SMN2 | ENSG00000205571 | NCBI 6607

Details for: SMN2

Gene ID: 6607

Symbol: SMN2

Ensembl ID: ENSG00000205571

Description: survival of motor neuron 2, centromeric

Associated with

Disease
(R-HSA-1643685)
Infectious disease
(R-HSA-5663205)
Metabolism of non-coding rna
(R-HSA-194441)
Metabolism of rna
(R-HSA-8953854)
Sars-cov-2 infection
(R-HSA-9694516)
Sars-cov-2 modulates host translation machinery
(R-HSA-9754678)
Sars-cov-2-host interactions
(R-HSA-9705683)
Sars-cov infections
(R-HSA-9679506)
Snrnp assembly
(R-HSA-191859)
Viral infection pathways
(R-HSA-9824446)
Axon
(GO:0030424)
Cajal body
(GO:0015030)
Cytoplasm
(GO:0005737)
Cytoplasmic ribonucleoprotein granule
(GO:0036464)
Cytosol
(GO:0005829)
Dna-templated transcription termination
(GO:0006353)
Gemini of coiled bodies
(GO:0097504)
Identical protein binding
(GO:0042802)
Nervous system development
(GO:0007399)
Neuron projection
(GO:0043005)
Nuclear body
(GO:0016604)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Perikaryon
(GO:0043204)
Protein binding
(GO:0005515)
Rna binding
(GO:0003723)
Smn-sm protein complex
(GO:0034719)
Smn complex
(GO:0032797)
Spliceosomal complex assembly
(GO:0000245)
Spliceosomal snrnp assembly
(GO:0000387)
Z disc
(GO:0030018)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 52.0106
Cell Significance Index: -8.0900
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 31.5009
Cell Significance Index: -7.9900
Cell Name: embryonic stem cell (CL0002322)
Fold Change: 17.6964
Cell Significance Index: -7.2900
Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 16.6643
Cell Significance Index: -6.7700
Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 7.1014
Cell Significance Index: -6.7800
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 6.7642
Cell Significance Index: -8.3400
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 3.5503
Cell Significance Index: 21.9700
Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 2.7138
Cell Significance Index: -7.2700
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 2.1287
Cell Significance Index: -8.4000
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 1.6640
Cell Significance Index: 27.4200
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.8960
Cell Significance Index: 170.5200
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.6992
Cell Significance Index: 69.1700
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 0.6671
Cell Significance Index: -1.4600
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.6599
Cell Significance Index: 14.0600
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.6257
Cell Significance Index: 12.9800
Cell Name: thyroid follicular cell (CL0002258)
Fold Change: 0.5713
Cell Significance Index: 6.0700
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.4773
Cell Significance Index: 260.6500
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.4654
Cell Significance Index: 420.2100
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.4255
Cell Significance Index: 2.5500
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.3640
Cell Significance Index: 39.5900
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.3568
Cell Significance Index: 58.0300
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.3077
Cell Significance Index: 18.4700
Cell Name: proerythroblast (CL0000547)
Fold Change: 0.2805
Cell Significance Index: 4.0200
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.2726
Cell Significance Index: 17.1800
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.1965
Cell Significance Index: 10.2100
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.1832
Cell Significance Index: 2.5000
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.1539
Cell Significance Index: 10.6500
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.1492
Cell Significance Index: 4.0600
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.1133
Cell Significance Index: 22.7200
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1081
Cell Significance Index: 14.8500
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.0853
Cell Significance Index: 2.2800
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0842
Cell Significance Index: 15.1800
Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
Fold Change: 0.0737
Cell Significance Index: 1.0400
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.0488
Cell Significance Index: 5.7600
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.0484
Cell Significance Index: 1.5500
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0419
Cell Significance Index: 15.0400
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.0417
Cell Significance Index: 2.1700
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.0391
Cell Significance Index: 4.5600
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0296
Cell Significance Index: 3.7900
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0281
Cell Significance Index: 0.4700
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.0268
Cell Significance Index: 0.6700
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.0256
Cell Significance Index: 3.1500
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0208
Cell Significance Index: 9.2100
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0189
Cell Significance Index: 3.7600
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.0131
Cell Significance Index: 0.3700
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.0061
Cell Significance Index: 0.3100
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.0042
Cell Significance Index: 0.6100
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.0031
Cell Significance Index: 0.3500
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.0029
Cell Significance Index: 0.0800
Cell Name: helper T cell (CL0000912)
Fold Change: 0.0028
Cell Significance Index: 0.0400
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0027
Cell Significance Index: 5.0200
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.0019
Cell Significance Index: 0.0400
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0015
Cell Significance Index: -0.2600
Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0028
Cell Significance Index: -5.1200
Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0040
Cell Significance Index: -6.1200
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.0044
Cell Significance Index: -0.2000
Cell Name: radial glial cell (CL0000681)
Fold Change: -0.0051
Cell Significance Index: -0.0300
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0061
Cell Significance Index: -8.2800
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0064
Cell Significance Index: -4.0800
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0069
Cell Significance Index: -5.1300
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0072
Cell Significance Index: -5.4500
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0079
Cell Significance Index: -4.9500
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0085
Cell Significance Index: -6.2000
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0127
Cell Significance Index: -5.7600
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0129
Cell Significance Index: -7.2700
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.0141
Cell Significance Index: -0.3700
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.0156
Cell Significance Index: -0.4000
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0222
Cell Significance Index: -1.0500
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0224
Cell Significance Index: -1.6700
Cell Name: lactocyte (CL0002325)
Fold Change: -0.0228
Cell Significance Index: -2.9500
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0233
Cell Significance Index: -0.6700
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0292
Cell Significance Index: -2.0700
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0294
Cell Significance Index: -3.0000
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0301
Cell Significance Index: -1.9500
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0446
Cell Significance Index: -9.4000
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.0522
Cell Significance Index: -3.2000
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0599
Cell Significance Index: -1.6000
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.0625
Cell Significance Index: -0.6800
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.0637
Cell Significance Index: -1.3300
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0677
Cell Significance Index: -3.8000
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0738
Cell Significance Index: -5.6600
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0753
Cell Significance Index: -3.5100
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0775
Cell Significance Index: -8.0700
Cell Name: neuroendocrine cell (CL0000165)
Fold Change: -0.0813
Cell Significance Index: -1.0300
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0847
Cell Significance Index: -2.9800
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0882
Cell Significance Index: -6.9900
Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0907
Cell Significance Index: -1.7700
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0947
Cell Significance Index: -4.9700
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.0961
Cell Significance Index: -1.0000
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.0974
Cell Significance Index: -0.6600
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.1025
Cell Significance Index: -2.2200
Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.1116
Cell Significance Index: -1.3300
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.1293
Cell Significance Index: -2.2400
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: -0.1312
Cell Significance Index: -1.3700
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.1315
Cell Significance Index: -4.6100
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.1316
Cell Significance Index: -5.8200
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.1469
Cell Significance Index: -6.0200
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.1558
Cell Significance Index: -1.7700
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.1576
Cell Significance Index: -2.7000
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.1577
Cell Significance Index: -5.4800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Other Information

