Gene
NECTIN1
nectin cell adhesion molecule 1
- HGNC 9706↗(opens in a new tab)
- Ensembl gene ENSG00000110400↗(opens in a new tab)
- NCBI Gene 5818↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.3
- Coordinates
- Chromosome 11: 119,660,992–119,729,200 (GRCh38)
- Exons
- 6 exons across 68.2 kb
- Protein
- 517 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7, Nectin-1
- Previous symbols
- HVEC, ED4, PVRL1
- MANE Select transcript
- ENST00000264025.8NM_002855.5
- 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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Ectodermal Dysplasias
- Cleft lip/palate-ectodermal dysplasia syndromeAutosomal recessive
A NECTIN1 disorder combining cleft lip or palate with hair, tooth and nail anomalies.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How NECTIN1 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 kb of the gene's 68.2 kb; 1,554 of those bases code for the protein.
How a genome test reads NECTIN1
3
positions in NECTIN1 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 68.2 kb of NECTIN1, introns included, not only the 6 kb of exons.
Traits linked to NECTIN1
The Human Phenotype Ontology lists these as features of the rare conditions NECTIN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cleft lip
- Failure of development of between one and six teeth
- Little lower jaw
- Abnormality of tooth eruption
- Cleft upper lip
- Lip pit
- Abnormal dentition
- Abnormal of nasal shape
Show 38 more traits
- Abnormality of dental shape
- Abnormality of masticatory muscle
- Abnormality of the face
- Cheekbone underdevelopment
- Chewing difficulties
- Cleft of the mouth
- Cleft palate
- Dental cavities
- Disturbance of facial expression
- Downward slanting of the opening between the eyelids
- Highly arched eyebrow
- Limited hair on end of eyebrow
- Midface retrusion
- Monobrow
- Non-midline cleft of the upper lip
- One sided cleft palate
- Sparse or absent eyebrows
- Velopharyngeal incompetence
- Wide nasal bridge
- Abnormal number of permanent teeth
- Abnormal tooth enamel
- Abnormality of septum of nose
- Bad bite
- Both sided cleft lip
- Extra upper front tooth
- Failure of development of all teeth
- Hole in roof of mouth
- Increased size of tooth
- Missing lateral incisor
- Peg-shaped maxillary lateral incisors
- Right and left cleft palate
- Decreased size of maxilla
- Abnormality of the philtrum
- Decreased size of tooth
- Sparse eyebrow
- Sparse eyelashes
- Triangular face
- Zygomatic flattening
Abnormality of the nervous system
- Abnormal speech pattern
- Delayed speech and language development
- Intellectual disability
- Speech articulation difficulties
- Behavioral abnormality
- EEG abnormality
- Epilepsy
- Low self-esteem
Show 1 more trait
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.). NECTIN1 gene: nectin cell adhesion molecule 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/nectin1
Dante Labs. NECTIN1 gene: nectin cell adhesion molecule 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nectin1
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