMID: 26426422) Patel K. … Morrow B.E. (PLoS ONE 2015) 3 4 64
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (PMID: 26173970) Seco C.Z. … Kremer H. (Eur. J. Hum. Genet. 2015) 3 4 64
- Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences. (PMID: 22779914) Huang H. … Vogel H.J. (Biochem. Cell Biol. 2012) 3 4 64
Products for CIB2 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for CIB2 gene
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- VectorBuilder custom plasmid, inducible vectors for CIB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CIB2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CIB2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
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