Gene
NUP107
nucleoporin 107
- HGNC 29914(opens in a new tab)
- Ensembl gene ENSG00000111581(opens in a new tab)
- NCBI Gene 57122(opens in a new tab)
Summary
- Cytogenetic location
- 12q15
- Coordinates
- Chromosome 12: 68,686,978–68,745,809 (GRCh38)
- Exons
- 28 exons across 58.8 kb
- Protein
- 925 amino acids
- Also known as
- NUP84
- MANE Select transcript
- ENST00000229179.9NM_020401.4
- 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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Get my Genome TestCurated reports relevant to this gene
Female Infertility
Diminished or absent ability of a female to achieve conception.
- 1 GenCC submitter rates it definitive or strong
Nephrotic Syndrome
- Nephrosis
Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
- 1 GenCC submitter rates it definitive or strong
How NUP107 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 6.2 kb of the gene's 58.8 kb; 2,778 of those bases code for the protein.
How a genome test reads NUP107
7
positions in NUP107 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 58.8 kb of NUP107, introns included, not only the 6.2 kb of exons.
Traits linked to NUP107
The Human Phenotype Ontology lists these as features of the rare conditions NUP107 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Little lower jaw
- Narrow forehead
- Sloping forehead
- Smooth philtrum
- Periorbital edema
- Abnormal dentition
- Abnormal facial shape
Show 3 more traits
Abnormality of the musculoskeletal system
- Delayed bone maturation
- Low solidness and mass of the bones
- Osteopenia
- Osteoporosis of vertebrae
- Abnormal intervertebral disk morphology
- Funnel chest
- Kyphoscoliosis
- Low muscle tone
Show 2 more traits
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.). NUP107 gene: nucleoporin 107. Retrieved 17 October 2026, from https://dantelabs.com/genes/nup107
Dante Labs. NUP107 gene: nucleoporin 107 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nup107
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