SMN2 (survival of motor neuron 2, centromeric)

Gene

• Entrez ID: 6607
• Gene name: Survival of motor neuron 2, centromeric
• Gene symbol: SMN2
• Synonyms (NCBI Gene): BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
• Chromosome: 5
• Chromosome location: 5q13.2
• Summary: This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028415	hsa-miR-30a-5p	Proteomics	18668040
MIRT029070	hsa-miR-26b-5p	Microarray	19088304
MIRT045172	hsa-miR-186-5p	CLASH	23622248
MIRT044885	hsa-miR-193a-3p	CLASH	23622248
MIRT644923	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT644922	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT644921	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT644920	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT644923	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT644922	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT644921	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT644920	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT1373636	hsa-miR-181a	CLIP-seq
MIRT1373637	hsa-miR-181b	CLIP-seq
MIRT1373638	hsa-miR-181c	CLIP-seq
MIRT1373639	hsa-miR-181d	CLIP-seq
MIRT1373640	hsa-miR-194	CLIP-seq
MIRT1373641	hsa-miR-23a	CLIP-seq
MIRT1373642	hsa-miR-23b	CLIP-seq
MIRT1373643	hsa-miR-23c	CLIP-seq
MIRT1373644	hsa-miR-3064-3p	CLIP-seq
MIRT1373645	hsa-miR-3120-5p	CLIP-seq
MIRT1373646	hsa-miR-3143	CLIP-seq
MIRT1373647	hsa-miR-3180-5p	CLIP-seq
MIRT1373648	hsa-miR-323b-3p	CLIP-seq
MIRT1373649	hsa-miR-3607-3p	CLIP-seq
MIRT1373650	hsa-miR-3671	CLIP-seq
MIRT1373651	hsa-miR-3686	CLIP-seq
MIRT1373652	hsa-miR-4262	CLIP-seq
MIRT1373653	hsa-miR-4698	CLIP-seq
MIRT1373654	hsa-miR-4715-3p	CLIP-seq
MIRT1373655	hsa-miR-4776-3p	CLIP-seq
MIRT1373656	hsa-miR-513c	CLIP-seq
MIRT1373657	hsa-miR-514b-5p	CLIP-seq
MIRT1373658	hsa-miR-520a-5p	CLIP-seq
MIRT1373659	hsa-miR-525-5p	CLIP-seq
MIRT1373660	hsa-miR-543	CLIP-seq
MIRT1373661	hsa-miR-607	CLIP-seq
MIRT1373662	hsa-miR-944	CLIP-seq
MIRT1373663	hsa-miR-1229	CLIP-seq
MIRT1373664	hsa-miR-141	CLIP-seq
MIRT1373665	hsa-miR-200a	CLIP-seq
MIRT1373666	hsa-miR-2053	CLIP-seq
MIRT1373667	hsa-miR-208a	CLIP-seq
MIRT1373668	hsa-miR-208b	CLIP-seq
MIRT1373669	hsa-miR-3124-3p	CLIP-seq
MIRT1373670	hsa-miR-3163	CLIP-seq
MIRT1373671	hsa-miR-340	CLIP-seq
MIRT1373672	hsa-miR-342-3p	CLIP-seq
MIRT1373673	hsa-miR-3617	CLIP-seq
MIRT1373674	hsa-miR-3658	CLIP-seq
MIRT1373675	hsa-miR-4282	CLIP-seq
MIRT1373676	hsa-miR-494	CLIP-seq
MIRT1373677	hsa-miR-499-5p	CLIP-seq
MIRT1373678	hsa-miR-556-3p	CLIP-seq
MIRT1373679	hsa-miR-641	CLIP-seq
MIRT1373680	hsa-miR-660	CLIP-seq
MIRT1373640	hsa-miR-194	CLIP-seq
MIRT1373644	hsa-miR-3064-3p	CLIP-seq
MIRT1373646	hsa-miR-3143	CLIP-seq
MIRT1373649	hsa-miR-3607-3p	CLIP-seq
MIRT1373651	hsa-miR-3686	CLIP-seq
MIRT1373654	hsa-miR-4715-3p	CLIP-seq
MIRT2111254	hsa-miR-4760-5p	CLIP-seq
MIRT1373655	hsa-miR-4776-3p	CLIP-seq
MIRT2111255	hsa-miR-4778-5p	CLIP-seq
MIRT1373660	hsa-miR-543	CLIP-seq
MIRT1373640	hsa-miR-194	CLIP-seq
MIRT1373644	hsa-miR-3064-3p	CLIP-seq
MIRT1373646	hsa-miR-3143	CLIP-seq
MIRT1373649	hsa-miR-3607-3p	CLIP-seq
MIRT1373651	hsa-miR-3686	CLIP-seq
MIRT1373654	hsa-miR-4715-3p	CLIP-seq
MIRT2111254	hsa-miR-4760-5p	CLIP-seq
MIRT1373655	hsa-miR-4776-3p	CLIP-seq
MIRT2111255	hsa-miR-4778-5p	CLIP-seq
MIRT1373660	hsa-miR-543	CLIP-seq
MIRT2394880	hsa-miR-140-5p	CLIP-seq
MIRT1373640	hsa-miR-194	CLIP-seq
MIRT1373644	hsa-miR-3064-3p	CLIP-seq
MIRT1373646	hsa-miR-3143	CLIP-seq
MIRT2394881	hsa-miR-3545-5p	CLIP-seq
MIRT2394882	hsa-miR-3591-5p	CLIP-seq
MIRT1373649	hsa-miR-3607-3p	CLIP-seq
MIRT1373651	hsa-miR-3686	CLIP-seq
MIRT2394883	hsa-miR-4460	CLIP-seq
MIRT2394884	hsa-miR-4473	CLIP-seq
MIRT2394885	hsa-miR-4671-3p	CLIP-seq
MIRT1373654	hsa-miR-4715-3p	CLIP-seq
MIRT2394886	hsa-miR-4729	CLIP-seq
MIRT1373655	hsa-miR-4776-3p	CLIP-seq
MIRT2394887	hsa-miR-512-3p	CLIP-seq
MIRT2394888	hsa-miR-520f	CLIP-seq
MIRT1373660	hsa-miR-543	CLIP-seq
MIRT2394889	hsa-miR-616	CLIP-seq
MIRT2628440	hsa-miR-1224-3p	CLIP-seq
MIRT1373663	hsa-miR-1229	CLIP-seq
MIRT2628441	hsa-miR-1260	CLIP-seq
MIRT2628442	hsa-miR-1260b	CLIP-seq
MIRT2628443	hsa-miR-1280	CLIP-seq
MIRT2628444	hsa-miR-1298	CLIP-seq
MIRT2628445	hsa-miR-1305	CLIP-seq
MIRT1373664	hsa-miR-141	CLIP-seq
MIRT1373636	hsa-miR-181a	CLIP-seq
MIRT1373637	hsa-miR-181b	CLIP-seq
MIRT1373638	hsa-miR-181c	CLIP-seq
MIRT1373639	hsa-miR-181d	CLIP-seq
MIRT2628446	hsa-miR-197	CLIP-seq
MIRT1373665	hsa-miR-200a	CLIP-seq
MIRT1373667	hsa-miR-208a	CLIP-seq
MIRT1373668	hsa-miR-208b	CLIP-seq
MIRT1373641	hsa-miR-23a	CLIP-seq
MIRT1373642	hsa-miR-23b	CLIP-seq
MIRT1373643	hsa-miR-23c	CLIP-seq
MIRT2628447	hsa-miR-3121-3p	CLIP-seq
MIRT1373670	hsa-miR-3163	CLIP-seq
MIRT2628448	hsa-miR-3176	CLIP-seq
MIRT1373648	hsa-miR-323b-3p	CLIP-seq
MIRT2628449	hsa-miR-33a	CLIP-seq
MIRT2628450	hsa-miR-33b	CLIP-seq
MIRT1373671	hsa-miR-340	CLIP-seq
MIRT1373672	hsa-miR-342-3p	CLIP-seq
MIRT1373673	hsa-miR-3617	CLIP-seq
MIRT1373650	hsa-miR-3671	CLIP-seq
MIRT2628451	hsa-miR-3922-3p	CLIP-seq
MIRT1373652	hsa-miR-4262	CLIP-seq
MIRT1373675	hsa-miR-4282	CLIP-seq
MIRT1373653	hsa-miR-4698	CLIP-seq
MIRT2628452	hsa-miR-4712-5p	CLIP-seq
MIRT2628453	hsa-miR-4720-3p	CLIP-seq
MIRT2628454	hsa-miR-4757-5p	CLIP-seq
MIRT2628455	hsa-miR-4804-3p	CLIP-seq
MIRT1373677	hsa-miR-499-5p	CLIP-seq
MIRT1373656	hsa-miR-513c	CLIP-seq
MIRT1373657	hsa-miR-514b-5p	CLIP-seq
MIRT2628456	hsa-miR-532-3p	CLIP-seq
MIRT1373678	hsa-miR-556-3p	CLIP-seq
MIRT1373661	hsa-miR-607	CLIP-seq
MIRT1373679	hsa-miR-641	CLIP-seq
MIRT2628457	hsa-miR-659	CLIP-seq
MIRT1373680	hsa-miR-660	CLIP-seq
MIRT2628458	hsa-miR-770-5p	CLIP-seq
MIRT1373662	hsa-miR-944	CLIP-seq
MIRT2628440	hsa-miR-1224-3p	CLIP-seq
MIRT1373663	hsa-miR-1229	CLIP-seq
MIRT2628441	hsa-miR-1260	CLIP-seq
MIRT2628442	hsa-miR-1260b	CLIP-seq
MIRT2628443	hsa-miR-1280	CLIP-seq
MIRT2628444	hsa-miR-1298	CLIP-seq
MIRT2628445	hsa-miR-1305	CLIP-seq
MIRT1373664	hsa-miR-141	CLIP-seq
MIRT1373636	hsa-miR-181a	CLIP-seq
MIRT1373637	hsa-miR-181b	CLIP-seq
MIRT1373638	hsa-miR-181c	CLIP-seq
MIRT1373639	hsa-miR-181d	CLIP-seq
MIRT2628446	hsa-miR-197	CLIP-seq
MIRT1373665	hsa-miR-200a	CLIP-seq
MIRT1373667	hsa-miR-208a	CLIP-seq
MIRT1373668	hsa-miR-208b	CLIP-seq
MIRT1373641	hsa-miR-23a	CLIP-seq
MIRT1373642	hsa-miR-23b	CLIP-seq
MIRT1373643	hsa-miR-23c	CLIP-seq
MIRT2628447	hsa-miR-3121-3p	CLIP-seq
MIRT1373670	hsa-miR-3163	CLIP-seq
MIRT2628448	hsa-miR-3176	CLIP-seq
MIRT1373648	hsa-miR-323b-3p	CLIP-seq
MIRT2628449	hsa-miR-33a	CLIP-seq
MIRT2628450	hsa-miR-33b	CLIP-seq
MIRT1373671	hsa-miR-340	CLIP-seq
MIRT1373672	hsa-miR-342-3p	CLIP-seq
MIRT1373673	hsa-miR-3617	CLIP-seq
MIRT1373650	hsa-miR-3671	CLIP-seq
MIRT2628451	hsa-miR-3922-3p	CLIP-seq
MIRT1373652	hsa-miR-4262	CLIP-seq
MIRT1373675	hsa-miR-4282	CLIP-seq
MIRT1373653	hsa-miR-4698	CLIP-seq
MIRT2628452	hsa-miR-4712-5p	CLIP-seq
MIRT2628453	hsa-miR-4720-3p	CLIP-seq
MIRT2628454	hsa-miR-4757-5p	CLIP-seq
MIRT2628455	hsa-miR-4804-3p	CLIP-seq
MIRT1373677	hsa-miR-499-5p	CLIP-seq
MIRT1373656	hsa-miR-513c	CLIP-seq
MIRT1373657	hsa-miR-514b-5p	CLIP-seq
MIRT2628456	hsa-miR-532-3p	CLIP-seq
MIRT1373678	hsa-miR-556-3p	CLIP-seq
MIRT1373661	hsa-miR-607	CLIP-seq
MIRT1373679	hsa-miR-641	CLIP-seq
MIRT2628457	hsa-miR-659	CLIP-seq
MIRT1373680	hsa-miR-660	CLIP-seq
MIRT2628458	hsa-miR-770-5p	CLIP-seq
MIRT1373662	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	IMP	9845364
GO:0000245	Process	Spliceosomal complex assembly	NAS	9323129
GO:0000387	Process	Spliceosomal snRNP assembly	IBA	21873635
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000387	Process	Spliceosomal snRNP assembly	TAS
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11135666, 11283611, 11714716, 12065586, 12975319, 14715275, 16087681, 17023415, 18093976, 18984161, 19515850, 19928837, 20696395, 21070772, 21072240, 21496457, 21516116, 21816274, 21900206, 22365833, 23752268, 24981860, 25416956, 25737013, 26700805, 26828962, 26871637, 30177828, 322
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	11283611
GO:0005654	Component	Nucleoplasm	IDA	17068332
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	9845364, 11283611, 17068332
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	TAS
GO:0006353	Process	DNA-templated transcription, termination	IMP	26700805
GO:0007399	Process	Nervous system development	IEA
GO:0015030	Component	Cajal body	IBA	21873635
GO:0015030	Component	Cajal body	IDA	11283611, 17068332
GO:0016604	Component	Nuclear body	IDA
GO:0030018	Component	Z disc	IEA
GO:0030424	Component	Axon	IEA
GO:0032797	Component	SMN complex	IBA	21873635
GO:0032797	Component	SMN complex	IDA	11283611, 18093976, 18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	18093976
GO:0042802	Function	Identical protein binding	IPI	8670859, 14715275, 16189514, 19928837, 21516116, 22365833, 23022347, 25416956, 29997244, 32296183, 32814053
GO:0043005	Component	Neuron projection	IDA	18093976
GO:0043204	Component	Perikaryon	IDA	18093976
GO:0051170	Process	Import into nucleus	TAS
GO:0097504	Component	Gemini of coiled bodies	IBA	21873635
GO:0097504	Component	Gemini of coiled bodies	IDA	8670859, 9845364, 11283611, 17068332, 20513430

Other IDs

• MIM: 601627
• HGNC: 11118
• e!Ensembl: ENSG00000205571

Pathways

Reactome:

snRNP Assembly

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Distal hereditary motor neuronopathy	Hereditary Motor Neuronopathy	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924	21350916
Distal spinal muscular atrophy	Distal Spinal Muscular Atrophy	rs29001584, rs28941475, rs121434378, rs267607146, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs137852670, rs137852646, rs372000714, rs724159994, rs730882139, rs730882140, rs796065352, rs886037759, rs746581714, rs780594709, rs756614404, rs864309503, rs200089714, rs145226920, rs35193202, rs879253865, rs201060167, rs879253887, rs368775789, rs886043773, rs1057518588, rs1060502838, rs768823392, rs1131691657, rs1554338260, rs1555243325, rs991227431, rs557416644, rs1160978570, rs1000091588, rs770111639, rs1566443170, rs759641927, rs372181708, rs1564096221, rs1332319177, rs1479493690, rs972425138, rs779716706, rs776730737, rs1303837541, rs1337346956, rs750994603, rs199839840, rs1366461184, rs1454639285, rs1594427410, rs145670786	21350916
Spinal muscular atrophy	Juvenile Spinal Muscular Atrophy, Spinal Muscular Atrophy, Muscular Atrophy, Spinal, Type II, Spinal Muscular Atrophies of Childhood, SPINAL MUSCULAR ATROPHY, TYPE IV, Muscular atrophy, spinal, infantile chronic form	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962	9837824, 19716110, 9158159, 11839954, 18572081, 21350916, 26606804, 19050931, 20442745, 18155522, 10679938, 24498607, 21542063
Proximal spinal muscular atrophy	Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4, Proximal spinal muscular atrophy type 2	rs121918358
Scapuloperoneal spinal muscular atrophy	Scapuloperoneal Form of Spinal Muscular Atrophy	rs267607143, rs267607145, rs267607146	21350916

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	22274580, 24809826, 39506867
Amyotrophic lateral sclerosis 1	Associate	22187232
Cognition Disorders	Associate	37927272
Death	Associate	29149772
Disease	Associate	33798739
Distal Myopathies	Associate	30348840
Hypersensitivity Immediate	Associate	18533950, 32051521
Motor Neuron Disease	Associate	39506867
Muscle Weakness	Associate	33789695
Muscular Atrophy	Associate	28728573
Muscular Atrophy Spinal	Associate	10205265, 10205267, 10339583, 11147573, 11704667, 11791208, 11839954, 12642665, 15272122, 16226920, 16385450, 16580882, 17170000, 17307868, 17505471, 17551501, 17585203, 17592254, 18533950, 18720039, 18839960, 18971205, 19103745, 19271042, 19430205, 19480685, 19603064, 19701774, 19716110, 20186123, 20194437, 20197730, 20413618, 20442745, 21189287, 21209906, 21220421, 21227393, 21602265, 21610752, 21654213, 21819082, 21925145, 21948593, 22233647, 22362925, 22382180, 22558076, 22558154, 22994313, 23073312, 23185376, 23253609, 23299920, 23861442, 24317636, 24413165, 24515897, 24616638, 24692659, 25506695, 25514431, 25727246, 25888055, 26123042, 26419278, 26510457, 26739529, 27425821, 27893852, 27911332, 28125085, 28159932, 28570645, 28623256, 28666123, 28728573, 29133793, 29149772, 29292768, 29434173, 29614695, 29712837, 29806836, 29904179, 30171557, 30188899, 30302786, 30304024, 30539904, 30788592, 31339938, 31594245, 31693467, 31704158, 31882526, 31888525, 31956256, 32011487, 32029694, 32066871, 32092542, 32144995, 32417790, 32418989, 32511765, 32532987, 32552676, 32763124, 33148303, 33197628, 33199817, 33265090, 33300159, 33438800, 33462199, 33724218, 33739559, 33789695, 33798739, 34445083, 34542403, 34638572, 35205250, 35289093, 35409296, 35431259, 35456491, 35659528, 35667685, 35835557, 35854272, 35887289, 35955418, 36346824, 36421785, 36669496, 36911944, 37026480, 37095427, 37695206, 37750622, 37964750, 38136980, 38137033, 38214229, 39240344, 39260228, 39325116, 39343938, 39920747, 39973405, 40022154, 40076610, 40119448, 40163981, 40225149, 8824882, 9837824
Muscular Dystrophy Duchenne	Associate	21948593
Nerve Degeneration	Associate	25470343
Nervous System Diseases	Associate	25470343
Neurodegenerative Diseases	Associate	23185376
Oculocutaneous albinism type 2	Associate	19603064
Osteogenesis imperfecta type 3	Associate	32051521
Osteogenesis Imperfecta Type IV	Associate	37695206
Rufous oculocutaneous albinism	Associate	19603064
Scoliosis	Associate	40163981
Spinal Muscular Atrophies of Childhood	Associate	11791208, 21209906, 21762474, 25470343, 26419278, 26468953, 26573968, 26739529, 28159932, 29434173, 29758563, 30304024, 30548438, 31123861, 31589162, 32051521, 32144995, 32552676, 32878721, 33565602, 33761963, 33789695, 33999158, 35409296, 35431259, 35848034, 36292797, 37512056, 37695206, 37927272, 38090542, 38183850, 8782046, 9199562, 9837824
Spinal muscular atrophy 4	Associate	37964750