| Type | Description |
|---|---|
| Definition | spectrin beta, non-erythrocytic 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-02 13:28:00 | betaIII spectrin controls the planarity of Purkinje cell dendrites by modulating perpendicular axon-dendrite interactions. | 33234719 |
| 2018-12-22 11:54:00 | bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy, are reported. | 29861105 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-04-07 21:39:00 | Observational study of gene-disease association. (HuGE Navigator) | 20198315 |
| 2009-12-02 21:41:00 | Observational study of gene-disease association. (HuGE Navigator) | 19851296 |
| Type | IDs |
|---|---|
| Synonymous | CMND, NEDHND, QV, SPNB4, SPTBN3 |
| Gene |
UniProtKB-ID:
SPTN4_HUMAN
UniprotKB:
Q9H254
UniParc:
UPI000002B418,
UPI000059D725,
UPI0000135DBB,
UPI000002B417,
UPI000002B416
EMBL:
AY004226,
AC020929,
AB046862,
AF311855,
AF082075,
AF311856,
AY004227
Ensembl:
ENSG00000160460
KO:
hsa:57731
|
| Nucleutide sequences |
EMBL-CDS:
AAF93171.1,
AAG42473.1,
AAF93172.1,
AAF93173.1,
AAG38874.1,
BAB13468.1,
AAG42474.1
Ensembl_TRS:
ENST00000392023,
ENST00000598249,
ENST00000352632
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000375877,
ENSP00000263373,
ENSP00000469242
RefSeq:
NP_066022.2,
XP_011525475.1,
XP_016882538.1,
XP_016882540.1,
XP_016882541.1,
XP_016882539.1,
NP_079489.2
|
| Others |
UniRef100:
UniRef100_Q9H254
UniRef90:
UniRef90_Q9H254
UniRef50:
UniRef50_Q9H254
UniGene:
Hs.32706
CCDS:
CCDS42569.1,
CCDS12559.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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