Gene
PLXND1
plexin D1
- HGNC 9107(opens in a new tab)
- Ensembl gene ENSG00000004399(opens in a new tab)
- NCBI Gene 23129(opens in a new tab)
Summary
- Cytogenetic location
- 3q22.1
- Coordinates
- Chromosome 3: 129,555,214–129,606,676 (GRCh38)
- Exons
- 36 exons across 51.5 kb
- Protein
- 1,925 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- KIAA0620
- MANE Select transcript
- ENST00000324093.9NM_015103.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Hypogonadotropic Hypogonadism
- Mobius SyndromeAutosomal dominant
Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How PLXND1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 6.9 kb of the gene's 51.5 kb; 5,778 of those bases code for the protein.
Traits linked to PLXND1
The Human Phenotype Ontology lists these as features of the rare conditions PLXND1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Truncus arteriosus
- Abnormal heart valve morphology
- Abnormal heart valve physiology
- Abnormality of the heart
- Elevated heart rate
- Anomalous origin of one pulmonary artery from ascending aorta
- Aortic regurgitation
- Enlarged heart
Show 26 more traits
- Hole in heart wall separating two lower heart chambers
- Right aortic arch
- Right ventricular hypertrophy
- Underdeveloped left heart
- Aberrant right subclavian artery
- Abnormal coronary artery morphology
- Abnormal superior vena cava morphology
- An opening in the wall separating the top two chambers of the heart
- Aortopulmonary collateral arteries
- Double outlet right ventricle
- Interrupted aortic arch
- Left axis deviation
- Mitral atresia
- Narrowing of lung artery
- Narrowing of pulmonic valve
- Patent ductus arteriosus
- Persistent left superior vena cava
- Pulmonary artery atresia
- Single coronary artery origin
- Single ventricle of indeterminate morphology
- Small thymus
- Tetralogy of Fallot
- Transposition of the great arteries
- Unbalanced atrioventricular canal defect
- Anomalous origin of the left common carotid artery from the brachiocephalic artery
- Underdeveloped lung artery
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.
- 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.). PLXND1 gene: plexin D1. Retrieved 16 October 2026, from https://dantelabs.com/genes/plxnd1
Dante Labs. PLXND1 gene: plexin D1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/plxnd1
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