2. Gene
  3. PSMC3IP - PSMC3 interacting protein Gene

PSMC3IP - PSMC3 interacting protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PSMC3IP Protein Structure

TBPIP

TBPIP: Tat binding protein 1(TBP-1)-interacting protein (TBPIP) (12 - 180)

  • 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