This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] See more...

Aliases for CIB3 Gene

Aliases for CIB3 Gene

  • Calcium And Integrin Binding Family Member 3 2 3 5
  • Calcium And Integrin-Binding Family Member 3 3 4
  • KIP3 3 4
  • DNA-Dependent Protein Kinase Catalytic Subunit-Interacting Protein 3 3
  • Kinase-Interacting Protein 3 4
  • KIP 3 4

External Ids for CIB3 Gene

Previous GeneCards Identifiers for CIB3 Gene

  • GC00U914336
  • GC19M016134
  • GC19M016272
  • GC19M015842

Summaries for CIB3 Gene

Entrez Gene Summary for CIB3 Gene

  • This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for CIB3 Gene

CIB3 (Calcium And Integrin Binding Family Member 3) is a Protein Coding gene. Diseases associated with CIB3 include Deafness, Autosomal Recessive 48 and Tukel Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CIB2.

Additional gene information for CIB3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CIB3 Gene

Genomics for CIB3 Gene

GeneHancer (GH) Regulatory Elements for CIB3 Gene

Promoters and enhancers for CIB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J016172 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.5 538 2 ZNF217 GATAD2B CTBP1 RBM25 ESRRA MYC CTCF MBD2 ZNF207 NEUROD1 CIB3 lnc-EPS15L1-5 AP1M1 ENSG00000269243
GH19J016091 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +78.3 78267 7.6 ZNF217 TCF12 NCOR1 TCF7 KLF4 CUX1 TGIF2 SKI TEAD1 TBX3 HSH2D CIB3 FAM32A EPS15L1 RAB8A ENSG00000267373 ENSG00000279198 TPM4
GH19J016148 Enhancer 0.8 ENCODE dbSUPER 13.9 +23.8 23750 2.7 OSR2 SPI1 NFATC3 ATF4 POLR2A CEBPB BHLHE40 ZMYM3 ZFP36 ETS1 CIB3 FAM32A AP1M1 ENSG00000269243 HSH2D lnc-EPS15L1-5
GH19J016040 Enhancer 0.6 ENCODE 11.8 +132.8 132759 0.6 ZBTB17 GABPB1 ZNF395 TFAP4 HNF4A ARID4B ELF3 NR2C1 PPARG ELF1 piR-31289 piR-33488 piR-33695 piR-31588 piR-31730 piR-31746 piR-33901 piR-43208 piR-34260 piR-43366
GH19J016207 Enhancer 0.4 Ensembl 11.6 -34.2 -34176 2.2 POLR2G ZFHX2 AGO2 EGR2 AP1M1 FAM32A CIB3 C19orf44 ENSG00000141979 EPS15L1 ENSG00000287961 piR-35674-250
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CIB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CIB3

Top Transcription factor binding sites by QIAGEN in the CIB3 gene promoter:
  • AML1a
  • C/EBPalpha
  • ER-alpha
  • GATA-2
  • LUN-1
  • Pax-3
  • Pbx1a
  • POU3F2
  • POU6F1 (c2)
  • RFX1

Genomic Locations for CIB3 Gene

Genomic Locations for CIB3 Gene
chr19:16,161,368-16,173,525
(GRCh38/hg38)
Size:
12,158 bases
Orientation:
Minus strand
chr19:16,272,179-16,284,336
(GRCh37/hg19)
Size:
12,158 bases
Orientation:
Minus strand

Genomic View for CIB3 Gene

Genes around CIB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIB3 Gene

Proteins for CIB3 Gene

  • Protein details for CIB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q77-CIB3_HUMAN
    Recommended name:
    Calcium and integrin-binding family member 3
    Protein Accession:
    Q96Q77
    Secondary Accessions:
    • E7EUX1
    • Q2M1W0
    • Q6ISP1

    Protein attributes for CIB3 Gene

    Size:
    187 amino acids
    Molecular mass:
    21802 Da
    Quaternary structure:
    • Interacts with ITGA2B (via C-terminus cytoplasmic tail region); the interaction is 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 CIB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIB3 Gene

Post-translational modifications for CIB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CIB3 Gene

No data available for DME Specific Peptides for CIB3 Gene

Domains & Families for CIB3 Gene

Gene Families for CIB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CIB3 Gene

