GINS2 (GINS complex subunit 2)

Gene

• Entrez ID: 51659
• Gene name: GINS complex subunit 2
• Gene symbol: GINS2
• Synonyms (NCBI Gene): HSPC037, PSF2, Pfs2
• Chromosome: 16
• Chromosome location: 16q24.1
• 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 extract

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016400	hsa-miR-193b-3p	Microarray	20304954
MIRT040250	hsa-miR-615-3p	CLASH	23622248
MIRT677709	hsa-miR-625-3p	HITS-CLIP	23824327
MIRT677708	hsa-miR-22-3p	HITS-CLIP	23824327
MIRT677707	hsa-miR-1295b-3p	HITS-CLIP	23824327
MIRT677706	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT677705	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT677704	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT677703	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677702	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677701	hsa-miR-1976	HITS-CLIP	23824327
MIRT677700	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT677699	hsa-miR-4279	HITS-CLIP	23824327
MIRT668141	hsa-miR-142-3p	HITS-CLIP	23824327
MIRT668140	hsa-miR-548ac	HITS-CLIP	23824327
MIRT668139	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT668138	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT668137	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT668136	hsa-miR-548z	HITS-CLIP	23824327
MIRT668135	hsa-miR-3200-3p	HITS-CLIP	23824327
MIRT668134	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT668133	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT668132	hsa-miR-3591-5p	HITS-CLIP	23824327
MIRT496520	hsa-miR-3929	PAR-CLIP	22291592
MIRT496519	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496518	hsa-miR-4478	PAR-CLIP	22291592
MIRT496517	hsa-miR-6849-3p	PAR-CLIP	22291592
MIRT496516	hsa-miR-3190-5p	PAR-CLIP	22291592
MIRT496515	hsa-miR-198	PAR-CLIP	22291592
MIRT496514	hsa-miR-6512-3p	PAR-CLIP	22291592
MIRT496513	hsa-miR-6720-5p	PAR-CLIP	22291592
MIRT677709	hsa-miR-625-3p	HITS-CLIP	23824327
MIRT677708	hsa-miR-22-3p	HITS-CLIP	23824327
MIRT677707	hsa-miR-1295b-3p	HITS-CLIP	23824327
MIRT677706	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT677705	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT677704	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT677703	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677702	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677701	hsa-miR-1976	HITS-CLIP	23824327
MIRT677700	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT677699	hsa-miR-4279	HITS-CLIP	23824327
MIRT668141	hsa-miR-142-3p	HITS-CLIP	23824327
MIRT668140	hsa-miR-548ac	HITS-CLIP	23824327
MIRT668139	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT668138	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT668137	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT668136	hsa-miR-548z	HITS-CLIP	23824327
MIRT668135	hsa-miR-3200-3p	HITS-CLIP	23824327
MIRT668134	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT668133	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT668132	hsa-miR-3591-5p	HITS-CLIP	23824327
MIRT496520	hsa-miR-3929	PAR-CLIP	22291592
MIRT496519	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496518	hsa-miR-4478	PAR-CLIP	22291592
MIRT496517	hsa-miR-6849-3p	PAR-CLIP	22291592
MIRT496516	hsa-miR-3190-5p	PAR-CLIP	22291592
MIRT496515	hsa-miR-198	PAR-CLIP	22291592
MIRT496514	hsa-miR-6512-3p	PAR-CLIP	22291592
MIRT496513	hsa-miR-6720-5p	PAR-CLIP	22291592
MIRT1019196	hsa-miR-1286	CLIP-seq
MIRT1019197	hsa-miR-135a	CLIP-seq
MIRT1019198	hsa-miR-135b	CLIP-seq
MIRT1019199	hsa-miR-2115	CLIP-seq
MIRT1019200	hsa-miR-3185	CLIP-seq
MIRT1019201	hsa-miR-3190	CLIP-seq
MIRT1019202	hsa-miR-3194-3p	CLIP-seq
MIRT1019203	hsa-miR-4491	CLIP-seq
MIRT1019204	hsa-miR-4657	CLIP-seq
MIRT1019205	hsa-miR-4709-3p	CLIP-seq
MIRT1019206	hsa-miR-4722-5p	CLIP-seq
MIRT1019207	hsa-miR-4768-3p	CLIP-seq
MIRT1019208	hsa-miR-576-3p	CLIP-seq
MIRT1019209	hsa-miR-595	CLIP-seq
MIRT1019210	hsa-miR-760	CLIP-seq
MIRT2001803	hsa-miR-1185	CLIP-seq
MIRT2001804	hsa-miR-1237	CLIP-seq
MIRT2001805	hsa-miR-1248	CLIP-seq
MIRT1019196	hsa-miR-1286	CLIP-seq
MIRT2001806	hsa-miR-1321	CLIP-seq
MIRT1019197	hsa-miR-135a	CLIP-seq
MIRT1019198	hsa-miR-135b	CLIP-seq
MIRT1019199	hsa-miR-2115	CLIP-seq
MIRT2001807	hsa-miR-3119	CLIP-seq
MIRT2001808	hsa-miR-3125	CLIP-seq
MIRT2001809	hsa-miR-3157-5p	CLIP-seq
MIRT2001810	hsa-miR-3158-3p	CLIP-seq
MIRT2001811	hsa-miR-3162-5p	CLIP-seq
MIRT1019202	hsa-miR-3194-3p	CLIP-seq
MIRT2001812	hsa-miR-3679-5p	CLIP-seq
MIRT2001813	hsa-miR-3916	CLIP-seq
MIRT2001814	hsa-miR-4310	CLIP-seq
MIRT2001815	hsa-miR-4420	CLIP-seq
MIRT2001816	hsa-miR-4677-3p	CLIP-seq
MIRT2001817	hsa-miR-4679	CLIP-seq
MIRT2001818	hsa-miR-4690-3p	CLIP-seq
MIRT2001819	hsa-miR-4699-3p	CLIP-seq
MIRT1019206	hsa-miR-4722-5p	CLIP-seq
MIRT2001820	hsa-miR-4724-5p	CLIP-seq
MIRT2001821	hsa-miR-4739	CLIP-seq
MIRT2001822	hsa-miR-4756-5p	CLIP-seq
MIRT1019207	hsa-miR-4768-3p	CLIP-seq
MIRT2001823	hsa-miR-4769-3p	CLIP-seq
MIRT2001824	hsa-miR-4777-5p	CLIP-seq
MIRT2001825	hsa-miR-4799-5p	CLIP-seq
MIRT2001826	hsa-miR-518d-5p	CLIP-seq
MIRT2001827	hsa-miR-519b-5p	CLIP-seq
MIRT2001828	hsa-miR-519c-5p	CLIP-seq
MIRT2001829	hsa-miR-520c-5p	CLIP-seq
MIRT2001830	hsa-miR-526a	CLIP-seq
MIRT1019209	hsa-miR-595	CLIP-seq
MIRT1019210	hsa-miR-760	CLIP-seq
MIRT2001831	hsa-miR-767-5p	CLIP-seq
MIRT2001832	hsa-miR-877	CLIP-seq
MIRT2001833	hsa-miR-942	CLIP-seq
MIRT2234850	hsa-miR-1200	CLIP-seq
MIRT1019202	hsa-miR-3194-3p	CLIP-seq
MIRT2234851	hsa-miR-339-3p	CLIP-seq
MIRT2234852	hsa-miR-3691-5p	CLIP-seq
MIRT2234853	hsa-miR-4324	CLIP-seq
MIRT2234854	hsa-miR-4711-5p	CLIP-seq
MIRT2234855	hsa-miR-4752	CLIP-seq
MIRT2234856	hsa-miR-544b	CLIP-seq
MIRT1019210	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA
GO:0000811	Component	GINS complex	IBA
GO:0000811	Component	GINS complex	IEA
GO:0000811	Component	GINS complex	IPI	17417653
GO:0005515	Function	Protein binding	IPI	16189514, 17525332, 22540012, 24299456, 25416956, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	22474384
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	17467990
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006260	Process	DNA replication	IDA	22474384
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	NAS	17467990
GO:0071162	Component	CMG complex	IEA
GO:0071162	Component	CMG complex	IPI	22474384
GO:0071162	Component	CMG complex	ISS

