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Protein

Calcium-binding protein 2

Gene

CABP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi91 – 1021PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi165 – 1762PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi202 – 2133PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • calcium ion binding Source: ProtInc

GO - Biological processi

  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167791-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium-binding protein 2
Short name:
CaBP2
Gene namesi
Name:CABP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:1385. CABP2.

Subcellular locationi

GO - Cellular componenti

  • Golgi apparatus Source: MGI
  • perinuclear region of cytoplasm Source: UniProtKB-SubCell
  • plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 93 (DFNB93)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram.
See also OMIM:614899

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi51475.
MalaCardsiCABP2.
MIMi614899. phenotype.
OpenTargetsiENSG00000167791.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA26001.

Polymorphism and mutation databases

BioMutaiCABP2.
DMDMi294862530.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00000735172 – 220Calcium-binding protein 2Add BLAST219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

PaxDbiQ9NPB3.
PRIDEiQ9NPB3.

Expressioni

Tissue specificityi

Retina.1 Publication

Gene expression databases

BgeeiENSG00000167791.
CleanExiHS_CABP2.
ExpressionAtlasiQ9NPB3. baseline and differential.
GenevisibleiQ9NPB3. HS.

Interactioni

Protein-protein interaction databases

BioGridi119560. 3 interactors.
IntActiQ9NPB3. 6 interactors.
STRINGi9606.ENSP00000294288.

Structurei

3D structure databases

ProteinModelPortaliQ9NPB3.
SMRiQ9NPB3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini78 – 113EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini111 – 146EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini152 – 187EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini189 – 220EF-hand 4PROSITE-ProRule annotationAdd BLAST32

Sequence similaritiesi

Contains 4 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00760000118901.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiQ9NPB3.
OMAiCAKRPRH.
OrthoDBiEOG091G0PB4.
PhylomeDBiQ9NPB3.
TreeFamiTF334804.

Family and domain databases

CDDicd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 2 hits.
InterProiIPR015754. Ca-bd_2.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PANTHERiPTHR23050:SF21. PTHR23050:SF21. 1 hit.
PfamiPF00036. EF-hand_1. 1 hit.
PF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform L-CaBP2 (identifier: Q9NPB3-1) [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
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
Length:220
Mass (Da):24,482
Last modified:April 20, 2010 - v4
Checksum:i9A0F0E7358A44F3A
GO
Isoform S-CaBP2 (identifier: Q9NPB3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     15-71: Missing.

Note: No experimental confirmation available.
Show »
Length:163
Mass (Da):18,667
Checksum:i8A69C8BA13039349
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06308794R → Q.1 PublicationCorresponds to variant rs2276118dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00073415 – 71Missing in isoform S-CaBP2. 1 PublicationAdd BLAST57

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.
CCDSiCCDS8170.1. [Q9NPB3-1]
RefSeqiNP_001305425.1. NM_001318496.1.
NP_057450.2. NM_016366.2. [Q9NPB3-1]
UniGeneiHs.278984.

Genome annotation databases

EnsembliENST00000294288; ENSP00000294288; ENSG00000167791. [Q9NPB3-1]
ENST00000353903; ENSP00000312037; ENSG00000167791. [Q9NPB3-2]
GeneIDi51475.
KEGGihsa:51475.
UCSCiuc001omc.2. human. [Q9NPB3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS8170.1. [Q9NPB3-1]
RefSeqiNP_001305425.1. NM_001318496.1.
NP_057450.2. NM_016366.2. [Q9NPB3-1]
UniGeneiHs.278984.

3D structure databases

ProteinModelPortaliQ9NPB3.
SMRiQ9NPB3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119560. 3 interactors.
IntActiQ9NPB3. 6 interactors.
STRINGi9606.ENSP00000294288.

Polymorphism and mutation databases

BioMutaiCABP2.
DMDMi294862530.

Proteomic databases

PaxDbiQ9NPB3.
PRIDEiQ9NPB3.

Protocols and materials databases

DNASUi51475.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294288; ENSP00000294288; ENSG00000167791. [Q9NPB3-1]
ENST00000353903; ENSP00000312037; ENSG00000167791. [Q9NPB3-2]
GeneIDi51475.
KEGGihsa:51475.
UCSCiuc001omc.2. human. [Q9NPB3-1]

Organism-specific databases

CTDi51475.
DisGeNETi51475.
GeneCardsiCABP2.
H-InvDBHIX0201705.
HGNCiHGNC:1385. CABP2.
MalaCardsiCABP2.
MIMi607314. gene.
614899. phenotype.
neXtProtiNX_Q9NPB3.
OpenTargetsiENSG00000167791.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA26001.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00760000118901.
HOGENOMiHOG000233018.
HOVERGENiHBG012180.
InParanoidiQ9NPB3.
OMAiCAKRPRH.
OrthoDBiEOG091G0PB4.
PhylomeDBiQ9NPB3.
TreeFamiTF334804.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167791-MONOMER.

Miscellaneous databases

GenomeRNAii51475.
PROiQ9NPB3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167791.
CleanExiHS_CABP2.
ExpressionAtlasiQ9NPB3. baseline and differential.
GenevisibleiQ9NPB3. HS.

Family and domain databases

CDDicd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 2 hits.
InterProiIPR015754. Ca-bd_2.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PANTHERiPTHR23050:SF21. PTHR23050:SF21. 1 hit.
PfamiPF00036. EF-hand_1. 1 hit.
PF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCABP2_HUMAN
AccessioniPrimary (citable) accession number: Q9NPB3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 20, 2010
Last modified: November 30, 2016
This is version 128 of the entry and version 4 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.