Description

**Key Characteristics:** 1. **Location:** The SMN2 gene is located on chromosome 5q, near the centromere. 2. **Expression:** The SMN2 gene is expressed in numerous cell types, including retinal bipolar neurons, pulmonary interstitial fibroblasts, and skeletal muscle satellite cells. 3. **Function:** The SMN2 gene encodes a protein that is similar to the SMN protein, but with a different isoform structure. The SMN2 protein is also involved in the assembly of the spliceosomal complex and the regulation of alternative splicing. 4. **Alternative Splicing:** The SMN2 gene undergoes alternative splicing, resulting in two main isoforms: SMN1 and SMN2. The SMN1 isoform is the primary functional isoform, while the SMN2 isoform is often associated with SMA due to its reduced expression levels. **Pathways and Functions:** 1. **Spliceosomal Complex Assembly:** The SMN2 gene plays a crucial role in the assembly of the spliceosomal complex, which is essential for the splicing of pre-mRNA into mature mRNA. 2. **Alternative Splicing:** The SMN2 gene is involved in the regulation of alternative splicing, which is a critical process in gene expression. 3. **RNA Binding:** The SMN2 protein interacts with various RNA-binding proteins, modulating the activity of the spliceosomal complex. 4. **Viral Infections:** The SMN2 gene has been implicated in the regulation of host translation machinery in response to viral infections, such as SARS-CoV-2. **Clinical Significance:** 1. **Spinal Muscular Atrophy (SMA):** Mutations or alterations in the SMN2 gene are the primary cause of SMA, a devastating disease characterized by the progressive degeneration of motor neurons. 2. **Neurological Disorders:** The SMN2 gene has been linked to various neurological disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 3. **Viral Infections:** The SMN2 gene plays a critical role in the regulation of host translation machinery in response to viral infections, such as SARS-CoV-2. 4. **Cancer:** The SMN2 gene has been implicated in the development and progression of certain cancers, including lung cancer and breast cancer. In conclusion, the SMN2 gene is a complex and multifaceted gene that plays a critical role in maintaining the health and function of motor neurons. Its dysregulation has been linked to various neurological disorders, including SMA, ALS, and FTD, as well as viral infections and cancer. Further research is needed to fully understand the complexities of the SMN2 gene and its role in human disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.