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Protein

Calcium and integrin-binding family member 2

Gene

CIB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). May be involved in the mechanotransduction process (By similarity).By similarity3 Publications

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) (PubMed:22779914).1 Publication

Caution

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi116 – 1271CuratedAdd BLAST12
Calcium bindingi157 – 1682CuratedAdd BLAST12

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • integrin binding Source: Ensembl
  • magnesium ion binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

LigandCalcium, Magnesium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium and integrin-binding family member 2
Alternative name(s):
Kinase-interacting protein 2
Short name:
KIP 2
Gene namesi
Name:CIB2
Synonyms:KIP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000136425.12
HGNCiHGNC:24579 CIB2
MIMi605564 gene
neXtProtiNX_O75838

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 48 (DFNB48)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies.
See also OMIM:609439
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07455266R → 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_06908791F → S in DFNB48; no loss on localization to stereocilia; does not affect ATP-induced calcium release;. 3 PublicationsCorresponds to variant dbSNP:rs397515411Ensembl.1
Natural variantiVAR_06908899C → W in DFNB48; inhibits the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs370965183Ensembl.1
Natural variantiVAR_069089123I → T in DFNB48; stimulates the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs397515412Ensembl.1
Natural variantiVAR_077559186R → 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:rs370359511Ensembl.1
Usher syndrome 1J (USH1J)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
See also OMIM:614869
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06908664E → D in USH1J. 1 PublicationCorresponds to variant dbSNP:rs145415848Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi10518
GeneReviewsiCIB2
MalaCardsiCIB2
MIMi609439 phenotype
614869 phenotype
OpenTargetsiENSG00000136425
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1
PharmGKBiPA134927274

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000735341 – 187Calcium and integrin-binding family member 2Add BLAST187

Proteomic databases

PaxDbiO75838
PeptideAtlasiO75838
PRIDEiO75838

PTM databases

iPTMnetiO75838
PhosphoSitePlusiO75838

Expressioni

Tissue specificityi

Widely expressed (PubMed:23023331).1 Publication

Gene expression databases

BgeeiENSG00000136425
CleanExiHS_CIB2
ExpressionAtlasiO75838 baseline and differential
GenevisibleiO75838 HS

Organism-specific databases

HPAiHPA036697

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 Publications

GO - Molecular functioni

  • integrin binding Source: Ensembl
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi11577316 interactors.
STRINGi9606.ENSP00000258930

Structurei

3D structure databases

ProteinModelPortaliO75838
SMRiO75838
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini66 – 101EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini103 – 138EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini144 – 179EF-hand 3PROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0038 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00860000133737
HOGENOMiHOG000233019
HOVERGENiHBG107344
InParanoidiO75838
OMAiPDCKLPL
OrthoDBiEOG091G0OJZ
PhylomeDBiO75838
TreeFamiTF313865

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 2 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 3 hits

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75838-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:187
Mass (Da):21,644
Last modified:November 1, 1998 - v1
Checksum:iD51F6C25AD381BEF
GO
Isoform 2 (identifier: O75838-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     181-187: STFHIRI → RCCHYRGRAWAGQSRAGRDVGAEAPITRYL

Note: No experimental confirmation available.
Show »
Length:210
Mass (Da):24,148
Checksum:i5C822643EFE0C40D
GO
Isoform 3 (identifier: O75838-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):16,511
Checksum:i37208962BFBA51D4
GO
Isoform 4 (identifier: O75838-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     18-66: Missing.

Note: No experimental confirmation available. Derived from EST data.
Show »
Length:138
Mass (Da):15,816
Checksum:i0813591C37CE8528
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06908664E → D in USH1J. 1 PublicationCorresponds to variant dbSNP:rs145415848Ensembl.1
Natural variantiVAR_07455266R → 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_06908791F → S in DFNB48; no loss on localization to stereocilia; does not affect ATP-induced calcium release;. 3 PublicationsCorresponds to variant dbSNP:rs397515411Ensembl.1
Natural variantiVAR_06908899C → W in DFNB48; inhibits the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs370965183Ensembl.1
Natural variantiVAR_069089123I → T in DFNB48; stimulates the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs397515412Ensembl.1
Natural variantiVAR_077559186R → 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:rs370359511Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0538631 – 43Missing in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_05477718 – 66Missing in isoform 4. CuratedAdd BLAST49
Alternative sequenceiVSP_053864181 – 187STFHIRI → RCCHYRGRAWAGQSRAGRDV GAEAPITRYL in isoform 2. 1 Publication7

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
CCDSiCCDS10296.1 [O75838-1]
CCDS61722.1 [O75838-3]
CCDS61723.1 [O75838-4]
RefSeqiNP_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]
UniGeneiHs.129867

Genome annotation databases

EnsembliENST00000258930; ENSP00000258930; ENSG00000136425 [O75838-1]
ENST00000539011; ENSP00000442459; ENSG00000136425 [O75838-3]
ENST00000557846; ENSP00000453488; ENSG00000136425 [O75838-4]
GeneIDi10518
KEGGihsa:10518
UCSCiuc002bdb.3 human [O75838-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCIB2_HUMAN
AccessioniPrimary (citable) accession number: O75838
Secondary accession number(s): B4DDF0, H0YM71, Q05BT6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 1, 1998
Last modified: March 28, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome