UniProtKB - O75838 (CIB2_HUMAN)
Calcium and integrin-binding family member 2
CIB2
Functioni
Miscellaneous
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 116 – 127 | 1CuratedAdd BLAST | 12 | |
Calcium bindingi | 157 – 168 | 2CuratedAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: UniProtKB
- magnesium ion binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- calcium ion homeostasis Source: UniProtKB
- cellular response to ATP Source: UniProtKB
- photoreceptor cell maintenance Source: UniProtKB
- positive regulation of cytosolic calcium ion concentration Source: UniProtKB
Keywordsi
Ligand | Calcium, Magnesium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | O75838 |
Names & Taxonomyi
Protein namesi | Recommended name: Calcium and integrin-binding family member 2Alternative name(s): Kinase-interacting protein 2 Short name: KIP 2 |
Gene namesi | Name:CIB2 Synonyms:KIP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24579, CIB2 |
MIMi | 605564, gene |
neXtProti | NX_O75838 |
VEuPathDBi | HostDB:ENSG00000136425.12 |
Subcellular locationi
Plasma membrane
- sarcolemma By similarity
Cytoplasm and Cytosol
- Cytoplasm By similarity
Other locations
- stereocilium 2 Publications
- Photoreceptor inner segment By similarity
- photoreceptor outer segment By similarity
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).By similarity2 Publications
Cytoskeleton
- cuticular plate Source: UniProtKB
Extracellular region or secreted
- blood microparticle Source: UniProtKB
Plasma Membrane
- sarcolemma Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB
- photoreceptor inner segment Source: UniProtKB
- photoreceptor outer segment Source: UniProtKB
- stereocilium Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 48 (DFNB48)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074552 | 66 | R → W in DFNB48; unknown pathological significance; no loss on localization to stereocilia; does not affect ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs780168150Ensembl. | 1 | |
Natural variantiVAR_069087 | 91 | F → S in DFNB48; no loss on localization to stereocilia; does not affect ATP-induced calcium release;. 3 PublicationsCorresponds to variant dbSNP:rs397515411EnsemblClinVar. | 1 | |
Natural variantiVAR_069088 | 99 | C → W in DFNB48; inhibits the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs370965183EnsemblClinVar. | 1 | |
Natural variantiVAR_069089 | 123 | I → T in DFNB48; stimulates the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs397515412EnsemblClinVar. | 1 | |
Natural variantiVAR_077559 | 186 | R → W in DFNB48; does not affect the localization in the cuticular plate or to the tip of stereocilia; inhibits the ability to decrease ATP-induced calcium release; does not affect binding with WHRN. 1 PublicationCorresponds to variant dbSNP:rs370359511EnsemblClinVar. | 1 |
Usher syndrome 1J (USH1J)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069086 | 64 | E → D in USH1J. 1 PublicationCorresponds to variant dbSNP:rs145415848EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafness, Retinitis pigmentosa, Usher syndromeOrganism-specific databases
DisGeNETi | 10518 |
GeneReviewsi | CIB2 |
MalaCardsi | CIB2 |
MIMi | 609439, phenotype 614869, phenotype |
OpenTargetsi | ENSG00000136425 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 231169, Usher syndrome type 1 |
PharmGKBi | PA134927274 |
Miscellaneous databases
Pharosi | O75838, Tbio |
Chemistry databases
DrugBanki | DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate |
Genetic variation databases
BioMutai | CIB2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073534 | 1 – 187 | Calcium and integrin-binding family member 2Add BLAST | 187 |
Proteomic databases
jPOSTi | O75838 |
PaxDbi | O75838 |
PeptideAtlasi | O75838 |
PRIDEi | O75838 |
ProteomicsDBi | 40171 50222 [O75838-1] 58377 |
PTM databases
iPTMneti | O75838 |
PhosphoSitePlusi | O75838 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136425, Expressed in right atrium auricular region and 232 other tissues |
ExpressionAtlasi | O75838, baseline and differential |
Genevisiblei | O75838, HS |
Organism-specific databases
HPAi | ENSG00000136425, Tissue enhanced (heart muscle, intestine) |
Interactioni
Subunit structurei
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).
