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CAPS2 calcyphosine 2 [ Homo sapiens (human) ]

Gene ID: 84698, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (75275979..75390901, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (75250589..75365485, complement)
105.20220307 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
  • 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_2023_10

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

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