Other IDs

• MIM: 610609
• HGNC: 24575
• e!Ensembl: ENSG00000131153

Protein

• UniProt ID: Q9Y248
• Protein name: DNA replication complex GINS protein PSF2 (GINS complex subunit 2)
• Protein function: Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653). GINS complex is a core component of CDC45-MCM-GINS (CM
• PDB: 2E9X, 2EHO, 2Q9Q, 6XTX, 6XTY, 7PFO, 7PLO, 8B9D, 8OK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05916	Sld5	42 → 153	GINS complex protein	Family

• Sequence:

  MDAAEVEFLAEKELVTIIPNFSLDKIYLIGGDLGPFNPGLPVEVPLWLAINLKQRQKCRL
  LPPEWMDVEKLEKMRDHERKEETFTPMPSPYYMELTKLLLNHASDNIPKADEIRTLVKDM
  WDTRIAKLRVSADSFVRQQEAHAKLDNLTLMEINTSGTFLTQALNHMYKLRTNLQPLEST
  QSQDF

• Sequence length: 185

Pathways

Reactome:

Unwinding of DNA

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	24273454		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24377518, 25348432		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	1570316		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21082043, 24273454, 25348432, 27829549, 30013653		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21082043, 24273454, 34629365, 36466552	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33725952	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24273454	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28405687, 36466552	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30013653, 31703725		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	1570316		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	1570316	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28405687		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28405687		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35137928, 35496037, 37945594	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	34353863	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	1570316	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30013653		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21109493		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21109493		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36466552	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30338650		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36466552	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36092790	Inhibit	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	16077978		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24273454	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27829549		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	24273454	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28405687	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21082043, 24273454, 25348432, 27829549, 30013653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31703725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30177819		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19377277, 27829549		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28405687		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21082043, 25348432		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24273454	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27829549		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23589040		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23589040, 27007055, 27829549, 28405687, 28958469, 30668823, 31330065, 31681988		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28664225		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28427213, 31681988		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	31703725		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31703725, 34288816, 35137928	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35137928	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	30268476		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31810132	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	35896011	Stimulate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	1570316	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28405687		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34629365, 35137928	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	36466552	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30177819		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30177819		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33537829, 37745716	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27829549		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28405687, 33302814	Associate	★☆☆☆☆ Found in Text Mining only