Gene
PSMC3IP
PSMC3 interacting protein
- HGNC 17928↗(opens in a new tab)
- Ensembl gene ENSG00000131470↗(opens in a new tab)
- NCBI Gene 29893↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.2
- Coordinates
- Chromosome 17: 42,572,310–42,577,729 (GRCh38)
- Exons
- 8 exons across 5.4 kb
- Protein
- 217 amino acids
- Also known as
- TBPIP, GT198, HUMGT198A, Hop2
- MANE Select transcript
- ENST00000393795.8NM_016556.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Female Infertility
Diminished or absent ability of a female to achieve conception.
- 2 GenCC submitters rate it definitive or strong
How PSMC3IP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.4 kb of the gene's 5.4 kb; 654 of those bases code for the protein.
How a genome test reads PSMC3IP
3
positions in PSMC3IP where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 5.4 kb of PSMC3IP, introns included, not only the 1.4 kb of exons.
Genes linked to the same conditions
- ANKRD31ankyrin repeat domain 31Shares 1 condition
- ATMATM serine/threonine kinaseShares 1 condition
- BMP15bone morphogenetic protein 15Shares 1 condition
- BNC1basonuclin zinc finger protein 1Shares 1 condition
- CLPPcaseinolytic mitochondrial matrix peptidase proteolytic subunitShares 1 condition
- CYP19A1cytochrome P450 family 19 subfamily A member 1Shares 1 condition
- FANCMFA complementation group MShares 1 condition
- FIGLAfolliculogenesis specific bHLH transcription factorShares 1 condition
- FMR1fragile X messenger ribonucleoprotein 1Shares 1 condition
- FOXL2forkhead box L2Shares 1 condition
- FSHRfollicle stimulating hormone receptorShares 1 condition
- GALTgalactose-1-phosphate uridylyltransferaseShares 1 condition
Traits linked to PSMC3IP
The Human Phenotype Ontology lists these as features of the rare conditions PSMC3IP can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PSMC3IP gene: PSMC3 interacting protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/psmc3ip
Dante Labs. PSMC3IP gene: PSMC3 interacting protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/psmc3ip
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