SMN2

SMN2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1G5V, 1MHN, 2LEH, 3S6N, 4A4E, 4A4G, 4GLI, 4NL6, 4NL7, 4QQ6
Identifiers
Aliases	SMN2, BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B, survival of motor neuron 2, centromeric, survival motor neuron 2, centromeric
External IDs	OMIM: 601627; MGI: 109257; HomoloGene: 292; GeneCards: SMN2; OMA:SMN2 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	70,078,522 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	100,274,198 bp
RNA expression pattern
	Top expressed in
	epithelium of colon; ; endometrium; ; smooth muscle tissue; ; right uterine tube; ; olfactory zone of nasal mucosa; ; rectum; ; bone marrow; ; tonsil; ; muscle of thigh; ; Descending thoracic aorta;
	Top expressed in
	zygote; ; yolk sac; ; epiblast; ; morula; ; morula; ; tail of embryo; ; embryo; ; embryo; ; blastocyst; ; ventricular zone;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; RNA binding; identical protein binding;
Cellular component	cytoplasm; SMN-Sm protein complex; cytosol; Cajal body; nucleoplasm; SMN complex; Z discdkac; neuron projection; cytoplasmic ribonucleoprotein granule; nucleus; gemini of coiled bodies; perikaryon; cell projection;
Biological process	DNA-templated transcription, termination; mRNA processing; nervous system development; spliceosomal snRNP assembly; spliceosomal complex assembly; RNA splicing; import into nucleus;
	Sources:Amigo / QuickGO
Orthologs
	6607
	20595
	ENSG00000277773; ENSG00000205571; ENSG00000273772
	ENSMUSG00000021645
	Q16637
	P97801
	NM_017411; NM_022875; NM_022876; NM_022877
	NM_001252629; NM_011420
NP_059107; NP_075013; NP_075014; NP_075015; NP_000335;
	NP_001284644; NP_075012
	NP_001239558; NP_035550
	Wikidata
View/Edit Human	View/Edit Mouse

Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein (full and truncated) in humans.^[5]^[6]

^ ^a ^b ^c ENSG00000205571, ENSG00000273772 GRCh38: Ensembl release 89: ENSG00000277773, ENSG00000205571, ENSG00000273772 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021645 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012. S2CID 14291056.
^ "Entrez Gene: SMN2 survival of motor neuron 2, centromeric".

[refGRCh38Ensembl-1] ENSG00000205571, ENSG00000273772 GRCh38: Ensembl release 89: ENSG00000277773, ENSG00000205571, ENSG00000273772 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021645 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7813012-5] Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012. S2CID 14291056.

[entrez-6] "Entrez Gene: SMN2 survival of motor neuron 2, centromeric".

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