STMN2 stathmin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STMN2provided by HGNC
Official Full Name: stathmin 2provided by HGNC
Primary source: HGNC:HGNC:10577
See related: Ensembl:ENSG00000104435 MIM:600621; AllianceGenome:HGNC:10577
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCG10; SCGN10
Summary: This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]
Expression: Biased expression in brain (RPKM 155.5) and adrenal (RPKM 33.4) See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (79611117..79666158)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (80042462..80097513)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (80523352..80578393)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
Title: Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
TDP43 blocks misprocessing of STMN2 RNA.
Title: TDP43 blocks misprocessing of STMN2 RNA.
STMN2 overexpression promotes cell proliferation and EMT in pancreatic cancer mediated by WNT/beta-catenin signaling.
Title: STMN2 overexpression promotes cell proliferation and EMT in pancreatic cancer mediated by WNT/β-catenin signaling.
Analysis of STMN2 CA repeats in italian ALS patients shows no association.
Title: Analysis of STMN2 CA repeats in italian ALS patients shows no association.
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk.
Title: NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk.
STMN2 mediates nuclear translocation of Smad2/3 and enhances TGFbeta signaling by destabilizing microtubules to promote epithelial-mesenchymal transition in hepatocellular carcinoma.
Title: STMN2 mediates nuclear translocation of Smad2/3 and enhances TGFβ signaling by destabilizing microtubules to promote epithelial-mesenchymal transition in hepatocellular carcinoma.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Title: Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
STMN2 is a key regulator functionally connected to known Parkinson's disease risk genes. Network analysis predicts a function of human STMN2 in synaptic trafficking. [Meta-Analysis}
Title: The landscape of multiscale transcriptomic networks and key regulators in Parkinson's disease.
premature polyadenylation-mediated reduction in stathmin-2 is a hallmark of ALS-FTD that functionally links reduced nuclear TDP-43 function to enhanced neuronal vulnerability.
Title: Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration.
expression of STMN2, which encodes a microtubule regulator, declined after TDP-43 knockdown and TDP-43 mislocalization as well as in patient-specific motor neurons and postmortem patient spinal cord. STMN2 loss upon reduced TDP-43 function was due to altered splicing, which is functionally important, as we show STMN2 is necessary for normal axonal outgrowth and regeneration.
Title: ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1683 (e-PCR)
- UniSTS:154179

RH78014 (e-PCR)
- UniSTS:12101

RH122167 (e-PCR)
- UniSTS:134727

D8S1760 (e-PCR)
- UniSTS:33113

RH78013 (e-PCR)
- UniSTS:1894

D8S1385E (e-PCR)
- UniSTS:14728

D8S1388E (e-PCR)
- UniSTS:151190

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to nerve growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of microtubule depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of microtubule depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of microtubule polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in growth cone	IBA Inferred from Biological aspect of Ancestor more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: stathmin-2

Names: neuron-specific growth-associated protein; neuronal growth-associated protein (silencer element); stathmin-like 2; superior cervical ganglia, neural specific 10; superior cervical ganglion-10 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001199214.2 → NP_001186143.1 stathmin-2 isoform 1

See identical proteins and their annotated locations for NP_001186143.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC016240, BQ069488, DC319376

Consensus CDS

CCDS56542.1

UniProtKB/Swiss-Prot

Q93045

Related

ENSP00000429243.1, ENST00000518111.5

Conserved Domains (1) summary

pfam00836
Location:39 → 163

Stathmin; Stathmin family
NM_007029.4 → NP_008960.2 stathmin-2 isoform 2

See identical proteins and their annotated locations for NP_008960.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC016240, AC025599, DC319376

Consensus CDS

CCDS43748.1

UniProtKB/Swiss-Prot

A8K9M2, G3V110, O14952, Q6PK68, Q93045

UniProtKB/TrEMBL

B7Z4N6, C9J0X6

Related

ENSP00000220876.7, ENST00000220876.12

Conserved Domains (1) summary

pfam00836
Location:39 → 174

Stathmin; Stathmin family