| Type | Description |
|---|---|
| Definition | spectrin beta, non-erythrocytic 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-02 11:06:00 | Study revealed that betaIII spectrin was weakly stained or lost in most poorly differentiated hepatocellular carcinoma (HCC) cases but retained moderate to strong stain in most cholangiocarcinoma (CC) cases. These findings suggest, for the first time, that betaIII spectrins could be helpful in differentiating poorly differentiated HCC from CC. | 30798076 |
| 2019-07-27 13:29:00 | Study reviews the previously reported SPTBN2 mutations and cases. Moreover, the novel homozygous missense variant (c.1572C>T; p.R414C) in two brothers adds up to the literature for the infantile-onset form of autosomal recessive ataxia associated with SPTBN2. | 29196973 |
| 2019-01-19 11:02:00 | High SPTBN2 expression is associated with malignant peripheral nerve sheath tumors. | 29596596 |
| 2018-10-20 11:17:00 | the proposed methodology is validated against betaII-spectrin protein, a brain injury validated biomarker | 28112201 |
| 2018-09-22 10:16:00 | SCA5 missense mutation found in the spinocerebellar ataxia type 5 perturbs a closed-open structural equilibrium in the SCA5-actin-binding domain by lowering the energetic barrier between structural states. | 29116080 |
| Type | IDs |
|---|---|
| Synonymous | GTRAP41, SCA5, SCAR14 |
| Gene |
UniProtKB-ID:
SPTN2_HUMAN
UniprotKB:
O15020
UniParc:
UPI00003667EF,
UPI000013EF83
EMBL:
AF079569,
AF026487,
AP001157,
AF026488,
AB008567
Ensembl:
ENSG00000173898
KO:
hsa:6712
|
| Nucleutide sequences |
EMBL-CDS:
AAC80006.1,
AAC79502.1,
AAC79504.1,
AAC79503.1,
BAA32700.2
Ensembl_TRS:
ENST00000309996,
ENST00000529997,
ENST00000533211
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000432568,
ENSP00000433593,
ENSP00000311489
RefSeq:
XP_011543518.1,
XP_006718732.1,
XP_006718734.1,
XP_005274250.1,
XP_016873667.1,
XP_011543519.1,
NP_008877.2,
XP_016873666.1,
XP_016873663.1,
XP_016873665.1,
XP_016873664.1
|
| Others |
UniRef100:
UniRef100_O15020
UniRef90:
UniRef90_O15020
UniRef50:
UniRef50_O15020
UniGene:
Hs.26915
CCDS:
CCDS8150.1
|
| {{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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