CR2Cancer

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

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Domain

PF06003 Survival motor neuron protein (SMN)

Function

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	GO:0000245 spliceosomal complex assembly GO:0000375 RNA splicing, via transesterification reactions GO:0000377 RNA splicing, via transesterification reactions with bulged adenosine as nucleophile GO:0000387 spliceosomal snRNP assembly GO:0000398 mRNA splicing, via spliceosome GO:0006353 DNA-templated transcription, termination GO:0006397 mRNA processing GO:0006913 nucleocytoplasmic transport GO:0008380 RNA splicing GO:0022613 ribonucleoprotein complex biogenesis GO:0022618 ribonucleoprotein complex assembly GO:0051169 nuclear transport GO:0051170 nuclear import GO:0071826 ribonucleoprotein complex subunit organization
Molecular Function	-
Cellular Component	GO:0015030 Cajal body GO:0016604 nuclear body GO:0030016 myofibril GO:0030017 sarcomere GO:0030018 Z disc GO:0031674 I band GO:0032797 SMN complex GO:0034719 SMN-Sm protein complex GO:0035770 ribonucleoprotein granule GO:0036464 cytoplasmic ribonucleoprotein granule GO:0043025 neuronal cell body GO:0043204 perikaryon GO:0043292 contractile fiber GO:0044297 cell body GO:0044449 contractile fiber part GO:0097504 Gemini of coiled bodies

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa03013 RNA transport
Reactome	-

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record for SMN2.

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

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COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM3683876	c.591A>C	p.P197P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
24632473	Underexpression; Mutation	Spinal Muscular Atrophy	Humans contain a second SMN gene called SMN2 thus SMA patients produce some SMN but not with sufficient levels. The majority of SMN2 mRNA does not include exon 7.; Here we show that increased expression of PSF promotes inclusion of exon 7 in the SMN2 whereas reduced expression of PSF promotes exon 7 skipping.; These results lead us to conclude that PSF interacts with an enhancer in exon 7 to promote exon 7 splicing of SMN2 pre-mRNA.
22763238	Mutation	Spinal Muscular Atrophy	Reduced levels of SMN is due to the loss of the SMN1 gene and inefficient splicing of the SMN2 gene caused by a C>T mutation in exon 7.
20186123	Mutation	Spinal Muscular Atrophy	We observed that the C-to-T transition in SMN2 creates a putative binding site for the RNA-binding protein Sam68.; In vivo splicing assays showed that Sam68 triggers SMN2 exon-7 skipping.

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q16637	4	S	Phosphoserine	PKA	No	None detected
Q16637	5	S	Phosphoserine	PKA	No	None detected
Q16637	8	S	Phosphoserine	PKA	No	None detected
Q16637	25	T	Phosphothreonine	-	No	None detected
Q16637	28	S	Phosphoserine	-	No	None detected
Q16637	31	S	Phosphoserine	-	No	None detected
Q16637	69	T	Phosphothreonine	-	No	None detected
Q16637	85	T	Phosphothreonine	PKA	No	None detected
Q16637	187	S	Phosphoserine	PKA	No	None detected

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	5.695	5.792	0.152	0.373	NS
BRCA	Breast invasive carcinoma	112	1100	5.46	5.713	0.25	1.12e-05	NS
CESC	Cervical and endocervical cancers	3	306	6.018	5.968	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.256	6.128	0.824	7.76e-15	Over
ESCA	Esophageal carcinoma	11	185	4.865	5.431	0.49	0.0249	NS
GBM	Glioblastoma multiforme	5	166	5.448	5.834	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.344	5.381	0.088	0.388	NS
KIRC	Kidney renal clear cell carcinoma	72	534	5.039	5.308	0.332	1.47e-08	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	4.828	5.09	0.266	0.0103	NS
LAML	Acute Myeloid Leukemia	0	173	NA	6.073	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.464	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.228	5.336	0.092	0.332	NS
LUAD	Lung adenocarcinoma	59	517	5.364	5.63	0.301	0.000578	NS
LUSC	Lung squamous cell carcinoma	51	501	5.196	5.659	0.533	7.28e-09	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	5.791	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	4.993	5.344	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.703	5.642	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	5.4	5.541	0.165	0.0469	NS
READ	Rectum adenocarcinoma	10	167	5.268	6.091	0.775	0.00122	Over
SARC	Sarcoma	2	263	4.864	5.426	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.523	5.547	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	5.438	5.495	0.185	0.0957	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.634	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.461	5.497	0.006	0.932	NS
THYM	Thymoma	2	120	5.651	6.068	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.815	6.45	0.512	4.17e-05	NS

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	5.5
Adrenal gland	0
Appendix	6.9
Bone marrow	9.5
Breast	0.1
Cerebral cortex	17.6
Cervix, uterine	2
Colon	1.6
Duodenum	0.5
Endometrium	3.9
Epididymis	27.2
Esophagus	10.8
Fallopian tube	4.2
Gallbladder	14.4
Heart muscle	0.1
Kidney	8.5
Liver	0.2
Lung	10.3
Lymph node	13.1
Ovary	6.3
Pancreas	2
Parathyroid gland	21.2
Placenta	6.8
Prostate	10
Rectum	9.3
Salivary gland	4.8
Seminal vesicle	7.4
Skeletal muscle	0
Skin	2.8
Small intestine	0
Smooth muscle	18
Spleen	7.6
Stomach	6.3
Testis	23.3
Thyroid gland	10.4
Tonsil	0
Urinary bladder	14.3

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
25692239	Underexpression	Spinal Muscular Atrophy	The second gene copy, SMN2, produces some, but not enough, functional SMN protein.
24632473	Underexpression; Mutation	Spinal Muscular Atrophy	Humans contain a second SMN gene called SMN2 thus SMA patients produce some SMN but not with sufficient levels. The majority of SMN2 mRNA does not include exon 7.; Here we show that increased expression of PSF promotes inclusion of exon 7 in the SMN2 whereas reduced expression of PSF promotes exon 7 skipping.; These results lead us to conclude that PSF interacts with an enhancer in exon 7 to promote exon 7 splicing of SMN2 pre-mRNA.
22543872	Underexpression (copy number loss)	Spinal Muscular Atrophy	The variability of disease severity inversely correlates with the copy number, and thus expression of a second, partially functional survival motor neuron gene, SMN2.
21538807	Underexpression	Spinal Muscular Atrophy	Proximal spinal muscular atrophy (SMA) is caused by low levels of the SMN protein, encoded by the Survival Motor Neuron genes (SMN1 and SMN2).
19584083	Underexpression	Spinal Muscular Atrophy	Importantly, all SMA patients carry a nearly identical copy gene, SMN2, that produces only minor levels of correctly spliced full-length transcripts and SMN protein.
16805808	Underexpression	Spinal Muscular Atrophy	Among a panel of histone deacetylase (HDAC) inhibitors investigated, suberoylanilide hydroxamic acid (SAHA) evolved as a potent and non-toxic candidate drug for the treatment of spinal muscular atrophy (SMA), an alpha-motoneurone disorder caused by insufficient survival motor neuron (SMN) protein levels.

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

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Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.38	2.3e-15	51.2	42.8	5.9	Loss
BRCA	Breast invasive carcinoma	1075	0.289	3.75e-22	27.2	54.8	18	Neutral
CESC	Cervical and endocervical cancers	292	0.303	1.3e-07	24.3	67.5	8.2	Neutral
COAD	Colon adenocarcinoma	449	0.245	1.54e-07	24.3	68.8	6.9	Neutral
ESCA	Esophageal carcinoma	183	0.331	4.83e-06	61.7	34.4	3.8	Loss
GBM	Glioblastoma multiforme	147	0.291	0.000356	12.9	80.3	6.8	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.364	1.52e-17	42.4	51.6	6	Loss
KIRC	Kidney renal clear cell carcinoma	525	0.399	1.58e-21	2.5	67	30.5	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.177	0.0026	3.8	86.8	9.4	Neutral
LAML	Acute Myeloid Leukemia	166	0.314	3.89e-05	4.8	95.2	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.237	5.8e-08	6.8	91.8	1.4	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.298	6.4e-09	13.2	60.7	26.1	Neutral
LUAD	Lung adenocarcinoma	512	0.214	1.03e-06	38.9	42.8	18.4	Loss
LUSC	Lung squamous cell carcinoma	498	0.241	4.92e-08	76.3	20.3	3.4	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.558	6.16e-26	73.3	24.3	2.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.298	5.51e-05	18.1	74.6	7.3	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.224	0.00422	6.2	90.1	3.7	Neutral
PRAD	Prostate adenocarcinoma	491	0.254	1.07e-08	20.8	78.2	1	Neutral
READ	Rectum adenocarcinoma	164	0.344	6.57e-06	32.9	58.5	8.5	Neutral
SARC	Sarcoma	255	0.35	9.34e-09	16.9	56.9	26.3	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.428	8.53e-18	27	58.6	14.4	Neutral
STAD	Stomach adenocarcinoma	413	0.166	7e-04	38.5	57.1	4.4	Loss
TGCT	Testicular Germ Cell Tumors	150	0.291	0.000304	70	27.3	2.7	Loss
THCA	Thyroid carcinoma	497	0.089	0.0463	0	96.6	3.4	Neutral
THYM	Thymoma	119	0.084	0.363	1.7	90.8	7.6	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.33	4.51e-15	20.3	76	3.7	Neutral

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR [ TOP ]
There is no record.

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	2	Medium
Appendix	2	Medium
Bone marrow	3	High
Breast	2	Medium
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	2	Medium
Colon	2	Medium
Duodenum	2	Medium
Endometrium	2	Medium
Epididymis	2	Medium
Esophagus	2	Medium
Fallopian tube	2	Medium
Gallbladder	3	High
Heart muscle	2	Medium
Hippocampus	2	Medium
Kidney	2	Medium
Liver	0	Not detected
Lung	1	Low
Lymph node	2	Medium
Nasopharynx	3	High
Oral mucosa	2	Medium
Ovary	0	Not detected
Pancreas	3	High
Parathyroid gland	2	Medium
Placenta	2	Medium
Prostate	2	Medium
Rectum	2	Medium
Salivary gland	2	Medium
Seminal vesicle	1	Low
Skeletal muscle	2	Medium
Skin	2	Medium
Small intestine	2	Medium
Smooth muscle	1	Low
Soft tissue	0	Not detected
Spleen	1	Low
Stomach	2	Medium
Testis	3	High
Thyroid gland	2	Medium
Tonsil	2	Medium
Urinary bladder	3	High
Vagina	2	Medium

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

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Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.0753	NS	24476821
BRCA	Breast invasive carcinoma	521	5.36e-05	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0303	Significant	22810696
GBM	Glioblastoma multiforme	157	0.974	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.262	NS	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0102	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.122	NS	26824661
LUAD	Lung adenocarcinoma	230	0.000505	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.00539	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.0404	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.0156	Significant	26544944
READ	Rectum adenocarcinoma	67	0.0412	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.929	NS	26091043
STAD	Stomach adenocarcinoma	277	0.0644	NS	25079317
THCA	Thyroid carcinoma	391	0.225	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.677	NS	23636398

