| Type | Description |
|---|---|
| Definition | spectrin beta, non-erythrocytic 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:27:00 | beta spectrin-dependent and domain specific mechanisms for Na(+) channel clustering. | 32425157 |
| 2020-10-24 14:02:00 | complex regulates fibroblast phenotype, fibrosis, and cardiac function. | 31550236 |
| 2019-09-21 12:22:00 | betaIV-Spectrin regulates targeting to tune cardiac response to pressure overload. | 30226828 |
| 2019-07-06 11:38:00 | Study tracked the post-weaning development of a motor phenotype that arose in mice after random insertion of a transgene into the genome. The transgene was later found to have disrupted the beta-IV spectrin gene, which was confirmed by reduced expression of betaIV spectrin protein in brain homogenates. The motor phenotype was recessive, occurring in 20% of L25+/-xL25+/- progeny. | 28582869 |
| 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 |
| Type | IDs |
|---|---|
| Synonymous | 1700022P15Rik, 5830426A08Rik, ROSA62, SpbIV, Spnb4, dyn, lnd, nmf261, nmf379, qv |
| Gene |
UniProtKB-ID:
Q8VIE5_MOUSE,
E9PX29_MOUSE,
E9PZC2_MOUSE
UniprotKB:
Q8VIE5,
E9PX29,
E9PZC2
UniParc:
UPI00000E777F,
UPI00015AA4D3,
UPI0000D8A949
EMBL:
AC158304,
AB055618,
AC157561
Ensembl:
ENSMUSG00000011751
KO:
mmu:80297
|
| Nucleutide sequences |
EMBL-CDS:
BAB83243.1
Ensembl_TRS:
ENSMUST00000011895,
ENSMUST00000108364,
ENSMUST00000108363,
ENSMUST00000108362
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000011895,
ENSMUSP00000104001,
ENSMUSP00000104000,
ENSMUSP00000103999
RefSeq:
NP_001186165.1,
XP_006540500.1,
NP_001186163.1,
NP_115999.2,
NP_001186164.1
|
| Others |
UniRef100:
UniRef100_Q8VIE5,
UniRef100_E9PX29
UniRef90:
UniRef90_E9PX29
UniRef50:
UniRef50_Q9H254
UniGene:
Mm.459123
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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