CIB3 (calcium and integrin binding family member 3)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 117286
Gene name Calcium and integrin binding family member 3
Gene symbol CIB3
Synonyms (NCBI Gene)
KIP3
Chromosome 19
Chromosome location 19p13.11
Summary 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 o
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA
GO:0000287 Function Magnesium ion binding IDA 22779914
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 22779914
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610645 24580 ENSG00000141977
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96Q77
Protein name Calcium and integrin-binding family member 3 (Kinase-interacting protein 3) (KIP 3)
Protein function Acts a an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Plays a role in regulating hair cell MET channel localization and function (By similarity).
PDB 6WU5 , 6WU7 , 6WUD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 105 → 174 EF-hand domain pair Domain
Sequence 
MGNKQTVFTHEQLEAYQDCTFFTRKEIMRLFYRYQDLAPQLVPLDYTTCPDVKVPYELIG
SMPELKDNPFRQRIAQVFSEDGDGHMTLDNFLDMFSVMSEMAPRDLKAYYAFKIYDFNND
DYICAWDLEQTVTKLTRGGLSAEEVSLVCEKVLDEADGDHDGRLSLEDFQNMILRAPDFL
STFHIRI
Sequence length 187
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
CHRONIC LYMPHOCYTIC LEUKEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASCAT_DG 28112199
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hodgkin Disease Hodgkin Disease GWASCAT_DG 28112199
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma GWASCAT_DG 28112199
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Small Lymphocytic Lymphoma Lymphocytic Leukemia GWASCAT_DG 28112199
★★★★★
★☆☆☆☆
Found in Text Mining only