NEXN - nexilin F-actin binding protein Gene
Also Known as CMH20; NELIN
Species: Homo sapiens
About NEXN
This gene has 8 transcripts (splice variants), 210 orthologues, 4 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 72.6), prostate (RPKM 22.2) and 20 other tissues.
Summary
This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
NEXN Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001172309.2 | NP_001165780.1 | nexilin isoform 2 |
| NM_144573.4 | NP_653174.3 | nexilin isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
15823560 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables structural constituent of muscle |
IMP
IMP: Inferred from mutant phenotype
|
19881492 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in regulation of cell migration |
IDA
IDA: Inferred from direct assay
|
15823560 | GOA |
| involved in regulation of cytoskeleton organization |
IEP
IEP: Inferred from expression pattern
|
15823560 | GOA |
NEXN Protein Structure
I-set: Immunoglobulin I-set domain (582 - 671)
- 0
- 200
- 400
- 600
- 675 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nexilin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Dilated, 1cc |
|
|
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Cardiomyopathy, Dilated, 1e |
|
|
| Endocardial Fibroelastosis |
|
|
| Prolapse Of Urethra |
|
|
| Aarskog-Scott Syndrome |
|
|
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
|
| Clivus Chordoma |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Left Ventricular Noncompaction |
|
|
| Hypertrophic Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | NEXN | VGNC | VGNC:32025 |
| Rattus norvegicus | NEXN | RGD | RGD:708354 |
| Felis catus | NEXN | VGNC | VGNC:63787 |
| Macaca mulatta | NEXN | VGNC | VGNC:75275 |
| Canis familiaris | NEXN | VGNC | VGNC:43760 |
| Mus musculus | NEXN | MGD | MGI:1916060 |
| Others | NEXN | NCBI |