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UniProtKB - O75838 (CIB2_HUMAN)

Entry version 165 (10 Feb 2021)
Sequence version 1 (01 Nov 1998)
Previous versions | rss
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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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75838

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000136425.12

<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 & Seán O’Donoghue; 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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06908664E → D in USH1J. 1 PublicationCorresponds to variant dbSNP:rs145415848EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75838, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate

Genetic variation 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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000735341 – 187Calcium and integrin-binding family member 2Add BLAST187

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75838

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: a multi-organism proteome resource

More...ProteomicsDBi		40171
50222 [O75838-1]
58377

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 right atrium auricular region and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...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		ENSG00000136425, Tissue enhanced (heart muscle, intestine)

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115773, 16 interactors

Protein interaction database and analysis system

More...IntActi		O75838, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258930

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75838, protein

<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

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

More...SMRi		O75838

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157327

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_061288_6_0_1

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

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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

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.

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.

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>
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>
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>
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:rs758743502EnsemblClinVar.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.<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

More...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

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

NCBI Reference Sequences

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10518

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10518

UCSC genome browser

More...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]

3D structure databases

SMRiO75838
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115773, 16 interactors
IntActiO75838, 1 interactor
STRINGi9606.ENSP00000258930

Chemistry databases

DrugBankiDB11093, Calcium citrate
DB11348, Calcium Phosphate
DB14481, Calcium phosphate dihydrate

PTM databases

iPTMnetiO75838
PhosphoSitePlusiO75838

Genetic variation databases

BioMutaiCIB2

Proteomic databases

jPOSTiO75838
PaxDbiO75838
PeptideAtlasiO75838
PRIDEiO75838
ProteomicsDBi40171
50222 [O75838-1]
58377

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14987, 196 antibodies

The DNASU plasmid repository

More...DNASUi		10518

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

More...CTDi		10518
DisGeNETi10518

GeneCards: human genes, protein and diseases

More...GeneCardsi		CIB2
GeneReviewsiCIB2
HGNCiHGNC:24579, CIB2
HPAiENSG00000136425, Tissue enhanced (heart muscle, intestine)
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
VEuPathDBiHostDB:ENSG00000136425.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0038, Eukaryota
GeneTreeiENSGT00940000157327
HOGENOMiCLU_061288_6_0_1
InParanoidiO75838
OrthoDBi1271942at2759
PhylomeDBiO75838
TreeFamiTF313865

Enzyme and pathway databases

PathwayCommonsiO75838

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10518, 7 hits in 876 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CIB2, human

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

More...GenomeRNAii		10518
PharosiO75838, Tbio

Protein Ontology

More...PROi		PR:O75838
RNActiO75838, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136425, Expressed in right atrium auricular region and 232 other tissues
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: February 10, 2021
This is version 165 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

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
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