Aliases for TESC Gene

Aliases for TESC Gene

  • Tescalcin 2 3 4 5
  • Calcineurin B Homologous Protein 3 3 4
  • Calcineurin-Like EF Hand Protein 3 2 3
  • CHP3 3 4
  • TSC 3 4

External Ids for TESC Gene

Previous GeneCards Identifiers for TESC Gene

  • GC12M115961
  • GC12M117477
  • GC12M114485

Summaries for TESC Gene

GeneCards Summary for TESC Gene

TESC (Tescalcin) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and magnesium ion binding. An important paralog of this gene is CHP1.

UniProtKB/Swiss-Prot Summary for TESC Gene

  • Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin.

Additional gene information for TESC Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TESC Gene

Genomics for TESC Gene

GeneHancer (GH) Regulatory Elements for TESC Gene

Promoters and enhancers for TESC 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
GH12J117098 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 755.2 +0.9 878 2.8 SIN3A ZNF24 SP1 MYC CC2D1A ELF1 MAX L3MBTL2 DACH1 ZNF121 TESC-AS1 TESC lnc-FBXO21-2 FBXW8 RFC5 MED13L RF00017-1293
GH12J117100 Promoter 0.7 Ensembl 750.6 -0.9 -922 0.4 CTCF MIXL1 MYC MAX ZNF121 MLLT1 GMEB1 HDGF MNT TESC-AS1 TESC lnc-FBXO21-2 lnc-TESC-2
GH12J117047 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.5 +50.5 50525 2.5 RBPJ NR2F1 NR2F6 MIXL1 ZNF121 MNT RERE ELF3 TFE3 PPARG TESC FBXW8 lnc-TESC-3 RF00017-1293
GH12J117041 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.8 +56.8 56796 1.9 SMARCE1 NR2F6 RUNX1 CC2D1A L3MBTL2 DACH1 TEAD4 ZKSCAN8 ZNF148 GTF2F1 FBXW8 RFC5 TESC lnc-TESC-3 RF00017-1293
GH12J117044 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13 +53.7 53662 2.9 MLX RBPJ NR2F1 NR2F6 MIXL1 MYC MAX RERE ELF3 TFE3 TESC FBXW8 lnc-TESC-3 RF00017-1293
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TESC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TESC gene promoter:
  • AP-2rep
  • Arnt
  • FAC1
  • HEN1
  • HOXA9
  • HOXA9B
  • HSF2
  • Meis-1
  • Meis-1b
  • N-Myc

Genomic Locations for TESC Gene

Genomic Locations for TESC Gene
chr12:117,038,923-117,099,479
(GRCh38/hg38)
Size:
60,557 bases
Orientation:
Minus strand
chr12:117,476,728-117,537,284
(GRCh37/hg19)
Size:
60,557 bases
Orientation:
Minus strand

Genomic View for TESC Gene

Genes around TESC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TESC Gene

Proteins for TESC Gene

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

    Protein Symbol:
    Q96BS2-CHP3_HUMAN
    Recommended name:
    Calcineurin B homologous protein 3
    Protein Accession:
    Q96BS2
    Secondary Accessions:
    • F5H1Y5
    • Q9NWT9

    Protein attributes for TESC Gene

    Size:
    214 amino acids
    Molecular mass:
    24750 Da
    Quaternary structure:
    • Monomer (By similarity). Homodimer; disulfide-linked (By similarity). Interacts with SLC9A1/NHE1; the interaction enables an optimal Na(+)/H(+) exchange activity (PubMed:11696366, PubMed:18321853, PubMed:30287853, PubMed:12809501).
    SequenceCaution:
    • Sequence=BAA91288.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW98101.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TESC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TESC Gene

Post-translational modifications for TESC Gene

  • Ubiquitination at Lys33
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TESC Gene

Domains & Families for TESC Gene

Gene Families for TESC Gene

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

Protein Domains for TESC Gene

Suggested Antigen Peptide Sequences for TESC Gene

GenScript: Design optimal peptide antigens:
  • Calcineurin B homologous protein 3 (TESC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96BS2

UniProtKB/Swiss-Prot:

CHP3_HUMAN :
  • Binds calcium via its EF-hands. Calcium-binding mediates a conformational change. Can also bind magnesium (By similarity).
  • Belongs to the calcineurin regulatory subunit family. CHP subfamily.
Domain:
  • Binds calcium via its EF-hands. Calcium-binding mediates a conformational change. Can also bind magnesium (By similarity).
Family:
  • Belongs to the calcineurin regulatory subunit family. CHP subfamily.
genes like me logo Genes that share domains with TESC: view

Function for TESC Gene

Molecular function for TESC Gene

UniProtKB/Swiss-Prot Function:
Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin.
UniProtKB/Swiss-Prot Induction:
Up-regulated during granulocytic differentiation in a ERK-dependent manner (is mediated by activation of ERK) (at protein level). Up-regulated during the differentiation and maturation of primary megakaryocytes. Down-regulated during monocytic-macrophage differentiation in a ERK-dependent manner.

Phenotypes From GWAS Catalog for TESC Gene

Gene Ontology (GO) - Molecular Function for TESC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0004860 protein kinase inhibitor activity IEA --
GO:0005509 calcium ion binding IDA 11696366
GO:0005515 protein binding IPI 11696366
GO:0019212 phosphatase inhibitor activity ISS --
genes like me logo Genes that share ontologies with TESC: view
genes like me logo Genes that share phenotypes with TESC: view

Animal Models for TESC Gene

MGI Knock Outs for TESC:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TESC

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TESC Gene

Localization for TESC Gene

Subcellular locations from UniProtKB/Swiss-Prot for TESC Gene

Nucleus. Cytoplasm. Membrane; Lipid-anchor. Cell membrane. Cell projection, lamellipodium. Cell projection, ruffle membrane. Note=Colocalizes with SLC9A1 at the plasma membrane. {ECO:0000269 PubMed:18321853}.

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 TESC gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TESC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IDA,IEA 18321853
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA 18321853
genes like me logo Genes that share ontologies with TESC: view

Pathways & Interactions for TESC Gene

PathCards logo

SuperPathways for TESC Gene

No Data Available

Gene Ontology (GO) - Biological Process for TESC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0008285 negative regulation of cell proliferation IMP 17717601
GO:0010628 positive regulation of gene expression IMP 17717601
GO:0015031 protein transport IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with TESC: view

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

Drugs & Compounds for TESC Gene

(1) Drugs for TESC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773

(1) Additional Compounds for TESC Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with TESC: view

Transcripts for TESC Gene

mRNA/cDNA for TESC Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TESC

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - -
SP3: - - - -
SP4:
SP5: - -

Relevant External Links for TESC Gene

GeneLoc Exon Structure for
TESC
ECgene alternative splicing isoforms for
TESC

Expression for TESC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x8.0), Brain - Putamen (basal ganglia) (x4.3), and Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for TESC Gene

This gene is overexpressed in Skin (22.6), Salivary gland (16.2), and Stomach (8.6).

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



NURSA nuclear receptor signaling pathways regulating expression of TESC Gene:

TESC

SOURCE GeneReport for Unigene cluster for TESC Gene:

Hs.525709

mRNA Expression by UniProt/SwissProt for TESC Gene:

Q96BS2-CHP3_HUMAN
Tissue specificity: Expressed in mature megakaryocytes and polymorphonuclear granulocytes (at protein level). Abundantly expressed in heart. Also expressed at a lower level in adult testis and salivary gland, and in the placenta.

Evidence on tissue expression from TISSUES for TESC Gene

  • Lung(2.1)
genes like me logo Genes that share expression patterns with TESC: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TESC Gene

Orthologs for TESC Gene

This gene was present in the common ancestor of chordates.

Orthologs for TESC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TESC 33 32
  • 99.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TESC 33 32
  • 92.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TESC 33 32
  • 91.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tesc 17 33 32
  • 90.81 (n)
rat
(Rattus norvegicus)
Mammalia Tesc 32
  • 90.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TESC 33
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves TESC 33 32
  • 76.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TESC 33
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tesc 32
  • 68.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24323 32
zebrafish
(Danio rerio)
Actinopterygii tescb 33 32
  • 60.09 (n)
OneToMany
tesca 33
  • 50 (a)
OneToMany
Species where no ortholog for TESC 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TESC Gene

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

Paralogs for TESC Gene

Paralogs for TESC Gene

(3) SIMAP similar genes for TESC Gene using alignment to 4 proteins:

  • CHP3_HUMAN
  • E9PQ58_HUMAN
  • H0YIX4_HUMAN
  • J3KPN1_HUMAN
genes like me logo Genes that share paralogs with TESC: view

Variants for TESC Gene

Sequence variations from dbSNP and Humsavar for TESC Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000027491 -- 117,071,857(-) A/C intron_variant
rs1000064354 -- 117,069,323(-) T/C intron_variant
rs1000156292 -- 117,064,603(-) C/T intron_variant
rs1000178817 -- 117,069,144(-) A/C intron_variant
rs1000190171 -- 117,049,391(-) AGAGAGAGAGA/AGAGAGAGA intron_variant

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

Variant ID Type Subtype PubMed ID
esv3549841 CNV deletion 23714750
esv3630863 CNV gain 21293372
nsv519118 CNV loss 19592680
nsv832524 CNV gain 17160897
nsv832526 CNV loss 17160897

Variation tolerance for TESC Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TESC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TESC Gene

Additional Disease Information for TESC

No disorders were found for TESC Gene.

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

Publications for TESC Gene

  1. The Na+/H+ exchanger cytoplasmic tail: structure, function, and interactions with tescalcin. (PMID: 12809501) Li X … Fliegel L (Biochemistry 2003) 2 3 4 23 56
  2. Human homolog of mouse tescalcin associates with Na(+)/H(+) exchanger type-1. (PMID: 11696366) Mailänder J … Dedio J (FEBS letters 2001) 2 3 4 23 56
  3. Up- or downregulation of tescalcin in HL-60 cells is associated with their differentiation to either granulocytic or macrophage-like lineage. (PMID: 20060826) Levay K … Slepak VZ (Experimental cell research 2010) 3 4 23 56
  4. Tescalcin is an essential factor in megakaryocytic differentiation associated with Ets family gene expression. (PMID: 17717601) Levay K … Slepak VZ (The Journal of clinical investigation 2007) 3 4 23 56
  5. Characterization of tescalcin, a novel EF-hand protein with a single Ca2+-binding site: metal-binding properties, localization in tissues and cells, and effect on calcineurin. (PMID: 14661968) Gutierrez-Ford C … Slepak VZ (Biochemistry 2003) 2 3 4 56

Products for TESC Gene

Sources for TESC Gene