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Aliases for CIB2 Gene

Aliases for CIB2 Gene

  • Calcium And Integrin Binding Family Member 2 2 3 5
  • KIP2 3 4
  • DNA-Dependent Protein Kinase Catalytic Subunit-Interacting Protein 2 3
  • Usher Syndrome 1J (Autosomal Recessive) 2
  • Deafness, Autosomal Recessive 48 2
  • Kinase-Interacting Protein 2 4
  • DFNB48 3
  • USH1J 3
  • KIP 2 4

External Ids for CIB2 Gene

Previous HGNC Symbols for CIB2 Gene

  • DFNB48
  • USH1J

Previous GeneCards Identifiers for CIB2 Gene

  • GC15M076113
  • GC15M076184
  • GC15M078396
  • GC15M055154

Summaries for CIB2 Gene

Entrez Gene Summary 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 deafness, autosomal recessive 48 and usher syndrome, type ij. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is CIB1.

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). May be involved in the mechanotransduction process (By similarity).

No data available for 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

Promoters for CIB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CIB2 on UCSC Golden Path with GeneCards custom track

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

Genes around CIB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B4DDF0
    • H0YM71
    • Q05BT6

    Protein attributes for CIB2 Gene

    Size:
    187 amino acids
    Molecular mass:
    21644 Da
    Quaternary structure:
    • Homodimer (PubMed:23023331). Interacts with DFNB31 and MYO7A (PubMed:23023331). 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).

    Alternative splice isoforms for CIB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIB2 Gene

Proteomics data for CIB2 Gene at MOPED

Post-translational modifications for CIB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

Suggested Antigen Peptide Sequences for CIB2 Gene

Graphical View of Domain Structure for InterPro Entry

O75838

UniProtKB/Swiss-Prot:

CIB2_HUMAN :
  • Contains 3 EF-hand domains.
Domain:
  • Contains 3 EF-hand domains.
genes like me logo Genes that share domains with CIB2: view

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). May be involved in the mechanotransduction process (By similarity).

Gene Ontology (GO) - Molecular Function for CIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with CIB2: view
genes like me logo Genes that share phenotypes with CIB2: view

Human Phenotype Ontology for CIB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CIB2 Gene

MGI Knock Outs for CIB2:
  • Cib2 tm1b(EUCOMM)Wtsi

Animal Model 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). {ECO:0000250 UniProtKB:Q9Z309, ECO:0000269 PubMed:26173970}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CIB2 Gene COMPARTMENTS Subcellular localization image for CIB2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
plasma membrane 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CIB2: view

Pathways & Interactions for CIB2 Gene

SuperPathways for CIB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055074 calcium ion homeostasis ISS --
genes like me logo Genes that share ontologies with CIB2: view

No data available for Pathways by source and SIGNOR curated interactions for CIB2 Gene

Drugs & Compounds for CIB2 Gene

No Compound Related Data Available

Transcripts for CIB2 Gene

Unigene Clusters for CIB2 Gene

Calcium and integrin binding family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CIB2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - -
SP6:

Relevant External Links for CIB2 Gene

GeneLoc Exon Structure for
CIB2
ECgene alternative splicing isoforms for
CIB2

Expression for CIB2 Gene

mRNA expression in normal human tissues for CIB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CIB2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x6.8).

Protein differential expression in normal tissues from HIPED for CIB2 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CIB2 Gene



SOURCE GeneReport for Unigene cluster for CIB2 Gene Hs.129867

mRNA Expression by UniProt/SwissProt for CIB2 Gene

O75838-CIB2_HUMAN
Tissue specificity: Widely expressed (PubMed:23023331).
genes like me logo Genes that share expression patterns with CIB2: view

Protein tissue co-expression partners for CIB2 Gene

Primer Products

In Situ Assay Products

Orthologs for CIB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CIB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CIB2 35
  • 90.73 (n)
  • 96.69 (a)
CIB2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CIB2 35
  • 91.8 (n)
  • 97.86 (a)
CIB2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cib2 35
  • 90.2 (n)
  • 97.33 (a)
Cib2 16
Cib2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CIB2 35
  • 99.82 (n)
  • 100 (a)
CIB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cib2 35
  • 90.2 (n)
  • 98.4 (a)
oppossum
(Monodelphis domestica)
Mammalia CIB2 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CIB2 35
  • 71.66 (n)
  • 78.61 (a)
CIB2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CIB2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cib2 35
  • 71.48 (n)
  • 80.21 (a)
zebrafish
(Danio rerio)
Actinopterygii cib2 35
  • 67.91 (n)
  • 75.94 (a)
zgc73079 35
cib2 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9236 35
  • 60.25 (n)
  • 59.89 (a)
CG9236 36
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea calm-1 35
  • 53.33 (n)
  • 51.89 (a)
calm-1 36
  • 48 (a)
OneToMany
Species with no ortholog for CIB2:
  • 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)

Evolution for CIB2 Gene

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

Paralogs for CIB2 Gene

Paralogs for CIB2 Gene

genes like me logo Genes that share paralogs with CIB2: view

Variants for CIB2 Gene

Sequence variations from dbSNP and Humsavar for CIB2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_069086 Usher syndrome 1J (USH1J)
VAR_069087 Deafness, autosomal recessive, 48 (DFNB48)
VAR_069088 Deafness, autosomal recessive, 48 (DFNB48)
VAR_069089 Deafness, autosomal recessive, 48 (DFNB48)
VAR_074552 -

Structural Variations from Database of Genomic Variants (DGV) for CIB2 Gene

Variant ID Type Subtype PubMed ID
esv274890 CNV Gain+Loss 21479260
nsv94529 CNV Loss 16902084
nsv94621 CNV Loss 16902084
nsv526717 CNV Loss 19592680

Variation tolerance for CIB2 Gene

Residual Variation Intolerance Score: 51.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CIB2 Gene

HapMap Linkage Disequilibrium report
CIB2
Human Gene Mutation Database (HGMD)
CIB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIB2 Gene

Disorders for CIB2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CIB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 48
  • deafness, autosomal recessive, 48
usher syndrome, type ij
  • usher syndrome 1j
usher syndrome, type 1b
  • usher syndrome, type 1e
usher syndrome type 1j
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search CIB2 in MalaCards View complete list of genes associated with diseases

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}. 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

Genetic Association Database (GAD)
CIB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CIB2
genes like me logo Genes that share disorders with CIB2: view

No data available for Genatlas for CIB2 Gene

Publications for CIB2 Gene

  1. 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 23 67
  2. 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
  3. 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. Usher protein functions in hair cells and photoreceptors. (PMID: 24239741) Cosgrove D. … Zallocchi M. (Int. J. Biochem. Cell Biol. 2014) 3
  5. Rare case of peritoneal complete hydatidiform mole. (PMID: 24428592) Ota H. … Kushima M. (J. Obstet. Gynaecol. Res. 2014) 3

Products for CIB2 Gene

Sources for CIB2 Gene

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