Free for academic non-profit institutions. Other users need a Commercial license
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 (Synemin) is a Protein Coding gene. Diseases associated with SYNM include Alexander Disease and Myopathy, Myofibrillar, 1. Among its related pathways are Cytoskeleton remodeling Neurofilaments. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of muscle. An important paralog of this gene is NES.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005200 | structural constituent of cytoskeleton | IEA,IDA | 11737198 |
GO:0005515 | protein binding | IPI | 11353857 |
GO:0008307 | structural constituent of muscle | IEA,IDA | 11737198 |
GO:0017166 | vinculin binding | IBA,IDA | 18028034 |
GO:0019215 | intermediate filament binding | IBA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005882 | intermediate filament | IEA,NAS | 11353857 |
GO:0005912 | adherens junction | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Neurofilaments
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031443 | fast-twitch skeletal muscle fiber contraction | IBA | 21873635 |
GO:0045104 | intermediate filament cytoskeleton organization | IEA,TAS | 16777071 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SYNM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SYNM 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Synm 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Synm 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SYNM 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SYNM 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SYNM 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SYNM 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SYNM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | synm 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | synm 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
932418 | Likely Benign: not provided | 99,105,682(+) |
C/T NM_145728.3(SYNM):c.483C>T (p.Ser161=) |
SYNONYMOUS | |
rs113339047 | Benign: not provided | 99,130,556(+) |
C/T NM_145728.3(SYNM):c.2196C>T (p.Leu732=) |
SYNONYMOUS | |
rs114631265 | Benign: not provided | 99,130,599(+) |
G/A NM_145728.3(SYNM):c.2239G>A (p.Glu747Lys) |
MISSENSE | |
rs115301553 | Benign: not provided | 99,131,601(+) |
G/A NM_145728.3(SYNM):c.3241G>A (p.Glu1081Lys) |
MISSENSE | |
rs117317703 | Benign: not provided | 99,131,570(+) |
C/T NM_145728.3(SYNM):c.3210C>T (p.Thr1070=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
alexander disease |
|
|
myopathy, myofibrillar, 1 |
|
|
giant axonal neuropathy 2 |
|
|
pleomorphic xanthoastrocytoma |
|
|
myopathy, myofibrillar, 3 |
|
|