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Aliases for CIB2 Gene

Aliases for CIB2 Gene

  • Calcium And Integrin Binding Family Member 2 2 3
  • KIP2 3 4 6
  • DNA-Dependent Protein Kinase Catalytic Subunit-Interacting Protein 2 3
  • Calcium And Integrin-Binding Family Member 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. An important paralog of this gene is CHP1.

UniProtKB/Swiss-Prot for CIB2 Gene

  • Calcium-binding protein critical for proper photoreceptor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation 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

Genomic Location for CIB2 Gene

Start:
78,104,606 bp from pter
End:
78,131,544 bp from pter
Size:
26,939 bases
Orientation:
Minus strand

Genomic View for CIB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • 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)

    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

No data available for DME Specific Peptides for CIB2 Gene

Domains for CIB2 Gene

Gene Families for CIB2 Gene

HGNC:
  • EFHAND :EF-hand domain containing

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 :
  • O75838
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. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity).

Gene Ontology (GO) - Molecular Function for CIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 23023331
GO:0032403 protein complex binding --
genes like me logo Genes that share ontologies with CIB2: view

Phenotypes for CIB2 Gene

GenomeRNAi human phenotypes for CIB2:
genes like me logo Genes that share phenotypes with CIB2: view

miRNA for CIB2 Gene

miRTarBase miRNAs that target CIB2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CIB2 Gene

Localization for CIB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CIB2 Gene

Photoreceptor inner segment. Cell membrane, sarcolemma. 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). {ECO:0000250}.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for CIB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005927 muscle tendon junction IEA --
GO:0031594 neuromuscular junction IEA --
GO:0042383 sarcolemma IEA --
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with CIB2: view

Pathways 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:0045494 photoreceptor cell maintenance ISS --
GO:0055074 calcium ion homeostasis ISS --
genes like me logo Genes that share ontologies with CIB2: view

No data available for Pathways by source for CIB2 Gene

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 (6.8).

Integrated Proteomics: protein expression 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: Ubiquitous
genes like me logo Genes that share expressions with CIB2: view

Orthologs for CIB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CIB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIB2 35
  • 99.82 (n)
  • 100 (a)
CIB2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CIB2 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cib2 35
  • 90.2 (n)
  • 98.4 (a)
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)
cib2 36
  • 76 (a)
OneToOne
zgc73079 35
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

Selected SIMAP similar genes for CIB2 Gene using alignment to 8 proteins:

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 MAF
rs10456 -- 78,105,804(-) TTGGA(C/T)GGTGA reference, synonymous-codon, nc-transcript-variant
rs894297 -- 78,121,869(-) GAGCT(C/T)GAAGG intron-variant, upstream-variant-2KB
rs1542100 -- 78,120,855(-) TGCTA(C/T)TCCCC intron-variant, upstream-variant-2KB
rs1542101 -- 78,120,674(-) TGCCC(C/T)GCCCC intron-variant, upstream-variant-2KB
rs1561807 -- 78,106,372(-) GGCCC(C/T)AGTCA intron-variant

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

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

(2) OMIM Diseases for CIB2 Gene (605564)

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}. 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
genes like me logo Genes that share disorders with CIB2: view

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
  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 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 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
  5. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. (PMID: 15711797) Ahmad J. … Riazuddin S. (Hum. Genet. 2005) 3

Products for CIB2 Gene

Sources for CIB2 Gene

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