SNURF (SNRPN upstream open reading frame)

Gene

• Entrez ID: 8926
• Gene name: SNRPN upstream open reading frame
• Gene symbol: SNURF
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q11.2
• Summary: This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nu

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030233	hsa-miR-26b-5p	Microarray	19088304
MIRT1553894	hsa-miR-4271	CLIP-seq
MIRT1553895	hsa-miR-4725-3p	CLIP-seq
MIRT1553896	hsa-miR-4747-5p	CLIP-seq
MIRT1553894	hsa-miR-4271	CLIP-seq
MIRT1553895	hsa-miR-4725-3p	CLIP-seq
MIRT1553896	hsa-miR-4747-5p	CLIP-seq
MIRT2335273	hsa-miR-4757-3p	CLIP-seq
MIRT2335274	hsa-miR-548m	CLIP-seq
MIRT2335275	hsa-miR-577	CLIP-seq
MIRT2335276	hsa-miR-657	CLIP-seq
MIRT2460156	hsa-miR-1285	CLIP-seq
MIRT2460157	hsa-miR-3187-5p	CLIP-seq
MIRT2460158	hsa-miR-320e	CLIP-seq
MIRT2460159	hsa-miR-612	CLIP-seq
MIRT2629248	hsa-miR-1238	CLIP-seq
MIRT2629249	hsa-miR-1273e	CLIP-seq
MIRT2460156	hsa-miR-1285	CLIP-seq
MIRT2629250	hsa-miR-129-5p	CLIP-seq
MIRT2629251	hsa-miR-135a	CLIP-seq
MIRT2629252	hsa-miR-135b	CLIP-seq
MIRT2629253	hsa-miR-298	CLIP-seq
MIRT2629254	hsa-miR-3145-5p	CLIP-seq
MIRT2460157	hsa-miR-3187-5p	CLIP-seq
MIRT2460158	hsa-miR-320e	CLIP-seq
MIRT2629255	hsa-miR-323b-3p	CLIP-seq
MIRT2629256	hsa-miR-3673	CLIP-seq
MIRT2629257	hsa-miR-4279	CLIP-seq
MIRT2629258	hsa-miR-4534	CLIP-seq
MIRT2629259	hsa-miR-508-5p	CLIP-seq
MIRT2460159	hsa-miR-612	CLIP-seq
MIRT2335276	hsa-miR-657	CLIP-seq
MIRT2629248	hsa-miR-1238	CLIP-seq
MIRT2629249	hsa-miR-1273e	CLIP-seq
MIRT2460156	hsa-miR-1285	CLIP-seq
MIRT2629250	hsa-miR-129-5p	CLIP-seq
MIRT2629251	hsa-miR-135a	CLIP-seq
MIRT2629252	hsa-miR-135b	CLIP-seq
MIRT2629253	hsa-miR-298	CLIP-seq
MIRT2629254	hsa-miR-3145-5p	CLIP-seq
MIRT2460157	hsa-miR-3187-5p	CLIP-seq
MIRT2460158	hsa-miR-320e	CLIP-seq
MIRT2629255	hsa-miR-323b-3p	CLIP-seq
MIRT2629256	hsa-miR-3673	CLIP-seq
MIRT2629257	hsa-miR-4279	CLIP-seq
MIRT2629258	hsa-miR-4534	CLIP-seq
MIRT2629259	hsa-miR-508-5p	CLIP-seq
MIRT2460159	hsa-miR-612	CLIP-seq
MIRT2335276	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	10318933
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0051117	Function	ATPase binding	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9Y675
• Protein name: SNRPN upstream reading frame protein
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07192	SNURF	2 → 70	SNURF/RPN4 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, skeletal muscle and lymphoblasts (at protein level). Expressed in brain, pancreas, heart, liver, lung, kidney and skeletal muscle. {ECO:0000269|PubMed:10318933}.
• Sequence:

  MERARDRLHLRRTTEQHVPEVEVQVKRRRTASLSNQECQLYPRRSQQQQVPVVDFQAELR
  QAFLAETPRGG

• Sequence length: 71

Pathways

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGELMAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19922137, 20840067, 21708901, 22274580, 22323753, 23022481, 23255347, 24210254, 24803543, 24809826, 25625564, 27466204, 28178525, 28459188, 28515487, 29313812, 29884807, 8651652		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	22187232, 24630593		★☆☆☆☆ Found in Text Mining only
Amyotrophy, monomelic	Monomelic Amyotrophy	BEFREE	15642858		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	10617653	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	12749060, 14666508, 15014980, 15744456, 16574761, 17890436, 20472822, 8188222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	8677029, 8787675, 9748047		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22197680		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25560175	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	10617653	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	9192274		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19625298		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24237934, 29187847		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	14597228		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	8821886		★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	18791638		★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	10369885, 11734549, 12654964, 12875676, 29518354, 8677029, 8773609, 8922999, 9719377, 9748045, 9748047		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31532353		★☆☆☆☆ Found in Text Mining only
Juvenile Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10655542, 24334346, 25716911, 8887955, 9153525		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	7772706		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30377209		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31533641		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22521361		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	10655542, 11773003, 18093976, 28811488, 30842449, 31019235, 9147655		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	10732802, 16049920, 17895963, 19884170, 20157854, 21325354, 21708901, 21840928, 23022481, 23063131, 23221635, 23615451, 25725227, 25735748, 28199839, 29790918, 29985170, 31811660, 9073029, 9585359, 9748047		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	11993528, 12571787, 9585359		★☆☆☆☆ Found in Text Mining only
Myelopathic Muscular Atrophy	Myelopathic Muscular Atrophy	BEFREE	8786072		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12571787		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	31068947, 9748045		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19524139		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25692239		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10725331, 19351384, 20581815, 20705738, 21920940, 22763238, 23757500, 24332368, 24590288, 24769255, 26331341, 26464491, 27472505, 28069797, 28635376, 28852871, 29103974, 30012555, 31799625, 31851921		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22521361		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	12441251, 16118268, 17103222, 18492800, 18755223, 20515750, 20826664, 20954180, 21118896, 21334976, 21693563, 22798624, 23727837, 25144193, 26311784, 27460344, 27483257, 27557711, 27699224, 28017471, 28178525, 28379354, 28642865, 28808928, 29069603, 29091570, 29982483, 30027400, 30102724, 31361024, 9837824		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	9192274		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28554868		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	30340650		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	23298926		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	22083460		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	10626556, 10775525, 1303277, 14666508, 15565282, 15634360, 15744456, 16574761, 17262171, 17890436, 18500341, 20472822, 24311433, 28387446, 28554868, 7512861, 8571960, 8723064		★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	BEFREE	23477310		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	22679513	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	20085811, 22669476		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29650266		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	30340650		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	30340650	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10339583, 10369311, 10369862, 10369867, 10439956, 10496271, 10500148, 10508982, 10545039, 10556301, 10577272, 10601333, 10607836, 10655541, 10675659, 10732802, 10732817, 10773822, 10838245, 10931943, 11092763, 11121410, 11147573, 11181573, 11266116, 11274309, 11287750, 11303798, 11322942, 11354634, 11379882, 11438957, 11504946, 11562575, 11574669, 11641277, 11704667, 11907229, 11921836, 11978761, 12001651, 12210580, 12397076, 12436240, 12441251, 12614569, 12642665, 12760430, 12768044, 12815596, 12847076, 12875676, 12878704, 12879360, 12952942, 14520560, 14595654, 14597228, 14697339, 14715275, 15000810, 15162126, 15249625, 15523494, 15599397, 15790598, 15843395, 15862279, 15944201, 15964810, 15981080, 16000068, 16049920, 16093455, 16118268, 16204184, 16226920, 16301532, 16364894, 16449646, 16473550, 16481599, 16554261, 16607616, 16651888, 16936383, 16951947, 17178713, 17318264, 17585203, 17609673, 17627822, 17635841, 17640370, 17647030, 17717146, 17761651, 17761653, 17761654, 17761655, 17761657, 17895963, 17924536, 17932121, 17998247, 18093976, 18172693, 18178576, 18440926, 18455159, 18492800, 18508340, 18590823, 18601974, 18603534, 18629520, 18633133, 18649067, 18651653, 18662980, 18771690, 18791638, 18794368, 18941511, 19150990, 19198020, 19228773, 19286363, 19329542, 19351384, 19378506, 19430205, 19440247, 19535574, 19584083, 19584893, 19592581, 19603064, 19625298, 19758605, 19848583, 19860664, 19884170, 19897588, 20085811, 20157854, 20186123, 20194437, 20225030, 20392710, 20425235, 20442745, 20515750, 20564270, 20581815, 20605078, 20679391, 20705738, 20826664, 20840067, 20884664, 20954180, 21047176, 21082361, 21098506, 21118896, 21124729, 21174137, 21300694, 21325354, 21334976, 21339974, 21368223, 21482919, 21610752, 21672919, 21673580, 21693563, 21785213, 21785219, 21816274, 21826391, 21840928, 21920940, 21925145, 21971302, 21979052, 22134788, 22187232, 22197680, 22220673, 22302308, 22330725, 22362925, 22393244, 22422766, 22454072, 22558076, 22669476, 22701806, 22705478, 22750651, 22763238, 22798624, 23022481, 23029491, 23063130, 23063131, 23077215, 23112048, 23136128, 23157239, 23221635, 23255347, 23298926, 23315303, 23390132, 23467345, 23512182, 23615451, 23630626, 23656793, 23727836, 23727837, 23736298, 23740718, 23757500, 23863147, 23939659, 24067532, 24085424, 24124019, 24210254, 24317636, 24332368, 24391840, 24515897, 24590288, 24645792, 24722206, 24751385, 24769255, 24781211, 24803543, 24845847, 24923693, 24990202, 25068989, 25144193, 25483032, 25514431, 25516063, 25557785, 25561692, 25625564, 25692239, 25716911, 25727246, 25838041, 25911676, 25920617, 25986506, 26030728, 26063904, 26123042, 26134627, 26173388, 26189552, 26206889, 26214005, 26311784, 26331341, 26381381, 26419278, 26423457, 26464491, 26468953, 26758873, 26908606, 26931466, 27111068, 27241020, 27299419, 27299569, 27402754, 27460292, 27460344, 27466204, 27472505, 27483257, 27499521, 27510309, 27557711, 27621445, 27698380, 27699224, 27893852, 27894243, 27907033, 27939059, 28017471, 28069797, 28132687, 28139824, 28152480, 28161391, 28178525, 28193854, 28199839, 28250049, 28289706, 28379354, 28412171, 28426667, 28441483, 28450545, 28459188, 28481536, 28485722, 28515487, 28556834, 28570645, 28604635, 28623256, 28635376, 28637335, 28642865, 28648462, 28666123, 28728573, 28768735, 28799578, 28808928, 28811488, 28823932, 28826912, 28852871, 28899515, 28929094, 28945765, 28981879, 29061699, 29066780, 29069603, 29080838, 29091570, 29096367, 29103974, 29160009, 29187847, 29209912, 29220503, 29263925, 29281826, 29292768, 29294245, 29316633, 29378426, 29380287, 29391529, 29434670, 29473159, 29507115, 29518354, 29552580, 29580671, 29672276, 29703692, 29712837, 29790918, 29799103, 29884807, 29902268, 29941967, 29961886, 29982416, 29982483, 30008228, 30010942, 30012555, 30027400, 30065610, 30102724, 30171558, 30188931, 30233310, 30304024, 30327977, 30368521, 30408476, 30481286, 30553700, 30593463, 30649277, 30667343, 30733501, 30788592, 30805745, 30870495, 31019235, 31060774, 31102025, 31127156, 31156382, 31183542, 31230718, 31243392, 31270752, 31272106, 31301241, 31361024, 31363739, 31543414, 31563042, 31736847, 31797327, 31799625, 31803009, 31811660, 31828288, 31851921, 7581364, 7581461, 7813012, 8595417, 8677029, 8786072, 8787675, 8808598, 8875190, 8882869, 8887955, 8922999, 8929942, 8957014, 8968751, 9002676, 9067434, 9073029, 9147655, 9153454, 9153488, 9153525, 9185186, 9192274, 9207792, 9259265, 9295075, 9302277, 9341874, 9341891, 9345102, 9389483, 9443903, 9590291, 9667776, 9668169, 9719377, 9731538, 9783849, 9801871, 9818944, 9837824, 9845364		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	8821886		★☆☆☆☆ Found in Text Mining only