Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	29893
Gene name	PSMC3 interacting protein
Gene symbol	PSMC3IP
Synonyms (NCBI Gene)	GT198HOP2HUMGT198AODG3TBPIP
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

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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

Show/Hide all (17)

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

MIM	HGNC	e!Ensembl
608665	17928	ENSG00000131470

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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ovarian dysgenesis 3	Pathogenic	rs2093045125, rs1597722169	RCV000023720 RCV001002738

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs9903184	RCV005909833
Clear cell carcinoma of kidney	Benign	rs9903184	RCV005909834
Colon adenocarcinoma	Benign	rs9903184	RCV005909832
Gastric cancer	Benign	rs9903184	RCV005909836
Lung cancer	Benign	rs9903184	RCV005909838
PSMC3IP-related disorder	Likely benign; Benign	rs149332082, rs146056067, rs200088437	RCV003904244 RCV003926138 RCV004758078
Sarcoma	Benign	rs9903184	RCV005909835
Thyroid cancer, nonmedullary, 1	Benign	rs9903184	RCV005909837
Uterine corpus endometrial carcinoma	Benign	rs9903184	RCV005909839

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amenorrhea	Associate	24481226, 29240891, 35352317
Arrest of spermatogenesis	Associate	35413094
Azoospermia	Associate	29240891, 35413094
Breast Neoplasms	Associate	25590583, 27001628
Carcinoma Renal Cell	Associate	24097974
Cysts	Associate	24097974
Fallopian Tube Neoplasms	Associate	24097974
Gonadal Dysgenesis	Associate	29240891
Gonadal Dysgenesis 46 XX	Associate	39529088
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24097974, 27001628
Infertility	Associate	35352317
Neoplasms	Inhibit	24097974
Neoplasms	Associate	27001628
Ovarian Neoplasms	Associate	24097974, 27001628
Primary Ovarian Insufficiency	Associate	29240891, 30406445, 35352317
Puberty Delayed	Associate	29240891
Squamous Cell Carcinoma of Head and Neck	Associate	34079088

PSMC3IP (PSMC3 interacting protein)