SYNM synemin [Homo sapiens (human)] - Gene

Summary

Official Symbol: SYNMprovided by HGNC
Official Full Name: syneminprovided by HGNC
Primary source: HGNC:HGNC:24466
See related: Ensembl:ENSG00000182253 MIM:606087; AllianceGenome:HGNC:24466
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: DMN; SYN
Summary: The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in esophagus (RPKM 95.9), prostate (RPKM 82.3) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (99105080..99141767)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (96869529..96908995)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (99645286..99675798)

Chromosome 15 - NC_000015.10 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?

Synemin promotes pulmonary artery smooth muscle cell phenotypic switch in shunt-induced pulmonary arterial hypertension.
Title: Synemin promotes pulmonary artery smooth muscle cell phenotypic switch in shunt-induced pulmonary arterial hypertension.
A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.
Title: A risk model of gene signatures for predicting platinum response and survival in ovarian cancer.
c-Abl Tyrosine Kinase Is Regulated Downstream of the Cytoskeletal Protein Synemin in Head and Neck Squamous Cell Carcinoma Radioresistance and DNA Repair.
Title: c-Abl Tyrosine Kinase Is Regulated Downstream of the Cytoskeletal Protein Synemin in Head and Neck Squamous Cell Carcinoma Radioresistance and DNA Repair.
Synemin is a target of myocardin family coactivators.
Title: Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators.
a novel heterozygous missense mutation p.(Trp538Arg) of SYNM was identified and cosegregated with the affected members in a Chinese family
Title: A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy.
LMOD1, SYNPO2, PDLIM7, PLN, and SYNM down-regulation reflect the altered phenotype of smooth muscle cells in vascular disease and could be early sensitive markers of SMC dedifferentiation.
Title: Phenotypic Modulation of Smooth Muscle Cells in Atherosclerosis Is Associated With Downregulation of LMOD1, SYNPO2, PDLIM7, PLN, and SYNM.
alpha-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin
Title: α-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin.
Immunohistochemistry of synemin in reactive astrocytes and Rosenthal fibers in two patients with Alexander disease. There was an abundance of GFAP-positive Rosenthal fibers and widespread reactive gliosis in the white matter and subpial regions.
Title: Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.
synemin positively regulates glioblastoma cell proliferation by helping sequester PP2A away from Akt, thereby favoring Akt activation.
Title: Synemin promotes AKT-dependent glioblastoma cell proliferation by antagonizing PP2A.
Synemin knock-down did not influence the cytoskeleton expression and organization of human Chang liver cells
Title: Synemin down-regulation in human hepatocellular carcinoma does not destabilize cytoskeletons in vivo.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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

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

D15S697E (e-PCR)
- UniSTS:151604

PMC34549P1 (e-PCR)
- UniSTS:273211

PMC34549P10 (e-PCR)
- UniSTS:273212

WI-15574 (e-PCR)
- UniSTS:74557

PMC34549P11 (e-PCR)
- UniSTS:273213

PMC34549P2 (e-PCR)
- UniSTS:273214

PMC34549P3 (e-PCR)
- UniSTS:273215

PMC34549P4 (e-PCR)
- UniSTS:273216

PMC34549P5 (e-PCR)
- UniSTS:273217

PMC34549P6 (e-PCR)
- UniSTS:273218

PMC34549P7 (e-PCR)
- UniSTS:273219

PMC34549P8 (e-PCR)
- UniSTS:273220

PMC34549P9 (e-PCR)
- UniSTS:273221

NoName (e-PCR)
- UniSTS:482664

RH98741 (e-PCR)
- UniSTS:86147

RH70301 (e-PCR)
- UniSTS:52172

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables intermediate filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables intermediate filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	IDA Inferred from Direct Assay more info	PubMed
enables vinculin binding	IBA Inferred from Biological aspect of Ancestor more info
enables vinculin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in fast-twitch skeletal muscle fiber contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament cytoskeleton organization	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IEA Inferred from Electronic Annotation more info
is_active_in costamere	IBA Inferred from Biological aspect of Ancestor more info
located_in costamere	IDA Inferred from Direct Assay more info	PubMed
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in neurofilament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament cytoskeleton	TAS Traceable Author Statement more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: synemin

Names: desmuslin; synemin alpha; synemin beta; synemin, intermediate filament 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.

Genomic

NG_008210.2 RefSeqGene

Range

11867..42382

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_415

mRNA and Protein(s)

NM_015286.6 → NP_056101.5 synemin isoform B

See identical proteins and their annotated locations for NP_056101.5

Status: REVIEWED

Description

Transcript Variant: This variant (B) lacks an internal segment of the coding region, compared to variant A. It maintains the reading frame and encodes a shorter isoform (B), compared to isoform A.

Source sequence(s)

AB002351, AC036108, AW292788

Consensus CDS

CCDS73786.1

UniProtKB/TrEMBL

A0A075B7B1

Related

ENSP00000472953.1, ENST00000594047.2

Conserved Domains (2) summary

pfam00038
Location:11 → 318

Filament; Intermediate filament protein

cl00514
Location:59 → 169

Nitro_FMN_reductase; Proteins of this family catalyze the reduction of flavin or nitrocompounds using NAD(P)H as electron donor in a obligatory two-electron transfer, utilizing FMN or FAD as cofactor. They are often found to be homodimers. Enzymes of this family are ...
NM_145728.3 → NP_663780.2 synemin isoform A

See identical proteins and their annotated locations for NP_663780.2

Status: REVIEWED

Description

Transcript Variant: This variant (A) encodes the longer isoform (A).

Source sequence(s)

AB002351, AC036108, AW292788

Consensus CDS

CCDS73787.1

UniProtKB/Swiss-Prot

A7E2Y2, O15061, Q2TBJ4, Q5NJJ9, Q8TE61, Q8TE62

Related

ENSP00000336775.7, ENST00000336292.11

Conserved Domains (2) summary

pfam00038
Location:11 → 318

Filament; Intermediate filament protein

cl00514
Location:59 → 169

Nitro_FMN_reductase; Proteins of this family catalyze the reduction of flavin or nitrocompounds using NAD(P)H as electron donor in a obligatory two-electron transfer, utilizing FMN or FAD as cofactor. They are often found to be homodimers. Enzymes of this family are ...