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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
  • 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. Gene Ontology (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).

Additional gene information for CIB2 Gene

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

GeneHancer (GH) Regulatory Elements for CIB2 Gene

Promoters and enhancers for CIB2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I078128 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 596.4 +1.1 1121 3.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B ZNF213 CIB2 IDH3A ENSG00000259562 IREB2 TBC1D2B PSMA4 PIR50456 GC15M078021
GH15I078132 Enhancer 0.5 ENCODE 556.7 -2.0 -1997 2.1 JUND GATA3 EBF1 FOS CIB2 TBC1D2B SH2D7 IDH3A ENSG00000260988 GC15M078021
GH15I078124 Promoter 0.5 EPDnew 550.4 +7.2 7151 0.1 CIB2 ENSG00000199633 SH2D7 TBC1D2B IDH3A PIR50456 GC15M078021
GH15I078166 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.7 -39.0 -38995 8.6 PKNOX1 BATF IRF4 ZNF335 ZNF766 ATF7 BCLAF1 IKZF2 RUNX3 JUNB CIB2 ENSG00000259562 IDH3A ENSG00000259322 SH2D7 TBC1D2B ENSG00000199633 IREB2 GC15P078155 PIR56006
GH15I078100 Enhancer 1 Ensembl ENCODE 24.4 +28.0 27996 6 HDGF NEUROD1 ZBTB40 ZBTB7B IRF4 ZNF121 ZNF143 ATF7 ETV6 RCOR1 PIR50456 CIB2 TBC1D2B SH2D7 ENSG00000199633 GC15M078092 GC15M078021
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CIB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CIB2 gene promoter:

Genomic Locations for CIB2 Gene

Genomic Locations for CIB2 Gene
27,116 bases
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:
    Recommended name:
    Calcium and integrin-binding family member 2
    Protein Accession:
    Secondary Accessions:
    • B4DDF0
    • H0YM71
    • Q05BT6

    Protein attributes for CIB2 Gene

    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).
    • 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


neXtProt entry for CIB2 Gene

Post-translational modifications for CIB2 Gene

No Post-translational modifications

Antibody Products

  • Abcam antibodies for CIB2

No data available for DME Specific Peptides for CIB2 Gene

Domains & Families for CIB2 Gene

Gene Families for CIB2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CIB2 Gene

Suggested Antigen Peptide Sequences for CIB2 Gene

Graphical View of Domain Structure for InterPro Entry

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

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).

Phenotypes From GWAS Catalog for CIB2 Gene

Gene Ontology (GO) - Molecular Function for CIB2 Gene

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 IEA,IDA 22779914
GO:0005515 protein binding IPI 22779914
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

Clone 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}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CIB2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
plasma membrane 3
nucleus 3
mitochondrion 2
cytosol 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:0001917 photoreceptor inner segment ISS --
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane IEA --
GO:0005927 muscle tendon junction IEA --
genes like me logo Genes that share ontologies with CIB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CIB2 Gene

Pathways & Interactions for CIB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process 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
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

(2) Drugs for CIB2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
genes like me logo Genes that share compounds with CIB2: view

Transcripts for CIB2 Gene

Unigene Clusters for CIB2 Gene

Calcium and integrin binding family member 2:
Representative Sequences:

Clone Products

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: - - - -

Relevant External Links for CIB2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CIB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for CIB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CIB2 Gene:


SOURCE GeneReport for Unigene cluster for CIB2 Gene:


mRNA Expression by UniProt/SwissProt for CIB2 Gene:

Tissue specificity: Widely expressed (PubMed:23023331).

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • middle ear
  • nose
  • outer ear
  • skull
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns 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
(Pan troglodytes)
Mammalia CIB2 33 34
  • 99.82 (n)
(Canis familiaris)
Mammalia CIB2 33 34
  • 91.8 (n)
(Bos Taurus)
Mammalia CIB2 33 34
  • 90.73 (n)
(Mus musculus)
Mammalia Cib2 33 16 34
  • 90.2 (n)
(Rattus norvegicus)
Mammalia Cib2 33
  • 90.2 (n)
(Monodelphis domestica)
Mammalia CIB2 34
  • 86 (a)
(Gallus gallus)
Aves CIB2 33 34
  • 71.66 (n)
(Anolis carolinensis)
Reptilia CIB2 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cib2 33
  • 71.48 (n)
(Danio rerio)
Actinopterygii cib2 33 34
  • 67.91 (n)
zgc73079 33
fruit fly
(Drosophila melanogaster)
Insecta CG9236 33 34
  • 60.25 (n)
(Caenorhabditis elegans)
Secernentea calm-1 33 34
  • 53.33 (n)
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)

Evolution for CIB2 Gene

Gene Tree for CIB2 (if available)
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 Variation AA Info Type
rs145415848 pathogenic, likely-benign, Usher syndrome, type 1J, Usher syndrome, type 1, not specified, Usher syndrome 1J (USH1J) [MIM:614869] 78,111,171(-) C/G/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs370359511 Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] 78,105,319(-) G/A/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs370965183 pathogenic, Deafness, autosomal recessive 48, Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] 78,109,284(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs397515411 pathogenic, Deafness, autosomal recessive 48, Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] 78,109,309(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs397515412 pathogenic, Deafness, autosomal recessive 48, Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] 78,105,913(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv94621 CNV deletion 16902084
nsv94529 CNV deletion 16902084
nsv526717 CNV loss 19592680
nsv1116464 OTHER inversion 24896259
esv3636979 CNV gain 21293372
esv3581778 CNV loss 25503493
esv274890 CNV gain+loss 21479260

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)

Additional Variant Information for CIB2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for CIB2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CIB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 48
  • dfnb48
usher syndrome, type ij
  • ush1j
usher syndrome, type i
  • ush1
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
usher syndrome
  • retinitis pigmentosa-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CIB2 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for 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 (Biochimica et biophysica acta 1999) 2 3 4 22 58
  2. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (PMID: 23023331) Riazuddin S … Ahmed ZM (Nature genetics 2012) 2 3 4 58
  3. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (PMID: 26173970) Seco CZ … Kremer H (European journal of human genetics : EJHG 2016) 3 4 58
  4. 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 BE (PloS one 2015) 3 4 58
  5. Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences. (PMID: 22779914) Huang H … Vogel HJ (Biochemistry and cell biology = Biochimie et biologie cellulaire 2012) 3 4 58

Products for CIB2 Gene

Sources for CIB2 Gene

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