2. Gene
  3. SNRPN - small nuclear ribonucleoprotein polypeptide N Gene

SNRPN - small nuclear ribonucleoprotein polypeptide N Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SMN; PWCR; SM-D; sm-N; RT-LI; HCERN3; SNRNP-N; SNURF-SNRPN

Gene ID: 6638 | Gene type: protein coding

About SNRPN

Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:24,823,637-24,978,723 (from NCBI)

This gene has 12 transcripts (splice variants), 104 orthologues, 1 paralogue and is associated with 10 phenotypes.

Summary

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

SNRPN Products(112)

mRNA Protein Name
NM_001349454.2 NP_001336383.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349455.2 NP_001336384.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349456.2 NP_001336385.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349457.2 NP_001336386.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349458.2 NP_001336387.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349459.2 NP_001336388.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349460.2 NP_001336389.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349461.2 NP_001336390.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349462.2 NP_001336391.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349463.2 NP_001336392.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349464.2 NP_001336393.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001349465.2 NP_001336394.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001378249.1 NP_001365178.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001378251.1 NP_001365180.1 small nuclear ribonucleoprotein-associated protein N isoform a
NM_001378252.1 NP_001365181.1 small nuclear ribonucleoprotein-associated protein N isoform a
NM_001378253.1 NP_001365182.1 small nuclear ribonucleoprotein-associated protein N isoform a
NM_001378254.1 NP_001365183.1 small nuclear ribonucleoprotein-associated protein N isoform a
NM_001378255.1 NP_001365184.1 small nuclear ribonucleoprotein-associated protein N isoform a
NM_001378256.1 NP_001365185.1 small nuclear ribonucleoprotein-associated protein N isoform c
NM_001378257.1 NP_001365186.1 small nuclear ribonucleoprotein-associated protein N isoform c
NM_001400634.1 NP_001387563.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400635.1 NP_001387564.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400636.1 NP_001387565.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400637.1 NP_001387566.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400638.1 NP_001387567.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400639.1 NP_001387568.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400640.1 NP_001387569.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400641.1 NP_001387570.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400643.1 NP_001387572.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400644.1 NP_001387573.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400646.1 NP_001387575.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400647.1 NP_001387576.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400649.1 NP_001387578.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400650.1 NP_001387579.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400652.1 NP_001387581.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400683.1 NP_001387612.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400684.1 NP_001387613.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400685.1 NP_001387614.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400686.1 NP_001387615.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400687.1 NP_001387616.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400688.1 NP_001387617.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400689.1 NP_001387618.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400690.1 NP_001387619.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400691.1 NP_001387620.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400692.1 NP_001387621.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400693.1 NP_001387622.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400694.1 NP_001387623.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400695.1 NP_001387624.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400696.1 NP_001387625.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400697.1 NP_001387626.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400698.1 NP_001387627.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400701.1 NP_001387630.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400702.1 NP_001387631.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400703.1 NP_001387632.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400704.1 NP_001387633.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400706.1 NP_001387635.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400708.1 NP_001387637.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400710.1 NP_001387639.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400712.1 NP_001387641.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400713.1 NP_001387642.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400715.1 NP_001387644.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400716.1 NP_001387645.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400717.1 NP_001387646.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400718.1 NP_001387647.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400719.1 NP_001387648.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400720.1 NP_001387649.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400721.1 NP_001387650.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400722.1 NP_001387651.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400723.1 NP_001387652.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400724.1 NP_001387653.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400725.1 NP_001387654.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400726.1 NP_001387655.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400727.1 NP_001387656.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400728.1 NP_001387657.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400729.1 NP_001387658.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400730.1 NP_001387659.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400731.1 NP_001387660.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400732.1 NP_001387661.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400733.1 NP_001387662.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400734.1 NP_001387663.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400735.1 NP_001387664.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400736.1 NP_001387665.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400737.1 NP_001387666.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400738.1 NP_001387667.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400739.1 NP_001387668.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400740.1 NP_001387669.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400741.1 NP_001387670.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400742.1 NP_001387671.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400743.1 NP_001387672.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400744.1 NP_001387673.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400745.1 NP_001387674.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400746.1 NP_001387675.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400747.1 NP_001387676.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400748.1 NP_001387677.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400753.1 NP_001387682.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400754.1 NP_001387683.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400755.1 NP_001387684.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400756.1 NP_001387685.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400757.1 NP_001387686.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400758.1 NP_001387687.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400759.1 NP_001387688.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400762.1 NP_001387691.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400763.1 NP_001387692.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_001400764.1 NP_001387693.1 small nuclear ribonucleoprotein-associated protein N isoform d
NM_001400765.1 NP_001387694.1 small nuclear ribonucleoprotein-associated protein N isoform d
NM_001400767.1 NP_001387696.1 small nuclear ribonucleoprotein-associated protein N isoform c
NM_001400768.1 NP_001387697.1 small nuclear ribonucleoprotein-associated protein N isoform e
NM_003097.6 NP_003088.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_022805.5 NP_073716.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_022806.5 NP_073717.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_022807.5 NP_073718.1 small nuclear ribonucleoprotein-associated protein N isoform b
NM_022808.5 NP_073719.1 small nuclear ribonucleoprotein-associated protein N isoform b