> Overall survival

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Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.927	0.721	NS
BRCA	Breast invasive carcinoma	1079	0.988	0.956	NS
CESC	Cervical and endocervical cancers	291	0.626	0.188	NS
COAD	Colon adenocarcinoma	439	0.753	0.324	NS
ESCA	Esophageal carcinoma	184	1.375	0.331	NS
GBM	Glioblastoma multiforme	158	0.893	0.65	NS
HNSC	Head and Neck squamous cell carcinoma	518	1.251	0.265	NS
KIRC	Kidney renal clear cell carcinoma	531	1.626	0.0256	Shorter
KIRP	Kidney renal papillary cell carcinoma	287	5.131	7.26e-05	Shorter
LAML	Acute Myeloid Leukemia	149	0.453	0.0114	Longer
LGG	Brain Lower Grade Glioma	511	0.955	0.858	NS
LIHC	Liver hepatocellular carcinoma	365	1.101	0.715	NS
LUAD	Lung adenocarcinoma	502	1.041	0.848	NS
LUSC	Lung squamous cell carcinoma	494	0.988	0.952	NS
OV	Ovarian serous cystadenocarcinoma	303	1.121	0.576	NS
PAAD	Pancreatic adenocarcinoma	177	1.452	0.227	NS
PCPG	Pheochromocytoma and Paraganglioma	179	1.27	0.865	NS
PRAD	Prostate adenocarcinoma	497	1.547	0.63	NS
READ	Rectum adenocarcinoma	159	0.837	0.75	NS
SARC	Sarcoma	259	1.474	0.156	NS
SKCM	Skin Cutaneous Melanoma	459	0.845	0.379	NS
STAD	Stomach adenocarcinoma	388	1.396	0.129	NS
TGCT	Testicular Germ Cell Tumors	134	1233040880.026	0.257	NS
THCA	Thyroid carcinoma	500	2.435	0.183	NS
THYM	Thymoma	119	3.583	0.224	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.704	0.252	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.088	0.0763	NS
BRCA	Breast invasive carcinoma	1071	0.022	0.47	NS
CESC	Cervical and endocervical cancers	167	-0.051	0.515	NS
COAD	Colon adenocarcinoma	445	-0.016	0.736	NS
ESCA	Esophageal carcinoma	162	-0.037	0.639	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.067	0.159	NS
KIRC	Kidney renal clear cell carcinoma	531	0.129	0.00289	Higher
KIRP	Kidney renal papillary cell carcinoma	260	0.283	3.45e-06	Higher
LIHC	Liver hepatocellular carcinoma	347	-0.033	0.537	NS
LUAD	Lung adenocarcinoma	507	0.084	0.0584	NS
LUSC	Lung squamous cell carcinoma	497	0.124	0.00578	Higher
OV	Ovarian serous cystadenocarcinoma	302	-0.123	0.0328	Lower
PAAD	Pancreatic adenocarcinoma	176	-0.057	0.45	NS
READ	Rectum adenocarcinoma	156	-0.027	0.738	NS
SKCM	Skin Cutaneous Melanoma	410	0.002	0.97	NS
STAD	Stomach adenocarcinoma	392	0.005	0.925	NS
TGCT	Testicular Germ Cell Tumors	81	0.063	0.579	NS
THCA	Thyroid carcinoma	499	-0.001	0.979	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.041	0.362	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.073	0.232	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.088	0.0494	Higher
KIRC	Kidney renal clear cell carcinoma	525	0.091	0.0375	Higher
LGG	Brain Lower Grade Glioma	514	0.107	0.0157	Higher
LIHC	Liver hepatocellular carcinoma	366	0.178	0.000639	Higher
OV	Ovarian serous cystadenocarcinoma	296	-0.004	0.947	NS
PAAD	Pancreatic adenocarcinoma	176	-0.089	0.242	NS
STAD	Stomach adenocarcinoma	406	0.017	0.73	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.066	0.131	NS

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for SMN2.

Summary
Symbol	SMN2
Name	survival of motor neuron 2, centromeric
Aliases	SMNC; TDRD16B; tudor domain containing 16B; C-BCD541
Location	5q13.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
24632473	Spinal Muscular Atrophy	partner	PSF	Negative correlation	Here we show that increased expression of PSF promotes inclusion of exon 7 in the SMN2 whereas reduced expression of PSF promotes exon 7 skipping.
20186123	Spinal Muscular Atrophy	partner	SAM68	Negative correlation	In vivo splicing assays showed that Sam68 triggers SMN2 exon-7 skipping. Moreover, mutations in the Sam68-binding site of SMN2 or in the RNA-binding domain of Sam68 completely abrogated its effect on exon-7 skipping.
16805808	Spinal Muscular Atrophy	upstream	SAHA	Positive regulation	SAHA activated survival motor neuron gene 2 (SMN2), the target gene for SMA therapy, and inhibited HDACs at submicromolar doses, providing evidence that SAHA is more efficient than the HDAC inhibitor valproic acid, which is under clinical investigation for SMA treatment.