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O75838

- CIB2_HUMAN

UniProt

O75838 - CIB2_HUMAN

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Protein

Calcium and integrin-binding family member 2

Gene
CIB2, KIP2
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi116 – 127121 InferredAdd
BLAST
Calcium bindingi157 – 168122 InferredAdd
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
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: 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.

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
Complete GO annotation...

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

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 3 EF-hand domains.

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. VSP_053863Add
BLAST
Alternative sequencei18 – 6649Missing in isoform 4. VSP_054777Add
BLAST
Alternative sequencei181 – 1877STFHIRI → RCCHYRGRAWAGQSRAGRDV GAEAPITRYL in isoform 2. VSP_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.
ENST00000539011; ENSP00000442459; ENSG00000136425.
ENST00000557846; ENSP00000453488; ENSG00000136425.
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 .
ENST00000539011 ; ENSP00000442459 ; ENSG00000136425 .
ENST00000557846 ; ENSP00000453488 ; ENSG00000136425 .
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

« 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: September 3, 2014
This is version 118 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

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