SYNM - synemin Gene

Homo sapiens

Also known as DMN; SYN

Gene ID: 23336 | Gene type: protein coding

About SYNM

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:99,105,080-99,141,767 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues and 68 paralogues. Broad expression in esophagus (RPKM 95.9), prostate (RPKM 82.3) and 15 other tissues.

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]

SYNM Products(2)

mRNA	Protein	Name
NM_015286.6	NP_056101.5	synemin isoform B
NM_145728.3	NP_663780.2	synemin isoform A

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11353857	GOA
enables structural constituent of cytoskeleton	IDA IDA: Inferred from direct assay	11737198	GOA
enables structural constituent of muscle	IDA IDA: Inferred from direct assay	11737198	GOA
enables vinculin binding	IDA IDA: Inferred from direct assay	18028034	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in costamere	IDA IDA: Inferred from direct assay	16777071	GOA
located in intermediate filament	IDA IDA: Inferred from direct assay	11737198	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SYNM Protein Structure

Filament

0
300
600
900
1200
1564 a.a.

Protein Preferred Names

Protein Names

synemin

desmuslin

SYNM Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SYNM	O15061	TTN	Homo sapiens	Q8WZ42	Y2H	25447537
Intra	SYNM	O15061	TTN	Homo sapiens	Q8WZ42	Pull Down	25447537

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Alexander Disease

Alexander'S Disease	ALXDRD
Alexanders Leukodystrophy	Axd
Demyelinogenic Leukodystrophy	Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia
Alx	Dysmyelinogenic Leukodystrophy
Fibrinoid Degeneration Of Astrocytes	Leukodystrophy With Rosenthal Fibers
Alexander Disease Type Ii	Axd Type Ii
Alexander Disease Type I	Axd Type I
Alexanders Disease	Alexander'S Leukodystrophy

Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy

Epidermolysis Bullosa Simplex With Muscular Dystrophy	Md-Ebs
Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy	EBS5B
Ebsmd	Mdebs
Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex	Ebs-Md
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	Epidermolysa Bullosa Simplex With Muscular Dystrophy
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy	Ebs With Muscular Dystrophy
Muscular Dystrophy With Epidermolysis Bullosa Simplex	Epidermolysa Bullosa Simplex, With Muscular Dystrophy

Epidermolysis Bullosa Simplex 5a, Ogna Type

Epidermolysis Bullosa Simplex, Ogna Type	EBS5A
Ebsog	Epidermolysis Bullosa Simplex Ogna Type
Ebs-Og	Ebs-O
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement	Plec-Related Intermediate Ebs Without Extracutaneous Involvement
Ebs1	Ebso
Epidermolysis Bullosa Simplex 1	O-Ebs
Simplex Epidermolysis Bullosa_ogna Type

Neuroendocrine Carcinoma

Neuroendocrine Cancer	Carcinoma Neuroendocrine
Carcinoma, Neuroendocrine

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy	Desmin-Related Myopathy
MFM1	Myopathy, Myofibrillar, Desmin-Related
Drm	Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy	Myofibrillar Myopathy 1
Desminopathy	Muscular Dystrophy, Limb-Girdle, Type 2r
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7	Desminopathy, Primary
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly	Arvd7, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly	Arvc7, Formerly
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly	Ibm1, Formerly
Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly	Cmd1f And Lgmd1d, Formerly
Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy	Cdcd3, Formerly
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly	Lgmd2r, Formerly
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r	Arrhythmogenic Right Ventricular Cardiomyopathy 7
Arvc7	Arvd7
Autosomal Dominant Inclusion Body Myopathy 1	Cdcd3
Cmd1f And Lgmd1d	Desminopathy Primary
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d	Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
Familial Arrhythmogenic Right Ventricular Dysplasia 7	Lgmd2r
Limb-Girdle Muscular Dystrophy 2r	Mfm Desmin-Related
Myopathy Myofibrillar Desmin-Related	Dystrophy, Muscular, Limb-Girdle, Type 2r

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency	Lgmd2q
Muscular Dystrophy, Limb-Girdle, Type 2q

Giant Axonal Neuropathy 2

Epithelial Basement Membrane Dystrophy

Ebmd	Corneal Dystrophy, Epithelial Basement Membrane
Cogan Corneal Dystrophy	Microcystic Corneal Dystrophy
Anterior Basement Membrane Dystrophy	Cogan Microcystic Epithelial Dystrophy
Map-Dot-Fingerprint Dystrophy	Microscopic Cystic Corneal Dystrophy

Myopathy

Muscular Diseases

Myopathies

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation	Ebsmp
Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering	Ebs-Mp
EBS2F	Ebs With Mottled Pigmentation
Epidermolysis Bullosa Simplex-Mp	Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering
Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Myopathy, Myofibrillar, 3

Myotilinopathy	Myofibrillar Myopathy 3
MFM3	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Lgmd1a	Muscular Dystrophy, Limb-Girdle, Type 1a
Myopathy, Myofibrillar, Myotilin-Related	Muscular Dystrophy, Limb-Girdle, Type 1, Formerly
Lgmd1, Formerly	Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly
Lgmd1a, Formerly	Qualitative Or Quantitative Defects Of Myotilin
Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency	Distal Myotilinopathy
Lgmd1	Limb-Girdle Muscular Dystrophy 1a
Mfm Myotilin-Related	Muscular Dystrophy, Limb-Girdle, Type 1
Myopathy Myofibrillar Myotylin-Related	Myopathy, Myofibrillar, Type 3

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14096	SYNM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SYNM	VGNC	VGNC:35529
Macaca mulatta	SYNM	VGNC	VGNC:78201
Rattus norvegicus	SYNM	RGD	RGD:727872
Mus musculus	SYNM	MGD	MGI:2661187
Canis familiaris	SYNM	VGNC	VGNC:53243

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