| Type | Description |
|---|---|
| Definition | sarcospan |
| Date | Results | Publications |
|---|---|---|
| 2019-07-13 11:51:00 | Data indicate that Sspn is an Nkx2-5 modifier gene. Complete loss of Sspn function does not cause heart defects but does increase the incidence of muscular ventricular septal defects (VSDs) in combination with an Nkx2-5 mutation. | 28406175 |
| 2017-07-22 12:37:00 | Our data suggest TWIST1 and SSPN to be the functionally relevant androgenetic alopecia genes at the 7p21.1 and 12p12.1 risk loci, respectively. | 27060448 |
| 2017-06-10 11:38:00 | When human SSPN is expressed at three-fold levels in mdx mice, this increase in adhesion complex abundance improves muscle membrane stability, preventing many of the histopathological changes associated with Duchenne muscular dystrophy | 27798107 |
| 2010-12-05 22:08:00 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 20935629 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| Type | IDs |
|---|---|
| Synonymous | DAGA5, KRAG, NSPN, SPN1, SPN2 |
| Gene |
UniProtKB-ID:
SSPN_HUMAN
UniprotKB:
Q14714
UniParc:
UPI000002B43B,
UPI0000135FF0,
UPI0000E59552
EMBL:
AC055720,
AK092925,
AF016028,
X89105,
AL136756,
AC022509,
BC062299
Ensembl:
ENSG00000123096
KO:
hsa:8082
|
| Nucleutide sequences |
EMBL-CDS:
AAC61660.2,
CAA61479.1,
AAH62299.1,
BAG52629.1,
CAB66690.1
Ensembl_TRS:
ENST00000540266,
ENST00000422622,
ENST00000242729
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000242729,
ENSP00000396087,
ENSP00000442893
RefSeq:
NP_005077.2,
XP_011519156.1,
XP_011519155.1,
NP_001129295.1,
XP_011519157.1
|
| Others |
UniRef100:
UniRef100_Q14714
UniRef90:
UniRef90_Q14714
UniRef50:
UniRef50_Q14714
UniGene:
Hs.183428
CCDS:
CCDS44850.1,
CCDS8707.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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