Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10285
Gene name	Survival motor neuron domain containing 1
Gene symbol	SMNDC1
Synonyms (NCBI Gene)	SMNRSPF30TDRD16C
Chromosome	10
Chromosome location	10q25.2
Summary	This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029377	hsa-miR-26b-5p	Microarray	19088304
MIRT030868	hsa-miR-21-5p	Sequencing	20371350
MIRT699135	hsa-miR-580-5p	HITS-CLIP	23313552
MIRT699134	hsa-miR-3614-3p	HITS-CLIP	23313552
MIRT699133	hsa-miR-6074	HITS-CLIP	23313552
MIRT699132	hsa-miR-1272	HITS-CLIP	23313552
MIRT699131	hsa-miR-892c-5p	HITS-CLIP	23313552
MIRT699130	hsa-miR-506-5p	HITS-CLIP	23313552
MIRT699129	hsa-miR-16-1-3p	HITS-CLIP	23313552
MIRT699128	hsa-miR-581	HITS-CLIP	23313552
MIRT699127	hsa-miR-4312	HITS-CLIP	23313552
MIRT699126	hsa-miR-630	HITS-CLIP	23313552
MIRT699125	hsa-miR-1206	HITS-CLIP	23313552
MIRT699124	hsa-miR-6853-3p	HITS-CLIP	23313552
MIRT699123	hsa-miR-4775	HITS-CLIP	23313552
MIRT699122	hsa-miR-222-5p	HITS-CLIP	23313552
MIRT396444	hsa-miR-578	HITS-CLIP	23313552
MIRT641901	hsa-miR-8485	HITS-CLIP	23824327
MIRT641900	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT641899	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT641898	hsa-miR-4289	HITS-CLIP	23824327
MIRT641897	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT653326	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT641896	hsa-miR-4261	HITS-CLIP	23824327
MIRT641901	hsa-miR-8485	HITS-CLIP	23824327
MIRT641900	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT641899	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT641898	hsa-miR-4289	HITS-CLIP	23824327
MIRT641897	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT653326	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT641896	hsa-miR-4261	HITS-CLIP	23824327
MIRT641901	hsa-miR-8485	HITS-CLIP	23824327
MIRT641900	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT641899	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT641898	hsa-miR-4289	HITS-CLIP	23824327
MIRT641897	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT641896	hsa-miR-4261	HITS-CLIP	23824327
MIRT641895	hsa-miR-4504	HITS-CLIP	23824327
MIRT641894	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT641893	hsa-miR-6808-3p	HITS-CLIP	23824327
MIRT641892	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT439581	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT439581	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT699135	hsa-miR-580-5p	HITS-CLIP	23313552
MIRT699134	hsa-miR-3614-3p	HITS-CLIP	23313552
MIRT699133	hsa-miR-6074	HITS-CLIP	23313552
MIRT699132	hsa-miR-1272	HITS-CLIP	23313552
MIRT699131	hsa-miR-892c-5p	HITS-CLIP	23313552
MIRT699130	hsa-miR-506-5p	HITS-CLIP	23313552
MIRT699129	hsa-miR-16-1-3p	HITS-CLIP	23313552
MIRT699128	hsa-miR-581	HITS-CLIP	23313552
MIRT699127	hsa-miR-4312	HITS-CLIP	23313552
MIRT699126	hsa-miR-630	HITS-CLIP	23313552
MIRT699125	hsa-miR-1206	HITS-CLIP	23313552
MIRT699124	hsa-miR-6853-3p	HITS-CLIP	23313552
MIRT699123	hsa-miR-4775	HITS-CLIP	23313552
MIRT699122	hsa-miR-222-5p	HITS-CLIP	23313552
MIRT396444	hsa-miR-578	HITS-CLIP	23313552
MIRT641901	hsa-miR-8485	HITS-CLIP	23824327
MIRT641900	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT641899	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT641898	hsa-miR-4289	HITS-CLIP	23824327
MIRT641897	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT653326	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT641896	hsa-miR-4261	HITS-CLIP	23824327
MIRT641901	hsa-miR-8485	HITS-CLIP	23824327
MIRT641900	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT641899	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT641898	hsa-miR-4289	HITS-CLIP	23824327
MIRT641897	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT653326	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT641896	hsa-miR-4261	HITS-CLIP	23824327
MIRT641901	hsa-miR-8485	HITS-CLIP	23824327
MIRT641900	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT641899	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT641898	hsa-miR-4289	HITS-CLIP	23824327
MIRT641897	hsa-miR-205-5p	HITS-CLIP	23824327
MIRT641896	hsa-miR-4261	HITS-CLIP	23824327
MIRT641895	hsa-miR-4504	HITS-CLIP	23824327
MIRT641894	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT641893	hsa-miR-6808-3p	HITS-CLIP	23824327
MIRT641892	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT1373681	hsa-miR-105	CLIP-seq
MIRT1373682	hsa-miR-1263	CLIP-seq
MIRT1373683	hsa-miR-1304	CLIP-seq
MIRT1373684	hsa-miR-143	CLIP-seq
MIRT1373685	hsa-miR-150	CLIP-seq
MIRT1373686	hsa-miR-2117	CLIP-seq
MIRT1373687	hsa-miR-2467-3p	CLIP-seq
MIRT1373688	hsa-miR-3065-5p	CLIP-seq
MIRT1373689	hsa-miR-3126-5p	CLIP-seq
MIRT1373690	hsa-miR-3158-5p	CLIP-seq
MIRT1373691	hsa-miR-3166	CLIP-seq
MIRT1373692	hsa-miR-3173-5p	CLIP-seq
MIRT1373693	hsa-miR-3646	CLIP-seq
MIRT1373694	hsa-miR-3678-3p	CLIP-seq
MIRT1373695	hsa-miR-375	CLIP-seq
MIRT1373696	hsa-miR-377	CLIP-seq
MIRT1373697	hsa-miR-421	CLIP-seq
MIRT1373698	hsa-miR-4272	CLIP-seq
MIRT1373699	hsa-miR-4273	CLIP-seq
MIRT1373700	hsa-miR-4274	CLIP-seq
MIRT1373701	hsa-miR-4419a	CLIP-seq
MIRT1373702	hsa-miR-4495	CLIP-seq
MIRT1373703	hsa-miR-4510	CLIP-seq
MIRT1373704	hsa-miR-4519	CLIP-seq
MIRT1373705	hsa-miR-4659a-3p	CLIP-seq
MIRT1373706	hsa-miR-4659b-3p	CLIP-seq
MIRT1373707	hsa-miR-4677-5p	CLIP-seq
MIRT1373708	hsa-miR-4694-3p	CLIP-seq
MIRT1373709	hsa-miR-4713-5p	CLIP-seq
MIRT1373710	hsa-miR-4735-5p	CLIP-seq
MIRT1373711	hsa-miR-4756-3p	CLIP-seq
MIRT1373712	hsa-miR-4770	CLIP-seq
MIRT1373713	hsa-miR-4771	CLIP-seq
MIRT1373714	hsa-miR-4803	CLIP-seq
MIRT1373715	hsa-miR-495	CLIP-seq
MIRT1373716	hsa-miR-499-3p	CLIP-seq
MIRT1373717	hsa-miR-499a-3p	CLIP-seq
MIRT1373718	hsa-miR-520d-5p	CLIP-seq
MIRT1373719	hsa-miR-522	CLIP-seq
MIRT1373720	hsa-miR-524-5p	CLIP-seq
MIRT1373721	hsa-miR-532-3p	CLIP-seq
MIRT1373722	hsa-miR-539	CLIP-seq
MIRT1373723	hsa-miR-548a-3p	CLIP-seq
MIRT1373724	hsa-miR-548c-3p	CLIP-seq
MIRT1373725	hsa-miR-548e	CLIP-seq
MIRT1373726	hsa-miR-548f	CLIP-seq
MIRT2111256	hsa-miR-1323	CLIP-seq
MIRT1373698	hsa-miR-4272	CLIP-seq
MIRT1373718	hsa-miR-520d-5p	CLIP-seq
MIRT1373720	hsa-miR-524-5p	CLIP-seq
MIRT1373723	hsa-miR-548a-3p	CLIP-seq
MIRT2111257	hsa-miR-548ac	CLIP-seq
MIRT2111258	hsa-miR-548ae	CLIP-seq
MIRT2111259	hsa-miR-548aj	CLIP-seq
MIRT2111260	hsa-miR-548am	CLIP-seq
MIRT2111261	hsa-miR-548d-3p	CLIP-seq
MIRT1373725	hsa-miR-548e	CLIP-seq
MIRT1373726	hsa-miR-548f	CLIP-seq
MIRT2111262	hsa-miR-548k	CLIP-seq
MIRT2111263	hsa-miR-548n	CLIP-seq
MIRT2111264	hsa-miR-548o	CLIP-seq
MIRT2111265	hsa-miR-548x	CLIP-seq
MIRT2111266	hsa-miR-548z	CLIP-seq
MIRT2334397	hsa-miR-550b	CLIP-seq
MIRT1373688	hsa-miR-3065-5p	CLIP-seq
MIRT1373681	hsa-miR-105	CLIP-seq
MIRT2628459	hsa-miR-1283	CLIP-seq
MIRT2628460	hsa-miR-155	CLIP-seq
MIRT2628461	hsa-miR-300	CLIP-seq
MIRT1373688	hsa-miR-3065-5p	CLIP-seq
MIRT1373691	hsa-miR-3166	CLIP-seq
MIRT1373693	hsa-miR-3646	CLIP-seq
MIRT2628462	hsa-miR-381	CLIP-seq
MIRT2628463	hsa-miR-412	CLIP-seq
MIRT1373697	hsa-miR-421	CLIP-seq
MIRT1373698	hsa-miR-4272	CLIP-seq
MIRT1373700	hsa-miR-4274	CLIP-seq
MIRT1373704	hsa-miR-4519	CLIP-seq
MIRT1373705	hsa-miR-4659a-3p	CLIP-seq
MIRT1373706	hsa-miR-4659b-3p	CLIP-seq
MIRT1373710	hsa-miR-4735-5p	CLIP-seq
MIRT1373713	hsa-miR-4771	CLIP-seq
MIRT1373714	hsa-miR-4803	CLIP-seq
MIRT2628464	hsa-miR-494	CLIP-seq
MIRT1373715	hsa-miR-495	CLIP-seq
MIRT1373718	hsa-miR-520d-5p	CLIP-seq
MIRT1373720	hsa-miR-524-5p	CLIP-seq
MIRT1373722	hsa-miR-539	CLIP-seq
MIRT1373681	hsa-miR-105	CLIP-seq
MIRT1373688	hsa-miR-3065-5p	CLIP-seq
MIRT1373691	hsa-miR-3166	CLIP-seq
MIRT1373693	hsa-miR-3646	CLIP-seq
MIRT1373710	hsa-miR-4735-5p	CLIP-seq
MIRT1373713	hsa-miR-4771	CLIP-seq
MIRT1373714	hsa-miR-4803	CLIP-seq
MIRT1373715	hsa-miR-495	CLIP-seq
MIRT1373718	hsa-miR-520d-5p	CLIP-seq
MIRT1373720	hsa-miR-524-5p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000375	Process	RNA splicing, via transesterification reactions	IEA
GO:0000375	Process	RNA splicing, via transesterification reactions	TAS	9731529
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15494309, 17332742, 22101937, 22365833, 33961781, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9817934
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	9817934
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IEA
GO:0016607	Component	Nuclear speck	IEA

MIM	HGNC	e!Ensembl
603519	16900	ENSG00000119953

O75940

Protein name

Survival of motor neuron-related-splicing factor 30 (30 kDa splicing factor SMNrp) (SMN-related protein) (Survival motor neuron domain-containing protein 1)

Protein function

Involved in spliceosome assembly.

PDB

4A4F , 4A4H , 8POI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06003	SMN	59 → 196	Survival motor neuron protein (SMN)	Family

Tissue specificity

TISSUE SPECIFICITY: Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas. {ECO:0000269|PubMed:9817934}.

Sequence

MSEDLAKQLASYKAQLQQVEAALSGNGENEDLLKLKKDLQEVIELTKDLLSTQPSETLAS
SDSFASTQPTHSWKVGDKCMAVWSEDGQCYEAEIEEIDEENGTAAITFAGYGNAEVTPLL
NLKPVEEGRKAKEDSGNKPMSKKEMIAQQREYKKKKALKKAQRIKELEQEREDQKVKWQQ
FNNRAYSKNKKGQVKRSIFASPESVTGKVGVGTCGIADKPMTQYQDTSKYNVRHLMPQ

Sequence length

238

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25690035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24831101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	27003466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	22020225		★★★★★ ★☆☆☆☆ Found in Text Mining only

SMNDC1 (survival motor neuron domain containing 1)