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    CAPS2 calcyphosine 2 [ Homo sapiens (human) ]

    Gene ID: 84698, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CAPS2provided by HGNC
    Official Full Name
    calcyphosine 2provided by HGNC
    Primary source
    HGNC:HGNC:16471
    See related
    Ensembl:ENSG00000180881 MIM:607724; AllianceGenome:HGNC:16471
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UG0636c06
    Summary
    Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CAPS2 in Genome Data Viewer
    Location:
    12q21.1-q21.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (75275979..75390901, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (75250589..75365485, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (75669759..75784681, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130268 Neighboring gene CAPS2 antisense RNA 1 Neighboring gene cyclin G2 pseudogene 1 Neighboring gene necdin, MAGE family member pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4661 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:75734995-75735496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:75735497-75735996 Neighboring gene GLIPR1 like 1 Neighboring gene uncharacterized LOC124902968 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:75770264-75770835 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:75784671-75784843 Neighboring gene GLIPR1 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:75880921-75881422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:75881423-75881922 Neighboring gene GLIPR1 antisense RNA 1 Neighboring gene GLI pathogenesis related 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Rheumatoid wrist deformities and their relation to ulnar drift. Hastings DE, et al. J Bone Joint Surg Am, 1975 Oct. PMID 1184642
    2. Cloning, characterization, and expression of calcyphosine 2, a novel human gene encoding an EF-hand Ca(2+)-binding protein. Wang S, et al. Biochem Biophys Res Commun, 2002 Feb 22. PMID 11846421
    3. A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function. Speidel D, et al. J Biol Chem, 2003 Dec 26. PMID 14530279
    4. Genetics of coronary artery calcification among African Americans, a meta-analysis. Wojczynski MK, et al. BMC Med Genet, 2013 Jul 19. PMID 23870195, Free PMC Article
    5. CBFβ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. Kim DY, et al. Mol Cell, 2013 Feb 21. PMID 23333304, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of calcyphosine 2 protein (CAPS2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    calcyphosin-2
    Names
    calcyphosphine 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286547.3 → NP_001273476.1  calcyphosin-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092552, AK091839, BC033860
      UniProtKB/TrEMBL
      B9A061
      Related
      ENSP00000386977.2, ENST00000409799.6
      Conserved Domains (3) summary
      cd00051
      Location:372 → 428
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:368 → 428
      EF-hand_7; EF-hand domain pair
      cl00723
      Location:326 → 362
      YajQ_like; Proteins similar to Escherichia coli YajQ

    2. NM_001286548.3 → NP_001273477.1  calcyphosin-2 isoform 3

      See identical proteins and their annotated locations for NP_001273477.1

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AF251056, AK092274, BC033860, BG186487
      UniProtKB/Swiss-Prot
      Q9BXY5
      Conserved Domains (4) summary
      cd00051
      Location:222 → 278
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:176 → 212
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:222 → 377
      EFh_PEF; The penta-EF hand (PEF) family
      cl25732
      Location:68 → 155
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001355023.4 → NP_001341952.2  calcyphosin-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761

    4. NM_001355024.4 → NP_001341953.2  calcyphosin-2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552
      Consensus CDS
      CCDS91727.1
      Related
      ENSP00000514274.1, ENST00000699294.1

    5. NM_001355025.2 → NP_001341954.1  calcyphosin-2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      UniProtKB/Swiss-Prot
      A0A8V8TPT3, Q6PH84, Q8N242, Q8NAY5, Q9BXY5
      Conserved Domains (3) summary
      cd00051
      Location:368 → 424
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:322 → 358
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:368 → 523
      EFh_PEF; The penta-EF hand (PEF) family

    6. NM_001355026.2 → NP_001341955.1  calcyphosin-2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      UniProtKB/TrEMBL
      B9A061
      Conserved Domains (3) summary
      cd00051
      Location:317 → 373
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:271 → 307
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:317 → 472
      EFh_PEF; The penta-EF hand (PEF) family

    7. NM_001355027.2 → NP_001341956.1  calcyphosin-2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      UniProtKB/Swiss-Prot
      A0A8V8TPT3, Q6PH84, Q8N242, Q8NAY5, Q9BXY5
      Conserved Domains (2) summary
      cd00051
      Location:368 → 424
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:322 → 358
      YajQ_like; Proteins similar to Escherichia coli YajQ

    8. NM_001355030.2 → NP_001341959.1  calcyphosin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      Conserved Domains (4) summary
      cd00051
      Location:222 → 278
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:176 → 212
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:222 → 377
      EFh_PEF; The penta-EF hand (PEF) family
      cl25732
      Location:68 → 155
      SMC_N; RecF/RecN/SMC N terminal domain

    9. NM_001355031.2 → NP_001341960.1  calcyphosin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      Conserved Domains (4) summary
      cd00051
      Location:222 → 278
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:176 → 212
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:222 → 377
      EFh_PEF; The penta-EF hand (PEF) family
      cl25732
      Location:68 → 155
      SMC_N; RecF/RecN/SMC N terminal domain

    10. NM_001355032.2 → NP_001341961.1  calcyphosin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      Conserved Domains (4) summary
      cd00051
      Location:222 → 278
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:176 → 212
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:222 → 377
      EFh_PEF; The penta-EF hand (PEF) family
      cl25732
      Location:68 → 155
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001355033.2 → NP_001341962.1  calcyphosin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860
      Conserved Domains (4) summary
      cd00051
      Location:222 → 278
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl00723
      Location:176 → 212
      YajQ_like; Proteins similar to Escherichia coli YajQ
      cl25352
      Location:222 → 377
      EFh_PEF; The penta-EF hand (PEF) family
      cl25732
      Location:68 → 155
      SMC_N; RecF/RecN/SMC N terminal domain