SNRPN Protein Structure

LSM

LSM: LSM domain (9 - 81)

  • 0
  • 100
  • 200
  • 240 a.a.
Protein Preferred Names Protein Names

small nuclear ribonucleoprotein-associated protein N

SM protein N

Related Diseases

Diseases Alias
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat
Angelman Syndrome Due To Imprinting Defect In 15q11-Q13
Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 1
Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 2
Mixed Connective Tissue Disease

Sharp Syndrome

Mctd

Connective Tissue Disease Overlap Syndrome

Mixed Collagen Vascular Disease

Mctd - [Mixed Connective Tissue Disease]
Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]
Schaaf-Yang Syndrome

Prader-Willi-Like Syndrome

Chitayat-Hall Syndrome

SHFYNG

Pwls

Magel2-Related Prader-Willi-Like Syndrome

Magel2-Related Pwls

Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A

Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies

Pws Due To A Point Mutation

Pws Due To Point Mutation

Prader-Willi Syndrome Due To A Point Mutation

Prader-Willi Syndrome Due To Point Mutation

Pws-Like
Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]
Precocious Puberty, Central, 2

CPPB2

Central Precocious Puberty 2

Precocious Puberty, Central 2

Precocious Puberty, Central, Type 2
Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease
Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]
Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat
Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome
Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders
Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Leptin Deficiency Or Dysfunction

Morbid Obesity

Obesity Due To Congenital Leptin Deficiency

LEPD

Congenital Leptin Deficiency

Obesity, Morbid

Obesity, Morbid, Due To Leptin Deficiency

Severe Obesity

Obesity, Morbid, Nonsyndromic 1

Leptin Deficiency

Obesity, Severe, Due To Leptin Deficiency

Leptin

Morbid Obesity Due To Leptin Deficiency

Obesity Morbid

Leptin Dysfunction
Pseudohypoparathyroidism, Type Ia

Albright'S Hereditary Osteodystrophy

Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism Type 1a

PHP1A

Albright Hereditary Osteodystrophy With Multiple Hormone Resistance

Pseudohypoparathyroidism Ia

AHO

Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy

Pseudo-Pseudohypoparathyroidism

Pseudohypoparathyroidism Type I A

Php Ia

Pseudopseudohypoparathyroidism

Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

Pphp

Pseudopseudo-Hypoparathyroidism

Aho-Php Syndrome Ia

Albright Hereditary Osteodystrophy-Php Syndrome Ia

Pseudohypoparathyroidism 1a

Pseudohypoparathyroidism
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism
Pseudohypoparathyroidism, Type Ib

Pseudohypoparathyroidism Type 1b

PHP1B

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Type Ib

Php Ib

Pseudohypoparathyroidism 1b
Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb
Esotropia

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13511 SNRPN Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus SNRPN MGD MGI:98347
Rattus norvegicus SNRPN RGD RGD:621306
Bos taurus SNRPN VGNC VGNC:35082
Macaca mulatta SNRPN VGNC VGNC:78437
Canis familiaris SNRPN VGNC VGNC:46612