This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008] See more...

Aliases for CAPS Gene

Aliases for CAPS Gene

  • Calcyphosine 2 3 4 5
  • Thyroid Protein P24 2 3
  • Calcyphosine 1 2 3
  • Calcyphosin 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • CAPS1 3

External Ids for CAPS Gene

Previous GeneCards Identifiers for CAPS Gene

  • GC19P006006
  • GC19P005851
  • GC19P005865
  • GC19P005673

Summaries for CAPS Gene

Entrez Gene Summary for CAPS Gene

  • This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for CAPS Gene

CAPS (Calcyphosine) is a Protein Coding gene. Diseases associated with CAPS include Clonorchiasis. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CAPSL.

UniProtKB/Swiss-Prot Summary for CAPS Gene

  • Calcium-binding protein. May play a role in cellular signaling events (Potential).

Gene Wiki entry for CAPS Gene

Additional gene information for CAPS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAPS Gene

Genomics for CAPS Gene

GeneHancer (GH) Regulatory Elements for CAPS Gene

Promoters and enhancers for CAPS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J005913 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 519.7 +3.0 2979 3.3 ZFX ZIC2 RFX1 OSR2 MAFF ZFP36 POLR2A NR3C1 POLR2G MAFK CAPS ENSG00000267571 FUT3 FUT6 CATSPERD ENSG00000267314 LOC100128568 RANBP3
GH19J005911 Promoter 0.5 EPDnew 500.7 -0.7 -666 0.1 ZFHX2 GLIS1 CAPS ENSG00000267571 ENSG00000267314 VMAC
GH19J005902 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 32.2 -7.9 -7938 4.4 EP300 FOXK2 HNRNPK ZBTB40 ZNF217 NRF1 MYC TCF12 POLR2G USF1 ENSG00000267314 ENSG00000267740 NDUFA11 VMAC lnc-NDUFA11-3 CAPS KHSRP DUS3L PTPRS SAFB
GH19J005908 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 33.1 -2.3 -2287 2.8 EP300 POLR2G NCOR1 ZIC2 KDM6A TCF7 ZBTB25 TGIF2 ZBTB7A SKI CAPS NDUFA11 ENSG00000267314 VMAC
GH19J005956 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 27.1 +50.9 50913 13.9 FOXK2 EP300 CTCF POLR2G USF1 NCOR1 FOS ZNF639 ZIC2 KDM6A VMAC CAPS NDUFA11 FUT5 ACSBG2 ENSG00000267571 GPR108 DUS3L FUT3 FUT6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAPS on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the CAPS gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • FAC1
  • MIF-1
  • Pax-4a

Genomic Locations for CAPS Gene

Genomic Locations for CAPS Gene
chr19:5,912,339-5,916,211
(GRCh38/hg38)
Size:
3,873 bases
Orientation:
Plus strand
chr19:5,911,718-5,916,222
(GRCh37/hg19)
Size:
4,505 bases
Orientation:
Plus strand

Genomic View for CAPS Gene

Genes around CAPS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CAPS Gene

Proteins for CAPS Gene

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

    Protein Symbol:
    Q13938-CAYP1_HUMAN
    Recommended name:
    Calcyphosin
    Protein Accession:
    Q13938
    Secondary Accessions:
    • A0A0X1KG78
    • K7EL21
    • Q3MJA7
    • Q8NF12
    • Q8WUZ3

    Protein attributes for CAPS Gene

    Size:
    275 amino acids
    Molecular mass:
    30240 Da
    Quaternary structure:
    • Monomer. Does not form oligomers in the presence of calcium.
    SequenceCaution:
    • Sequence=AAC14484.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80599.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03450.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAPS Gene

    Alternative splice isoforms for CAPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAPS Gene

Post-translational modifications for CAPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAPS Gene

No data available for DME Specific Peptides for CAPS Gene

Domains & Families for CAPS Gene

Gene Families for CAPS Gene

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

Protein Domains for CAPS Gene

Suggested Antigen Peptide Sequences for CAPS Gene

GenScript: Design optimal peptide antigens:
  • Calcyphosine (CAYP1_HUMAN)
genes like me logo Genes that share domains with CAPS: view

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

Function for CAPS Gene

Molecular function for CAPS Gene

UniProtKB/Swiss-Prot Function:
Calcium-binding protein. May play a role in cellular signaling events (Potential).
GENATLAS Biochemistry:
calcyphosine,calcium binding protein

Phenotypes From GWAS Catalog for CAPS Gene

Gene Ontology (GO) - Molecular Function for CAPS 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 CAPS: view
genes like me logo Genes that share phenotypes with CAPS: view

Animal Model Products

CRISPR Products

Clone Products

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

Localization for CAPS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPS Gene

Cytoplasm.

