Gene Gene information from NCBI Gene database.
Entrez ID 10519
Gene name Calcium and integrin binding 1
Gene symbol CIB1
Synonyms (NCBI Gene)
CIBCIBPEV3KIP1PRKDCIPSIP2-28
Chromosome 15
Chromosome location 15q26.1
Summary This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion k
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs143773090 G>A Risk-factor Non coding transcript variant, coding sequence variant, stop gained
rs1323557941 TT>- Risk-factor Coding sequence variant, frameshift variant, non coding transcript variant
rs1351703532 ->AA Risk-factor Frameshift variant, non coding transcript variant, coding sequence variant
rs1567068388 ->C Risk-factor Splice donor variant
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT029584 hsa-miR-26b-5p Microarray 19088304
MIRT031749 hsa-miR-16-5p Proteomics 18668040
MIRT893412 hsa-miR-1291 CLIP-seq
MIRT893413 hsa-miR-2467-5p CLIP-seq
MIRT893414 hsa-miR-3150b-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
120
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA
GO:0001525 Process Angiogenesis IEA
GO:0001933 Process Negative regulation of protein phosphorylation ISS
GO:0001934 Process Positive regulation of protein phosphorylation ISS
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602293 16920 ENSG00000185043
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99828
Protein name Calcium and integrin-binding protein 1 (CIB) (Calcium- and integrin-binding protein) (CIBP) (Calmyrin) (DNA-PKcs-interacting protein) (Kinase-interacting protein) (KIP) (SNK-interacting protein 2-28) (SIP2-28)
Protein function Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in
PDB 1DGU , 1DGV , 1XO5 , 1Y1A , 2L4H , 2L4I , 2LM5 , 6OCX , 6OD0
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Expressed in the epidermis, hair follicles and keratinocytes (PubMed:30068544). Detected in platelets and in cell lines of megakaryocytic and erythrocytic lineages. Both isoform 1 and isoform 2 are detected in v
Sequence
MGGSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILS
LPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDD
GTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRS
PDFASSFKIVL
Sequence length 191
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epidermodysplasia verruciformis, susceptibility to, 3 Likely pathogenic; Pathogenic rs914933274, rs143773090 RCV003990538
RCV000735848
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CIB1-related disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPIDERMODYSPLASIA VERRUCIFORMIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 20530095
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 8605354, 8640833
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15936816
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12670508, 15014027, 18172308, 20059402
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11557114, 21285982
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 25053516
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 12210483, 18415709, 9927492
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19318494, 26695862
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 18317952
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 8640833
★☆☆☆☆
Found in Text Mining only