SMN2
ENSG00000205571
Target class
Epigenetic regulator
Chromosome
5
Approved drugs
1
Clinical candidates (approved and in development)
1
- Approved drugs
- 1
- Clinical candidates (approved and in development)
- 1
- Chemical probe available
- Yes
- Target name
- SMN2
- Gene name
- Survival of motor neuron 2, centromeric
- Gene symbol
- SMN2
- Protein name
- Survival motor neuron protein (Component of gems 1) (Gemin-1)
- BCD541
- SMNC
- GEMIN1
- TDRD16B
- Gene biotype
- Protein coding
- Gene family
- Tudor domain containing|SMN complex|Proteins encoded by multiple genes
- Target class
- Epigenetic regulator
- Target type
- Human gene
- Tissues expressed in
- 52
- Protein localisation evidence grade
- Supported
- Highest tissue expression
- 4.92
- Tissue specificity (Gini)
- 0.219
- Tissue specificity (tau)
- 0.462
- Protein interaction confidence
- 0.874324
- Protein interaction partners
- 34
- hsa:6606
- hsa:6607
- R-HSA-191859
- R-HSA-9754678
- End position
- 70078522
- Start position
- 70049635
- Chromosome
- 5
- Strand
- Forward
- Nucleus, gem . Nucleus, Cajal body . Cytoplasm . Cytoplasmic granule . Perikaryon . Cell projection, neuron projection . Cell projection, axon . Cytoplasm, myofibril, sarcomere, Z line . Note=Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976). .
- Cytosol
- Nuclear bodies
- PubMed 11283611
- PubMed 8670859
- PubMed 12067652
- PubMed 21072240
- PubMed 14715275
- PubMed 18093976
- Tissue specificity (tau)
- 0.461612
- Expression inequality (Gini)
- 0.21904
Expression in transcripts per million
- Cervix - Ectocervix
- 4.92
- Ovary
- 4.91
- Testis
- 4.53
- Uterus
- 4.42
- Cells - EBV-transformed lymphocytes
- 4.21
Expression in transcripts per million
- Cervix - Ectocervix4.92
- Ovary4.91
- Testis4.53
- Uterus4.42
- Cells - EBV-transformed lymphocytes4.21
- Pituitary4.17
- Brain - Cerebellar Hemisphere4.16
- Nerve - Tibial4.13
- Prostate3.89
- Thyroid3.83
- Vagina3.66
- Cells - Cultured fibroblasts3.48
- Brain - Cerebellum3.29
- Colon - Sigmoid3.28
- Artery - Aorta3.26
- Artery - Tibial3.22
- Breast - Mammary Tissue3.21
- Cervix - Endocervix3.19
- Spleen3.16
- Artery - Coronary3.03
- Esophagus - Gastroesophageal Junction2.99
- Lung2.95
- Adipose - Visceral (Omentum)2.91
- Bladder2.87
- Adipose - Subcutaneous2.79
And 29 more, listed on the interactive page.
- GO:0000245
- GO:0000387
- GO:0006353
- GO:0005634
- GO:0005654
- GO:0005737
- GO:0005829
- GO:0015030
- GO:0016604
- GO:0032797
- GO:0034719
- GO:0036464
- GO:0043005
- GO:0043204
- GO:0097504
- GO:0005515
- GO:0042802
Related records
Trials (134)
- A Clinical Study of SHR-9839 as Monotherapy or in Combination With Chemotherapy Plus Adebrelimab Versus Chemotherapy Plus Adebrelimab in Patients With Advanced Esophageal Squamous Cell Carcinoma
- A Clinical Trial to Evaluate Efficacy and Safety of Two Different Formulations of Topical Calcipotriol in Patients With Mild to Moderate Plaque Psoriasis
- A Clinical Trial to Evaluate the Safety, Tolerability, and Pharmacokinetics of PGDM1400LS Alone and in Combination With VRC07-523LS and PGT121.414.LS in Healthy, HIV-uninfected Adult Participants
- A Drug-drug Interaction Study With Risdiplam Multiple Dose and Midazolam in Healthy Participants
- A IB/II Phase Clinical Study on the Safety, Tolerability, and Efficacy of SHR-9839(sc) in Combination Anti-tumor Therapy in Patients With Solid Tumors
- A Long Term Roll-over Study to Investigate the Efficacy and Safety of Adalimumab Given Long-term to Patients With Rheumatoid Arthritis
- A Master Protocol (IIBD): A Study of Multiple Drugs in Adults With Ulcerative Colitis or Crohn's Disease
- A Phase I Clinical Study of ART101 Injection in Healthy Adult Subjects
- A Phase IB/II Clinical Study of SHR-9839 for Injection Combined With Other Anti-tumor Therapies in Patients With Advanced Solid Tumors
- A Phase II Clinical Study of HRS-7058 in Combination With Antitumor Drugs in Patients With Advanced Malignant Tumour
- A Phase II Randomized Study Comparing the Efficacy and Safety of Targeted Therapy or Cancer Immunotherapy Versus Platinum-Based Chemotherapy in Patients With Cancer of Unknown Primary Site
- A Phase III Study in Subjects With Mild to Moderate Psoriasis.
- A Pilot Study of Boceprevir for the Treatment of Genotype 6 HCV
- A Prospective Randomized Double-Blinded Placebo Controlled, Explorative Phase I Trial to Investigate the Safety and Tolerability of Two Different Doses of Topically Administered APOSEC™ in Healthy Male Subjects With Artificial Dermal Wounds
- A Psoriasis Plaque Test Study With LEO 90100 Cutaneous Spray, Ointment, in Psoriasis Vulgaris
- A Single Dose Pharmacokinetics (PK) Study of GSK2434735 in Healthy Male Volunteers
- A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
- A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy
- A Study Investigating the Excretion Balance, Pharmacokinetics and Metabolism of a Single Oral Dose of [14C]-Labeled Risdiplam (RO7034067) in Healthy Male Participants
- A Study of BGM0504 Injection in Participants with Obesity or Overweight
Drugs (3)
- Nusinersen sodium SMN2 pre-mRNA positive modulator
- Onasemnogene abeparvovec Survival motor neuron protein exogenous gene
- Risdiplam SMN2 pre-mRNA positive modulator