TESC tescalcin [Homo sapiens (human)] - Gene

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 cellular response to retinoic acid; positive regulation of macromolecule metabolic process; and positive regulation of myeloid cell differentiation. Located in several cellular components, including cytosol; lamellipodium; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in salivary gland (RPKM 66.0), stomach (RPKM 63.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.22

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (117038923..117099416, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (117019980..117080464, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (117476728..117537221, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TESC acts as a prognostic factor and promotes epithelial-mesenchymal transition progression in esophageal squamous carcinoma.
Title: TESC acts as a prognostic factor and promotes epithelial-mesenchymal transition progression in esophageal squamous carcinoma.
Long non-coding RNA TUG1/microRNA-187-3p/TESC axis modulates progression of pituitary adenoma via regulating the NF-kappaB signaling pathway.
Title: Long non-coding RNA TUG1/microRNA-187-3p/TESC axis modulates progression of pituitary adenoma via regulating the NF-κB signaling pathway.
Tescalcin is an unfavorable prognosis factor that regulats cell proliferation and survival in hepatocellular carcinoma patients.
Title: Tescalcin is an unfavorable prognosis factor that regulats cell proliferation and survival in hepatocellular carcinoma patients.
Replication of a hippocampus specific effect of the tescalcin regulating variant rs7294919 on gray matter structure.
Title: Replication of a hippocampus specific effect of the tescalcin regulating variant rs7294919 on gray matter structure.
Study showed TESC as a novel regulator of c-Src/IGF1R-mediated STAT3 activation pathway, which enhances ALDH1 expression, consequently reinforces the cancer stem cell-like and radio-resistant properties.
Title: Tescalcin/c-Src/IGF1Rβ-mediated STAT3 activation enhances cancer stemness and radioresistant properties through ALDH1.
CHP3 bound with high affinity to CHP-binding domain of NHE1 with an equilibrium dissociation constant (KD) of 56 nM determined by microscale thermophoresis.
Title: Calcineurin B homologous protein 3 binds with high affinity to the CHP binding domain of the human sodium/proton exchanger NHE1.
These results indicated that the differential expression of TESC via the modification status of the promoter and histone methylation controled cell survival in gastric cancer cells
Title: Differential expression of tescalcin by modification of promoter methylation controls cell survival in gastric cancer cells.
These findings demonstrate that atopic expression of Tescalcin facilitates the survival, migration and invasion of renal cell carcinoma cells
Title: Suppression of Tescalcin inhibits growth and metastasis in renal cell carcinoma via downregulating NHE1 and NF-kB signaling.
This study found that the genotype of TESC at the rs7294919 locus and MDD had a significant interactive effect on the hippocampal subfield volume.
Title: TESC gene-regulating genetic variant (rs7294919) affects hippocampal subfield volumes and parahippocampal cingulum white matter integrity in major depressive disorder.
High Tescalcin expression is associated with colorectal cancer.
Title: Tescalcin expression contributes to invasive and metastatic activity in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148494 (e-PCR)
- UniSTS:176427

SHGC-82386 (e-PCR)
- UniSTS:104533

RH76322 (e-PCR)
- UniSTS:83888

RH91363 (e-PCR)
- UniSTS:91578

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	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: calcineurin B homologous protein 3

Names: calcineurin-like EF hand protein 3

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)

NM_001168325.2 → NP_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:85 → 132

EF-hand_7; EF-hand domain pair
NM_017899.4 → NP_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:20 → 142

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RNA

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

117038923..117099416 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429044.1 → XP_047285000.1 calcineurin B homologous protein 3 isoform X2
XM_017019532.2 → XP_016875021.2 calcineurin B homologous protein 3 isoform X1
XM_011538503.1 → XP_011536805.1 calcineurin B homologous protein 3 isoform X3

Conserved Domains (2) summary

COG5126
Location:7 → 130

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cl08302
Location:102 → 130

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 ...