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O75838 (CIB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Calcium and integrin-binding family member 2
Alternative name(s):
Kinase-interacting protein 2
Short name=KIP 2
Gene names
Name:CIB2
Synonyms:KIP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length187 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.6

Subcellular location

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.

Tissue specificity

Ubiquitous.

Involvement in disease

Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Usher syndrome 1J (USH1J) [MIM:614869]: USH 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

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).

Sequence similarities

Contains 3 EF-hand domains.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75838-1)

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.
Isoform 2 (identifier: O75838-2)

The sequence of this isoform differs from the canonical sequence as follows:
     181-187: STFHIRI → RCCHYRGRAWAGQSRAGRDVGAEAPITRYL
Note: No experimental confirmation available.
Isoform 3 (identifier: O75838-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: O75838-4)

The sequence of this isoform differs from the canonical sequence as follows:
     18-66: Missing.
Note: No experimental confirmation available. Derived from EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 187187Calcium and integrin-binding family member 2
PRO_0000073534

Regions

Domain66 – 10136EF-hand 1
Domain103 – 13836EF-hand 2
Domain144 – 17936EF-hand 3
Calcium binding116 – 127121 Probable
Calcium binding157 – 168122 Probable

Natural variations

Alternative sequence1 – 4343Missing in isoform 3.
VSP_053863
Alternative sequence18 – 6649Missing in isoform 4.
VSP_054777
Alternative sequence181 – 1877STFHIRI → RCCHYRGRAWAGQSRAGRDV GAEAPITRYL in isoform 2.
VSP_053864
Natural variant641E → D in USH1J. Ref.7
VAR_069086
Natural variant911F → S in DFNB48. Ref.7
VAR_069087
Natural variant991C → W in DFNB48. Ref.7
VAR_069088
Natural variant1231I → T in DFNB48. Ref.7
VAR_069089

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: D51F6C25AD381BEF

FASTA18721,644
        10         20         30         40         50         60 
MGNKQTIFTE EQLDNYQDCT FFNKKDILKL HSRFYELAPN LVPMDYRKSP IVHVPMSLII 

        70         80         90        100        110        120 
QMPELRENPF KERIVAAFSE DGEGNLTFND FVDMFSVLCE SAPRELKANY AFKIYDFNTD 

       130        140        150        160        170        180 
NFICKEDLEL TLARLTKSEL DEEEVVLVCD KVIEEADLDG DGKLGFADFE DMIAKAPDFL 


STFHIRI 

« Hide

Isoform 2 [UniParc].

Checksum: 5C822643EFE0C40D
Show »

FASTA21024,148
Isoform 3 [UniParc].

Checksum: 37208962BFBA51D4
Show »

FASTA14416,511
Isoform 4 [UniParc].

Checksum: 0813591C37CE8528
Show »

FASTA13815,816

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48."
Riazuddin S., Belyantseva I.A., Giese A.P., Lee K., Indzhykulian A.A., Nandamuri S.P., Yousaf R., Sinha G.P., Lee S., Terrell D., Hegde R.S., Ali R.A., Anwar S., Andrade-Elizondo P.B., Sirmaci A., Parise L.V., Basit S., Wali A. expand/collapse author list , Ayub M., Ansar M., Ahmad W., Khan S.N., Akram J., Tekin M., Riazuddin S., Cook T., Buschbeck E.K., Frolenkov G.I., Leal S.M., Friedman T.B., Ahmed Z.M.
Nat. Genet. 44:1265-1271(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB48 SER-91; TRP-99 AND THR-123, VARIANT USH1J ASP-64.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10296.1.
RefSeqNP_001258817.1. NM_001271888.1. [O75838-3]
NP_001258818.1. NM_001271889.1. [O75838-4]
NP_006374.1. NM_006383.3. [O75838-1]
XP_005254183.1. XM_005254126.1. [O75838-2]
XP_006720437.1. XM_006720374.1. [O75838-3]
UniGeneHs.129867.

3D structure databases

ProteinModelPortalO75838.
SMRO75838. Positions 8-185.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000258930.

Proteomic databases

PaxDbO75838.
PRIDEO75838.

Protocols and materials databases

DNASU10518.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258930; ENSP00000258930; ENSG00000136425.
ENST00000539011; ENSP00000442459; ENSG00000136425.
ENST00000557846; ENSP00000453488; ENSG00000136425.
GeneID10518.
KEGGhsa:10518.
UCSCuc002bdb.2. human. [O75838-1]

Organism-specific databases

CTD10518.
GeneCardsGC15M078396.
GeneReviewsCIB2.
HGNCHGNC:24579. CIB2.
HPAHPA036697.
MIM605564. gene.
609439. phenotype.
614869. phenotype.
neXtProtNX_O75838.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBPA134927274.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5126.
HOVERGENHBG107344.
InParanoidO75838.
OMANFICKSD.
OrthoDBEOG7KM5V7.
PhylomeDBO75838.
TreeFamTF313865.

Gene expression databases

ArrayExpressO75838.
BgeeO75838.
CleanExHS_CIB2.
GenevestigatorO75838.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTSM00054. EFh. 2 hits.
[Graphical view]
PROSITEPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi10518.
NextBio35470914.
PROO75838.
SOURCESearch...

Entry information

Entry nameCIB2_HUMAN
AccessionPrimary (citable) accession number: O75838
Secondary accession number(s): B4DDF0, H0YM71, Q05BT6
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 1, 1998
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM