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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi116 – 1271CuratedAdd BLAST12
Calcium bindingi157 – 1682CuratedAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Magnesium, Metal-binding

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Calcium and integrin-binding family member 2
Alternative name(s):
Kinase-interacting protein 2
Short name:
KIP 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CIB2
Synonyms:KIP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000136425.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24579 CIB2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605564 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75838

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs397515411EnsemblClinVar.1
Natural variantiVAR_06908899C → W in DFNB48; inhibits the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs370965183EnsemblClinVar.1
Natural variantiVAR_069089123I → T in DFNB48; stimulates the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs397515412EnsemblClinVar.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:rs370359511EnsemblClinVar.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:rs145415848EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
10518

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
CIB2

MalaCards human disease database

More...
MalaCardsi
CIB2
MIMi609439 phenotype
614869 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136425

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134927274

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CIB2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000735341 – 187Calcium and integrin-binding family member 2Add BLAST187

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O75838

PeptideAtlas

More...
PeptideAtlasi
O75838

PRoteomics IDEntifications database

More...
PRIDEi
O75838

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50222

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75838

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O75838

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed (PubMed:23023331).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136425 Expressed in 219 organ(s), highest expression level in right atrium auricular region

CleanEx database of gene expression profiles

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CleanExi
HS_CIB2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75838 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O75838 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036697

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115773, 16 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000258930

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75838

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75838

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0038 Eukaryota
COG5126 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157327

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000233019

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107344

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75838

Database of Orthologous Groups

More...
OrthoDBi
1271942at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O75838

TreeFam database of animal gene trees

More...
TreeFami
TF313865

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00051 EFh, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13499 EF-hand_7, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00054 EFh, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YKC8H0YKC8_HUMAN
Calcium and integrin-binding family...
CIB2
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKX8H0YKX8_HUMAN
Calcium and integrin-binding family...
CIB2
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLL7H0YLL7_HUMAN
Calcium and integrin-binding family...
CIB2
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLX3H0YLX3_HUMAN
Calcium and integrin-binding family...
CIB2
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YND4H0YND4_HUMAN
Calcium and integrin-binding family...
CIB2
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YML3H0YML3_HUMAN
Calcium and integrin-binding family...
CIB2
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4Y2A0A2R8Y4Y2_HUMAN
Calcium and integrin-binding family...
CIB2
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06908664E → D in USH1J. 1 PublicationCorresponds to variant dbSNP:rs145415848EnsemblClinVar.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_08082575V → M Found in a family with deafness carrying a likely pathogenic mutation in PDZD7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758743502Ensembl.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:rs397515411EnsemblClinVar.1
Natural variantiVAR_06908899C → W in DFNB48; inhibits the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs370965183EnsemblClinVar.1
Natural variantiVAR_069089123I → T in DFNB48; stimulates the ability to decrease ATP-induced calcium release. 1 PublicationCorresponds to variant dbSNP:rs397515412EnsemblClinVar.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:rs370359511EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS10296.1 [O75838-1]
CCDS61722.1 [O75838-3]
CCDS61723.1 [O75838-4]

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.129867

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000258930; ENSP00000258930; ENSG00000136425 [O75838-1]
ENST00000539011; ENSP00000442459; ENSG00000136425 [O75838-3]
ENST00000557846; ENSP00000453488; ENSG00000136425 [O75838-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10518

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10518

UCSC genome browser

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UCSCi
uc002bdb.3 human [O75838-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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_005254126.3 [O75838-2]
XP_006720437.1, XM_006720374.2 [O75838-3]
UniGeneiHs.129867

3D structure databases

ProteinModelPortaliO75838
SMRiO75838
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115773, 16 interactors
STRINGi9606.ENSP00000258930

PTM databases

iPTMnetiO75838
PhosphoSitePlusiO75838

Polymorphism and mutation databases

BioMutaiCIB2

Proteomic databases

PaxDbiO75838
PeptideAtlasiO75838
PRIDEiO75838
ProteomicsDBi50222

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10518
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10518
DisGeNETi10518
EuPathDBiHostDB:ENSG00000136425.12

GeneCards: human genes, protein and diseases

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GeneCardsi
CIB2
GeneReviewsiCIB2
HGNCiHGNC:24579 CIB2
HPAiHPA036697
MalaCardsiCIB2
MIMi605564 gene
609439 phenotype
614869 phenotype
neXtProtiNX_O75838
OpenTargetsiENSG00000136425
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
231169 Usher syndrome type 1
PharmGKBiPA134927274

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0038 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00940000157327
HOGENOMiHOG000233019
HOVERGENiHBG107344
InParanoidiO75838
OrthoDBi1271942at2759
PhylomeDBiO75838
TreeFamiTF313865

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10518

Protein Ontology

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PROi
PR:O75838

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136425 Expressed in 219 organ(s), highest expression level in right atrium auricular region
CleanExiHS_CIB2
ExpressionAtlasiO75838 baseline and differential
GenevisibleiO75838 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCIB2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75838
Secondary accession number(s): B4DDF0, H0YM71, Q05BT6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 1, 1998
Last modified: January 16, 2019
This is version 152 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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