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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:Q93045AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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 (3 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.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 3 0 0

Variants in STMN2

This is a list of pathogenic ClinVar variants found in the STMN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
8-79641529-G-C not specified Uncertain significance (Nov 15, 2021)2261602
8-79654923-G-A not specified Uncertain significance (Dec 13, 2022)2334622
8-79663622-T-C not specified Uncertain significance (Mar 02, 2023)2464758

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