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Protein

Calcium and integrin-binding family member 2

Gene

CIB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium-binding protein critical for proper photoreceptor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi116 – 127121CuratedAdd
BLAST
Calcium bindingi157 – 168122CuratedAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, 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
ProteomesiUP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:24579. CIB2.

Subcellular locationi

  • Photoreceptor inner segment By similarity
  • Cell membranesarcolemma By similarity

  • Note: Expressed in inner and outer segments of photoreceptor cells, as well as in the pigmented epithelium. Also observed in the inner and outer plexiform layers and in the ganglion cell layer. Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 48 (DFNB48)1 Publication

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911F → S in DFNB48. 1 Publication
VAR_069087
Natural varianti99 – 991C → W in DFNB48. 1 Publication
VAR_069088
Natural varianti123 – 1231I → T in DFNB48. 1 Publication
VAR_069089
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641E → D in USH1J. 1 Publication
VAR_069086

Keywords - Diseasei

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

Organism-specific databases

MIMi609439. phenotype.
614869. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA134927274.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 187187Calcium and integrin-binding family member 2PRO_0000073534Add
BLAST

Proteomic databases

PaxDbiO75838.
PRIDEiO75838.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiO75838.
CleanExiHS_CIB2.
ExpressionAtlasiO75838. baseline and differential.
GenevisibleiO75838. HS.

Organism-specific databases

HPAiHPA036697.
HPA056862.

Interactioni

Subunit structurei

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.1 Publication

Protein-protein interaction databases

BioGridi115773. 1 interaction.
STRINGi9606.ENSP00000258930.

Structurei

3D structure databases

ProteinModelPortaliO75838.
SMRiO75838. Positions 8-185.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini66 – 10136EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini103 – 13836EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini144 – 17936EF-hand 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5126.
GeneTreeiENSGT00760000119179.
HOGENOMiHOG000233019.
HOVERGENiHBG107344.
InParanoidiO75838.
OMAiLVPMDYT.
OrthoDBiEOG7KM5V7.
PhylomeDBiO75838.
TreeFamiTF313865.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641E → D in USH1J. 1 Publication
VAR_069086
Natural varianti91 – 911F → S in DFNB48. 1 Publication
VAR_069087
Natural varianti99 – 991C → W in DFNB48. 1 Publication
VAR_069088
Natural varianti123 – 1231I → T in DFNB48. 1 Publication
VAR_069089

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4343Missing in isoform 3. 1 PublicationVSP_053863Add
BLAST
Alternative sequencei18 – 6649Missing in isoform 4. CuratedVSP_054777Add
BLAST
Alternative sequencei181 – 1877STFHIRI → RCCHYRGRAWAGQSRAGRDV GAEAPITRYL in isoform 2. 1 PublicationVSP_053864

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_005254126.2. [O75838-2]
XP_006720437.1. XM_006720374.2. [O75838-3]
UniGeneiHs.129867.

Genome annotation databases

EnsembliENST00000258930; ENSP00000258930; ENSG00000136425.
ENST00000539011; ENSP00000442459; ENSG00000136425. [O75838-3]
ENST00000557846; ENSP00000453488; ENSG00000136425. [O75838-4]
GeneIDi10518.
KEGGihsa:10518.
UCSCiuc002bdb.2. human. [O75838-1]
uc010ums.2. human.

Keywords - Coding sequence diversityi

Alternative splicing

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.
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_005254126.2. [O75838-2]
XP_006720437.1. XM_006720374.2. [O75838-3]
UniGeneiHs.129867.

3D structure databases

ProteinModelPortaliO75838.
SMRiO75838. Positions 8-185.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115773. 1 interaction.
STRINGi9606.ENSP00000258930.

Proteomic databases

PaxDbiO75838.
PRIDEiO75838.

Protocols and materials databases

DNASUi10518.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258930; ENSP00000258930; ENSG00000136425.
ENST00000539011; ENSP00000442459; ENSG00000136425. [O75838-3]
ENST00000557846; ENSP00000453488; ENSG00000136425. [O75838-4]
GeneIDi10518.
KEGGihsa:10518.
UCSCiuc002bdb.2. human. [O75838-1]
uc010ums.2. human.

Organism-specific databases

CTDi10518.
GeneCardsiGC15M078396.
GeneReviewsiCIB2.
HGNCiHGNC:24579. CIB2.
HPAiHPA036697.
HPA056862.
MIMi605564. gene.
609439. phenotype.
614869. phenotype.
neXtProtiNX_O75838.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA134927274.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5126.
GeneTreeiENSGT00760000119179.
HOGENOMiHOG000233019.
HOVERGENiHBG107344.
InParanoidiO75838.
OMAiLVPMDYT.
OrthoDBiEOG7KM5V7.
PhylomeDBiO75838.
TreeFamiTF313865.

Miscellaneous databases

GenomeRNAii10518.
NextBioi35470914.
PROiO75838.
SOURCEiSearch...

Gene expression databases

BgeeiO75838.
CleanExiHS_CIB2.
ExpressionAtlasiO75838. baseline and differential.
GenevisibleiO75838. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene."
    Seki N., Hattori A., Hayashi A., Kozuma S., Ohira M., Hori T., Saito T.
    Biochim. Biophys. Acta 1444:143-147(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Brain and Skin.
  6. "Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences."
    Huang H., Bogstie J.N., Vogel H.J.
    Biochem. Cell Biol. 90:646-656(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ITGA2B AND ITGA7, CALCIUM-BINDING, MAGNESIUM-BINDING.
  7. Cited for: VARIANTS DFNB48 SER-91; TRP-99 AND THR-123, VARIANT USH1J ASP-64.

Entry informationi

Entry nameiCIB2_HUMAN
AccessioniPrimary (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: July 22, 2015
This is version 127 of the entry and version 1 of the sequence. [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

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).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.