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GeneBe

STMN2

stathmin 2, the group of Stathmins

Basic information

Region (hg38): 8:79611116-79666158

Previous symbols: [ "SCGN10" ]

Links

ENSG00000104435NCBI:11075OMIM:600621HGNC:10577Uniprot:Q93045AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STMN2 gene.

  • 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)link
8-79654923-G-A Inborn genetic diseases Uncertain significance (Dec 13, 2022)link
8-79663622-T-C Inborn genetic diseases Uncertain significance (Mar 02, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
STMN2protein_codingprotein_codingENST00000518111 555362
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9770.023100000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.695096.70.5170.000005171222
Missense in Polyphen1326.2460.49532352
Synonymous-0.4823935.41.100.00000189338
Loss of Function3.15011.60.006.45e-7138

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow

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