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PSMC3IP

Chr 17q21.2

PSMC3 interacting protein

Aliases:
TBPIP, GT198, HUMGT198A, Hop2
MANE:
ENST00000393795.8
OMIM: 608665 ↗NCBI: 29893 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary ovarian insufficiency

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • 46,XX gonadal dysgenesis

    0.67

  • 46 XX gonadal dysgenesis

    0.44

  • neurodegenerative disease

    0.27

  • primary ovarian failure

    0.20

  • diabetes mellitus

    0.14

  • type 2 diabetes mellitus

    0.13

  • neoplasm

    0.08

  • spermatogenic failure

    0.07

  • male infertility with azoospermia or oligozoospermia due to single gene mutation

    0.07

  • partial chromosome Y deletion

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Homologous-pairing protein 2 homolog

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 DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.