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 CAPS gene
Compartment Confidence
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0031982 vesicle HDA 19190083
genes like me logo Genes that share ontologies with CAPS: view

Pathways & Interactions for CAPS Gene

PathCards logo

SuperPathways for CAPS Gene

No Data Available

Interacting Proteins for CAPS Gene

Selected Interacting proteins: Q13938-CAYP1_HUMAN for CAPS Gene via IID

Symbol External ID(s) Details
CDH1
TUBB2B
;

Gene Ontology (GO) - Biological Process for CAPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035556 intracellular signal transduction TAS 2540953
genes like me logo Genes that share ontologies with CAPS: view

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

Drugs & Compounds for CAPS Gene

(23) Drugs for CAPS Gene - From: DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 252
Rilonacept Approved, Investigational Pharma 25
genes like me logo Genes that share compounds with CAPS: view

Transcripts for CAPS Gene

mRNA/cDNA for CAPS Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: - -
SP3:

Relevant External Links for CAPS Gene

GeneLoc Exon Structure for
CAPS

Expression for CAPS Gene

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

mRNA differential expression in normal tissues according to GTEx for CAPS Gene

This gene is overexpressed in Cervix - Endocervix (x4.2).

Protein differential expression in normal tissues from HIPED for CAPS Gene

This gene is overexpressed in Nasal epithelium (39.4), Spinal cord (8.8), and Cervix (7.1).

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



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

SOURCE GeneReport for Unigene cluster for CAPS Gene:

Hs.584744

Evidence on tissue expression from TISSUES for CAPS Gene

  • Thyroid gland(4.4)
  • Skin(4.2)
  • Nervous system(4.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CAPS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPS Gene

Orthologs for CAPS Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPS 31 30
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAPS 31 30
  • 88.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAPS 31 30
  • 84.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPS 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPS 31
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii capsla 31
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31345 31
  • 41 (a)
ManyToMany
CG10126 31 32
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
Species where no ortholog for CAPS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CAPS Gene

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

Paralogs for CAPS Gene

Paralogs for CAPS Gene

(5) SIMAP similar genes for CAPS Gene using alignment to 3 proteins:

  • CAYP1_HUMAN
  • K7EL21_HUMAN
  • K7ES72_HUMAN
genes like me logo Genes that share paralogs with CAPS: view

Variants for CAPS Gene

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

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
769950 Benign: not provided 5,914,940(+) C/A MISSENSE_VARIANT
781743 Benign: not provided 5,914,459(+) G/A MISSENSE_VARIANT
rs375700493 - p.Arg180Gln
rs7249419 - p.Arg125Gly

Additional dbSNP identifiers (rs#s) for CAPS Gene

Variation tolerance for CAPS Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAPS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CAPS Gene

Disorders for CAPS Gene

MalaCards: The human disease database

(1) MalaCards diseases for CAPS Gene - From: DISEASES

Disorder Aliases PubMed IDs
clonorchiasis
  • oriental liver fluke disease
- elite association - COSMIC cancer census association via MalaCards
Search CAPS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CAPS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAPS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPS Gene

Publications for CAPS Gene

  1. Cloning and sequence analysis of human calcyphosine complementary DNA. (PMID: 9224948) El Housni H … Christophe D (Biochimica et biophysica acta 1997) 2 3 4 23 54
  2. Localization of human calcyphosine gene (CAPS) to the p13.3 region of chromosome 19 by in situ hybridization. (PMID: 2265558) Lefort A … Mattei MG (Cytogenetics and cell genetics 1990) 2 3 23 54
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41 54
  4. Crystal-structure and biochemical characterization of recombinant human calcyphosine delineates a novel EF-hand-containing protein family. (PMID: 18775726) Dong H … Rao Z (Journal of molecular biology 2008) 3 4 54
  5. 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

Products for CAPS Gene

Sources for CAPS Gene