Suggested Antigen Peptide Sequences for CIB3 Gene

GenScript: Design optimal peptide antigens:
  • Kinase-interacting protein 3 (CIB3_HUMAN)
  • Calcium and integrin binding family member 3, isoform CRA_c (Q6ISP1_HUMAN)
  • CIB3 protein (Q6NT26_HUMAN)
genes like me logo Genes that share domains with CIB3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CIB3 Gene

Function for CIB3 Gene

Phenotypes From GWAS Catalog for CIB3 Gene

Gene Ontology (GO) - Molecular Function for CIB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 22779914
GO:0005509 calcium ion binding IDA 22779914
GO:0005515 protein binding IPI 22779914
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CIB3: view
genes like me logo Genes that share phenotypes with CIB3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIB3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CIB3 Gene

Localization for CIB3 Gene

Subcellular locations from

COMPARTMENTS
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 CIB3 gene
Compartment Confidence
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CIB3 Gene

Pathways & Interactions for CIB3 Gene

PathCards logo

SuperPathways for CIB3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CIB3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CIB3 Gene

Drugs & Compounds for CIB3 Gene

No Compound Related Data Available

Transcripts for CIB3 Gene

mRNA/cDNA for CIB3 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIB3

Alternative Splicing Database (ASD) splice patterns (SP) for CIB3 Gene

No ASD Table

Relevant External Links for CIB3 Gene

GeneLoc Exon Structure for
CIB3

Expression for CIB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CIB3 Gene

mRNA differential expression in normal tissues according to GTEx for CIB3 Gene

This gene is overexpressed in Testis (x27.7) and Whole Blood (x8.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CIB3

SOURCE GeneReport for Unigene cluster for CIB3 Gene:

Hs.255432
genes like me logo Genes that share expression patterns with CIB3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CIB3 Gene

Orthologs for CIB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CIB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIB3 31 30
  • 98.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CIB3 31 30
  • 91.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CIB3 31 30
  • 91.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cib3 17 31 30
  • 85 (n)
rat
(Rattus norvegicus)
Mammalia Cib3 30
  • 84.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CIB3 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CIB3 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CIB3 31 30
  • 75.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CIB3 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cib3 30
  • 73.15 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01118627.1 31
  • 82 (a)
OneToOne
LOC100535603 30
  • 77.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9236 31
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea calm-1 31
  • 46 (a)
OneToMany
Species where no ortholog for CIB3 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)
  • 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 CIB3 Gene

ENSEMBL:
Gene Tree for CIB3 (if available)
TreeFam:
Gene Tree for CIB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CIB3: view image

Paralogs for CIB3 Gene

Paralogs for CIB3 Gene

(7) SIMAP similar genes for CIB3 Gene using alignment to 6 proteins:

  • CIB3_HUMAN
  • E7EUX1_HUMAN
  • M0QZ29_HUMAN
  • Q6ISP1_HUMAN
  • Q6NT26_HUMAN
  • Q6NT60_HUMAN
genes like me logo Genes that share paralogs with CIB3: view

Variants for CIB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CIB3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs6512087 - p.Gly139Glu

Additional dbSNP identifiers (rs#s) for CIB3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CIB3 Gene

Variant ID Type Subtype PubMed ID
esv3643791 CNV loss 21293372
nsv833767 CNV loss 17160897

Variation tolerance for CIB3 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CIB3 Gene

Human Gene Mutation Database (HGMD)
CIB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIB3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIB3 Gene

Disorders for CIB3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CIB3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 48
  • dfnb48
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
usher syndrome, type i
  • ush1
- elite association - COSMIC cancer census association via MalaCards
Search CIB3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CIB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CIB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CIB3 Gene

Publications for CIB3 Gene

  1. 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 54
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54
  3. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PMID: 21085059) Israni A … DeKAF Investigators (Transplantation 2010) 41 54
  4. Structural and biochemical characterization of CIB1 delineates a new family of EF-hand-containing proteins. (PMID: 15574431) Gentry HR … Parise LV (The Journal of biological chemistry 2005) 3 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54

Products for CIB3 Gene

Sources for CIB3 Gene