    12. NM_032606.5 → NP_115995.2  calcyphosin-2 isoform 1

      See identical proteins and their annotated locations for NP_115995.2

      Status: VALIDATED

      Source sequence(s)
      AC092552, AF351611, AK091839, BC033860
      UniProtKB/Swiss-Prot
      A0A8V8TPT3, Q6PH84, Q8N242, Q8NAY5, Q9BXY5
      Related
      ENSP00000386959.4, ENST00000409445.8
      Conserved Domains (3) summary
      cd00051
      Location:454 → 510
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:450 → 510
      EF-hand_7; EF-hand domain pair
      cl00723
      Location:408 → 444
      YajQ_like; Proteins similar to Escherichia coli YajQ

    RNA

    1. NR_149155.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    2. NR_149156.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    3. NR_149157.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    4. NR_149158.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    5. NR_149159.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    6. NR_149160.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    7. NR_149161.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091534, AC092552, AC121761, BC033860

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      75275979..75390901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538888.1 → XP_011537190.1  calcyphosin-2 isoform X4

      UniProtKB/Swiss-Prot
      A0A8V8TPT3, Q6PH84, Q8N242, Q8NAY5, Q9BXY5
      Conserved Domains (3) summary
      cd00051
      Location:349 → 405
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:345 → 405
      EF-hand_7; EF-hand domain pair
      cl00723
      Location:303 → 339
      YajQ_like; Proteins similar to Escherichia coli YajQ

    2. XM_047429730.1 → XP_047285686.1  calcyphosin-2 isoform X2

      Related
      ENSP00000376963.4, ENST00000393284.8

    3. XM_047429727.1 → XP_047285683.1  calcyphosin-2 isoform X1

    4. XM_047429729.1 → XP_047285685.1  calcyphosin-2 isoform X2

    5. XM_047429726.1 → XP_047285682.1  calcyphosin-2 isoform X1

    6. XM_047429724.1 → XP_047285680.1  calcyphosin-2 isoform X1

    7. XM_011538889.4 → XP_011537191.1  calcyphosin-2 isoform X2

      See identical proteins and their annotated locations for XP_011537191.1

      UniProtKB/Swiss-Prot
      A0A8V8TPT3, Q6PH84, Q8N242, Q8NAY5, Q9BXY5
      Conserved Domains (3) summary
      cd00051
      Location:442 → 498
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:438 → 498
      EF-hand_7; EF-hand domain pair
      cl00723
      Location:396 → 432
      YajQ_like; Proteins similar to Escherichia coli YajQ

    8. XM_047429725.1 → XP_047285681.1  calcyphosin-2 isoform X1

    9. XM_047429728.1 → XP_047285684.1  calcyphosin-2 isoform X2

    10. XM_011538878.2 → XP_011537180.1  calcyphosin-2 isoform X2

      See identical proteins and their annotated locations for XP_011537180.1

      UniProtKB/Swiss-Prot
      A0A8V8TPT3, Q6PH84, Q8N242, Q8NAY5, Q9BXY5
      Conserved Domains (3) summary
      cd00051
      Location:442 → 498
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:438 → 498
      EF-hand_7; EF-hand domain pair
      cl00723
      Location:396 → 432
      YajQ_like; Proteins similar to Escherichia coli YajQ

    11. XM_011538887.3 → XP_011537189.1  calcyphosin-2 isoform X3

      UniProtKB/TrEMBL
      B9A061
      Conserved Domains (3) summary
      cd00051
      Location:384 → 440
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:380 → 440
      EF-hand_7; EF-hand domain pair
      cl00723
      Location:338 → 374
      YajQ_like; Proteins similar to Escherichia coli YajQ

    12. XM_047429731.1 → XP_047285687.1  calcyphosin-2 isoform X6

    13. XM_011538890.2 → XP_011537192.1  calcyphosin-2 isoform X5

    RNA

    1. XR_944789.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      75250589..75365485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373559.1 → XP_054229534.1  calcyphosin-2 isoform X4

    2. XM_054373557.1 → XP_054229532.1  calcyphosin-2 isoform X2

    3. XM_054373552.1 → XP_054229527.1  calcyphosin-2 isoform X1

    4. XM_054373556.1 → XP_054229531.1  calcyphosin-2 isoform X2

    5. XM_054373551.1 → XP_054229526.1  calcyphosin-2 isoform X1

    6. XM_054373553.1 → XP_054229528.1  calcyphosin-2 isoform X2

    7. XM_054373549.1 → XP_054229524.1  calcyphosin-2 isoform X1

    8. XM_054373550.1 → XP_054229525.1  calcyphosin-2 isoform X1

    9. XM_054373554.1 → XP_054229529.1  calcyphosin-2 isoform X2

    10. XM_054373555.1 → XP_054229530.1  calcyphosin-2 isoform X2

    11. XM_054373558.1 → XP_054229533.1  calcyphosin-2 isoform X3

    12. XM_054373561.1 → XP_054229536.1  calcyphosin-2 isoform X6

    13. XM_054373560.1 → XP_054229535.1  calcyphosin-2 isoform X5

    RNA

    1. XR_008488705.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXY5.3 GenPept UniProtKB/Swiss-Prot:Q9BXY5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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