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    TESC tescalcin [ Homo sapiens (human) ]

    Gene ID: 54997, updated on 2-Nov-2024

    Summary

    Official Symbol
    TESCprovided by HGNC
    Official Full Name
    tescalcinprovided by HGNC
    Primary source
    HGNC:HGNC:26065
    See related
    Ensembl:ENSG00000088992 MIM:611585; AllianceGenome:HGNC:26065
    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
    TSC; CHP3
    Summary
    Enables calcium ion binding activity. Involved in several processes, including positive regulation of macromolecule biosynthetic process; positive regulation of myeloid cell differentiation; and positive regulation of sodium:proton antiporter activity. Located in several cellular components, including cytosol; lamellipodium; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in salivary gland (RPKM 66.0), stomach (RPKM 63.6) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TESC in Genome Data Viewer
    Location:
    12q24.22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (117038923..117099416, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (117019980..117080464, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117476728..117537221, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4909 Neighboring gene ribosomal protein L36 pseudogene 15 Neighboring gene F-box and WD repeat domain containing 8 Neighboring gene uncharacterized LOC100506551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117443824-117444346 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117447522-117448273 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:117461930-117463129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117473629-117474381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117474382-117475133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117477181-117478126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117478127-117479070 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117479989-117480493 Neighboring gene Sharpr-MPRA regulatory region 12461 Neighboring gene Sharpr-MPRA regulatory region 12935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117490883-117491488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117492095-117492700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117500218-117500994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117500995-117501771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4911 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117537215-117537353 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117538220-117538437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117540353-117540852 Neighboring gene uncharacterized LOC105370010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7102 Neighboring gene TESC antisense RNA 1 (head to head) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117556298-117556892 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:117580597-117581796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4913 Neighboring gene F-box protein 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4915

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20607

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of granulocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of granulocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of megakaryocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of sodium:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    calcineurin B homologous protein 3
    Names
    calcineurin-like EF hand protein 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001168325.2NP_001161797.1  calcineurin B homologous protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001161797.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AI372964, AI910454, BQ949772, DB452909
      Consensus CDS
      CCDS53835.1
      UniProtKB/Swiss-Prot
      Q96BS2
      Related
      ENSP00000445689.1, ENST00000541210.5
      Conserved Domains (1) summary
      pfam13499
      Location:85132
      EF-hand_7; EF-hand domain pair
    2. NM_017899.4NP_060369.3  calcineurin B homologous protein 3 isoform 1

      See identical proteins and their annotated locations for NP_060369.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI372964, BC015221, DB452909
      Consensus CDS
      CCDS9183.3
      UniProtKB/Swiss-Prot
      F5H1Y5, Q96BS2, Q9NWT9
      Related
      ENSP00000334785.7, ENST00000335209.12
      Conserved Domains (1) summary
      COG5126
      Location:20142
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RNA

    1. NR_031766.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI372964, BM666793, BQ434057, DB452909
      Related
      ENST00000470612.5

    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
      117038923..117099416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429044.1XP_047285000.1  calcineurin B homologous protein 3 isoform X2

    2. XM_017019532.2XP_016875021.2  calcineurin B homologous protein 3 isoform X1

    3. XM_011538503.1XP_011536805.1  calcineurin B homologous protein 3 isoform X3

      Conserved Domains (2) summary
      COG5126
      Location:7130
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cl08302
      Location:102130
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      117019980..117080464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372364.1XP_054228339.1  calcineurin B homologous protein 3 isoform X2

    2. XM_054372363.1XP_054228338.1  calcineurin B homologous protein 3 isoform X1

    3. XM_054372365.1XP_054228340.1  calcineurin B homologous protein 3 isoform X3