Gene
SNRPN
small nuclear ribonucleoprotein polypeptide N
- HGNC 11164↗(opens in a new tab)
- Ensembl gene ENSG00000128739↗(opens in a new tab)
- NCBI Gene 6638↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q11.2
- Coordinates
- Chromosome 15: 24,954,987–24,978,723 (GRCh38)
- Exons
- 10 exons across 23.7 kb
- Protein
- 240 amino acids
- Also known as
- SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI
- Previous symbols
- PWCR
- MANE Select transcript
- ENST00000390687.9NM_003097.6
- 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
Hypogonadotropic Hypogonadism
Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
- 1 GenCC submitter rates it definitive or strong
Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-Wiedemann
- Prader-Willi syndrome
A condition caused by loss of the paternally inherited 15q11-q13 region, causing low muscle tone and feeding difficulties in infancy followed by excessive appetite, obesity, short stature, hypogonadism and learning difficulties.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Early diagnosis allows growth hormone treatment, dietary management and hormone monitoring.
How SNRPN 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 1.5 kb of the gene's 23.7 kb; 723 of those bases code for the protein.
Genes linked to the same conditions
- MAGEL2MAGE family member L2Shares 2 conditions
- ANOS1anosmin 1Shares 1 condition
- ARHGAP35Rho GTPase activating protein 35Shares 1 condition
- CHD7chromodomain helicase DNA binding protein 7Shares 1 condition
- CPEcarboxypeptidase EShares 1 condition
- DCAF17DDB1 and CUL4 associated factor 17Shares 1 condition
- FEZF1FEZ family zinc finger 1Shares 1 condition
- FGF17fibroblast growth factor 17Shares 1 condition
- FGF8fibroblast growth factor 8Shares 1 condition
- FGFR1fibroblast growth factor receptor 1Shares 1 condition
- FOXA2forkhead box A2Shares 1 condition
- FSHBfollicle stimulating hormone subunit betaShares 1 condition
Traits linked to SNRPN
The Human Phenotype Ontology lists these as features of the rare conditions SNRPN can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Increased appetite
- Ventriculomegaly
- Abnormal temper tantrums
- Autism
- Autism spectrum disorder
- Behavioral abnormality
- Binge and purge
- Delayed ability to walk
Show 49 more traits
- Difficulty sleeping
- EEG abnormality
- Epilepsy
- Global developmental delay
- Happy demeanor
- Inappropriate laughter
- Intellectual disability, borderline
- Intellectual disability, mild
- IQ between 34 and 49
- Obsessive-compulsive trait
- Occipital cortical atrophy
- Parietal cortical atrophy
- Perisylvian polymicrogyria
- Psychosis
- Self-injurious behavior
- Skin-picking
- Specific learning disability
- Speech articulation difficulties
- Abnormal social behavior
- Absent speech development
- Anxiety
- Ataxia
- Attention deficit
- Brain imaging abnormality
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Delayed speech and language development
- Head-banging
- Hyperorality
- Impaired temperature sensation
- Increased reflexes
- Intellectual disability, severe
- Lateral ventricle dilatation
- More active than typical
- Obsessive compulsive behavior
- Obstructive sleep apnea
- Poor social interactions
- Poor speech
- Repetitive movements
- Short attention span
- Sleep-wake cycle disturbance
- Wide based walk
- Widened subarachnoid space
- Impaired use of nonverbal behaviors
- Inflexible adherence to routines
- Intellectual disability
- Lack of spontaneous play
- Reduced ability to form peer relationships
- Restrictive behavior
Abnormality of head or neck
- Abnormal facial shape
- Almond shaped eyes
- Downturned corners of mouth
- Narrow forehead
- Thin red part of the upper lip
- Abnormally small head
- Bifid uvula
- Big lower jaw
Show 22 more traits
- Broad nasal tip
- Cleft palate
- Decreased width of baby teeth
- Dental cavities
- Drooling
- Drooping lower lip
- Flat back of skull
- Head stopped growing
- High palate
- Increased size of gum ridge
- Little lower jaw
- Narrow nasal bridge
- Nasal tip, upturned
- Prominent nose
- Receding chin
- Short neck
- Short nose
- Skin tag in front of the ear
- Triangular-shaped open mouth
- Underdeveloped nasolabial fold
- Upward slanting of the opening between the eyelids
- Wide mouth
Abnormality of the eye
- Abnormality of vision
- Cross-eyed
- Light eye color
- Abnormally close eyes
- Bulging eye
- Cerebral visual impairment
- Close sighted
- Deeply set eye
Show 3 more traits
Abnormality of the genitourinary system
- Undescended testes
- Decreased testicular size
- Infertility
- Primary amenorrhea
- Small clitoris
- Smaller than typical growth of scrotum
- Underdeveloped inner lips
- Underdevelopment of external reproductive organs
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.
- 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.). SNRPN gene: small nuclear ribonucleoprotein polypeptide N. Retrieved 17 October 2026, from https://dantelabs.com/genes/snrpn
Dante Labs. SNRPN gene: small nuclear ribonucleoprotein polypeptide N [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/snrpn
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