Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (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

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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
MIRT893415	hsa-miR-3188	CLIP-seq
MIRT893416	hsa-miR-3908	CLIP-seq
MIRT893417	hsa-miR-3975	CLIP-seq
MIRT893418	hsa-miR-4267	CLIP-seq
MIRT893419	hsa-miR-4316	CLIP-seq
MIRT893420	hsa-miR-4519	CLIP-seq
MIRT893421	hsa-miR-4532	CLIP-seq
MIRT893422	hsa-miR-4632	CLIP-seq
MIRT893423	hsa-miR-4689	CLIP-seq
MIRT893424	hsa-miR-4710	CLIP-seq
MIRT893425	hsa-miR-4732-3p	CLIP-seq
MIRT893426	hsa-miR-4784	CLIP-seq
MIRT893427	hsa-miR-485-5p	CLIP-seq
MIRT893428	hsa-miR-549	CLIP-seq
MIRT1964820	hsa-miR-1538	CLIP-seq
MIRT1964821	hsa-miR-192	CLIP-seq
MIRT1964822	hsa-miR-215	CLIP-seq
MIRT1964823	hsa-miR-3187-3p	CLIP-seq
MIRT1964824	hsa-miR-328	CLIP-seq
MIRT1964825	hsa-miR-4435	CLIP-seq
MIRT1964826	hsa-miR-4438	CLIP-seq
MIRT1964827	hsa-miR-4453	CLIP-seq
MIRT1964828	hsa-miR-4505	CLIP-seq
MIRT1964829	hsa-miR-4538	CLIP-seq
MIRT1964830	hsa-miR-4640-5p	CLIP-seq
MIRT1964831	hsa-miR-4645-5p	CLIP-seq
MIRT1964832	hsa-miR-4673	CLIP-seq
MIRT1964833	hsa-miR-4701-5p	CLIP-seq
MIRT1964834	hsa-miR-4726-5p	CLIP-seq
MIRT1964835	hsa-miR-4745-3p	CLIP-seq
MIRT1964836	hsa-miR-548s	CLIP-seq
MIRT1964837	hsa-miR-588	CLIP-seq
MIRT893416	hsa-miR-3908	CLIP-seq
MIRT893413	hsa-miR-2467-5p	CLIP-seq
MIRT893415	hsa-miR-3188	CLIP-seq
MIRT893417	hsa-miR-3975	CLIP-seq
MIRT893419	hsa-miR-4316	CLIP-seq
MIRT893421	hsa-miR-4532	CLIP-seq
MIRT893422	hsa-miR-4632	CLIP-seq
MIRT893424	hsa-miR-4710	CLIP-seq
MIRT893427	hsa-miR-485-5p	CLIP-seq
MIRT1964820	hsa-miR-1538	CLIP-seq
MIRT1964821	hsa-miR-192	CLIP-seq
MIRT2503714	hsa-miR-214	CLIP-seq
MIRT1964822	hsa-miR-215	CLIP-seq
MIRT893413	hsa-miR-2467-5p	CLIP-seq
MIRT2503715	hsa-miR-3128	CLIP-seq
MIRT1964823	hsa-miR-3187-3p	CLIP-seq
MIRT893415	hsa-miR-3188	CLIP-seq
MIRT1964824	hsa-miR-328	CLIP-seq
MIRT2503716	hsa-miR-3619-5p	CLIP-seq
MIRT893417	hsa-miR-3975	CLIP-seq
MIRT893418	hsa-miR-4267	CLIP-seq
MIRT2503717	hsa-miR-4291	CLIP-seq
MIRT893419	hsa-miR-4316	CLIP-seq
MIRT2503718	hsa-miR-432	CLIP-seq
MIRT1964825	hsa-miR-4435	CLIP-seq
MIRT1964826	hsa-miR-4438	CLIP-seq
MIRT1964827	hsa-miR-4453	CLIP-seq
MIRT1964828	hsa-miR-4505	CLIP-seq
MIRT893421	hsa-miR-4532	CLIP-seq
MIRT1964829	hsa-miR-4538	CLIP-seq
MIRT893422	hsa-miR-4632	CLIP-seq
MIRT1964830	hsa-miR-4640-5p	CLIP-seq
MIRT1964831	hsa-miR-4645-5p	CLIP-seq
MIRT1964832	hsa-miR-4673	CLIP-seq
MIRT1964833	hsa-miR-4701-5p	CLIP-seq
MIRT893424	hsa-miR-4710	CLIP-seq
MIRT1964834	hsa-miR-4726-5p	CLIP-seq
MIRT1964835	hsa-miR-4745-3p	CLIP-seq
MIRT893427	hsa-miR-485-5p	CLIP-seq
MIRT1964836	hsa-miR-548s	CLIP-seq
MIRT893428	hsa-miR-549	CLIP-seq
MIRT1964837	hsa-miR-588	CLIP-seq
MIRT2503719	hsa-miR-761	CLIP-seq
MIRT2503720	hsa-miR-922	CLIP-seq
MIRT2503721	hsa-miR-936	CLIP-seq
MIRT1964820	hsa-miR-1538	CLIP-seq
MIRT1964821	hsa-miR-192	CLIP-seq
MIRT2503714	hsa-miR-214	CLIP-seq
MIRT1964822	hsa-miR-215	CLIP-seq
MIRT893413	hsa-miR-2467-5p	CLIP-seq
MIRT2503715	hsa-miR-3128	CLIP-seq
MIRT1964823	hsa-miR-3187-3p	CLIP-seq
MIRT893415	hsa-miR-3188	CLIP-seq
MIRT1964824	hsa-miR-328	CLIP-seq
MIRT2503716	hsa-miR-3619-5p	CLIP-seq
MIRT893417	hsa-miR-3975	CLIP-seq
MIRT893418	hsa-miR-4267	CLIP-seq
MIRT2503717	hsa-miR-4291	CLIP-seq
MIRT893419	hsa-miR-4316	CLIP-seq
MIRT2503718	hsa-miR-432	CLIP-seq
MIRT1964825	hsa-miR-4435	CLIP-seq
MIRT1964826	hsa-miR-4438	CLIP-seq
MIRT1964827	hsa-miR-4453	CLIP-seq
MIRT1964828	hsa-miR-4505	CLIP-seq
MIRT2678205	hsa-miR-4520a-3p	CLIP-seq
MIRT2678206	hsa-miR-4520b-3p	CLIP-seq
MIRT893421	hsa-miR-4532	CLIP-seq
MIRT1964829	hsa-miR-4538	CLIP-seq
MIRT893422	hsa-miR-4632	CLIP-seq
MIRT1964830	hsa-miR-4640-5p	CLIP-seq
MIRT1964831	hsa-miR-4645-5p	CLIP-seq
MIRT1964832	hsa-miR-4673	CLIP-seq
MIRT1964833	hsa-miR-4701-5p	CLIP-seq
MIRT893424	hsa-miR-4710	CLIP-seq
MIRT1964834	hsa-miR-4726-5p	CLIP-seq
MIRT1964835	hsa-miR-4745-3p	CLIP-seq
MIRT893427	hsa-miR-485-5p	CLIP-seq
MIRT1964836	hsa-miR-548s	CLIP-seq
MIRT893428	hsa-miR-549	CLIP-seq
MIRT1964837	hsa-miR-588	CLIP-seq
MIRT2503719	hsa-miR-761	CLIP-seq
MIRT2503720	hsa-miR-922	CLIP-seq
MIRT2503721	hsa-miR-936	CLIP-seq

