SYNM - synemin Gene

Also Known as DMN; SYN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23336

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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	SYNM	NCBI