STMN2
stathmin 2, the group of Stathmins
Basic information
Region (hg38): 8:79611116-79666158
Previous symbols: [ "SCGN10" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the STMN2 gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 2 | 2 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 2 | 0 | 0 |
Variants in STMN2
This is a list of pathogenic ClinVar variants found in the STMN2 region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-79641529-G-C | Inborn genetic diseases | Uncertain significance (Nov 15, 2021) | ||
8-79654923-G-A | Inborn genetic diseases | Uncertain significance (Dec 13, 2022) | ||
8-79663622-T-C | Inborn genetic diseases | Uncertain significance (Mar 02, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
STMN2 | protein_coding | protein_coding | ENST00000518111 | 5 | 55362 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.977 | 0.0231 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.69 | 50 | 96.7 | 0.517 | 0.00000517 | 1222 |
Missense in Polyphen | 13 | 26.246 | 0.49532 | 352 | ||
Synonymous | -0.482 | 39 | 35.4 | 1.10 | 0.00000189 | 338 |
Loss of Function | 3.15 | 0 | 11.6 | 0.00 | 6.45e-7 | 138 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.250
Intolerance Scores
- loftool
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- 0.961
- hipred
- Y
- hipred_score
- 0.714
- ghis
- 0.653
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.866
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Low | Low | Low |
Primary Immunodeficiency | Low | Low | Low |
Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Stmn2
- Phenotype
Gene ontology
- Biological process
- microtubule depolymerization;negative regulation of microtubule depolymerization;positive regulation of neuron projection development;negative regulation of neuron projection development;regulation of microtubule polymerization or depolymerization;negative regulation of microtubule polymerization;positive regulation of microtubule depolymerization;neuron projection development;regulation of cytoskeleton organization;cellular response to nerve growth factor stimulus
- Cellular component
- cytoplasm;endosome;Golgi apparatus;membrane;lamellipodium;growth cone;neuron projection;neuronal cell body;perinuclear region of cytoplasm
- Molecular function
- protein binding;tubulin binding;calcium-dependent protein binding