UniProtKB - Q9NPB3 (CABP2_HUMAN)
Calcium-binding protein 2
CABP2
Functioni
Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797).
Required for the normal transfer of light signals through the retina (By similarity).
By similarity1 PublicationSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 91 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 93 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 95 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 97 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 102 | Calcium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 165 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 167 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 169 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 171 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 176 | Calcium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 202 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 204 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 206 | Calcium 3PROSITE-ProRule annotation | 1 | |
Metal bindingi | 213 | Calcium 3PROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- calcium channel regulator activity Source: UniProtKB
- calcium ion binding Source: ProtInc
GO - Biological processi
- sensory perception of sound Source: UniProtKB
- signal transduction Source: ProtInc
- visual perception Source: UniProtKB
Keywordsi
Biological process | Hearing, Sensory transduction, Vision |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9NPB3 |
Reactomei | R-HSA-9662360, Sensory processing of sound by inner hair cells of the cochlea |
SignaLinki | Q9NPB3 |
Names & Taxonomyi
Protein namesi | Recommended name: Calcium-binding protein 2Short name: CaBP2 |
Gene namesi | Name:CABP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1385, CABP2 |
MIMi | 607314, gene |
neXtProti | NX_Q9NPB3 |
VEuPathDBi | HostDB:ENSG00000167791 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Lipid-anchor 1 Publication; Cytoplasmic side 1 Publication
Golgi apparatus
- Golgi apparatus 1 Publication
Other locations
- perinuclear region 1 Publication
Golgi apparatus
- Golgi apparatus Source: MGI
Plasma Membrane
- plasma membrane Source: MGI
Other locations
- perinuclear region of cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 93 (DFNB93)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080405 | 156 – 216 | Missing in DFNB93. 1 PublicationAdd BLAST | 61 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 51475 |
MalaCardsi | CABP2 |
MIMi | 614899, phenotype |
OpenTargetsi | ENSG00000167791 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA26001 |
Miscellaneous databases
Pharosi | Q9NPB3, Tbio |
Genetic variation databases
BioMutai | CABP2 |
DMDMi | 294862530 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed | |||
ChainiPRO_0000073517 | 2 – 220 | Calcium-binding protein 2Add BLAST | 219 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 2 | N-myristoyl glycine1 Publication | 1 |
Keywords - PTMi
Lipoprotein, MyristateProteomic databases
MassIVEi | Q9NPB3 |
PaxDbi | Q9NPB3 |
PeptideAtlasi | Q9NPB3 |
PRIDEi | Q9NPB3 |
PTM databases
iPTMneti | Q9NPB3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000167791, Expressed in testis and 9 other tissues |
ExpressionAtlasi | Q9NPB3, baseline and differential |
Genevisiblei | Q9NPB3, HS |
Organism-specific databases
HPAi | ENSG00000167791, Tissue enriched (retina) |
Interactioni
Binary interactionsi
Q9NPB3
Protein-protein interaction databases
BioGRIDi | 119560, 71 interactors |
IntActi | Q9NPB3, 33 interactors |
STRINGi | 9606.ENSP00000294288 |
Miscellaneous databases
RNActi | Q9NPB3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 78 – 113 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 129 – 146 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 18 | |
Domaini | 152 – 187 | EF-hand 3PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 189 – 220 | EF-hand 4PROSITE-ProRule annotationAdd BLAST | 32 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 45 | DisorderedSequence analysisAdd BLAST | 45 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 25 – 39 | Polar residuesSequence analysisAdd BLAST | 15 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000159796 |
HOGENOMi | CLU_061288_2_2_1 |
InParanoidi | Q9NPB3 |
OrthoDBi | 1424914at2759 |
PhylomeDBi | Q9NPB3 |
TreeFami | TF334804 |
Family and domain databases
CDDi | cd00051, EFh, 1 hit |
InterProi | View protein in InterPro IPR015754, Ca-bd_2 IPR043582, CaBP1/2/4/5 IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
PANTHERi | PTHR45917, PTHR45917, 1 hit PTHR45917:SF2, PTHR45917:SF2, 1 hit |
Pfami | View protein in Pfam PF00036, EF-hand_1, 1 hit PF13499, EF-hand_7, 1 hit |
SMARTi | View protein in SMART SM00054, EFh, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 3 hits PS50222, EF_HAND_2, 4 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGNCAKRPWR RGPKDPLQWL GSPPRGSCPS PSSSPKEQGD PAPGVQGYSV
60 70 80 90 100
LNSLVGPACI FLRPSIAATQ LDRELRPEEI EELQVAFQEF DRDRDGYIGC
110 120 130 140 150
RELGACMRTL GYMPTEMELI EISQQISGGK VDFEDFVELM GPKLLAETAD
160 170 180 190 200
MIGVRELRDA FREFDTNGDG RISVGELRAA LKALLGERLS QREVDEILQD
210 220
VDLNGDGLVD FEEFVRMMSR
The sequence of this isoform differs from the canonical sequence as follows:
15-71: Missing.