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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
GO:0001954	Process	Positive regulation of cell-matrix adhesion	ISS
GO:0002931	Process	Response to ischemia	IEA
GO:0002931	Process	Response to ischemia	ISS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	IMP	15475008
GO:0005515	Function	Protein binding	IPI	10366599, 12011095, 15685448, 16582881, 19805025, 19854831, 20639889, 20951827, 21215777, 21264284, 22779914, 24011356, 30068544, 32296183, 32814053, 32917726
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11756406, 30068544
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IMP	10366599
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11756406, 19854831, 20639889, 21215777
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	10366599
GO:0005783	Component	Endoplasmic reticulum	IMP	10366599
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	20951827
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	19854831, 20473878
GO:0005886	Component	Plasma membrane	IEA
GO:0006302	Process	Double-strand break repair	TAS	9372844
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	10366599
GO:0006974	Process	DNA damage response	IDA	12011095
GO:0007026	Process	Negative regulation of microtubule depolymerization	IDA	21215777
GO:0007113	Process	Endomitotic cell cycle	IDA	21264284
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9030514
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	21264284
GO:0008427	Function	Calcium-dependent protein kinase inhibitor activity	IMP	20473878
GO:0010977	Process	Negative regulation of neuron projection development	IDA	21215777
GO:0016020	Component	Membrane	IDA	10366599
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030027	Component	Lamellipodium	IDA	21215777
GO:0030027	Component	Lamellipodium	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030220	Process	Platelet formation	IEA
GO:0030220	Process	Platelet formation	ISS
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IDA	20473878
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0030307	Process	Positive regulation of cell growth	ISS
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0030424	Component	Axon	IBA
GO:0030426	Component	Growth cone	IDA	21215777
GO:0030426	Component	Growth cone	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IMP	20951827
GO:0031267	Function	Small GTPase binding	IPI	11756406
GO:0031982	Component	Vesicle	HDA	19190083
GO:0032433	Component	Filopodium tip	IDA	20951827
GO:0032433	Component	Filopodium tip	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IDA	11756406
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IEA
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	ISS
GO:0042127	Process	Regulation of cell population proliferation	IMP	20951827
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IDA	20639889
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	21215777
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IDA	21215777
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	19854831
GO:0043085	Process	Positive regulation of catalytic activity	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IBA
GO:0043495	Function	Protein-membrane adaptor activity	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IGI	20639889
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045653	Process	Negative regulation of megakaryocyte differentiation	IEA
GO:0045653	Process	Negative regulation of megakaryocyte differentiation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11756406
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	19854831
GO:0051301	Process	Cell division	IEA
GO:0051302	Process	Regulation of cell division	IMP	20951827
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IBA
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IDA	20639889
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	19854831
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	ISS
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	ISS
GO:0071944	Component	Cell periphery	IDA	11756406, 20951827
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	ISS
GO:0090314	Process	Positive regulation of protein targeting to membrane	IMP	19854831
GO:0097191	Process	Extrinsic apoptotic signaling pathway	TAS	19805025
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	11756406
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IBA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IGI	20639889
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IDA	21215777
GO:2000256	Process	Positive regulation of male germ cell proliferation	IEA
GO:2000256	Process	Positive regulation of male germ cell proliferation	ISS

