PSMC3IP - PSMC3 interacting protein Gene

Homo sapiens

Also known as HOP2; ODG3; GT198; TBPIP; HUMGT198A

Gene ID: 29893 | Gene type: protein coding

About PSMC3IP

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,572,310-42,577,831 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 12.8), small intestine (RPKM 12.7) and 25 other tissues.

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 also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]

PSMC3IP Products(5)

mRNA	Protein	Name
NM_001256014.2	NP_001242943.1	homologous-pairing protein 2 homolog isoform 3
NM_001256015.2	NP_001242944.1	homologous-pairing protein 2 homolog isoform 4
NM_001256016.2	NP_001242945.1	homologous-pairing protein 2 homolog isoform 4
NM_013290.7	NP_037422.2	homologous-pairing protein 2 homolog isoform 1
NM_016556.4	NP_057640.1	homologous-pairing protein 2 homolog isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables nuclear receptor coactivator activity	IMP IMP: Inferred from mutant phenotype	21963259	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16407260	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in homologous chromosome pairing at meiosis	IDA IDA: Inferred from direct assay	16407260	GOA
involved in reciprocal meiotic recombination	IDA IDA: Inferred from direct assay	16407260	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSMC3IP Protein Structure

TBPIP

0
100
200
217 a.a.

Protein Preferred Names

Protein Names

homologous-pairing protein 2 homolog

DBD-interacting

Related Diseases

Diseases

Alias

Ovarian Dysgenesis 3

ODG3	Dysgenesis, Ovarian, Type 3

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development	46,Xx Gonadal Dysgenesis
SRXX1	46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
46,Xx Testicular Dsd	Xx Male Syndrome
46,Xx Complete Gonadal Dysgenesis	46,Xx Pure Gonadal Dysgenesis
Follicular Stimulating Hormone-Resistant Ovaries	Hypergonadotropic Ovarian Dysgenesis
Ovotesticular Disorder Of Sex Development	46,Xx Sex Reversal, Sry-Positive
Xx Male, Sry-Positive	46xx Sex Reversal 1
46, Xx Gonadal Sex Reversal	Xx Sex Reversal
46,Xx Ovarian Dysgenesis	Fsh-Ro
Xx Female Gonadal Dysgenesis	Xx-Gd
46,Xx Ovotesticular Disorder Of Sex Development	46,Xx Ovotesticular Dsd
De La Chapelle Syndrome	Xx, Male Syndrome
46,Xx Gonadal Dysgenesis Complete Sry-Positive	46,Xx Sex Reversal Sry-Positive
46,Xx True Hermaphroditism Sry-Positive	Ovotesticular Dsd
Xx Male Sry-Positive	Ovotesticular Disorders Of Sex Development
46, Xx Testicular Disorders Of Sex Development	Resistant Ovary Syndrome
Dysgenetic Ovaries	Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
True Hermaphroditism	Ovotestis
True Hermaphrodite

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Uterine Hypoplasia

Granulomatous Disease, Chronic, Autosomal Recessive, 3

CGD3	Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii	Granulomatous Disease, Chronic, Due To Ncf4 Deficiency
Chronic Granulomatous Disease 3, Autosomal Recessive	Autosomal Recessive Chronic Granulomatous Disease 3
Autosomal Recessive Cytochrome B-Positive Cgd Type Iii	Cdg3
Chronic Granulomatous Disease Due To Ncf4 Deficiency	Cgd Autosomal Recessive Cytochrome B-Positive Type Iii
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii	Granulomatous Disease Chronic Due To Ncf4 Deficiency
Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11313	PSMC3IP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PSMC3IP	VGNC	VGNC:64414
Rattus norvegicus	PSMC3IP	RGD	RGD:621885
Canis familiaris	PSMC3IP	VGNC	VGNC:45103
Macaca mulatta	PSMC3IP	VGNC	VGNC:76282
Bos taurus	PSMC3IP	VGNC	VGNC:33457
Mus musculus	PSMC3IP	MGD	MGI:1098610

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