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O75838

- CIB2_HUMAN

UniProt

O75838 - CIB2_HUMAN

Protein

Calcium and integrin-binding family member 2

Gene

CIB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    1. calcium ion binding Source: Ensembl
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. calcium ion homeostasis Source: UniProtKB
    2. photoreceptor cell maintenance Source: UniProtKB

    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: 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

    1. blood microparticle Source: UniProt
    2. muscle tendon junction Source: Ensembl
    3. neuromuscular junction Source: Ensembl
    4. photoreceptor inner segment Source: UniProtKB
    5. sarcolemma Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 nonsyndromic 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

    ArrayExpressiO75838.
    BgeeiO75838.
    CleanExiHS_CIB2.
    GenevestigatoriO75838.

    Organism-specific databases

    HPAiHPA036697.

    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

    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.
    HOVERGENiHBG107344.
    InParanoidiO75838.
    OMAiNFICKSD.
    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. Align

    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

    MGNKQTIFTE EQLDNYQDCT FFNKKDILKL HSRFYELAPN LVPMDYRKSP    50
    IVHVPMSLII QMPELRENPF KERIVAAFSE DGEGNLTFND FVDMFSVLCE 100
    SAPRELKANY AFKIYDFNTD NFICKEDLEL TLARLTKSEL DEEEVVLVCD 150
    KVIEEADLDG DGKLGFADFE DMIAKAPDFL STFHIRI 187
    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:
    EMBL
    GenBank
    DDBJ
    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_006374.1. NM_006383.3. [O75838-1]
    XP_005254183.1. XM_005254126.1. [O75838-2]
    XP_006720437.1. XM_006720374.1. [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.2. human. [O75838-1]
    uc010ums.2. human.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006374.1. NM_006383.3. [O75838-1 ]
    XP_005254183.1. XM_005254126.1. [O75838-2 ]
    XP_006720437.1. XM_006720374.1. [O75838-3 ]
    UniGenei Hs.129867.

    3D structure databases

    ProteinModelPortali O75838.
    SMRi O75838. Positions 8-185.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000258930.

    Proteomic databases

    PaxDbi O75838.
    PRIDEi O75838.

    Protocols and materials databases

    DNASUi 10518.
    Structural Biology Knowledgebase Search...

    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.2. human. [O75838-1 ]
    uc010ums.2. human.

    Organism-specific databases

    CTDi 10518.
    GeneCardsi GC15M078396.
    GeneReviewsi CIB2.
    HGNCi HGNC:24579. CIB2.
    HPAi HPA036697.
    MIMi 605564. gene.
    609439. phenotype.
    614869. phenotype.
    neXtProti NX_O75838.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBi PA134927274.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5126.
    HOVERGENi HBG107344.
    InParanoidi O75838.
    OMAi NFICKSD.
    OrthoDBi EOG7KM5V7.
    PhylomeDBi O75838.
    TreeFami TF313865.

    Miscellaneous databases

    GenomeRNAii 10518.
    NextBioi 35470914.
    PROi O75838.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75838.
    Bgeei O75838.
    CleanExi HS_CIB2.
    Genevestigatori O75838.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    Pfami PF13499. EF-hand_7. 1 hit.
    [Graphical view ]
    SMARTi SM00054. EFh. 2 hits.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 2 hits.
    PS50222. EF_HAND_2. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 119 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