3 PublicationsGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115773, 16 interactors |
IntActi | O75838, 1 interactor |
STRINGi | 9606.ENSP00000258930 |
Miscellaneous databases
RNActi | O75838, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 66 – 101 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 103 – 138 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 144 – 179 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 36 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0038, Eukaryota |
GeneTreei | ENSGT00940000157327 |
HOGENOMi | CLU_061288_6_0_1 |
InParanoidi | O75838 |
OrthoDBi | 1271942at2759 |
PhylomeDBi | O75838 |
TreeFami | TF313865 |
Family and domain databases
CDDi | cd00051, EFh, 1 hit |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit |
SMARTi | View protein in SMART SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 3 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGNKQTIFTE EQLDNYQDCT FFNKKDILKL HSRFYELAPN LVPMDYRKSP
60 70 80 90 100
IVHVPMSLII QMPELRENPF KERIVAAFSE DGEGNLTFND FVDMFSVLCE
110 120 130 140 150
SAPRELKANY AFKIYDFNTD NFICKEDLEL TLARLTKSEL DEEEVVLVCD
160 170 180
KVIEEADLDG DGKLGFADFE DMIAKAPDFL STFHIRI
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YKC8 | H0YKC8_HUMAN | Calcium and integrin-binding family... | CIB2 | 167 | Annotation score: | ||
H0YKX8 | H0YKX8_HUMAN | Calcium and integrin-binding family... | CIB2 | 147 | Annotation score: | ||
H0YLL7 | H0YLL7_HUMAN | Calcium and integrin-binding family... | CIB2 | 126 | Annotation score: | ||
H0YND4 | H0YND4_HUMAN | Calcium and integrin-binding family... | CIB2 | 92 | Annotation score: | ||
H0YLX3 | H0YLX3_HUMAN | Calcium and integrin-binding family... | CIB2 | 54 | Annotation score: | ||
H0YML3 | H0YML3_HUMAN | Calcium and integrin-binding family... | CIB2 | 48 | Annotation score: | ||
A0A2R8Y4Y2 | A0A2R8Y4Y2_HUMAN | Calcium and integrin-binding family... | CIB2 | 63 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069086 | 64 | E → D in USH1J. 1 PublicationCorresponds to variant dbSNP:rs145415848EnsemblClinVar. | 1 | |
Natural variantiVAR_074552 | 66 | R → W in DFNB48; unknown pathological significance; no loss on localization to stereocilia; does not affect ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs780168150Ensembl. | 1 | |
Natural variantiVAR_080825 | 75 | V → M Found in a family with deafness carrying a likely pathogenic mutation in PDZD7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758743502EnsemblClinVar. | 1 | |
Natural variantiVAR_069087 | 91 | F → S in DFNB48; no loss on localization to stereocilia; does not affect ATP-induced calcium release;. 3 PublicationsCorresponds to variant dbSNP:rs397515411EnsemblClinVar. | 1 | |
Natural variantiVAR_069088 | 99 | C → W in DFNB48; inhibits the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs370965183EnsemblClinVar. | 1 | |
Natural variantiVAR_069089 | 123 | I → T in DFNB48; stimulates the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs397515412EnsemblClinVar. | 1 | |
Natural variantiVAR_077559 | 186 | R → W in DFNB48; does not affect the localization in the cuticular plate or to the tip of stereocilia; inhibits the ability to decrease ATP-induced calcium release; does not affect binding with WHRN. 1 PublicationCorresponds to variant dbSNP:rs370359511EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053863 | 1 – 43 | Missing in isoform 3. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_054777 | 18 – 66 | Missing in isoform 4. CuratedAdd BLAST | 49 | |
Alternative sequenceiVSP_053864 | 181 – 187 | STFHIRI → RCCHYRGRAWAGQSRAGRDV GAEAPITRYL in isoform 2. 1 Publication | 7 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB012955 mRNA Translation: BAA33584.1 AK293167 mRNA Translation: BAG56711.1 AC090260 Genomic DNA No translation available. CH471136 Genomic DNA Translation: EAW99183.1 CH471136 Genomic DNA Translation: EAW99184.1 CH471136 Genomic DNA Translation: EAW99186.1 BC033108 mRNA Translation: AAH33108.1 BC047381 mRNA Translation: AAH47381.1 |
CCDSi | CCDS10296.1 [O75838-1] CCDS61722.1 [O75838-3] CCDS61723.1 [O75838-4] |
RefSeqi | NP_001258817.1, NM_001271888.1 [O75838-3] NP_001258818.1, NM_001271889.1 [O75838-4] NP_001288153.1, NM_001301224.1 NP_006374.1, NM_006383.3 [O75838-1] XP_005254183.1, XM_005254126.3 [O75838-2] XP_006720437.1, XM_006720374.2 [O75838-3] |
Genome annotation databases
Ensembli | ENST00000258930; ENSP00000258930; ENSG00000136425 [O75838-1] ENST00000539011; ENSP00000442459; ENSG00000136425 [O75838-3] ENST00000557846; ENSP00000453488; ENSG00000136425 [O75838-4] |
GeneIDi | 10518 |
KEGGi | hsa:10518 |
UCSCi | uc002bdb.3, human [O75838-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB012955 mRNA Translation: BAA33584.1 AK293167 mRNA Translation: BAG56711.1 AC090260 Genomic DNA No translation available. CH471136 Genomic DNA Translation: EAW99183.1 CH471136 Genomic DNA Translation: EAW99184.1 CH471136 Genomic DNA Translation: EAW99186.1 BC033108 mRNA Translation: AAH33108.1 BC047381 mRNA Translation: AAH47381.1 |
CCDSi | CCDS10296.1 [O75838-1] CCDS61722.1 [O75838-3] CCDS61723.1 [O75838-4] |
RefSeqi | NP_001258817.1, NM_001271888.1 [O75838-3] NP_001258818.1, NM_001271889.1 [O75838-4] NP_001288153.1, NM_001301224.1 NP_006374.1, NM_006383.3 [O75838-1] XP_005254183.1, XM_005254126.3 [O75838-2] XP_006720437.1, XM_006720374.2 [O75838-3] |
3D structure databases
SMRi | O75838 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115773, 16 interactors |
IntActi | O75838, 1 interactor |
STRINGi | 9606.ENSP00000258930 |
Chemistry databases
DrugBanki | DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate |
PTM databases
iPTMneti | O75838 |
PhosphoSitePlusi | O75838 |
Genetic variation databases
BioMutai | CIB2 |
Proteomic databases
jPOSTi | O75838 |
PaxDbi | O75838 |
PeptideAtlasi | O75838 |
PRIDEi | O75838 |
ProteomicsDBi | 40171 50222 [O75838-1] 58377 |
Protocols and materials databases
Antibodypediai | 14987, 202 antibodies |
DNASUi | 10518 |
Genome annotation databases
Ensembli | ENST00000258930; ENSP00000258930; ENSG00000136425 [O75838-1] ENST00000539011; ENSP00000442459; ENSG00000136425 [O75838-3] ENST00000557846; ENSP00000453488; ENSG00000136425 [O75838-4] |
GeneIDi | 10518 |
KEGGi | hsa:10518 |
UCSCi | uc002bdb.3, human [O75838-1] |
Organism-specific databases
CTDi | 10518 |
DisGeNETi | 10518 |
GeneCardsi | CIB2 |
GeneReviewsi | CIB2 |
HGNCi | HGNC:24579, CIB2 |
HPAi | ENSG00000136425, Tissue enhanced (heart muscle, intestine) |
MalaCardsi | CIB2 |
MIMi | 605564, gene 609439, phenotype 614869, phenotype |
neXtProti | NX_O75838 |
OpenTargetsi | ENSG00000136425 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 231169, Usher syndrome type 1 |
PharmGKBi | PA134927274 |
VEuPathDBi | HostDB:ENSG00000136425.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0038, Eukaryota |
GeneTreei | ENSGT00940000157327 |
HOGENOMi | CLU_061288_6_0_1 |
InParanoidi | O75838 |
OrthoDBi | 1271942at2759 |
PhylomeDBi | O75838 |
TreeFami | TF313865 |
Enzyme and pathway databases
PathwayCommonsi | O75838 |
Miscellaneous databases
BioGRID-ORCSi | 10518, 7 hits in 997 CRISPR screens |
ChiTaRSi | CIB2, human |
GenomeRNAii | 10518 |
Pharosi | O75838, Tbio |
PROi | PR:O75838 |
RNActi | O75838, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136425, Expressed in right atrium auricular region and 232 other tissues |
ExpressionAtlasi | O75838, baseline and differential |
Genevisiblei | O75838, HS |
Family and domain databases
CDDi | cd00051, EFh, 1 hit |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit |
SMARTi | View protein in SMART SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CIB2_HUMAN | |
Accessioni | O75838Primary (citable) accession number: O75838 Secondary accession number(s): B4DDF0, H0YM71, Q05BT6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 11, 2001 |
Last sequence update: | November 1, 1998 | |
Last modified: | April 7, 2021 | |
This is version 166 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot