Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] See more...

Aliases for CAPS2 Gene

Aliases for CAPS2 Gene

  • Calcyphosine 2 2 3 5
  • Calcyphosphine 2 2 3
  • Calcyphosin-2 3 4
  • Calcyphosine-2 4
  • UG0636c06 3

External Ids for CAPS2 Gene

Previous GeneCards Identifiers for CAPS2 Gene

  • GC12P073945
  • GC12M075580
  • GC12M075386
  • GC12M073956
  • GC12M075669
  • GC12M072719
  • GC12M075275
  • GC12M075259

Summaries for CAPS2 Gene

Entrez Gene Summary for CAPS2 Gene

  • Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CAPS2 Gene

CAPS2 (Calcyphosine 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFCAB6.

Additional gene information for CAPS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAPS2 Gene

Genomics for CAPS2 Gene

GeneHancer (GH) Regulatory Elements for CAPS2 Gene

Promoters and enhancers for CAPS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPS2

Top Transcription factor binding sites by QIAGEN in the CAPS2 gene promoter:
  • CUTL1
  • Evi-1
  • Ik-2
  • Sox5
  • SRF
  • SRF (504 AA)
  • SRY
  • STAT3
  • ZID

Genomic Locations for CAPS2 Gene

Genomic Locations for CAPS2 Gene
chr12:75,257,036-75,390,928
(GRCh38/hg38)
Size:
133,893 bases
Orientation:
Minus strand
chr12:75,669,759-75,784,708
(GRCh37/hg19)
Size:
114,950 bases
Orientation:
Minus strand

Genomic View for CAPS2 Gene

Genes around CAPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPS2 Gene

Proteins for CAPS2 Gene

  • Protein details for CAPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXY5-CAYP2_HUMAN
    Recommended name:
    Calcyphosin-2
    Protein Accession:
    Q9BXY5
    Secondary Accessions:
    • Q6PH84
    • Q8N242
    • Q8NAY5

    Protein attributes for CAPS2 Gene

    Size:
    557 amino acids
    Molecular mass:
    63835 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAN76511.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03845.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CAPS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAPS2 Gene

Post-translational modifications for CAPS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAPS2 Gene

Domains & Families for CAPS2 Gene

Gene Families for CAPS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CAPS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CAPS2 Gene

GenScript: Design optimal peptide antigens:
  • Calcyphosine-2 (CAYP2_HUMAN)
genes like me logo Genes that share domains with CAPS2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CAPS2 Gene

Function for CAPS2 Gene

Phenotypes From GWAS Catalog for CAPS2 Gene

Gene Ontology (GO) - Molecular Function for CAPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CAPS2: view
genes like me logo Genes that share phenotypes with CAPS2: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CAPS2 Gene

Localization for CAPS2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAPS2 gene
Compartment Confidence
cytoskeleton 2
nucleus 2
endosome 1
cytosol 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CAPS2 Gene

Pathways & Interactions for CAPS2 Gene

PathCards logo

SuperPathways for CAPS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CAPS2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CAPS2 Gene

Drugs & Compounds for CAPS2 Gene

No Compound Related Data Available

Transcripts for CAPS2 Gene

mRNA/cDNA for CAPS2 Gene

12 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAPS2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for CAPS2 Gene

GeneLoc Exon Structure for
CAPS2

Expression for CAPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPS2 Gene

Protein differential expression in normal tissues from HIPED for CAPS2 Gene

This gene is overexpressed in Monocytes (38.4), CD8 Tcells (12.7), and Bone (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAPS2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPS2

SOURCE GeneReport for Unigene cluster for CAPS2 Gene:

Hs.733835

mRNA Expression by UniProt/SwissProt for CAPS2 Gene:

Q9BXY5-CAYP2_HUMAN
Tissue specificity: Abundantly expressed in many tissues. Expressed in brain, colon, heart, kidney, liver, lung, liver, pancreas, placenta, skeletal muscle, testis and thymus. Highest expression in colon, testis, lung, placenta and brain.

Evidence on tissue expression from TISSUES for CAPS2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CAPS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPS2 Gene

Orthologs for CAPS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPS2 31 30
  • 98.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAPS2 31 30
  • 86.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAPS2 31 30
  • 83.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Caps2 30
  • 80.68 (n)
mouse
(Mus musculus)
Mammalia Caps2 17 31 30
  • 77.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAPS2 31
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPS2 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPS2 31 30
  • 65.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPS2 31
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia caps2 30
  • 64.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14895 30
zebrafish
(Danio rerio)
Actinopterygii LOC101884719 30
  • 49.25 (n)
caps2 31
  • 30 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31345 31
  • 16 (a)
ManyToMany
CG10126 31
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10452 31
  • 26 (a)
OneToOne
Species where no ortholog for CAPS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CAPS2 Gene

ENSEMBL:
Gene Tree for CAPS2 (if available)
TreeFam:
Gene Tree for CAPS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAPS2: view image

Paralogs for CAPS2 Gene

Paralogs for CAPS2 Gene

(2) SIMAP similar genes for CAPS2 Gene using alignment to 8 proteins:

  • CAYP2_HUMAN
  • A2RRN2_HUMAN
  • B9A061_HUMAN
  • C9J524_HUMAN
  • F8VWP7_HUMAN
  • F8VZC3_HUMAN
  • F8W927_HUMAN
  • H7BXT1_HUMAN

Pseudogenes.org Pseudogenes for CAPS2 Gene

genes like me logo Genes that share paralogs with CAPS2: view

Variants for CAPS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPS2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
742338 Likely Benign: not provided 75,322,967(-) T/C INTRON_VARIANT
778643 Benign: not provided 75,323,198(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
782877 Benign: not provided 75,316,434(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
783668 Benign: not provided 75,304,855(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs10879901 - p.Leu125Phe

Additional dbSNP identifiers (rs#s) for CAPS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CAPS2 Gene

Variant ID Type Subtype PubMed ID
dgv98n21 CNV gain 19592680
esv3630011 CNV gain 21293372
nsv1054059 CNV loss 25217958
nsv520316 CNV loss 19592680

Variation tolerance for CAPS2 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.33; 85.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPS2 Gene

Human Gene Mutation Database (HGMD)
CAPS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPS2 Gene

Disorders for CAPS2 Gene

Additional Disease Information for CAPS2

No disorders were found for CAPS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CAPS2 Gene

Publications for CAPS2 Gene

  1. Cloning, characterization, and expression of calcyphosine 2, a novel human gene encoding an EF-hand Ca(2+)-binding protein. (PMID: 11846421) Wang S … Mao Y (Biochemical and biophysical research communications 2002) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. CBFβ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. (PMID: 23333304) Kim DY … Gross JD (Molecular cell 2013) 3 54
  5. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PMID: 23870195) Wojczynski MK … Reilly MP (BMC medical genetics 2013) 3 54

Products for CAPS2 Gene

Sources for CAPS2 Gene