GINS2 GINS complex subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GINS2provided by HGNC
Official Full Name: GINS complex subunit 2provided by HGNC
Primary source: HGNC:HGNC:24575
See related: Ensembl:ENSG00000131153 MIM:610609; AllianceGenome:HGNC:24575
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: PSF2; Pfs2; HSPC037
Summary: The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
Expression: Broad expression in bone marrow (RPKM 11.1), lymph node (RPKM 10.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (85676198..85688954, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (91741711..91754467, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (85709804..85722560, complement)

Chromosome 16 - NC_000016.10 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?

Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma.
Title: Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma.
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Title: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
GINS2 regulates the proliferation and apoptosis of colon cancer cells through PTP4A1.
Title: GINS2 regulates the proliferation and apoptosis of colon cancer cells through PTP4A1.
GINS Complex Subunit 2 Facilitates Gastric Adenocarcinoma Proliferation and Indicates Poor Prognosis.
Title: GINS Complex Subunit 2 Facilitates Gastric Adenocarcinoma Proliferation and Indicates Poor Prognosis.
MicroRNA miR-502-5p inhibits ovarian cancer genesis by downregulation of GINS complex subunit 2.
Title: MicroRNA miR-502-5p inhibits ovarian cancer genesis by downregulation of GINS complex subunit 2.
GINS2 was regulated by lncRNA XIST/miR-23a-3p to mediate proliferation and apoptosis in A375 cells.
Title: GINS2 was regulated by lncRNA XIST/miR-23a-3p to mediate proliferation and apoptosis in A375 cells.
GINS2 affects cell proliferation, apoptosis, migration and invasion in thyroid cancer via regulating MAPK signaling pathway.
Title: GINS2 affects cell proliferation, apoptosis, migration and invasion in thyroid cancer via regulating MAPK signaling pathway.
Knockdown of GINS2 inhibits proliferation and promotes apoptosis through the p53/GADD45A pathway in non-small-cell lung cancer.
Title: Knockdown of GINS2 inhibits proliferation and promotes apoptosis through the p53/GADD45A pathway in non-small-cell lung cancer.
GINS2 facilitates epithelial-to-mesenchymal transition in non-small-cell lung cancer through modulating PI3K/Akt and MEK/ERK signaling.
Title: GINS2 facilitates epithelial-to-mesenchymal transition in non-small-cell lung cancer through modulating PI3K/Akt and MEK/ERK signaling.
GINS2 is closely related to the occurrence and development of glioma, and is likely to become a prognostic marker for glioma patients, as well as a potential therapeutic target in the treatment of glioma
Title: Loss of GINS2 inhibits cell proliferation and tumorigenesis in human gliomas.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

STS-W81647 (e-PCR)
- UniSTS:16905

G54055 (e-PCR)
- UniSTS:109437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA unwinding involved in DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA unwinding involved in DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in double-strand break repair via break-induced replication	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of CMG complex	IPI Inferred from Physical Interaction more info	PubMed
part_of CMG complex	ISS Inferred from Sequence or Structural Similarity more info
part_of GINS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GINS complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: DNA replication complex GINS protein PSF2

Names: GINS complex subunit 2 (Psf2 homolog)

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_016095.3 → NP_057179.1 DNA replication complex GINS protein PSF2

See identical proteins and their annotated locations for NP_057179.1

Status: VALIDATED

Source sequence(s)

AC123908, AF201939, BC010164

Consensus CDS

CCDS10953.1

UniProtKB/Swiss-Prot

D3DUM5, Q6IAG9, Q9Y248

UniProtKB/TrEMBL

Q53G08

Related

ENSP00000253462.3, ENST00000253462.8

Conserved Domains (2) summary

cd11712
Location:55 → 174

GINS_A_psf2; Alpha-helical domain of GINS complex protein Psf2 (partner of Sld5 2)

cd21694
Location:2 → 63

GINS_B_Psf2; beta-strand (B) domain of GINS complex protein Psf2