PSMC3IP (PSMC3 interacting protein)

Gene

• Entrez ID: 29893
• Gene name: PSMC3 interacting protein
• Gene symbol: PSMC3IP
• Synonyms (NCBI Gene): GT198, HOP2, HUMGT198A, ODG3, TBPIP
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can al

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016392	hsa-miR-193b-3p	Microarray	20304954
MIRT024674	hsa-miR-215-5p	Microarray	19074876
MIRT026333	hsa-miR-192-5p	Microarray	19074876
MIRT042239	hsa-miR-484	CLASH	23622248
MIRT1270345	hsa-miR-203	CLIP-seq
MIRT1270346	hsa-miR-217	CLIP-seq
MIRT1270347	hsa-miR-3150a-5p	CLIP-seq
MIRT1270348	hsa-miR-3150b-5p	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270350	hsa-miR-3691-3p	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT1270352	hsa-miR-4418	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT1270354	hsa-miR-4799-5p	CLIP-seq
MIRT1270355	hsa-miR-509-3-5p	CLIP-seq
MIRT1270356	hsa-miR-509-5p	CLIP-seq
MIRT1270357	hsa-miR-1200	CLIP-seq
MIRT1270358	hsa-miR-296-5p	CLIP-seq
MIRT1270359	hsa-miR-3125	CLIP-seq
MIRT1270360	hsa-miR-3916	CLIP-seq
MIRT1270361	hsa-miR-4290	CLIP-seq
MIRT1270362	hsa-miR-4324	CLIP-seq
MIRT1270363	hsa-miR-4464	CLIP-seq
MIRT1270364	hsa-miR-4748	CLIP-seq
MIRT1270365	hsa-miR-4765	CLIP-seq
MIRT1270366	hsa-miR-4786-3p	CLIP-seq
MIRT1270367	hsa-miR-520a-5p	CLIP-seq
MIRT1270368	hsa-miR-525-5p	CLIP-seq
MIRT1270369	hsa-miR-544b	CLIP-seq
MIRT2457352	hsa-miR-150	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT2457353	hsa-miR-4264	CLIP-seq
MIRT2457354	hsa-miR-4302	CLIP-seq
MIRT2457355	hsa-miR-4423-5p	CLIP-seq
MIRT2457356	hsa-miR-4652-3p	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq
MIRT2457358	hsa-miR-4757-5p	CLIP-seq
MIRT2457359	hsa-miR-4763-5p	CLIP-seq
MIRT2457360	hsa-miR-4797-3p	CLIP-seq
MIRT2457361	hsa-miR-532-3p	CLIP-seq
MIRT2457352	hsa-miR-150	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT2457356	hsa-miR-4652-3p	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq
MIRT2457358	hsa-miR-4757-5p	CLIP-seq
MIRT2457361	hsa-miR-532-3p	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT2457356	hsa-miR-4652-3p	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000709	Process	Meiotic joint molecule formation	IBA
GO:0000794	Component	Condensed nuclear chromosome	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003713	Function	Transcription coactivator activity	IMP	21963259
GO:0005515	Function	Protein binding	IPI	16407260, 26496610, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006310	Process	DNA recombination	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IDA	16407260
GO:0007131	Process	Reciprocal meiotic recombination	IDA	16407260
GO:0010774	Process	Meiotic strand invasion involved in reciprocal meiotic recombination	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0120230	Function	Recombinase activator activity	IBA
GO:0120231	Component	DNA recombinase auxiliary factor complex	IBA

Other IDs

• MIM: 608665
• HGNC: 17928
• e!Ensembl: ENSG00000131470

Protein

• UniProt ID: Q9P2W1
• Protein name: Homologous-pairing protein 2 homolog (Nuclear receptor coactivator GT198) (PSMC3-interacting protein) (Proteasome 26S ATPase subunit 3-interacting protein) (Tat-binding protein 1-interacting protein) (TBP-1-interacting protein)
• Protein function: Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07106	TBPIP	11 → 74	TBPIP/Hop2 winged helix domain	Domain
  PF18517	LZ3wCH	154 → 211	Leucine zipper with capping helix domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and colon. {ECO:0000269|PubMed:11739747, ECO:0000269|PubMed:7490091}.
• Sequence:

  MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKI
  KEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSA
  LTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMA
  TELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP

• Sequence length: 217

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ovarian dysgenesis 3	Pathogenic	rs2093045125, rs1597722169	RCV000023720 RCV001002738	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46 XX GONADAL DYSGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMC3IP-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	24481226, 29240891, 35352317	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	18941885, 29240891		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	29240891, 35413094	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25590583, 27001628, 30362169		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25590583, 27001628	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24097974		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24097974	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24097974		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	24097974		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fallopian Tube Carcinoma	Fallopian Tube Carcinoma	BEFREE	24097974		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	29240891	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis 46 XX	46, xx gonadal dysgenesis	Pubtator	39529088	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	23332201		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	ORPHANET_DG	21963259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	BEFREE	29240891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24097974, 27001628	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35352317	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30362169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25590583, 27001628, 30362169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24097974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28881671		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27001628		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24097974, 27001628, 30362169		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
OVARIAN DYSGENESIS 3	Ovarian Dysgenesis	GENOMICS_ENGLAND_DG	24481226		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OVARIAN DYSGENESIS 3	Ovarian Dysgenesis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Failure, Premature	Ovarian Failure	BEFREE	21963259, 24481226, 29240891		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	GENOMICS_ENGLAND_DG	24481226		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24097974		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24097974, 27001628	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	21963259, 24481226		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	ORPHANET_DG	21963259		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34079088	Associate	★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25590583		★☆☆☆☆ Found in Text Mining only