MIM	HGNC	e!Ensembl
602293	16920	ENSG00000185043

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epidermodysplasia verruciformis, susceptibility to, 3	Likely pathogenic; Pathogenic	rs914933274, rs143773090	RCV003990538 RCV000735848

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CIB1-related disorder	Likely benign; Benign; Uncertain significance	rs200574955, rs1044813, rs562237879, rs144124621, rs2505971977, rs375148975, rs375773452, rs4451921, rs34645714, rs34958365	RCV003956105 RCV003983940 RCV003940927 RCV003980478 RCV003419008 RCV003902190 RCV003933967 RCV003970678 RCV003940432 RCV003920546
Familial cancer of breast	Benign	rs1044813	RCV005914462
Hepatocellular carcinoma	Benign	rs1044813	RCV005914463
Uterine carcinosarcoma	Benign	rs1044813	RCV005914464

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	15685448
Breast Neoplasms	Stimulate	20473878
Breast Neoplasms	Associate	22964641
Carcinoma Pancreatic Ductal	Associate	37187730
Carcinoma Renal Cell	Associate	35812454
Cardiovascular Diseases	Associate	39426048
Cell Transformation Neoplastic	Stimulate	27941888
Chronic Pain	Stimulate	33243782
Colorectal Neoplasms	Associate	34794407
COVID 19	Associate	37020555
Epidermodysplasia Verruciformis	Associate	30068544, 30068545, 32917957, 35154113, 36602881
Hemorrhage	Associate	16582881
Hypoxia	Stimulate	37187730
Immune System Diseases	Associate	35154113
Infections	Associate	24550731
Infertility Male	Associate	37020555, 39426048
Neoplasm Metastasis	Associate	34794407
Neoplasms	Associate	22964641, 27941888, 39426048
Neoplasms	Stimulate	37187730
Pain	Stimulate	33243782
Thrombocytopenia 1	Associate	25200405
Thrombosis	Associate	35955827
Virus Diseases	Associate	27489023

CIB1 (calcium and integrin binding 1)