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GW24 | A0A1B0GW24_HUMAN | Calcium-binding protein 2 | CABP2 | 204 | Annotation score: | ||
F5H458 | F5H458_HUMAN | Calcium-binding protein 2 | CABP2 | 72 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063087 | 94 | R → Q1 PublicationCorresponds to variant dbSNP:rs2276118EnsemblClinVar. | 1 | |
Natural variantiVAR_080405 | 156 – 216 | Missing in DFNB93. 1 PublicationAdd BLAST | 61 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000734 | 15 – 71 | Missing in isoform S-CaBP2. 1 PublicationAdd BLAST | 57 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF170811 Genomic DNA Translation: AAF26283.1 AF169154 mRNA Translation: AAF25788.1 AP001184 Genomic DNA No translation available. |
CCDSi | CCDS8170.1 [Q9NPB3-1] |
RefSeqi | NP_001305425.1, NM_001318496.1 NP_057450.2, NM_016366.2 [Q9NPB3-1] |
Genome annotation databases
Ensembli | ENST00000294288.5; ENSP00000294288.4; ENSG00000167791.14 ENST00000353903.9; ENSP00000312037.4; ENSG00000167791.14 [Q9NPB3-2] |
GeneIDi | 51475 |
KEGGi | hsa:51475 |
MANE-Selecti | ENST00000294288.5; ENSP00000294288.4; NM_016366.3; NP_057450.2 |
UCSCi | uc001omc.2, human [Q9NPB3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF170811 Genomic DNA Translation: AAF26283.1 AF169154 mRNA Translation: AAF25788.1 AP001184 Genomic DNA No translation available. |
CCDSi | CCDS8170.1 [Q9NPB3-1] |
RefSeqi | NP_001305425.1, NM_001318496.1 NP_057450.2, NM_016366.2 [Q9NPB3-1] |
3D structure databases
AlphaFoldDBi | Q9NPB3 |
SMRi | Q9NPB3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119560, 71 interactors |
IntActi | Q9NPB3, 33 interactors |
STRINGi | 9606.ENSP00000294288 |
PTM databases
iPTMneti | Q9NPB3 |
Genetic variation databases
BioMutai | CABP2 |
DMDMi | 294862530 |
Proteomic databases
MassIVEi | Q9NPB3 |
PaxDbi | Q9NPB3 |
PeptideAtlasi | Q9NPB3 |
PRIDEi | Q9NPB3 |
Protocols and materials databases
Antibodypediai | 67889, 119 antibodies from 15 providers |
DNASUi | 51475 |
Genome annotation databases
Ensembli | ENST00000294288.5; ENSP00000294288.4; ENSG00000167791.14 ENST00000353903.9; ENSP00000312037.4; ENSG00000167791.14 [Q9NPB3-2] |
GeneIDi | 51475 |
KEGGi | hsa:51475 |
MANE-Selecti | ENST00000294288.5; ENSP00000294288.4; NM_016366.3; NP_057450.2 |
UCSCi | uc001omc.2, human [Q9NPB3-1] |
Organism-specific databases
CTDi | 51475 |
DisGeNETi | 51475 |
GeneCardsi | CABP2 |
HGNCi | HGNC:1385, CABP2 |
HPAi | ENSG00000167791, Tissue enriched (retina) |
MalaCardsi | CABP2 |
MIMi | 607314, gene 614899, phenotype |
neXtProti | NX_Q9NPB3 |
OpenTargetsi | ENSG00000167791 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA26001 |
VEuPathDBi | HostDB:ENSG00000167791 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000159796 |
HOGENOMi | CLU_061288_2_2_1 |
InParanoidi | Q9NPB3 |
OrthoDBi | 1424914at2759 |
PhylomeDBi | Q9NPB3 |
TreeFami | TF334804 |
Enzyme and pathway databases
PathwayCommonsi | Q9NPB3 |
Reactomei | R-HSA-9662360, Sensory processing of sound by inner hair cells of the cochlea |
SignaLinki | Q9NPB3 |
Miscellaneous databases
BioGRID-ORCSi | 51475, 17 hits in 1061 CRISPR screens |
GenomeRNAii | 51475 |
Pharosi | Q9NPB3, Tbio |
PROi | PR:Q9NPB3 |
RNActi | Q9NPB3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000167791, Expressed in testis and 9 other tissues |
ExpressionAtlasi | Q9NPB3, baseline and differential |
Genevisiblei | Q9NPB3, HS |
Family and domain databases
CDDi | cd00051, EFh, 1 hit |
InterProi | View protein in InterPro IPR015754, Ca-bd_2 IPR043582, CaBP1/2/4/5 IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
PANTHERi | PTHR45917, PTHR45917, 1 hit PTHR45917:SF2, PTHR45917:SF2, 1 hit |
Pfami | View protein in Pfam PF00036, EF-hand_1, 1 hit PF13499, EF-hand_7, 1 hit |
SMARTi | View protein in SMART SM00054, EFh, 3 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 3 hits PS50222, EF_HAND_2, 4 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CABP2_HUMAN | |
Accessioni | Q9NPB3Primary (citable) accession number: Q9NPB3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | April 20, 2010 | |
Last modified: | May 25, 2022 | |
This is version 159 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot