PTTG2 pituitary tumor-transforming 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTTG2provided by HGNC
Official Full Name: pituitary tumor-transforming 2provided by HGNC
Primary source: HGNC:HGNC:9691
See related: Ensembl:ENSG00000250254 MIM:604231; AllianceGenome:HGNC:9691
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
Summary: Predicted to enable SH3 domain binding activity. Predicted to be involved in homologous chromosome segregation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 4p14

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (37960398..37961128)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (37929470..37930200)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (37962019..37962749)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PTTG2 induces psoriasis by regulating epidermal expression of vimentin and E-cadherin.
Title: Pituitary tumor transforming gene PTTG2 induces psoriasis by regulating vimentin and E-cadherin expression.
Knockdown of PTTG2 results in concomitant downregulation of E-cadherin and elevated vimentin levels, consistent with epithelial-to-mesenchymal transition.
Title: PTTG2 silencing results in induction of epithelial-to-mesenchymal transition and apoptosis.

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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
Genome-wide association study of periodontal pathogen colonization. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH35896 (e-PCR)
- UniSTS:8290

RH124070 (e-PCR)
- UniSTS:138880

NoName (e-PCR)
- UniSTS:481730

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
involved_in homologous chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: securin-2

Names: pituitary tumor-transforming gene 2 protein

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.