| Type | Description |
|---|---|
| Definition | NHL repeat containing 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-06 12:01:00 | Study identified a novel cerebropulmonary and multi-organ disease characterised by a unique combination of tissue fibrosis, neurodegeneration and cerebral angiomatosis, and identified identical compound heterozygous NHLRC2 variants in three affected children from two unrelated families. Also created a KO mouse model and zebrafish morphants to investigate the consequences of absent or decreased Nhlrc2 expression. | 29423877 |
| 2019-05-11 11:42:00 | We conclude that compound heterozygous p.Asp148Tyr and p.Arg201GlyfsTer6 mutations in NHLRC2 lead to severe tissue fibrosis in humans by enhancing the differentiation of fibroblasts to myofibroblasts. | 30239752 |
| 2019-02-09 10:51:00 | Bioinformatics analysis discovers homologs across a range of eukaryotic and prokaryotic species and conserved residues map mostly to the adjacent surfaces of the Trx-like and beta-propeller domains that form the cleft, suggesting both that this forms the potential functional site of NHLRC2 and that the function is conserved across species. | 30138417 |
| 2018-07-28 12:19:00 | Reactive oxygen species-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cells. | 29242562 |
| 2009-12-02 21:41:00 | Observational study of gene-disease association. (HuGE Navigator) | 16385451 |
| Type | IDs |
|---|---|
| Synonymous | FINCA |
| Gene |
UniProtKB-ID:
NHLC2_HUMAN,
Q7Z658_HUMAN
UniprotKB:
Q8NBF2,
Q7Z658
UniParc:
UPI0000071EAF,
UPI00001A9DE4,
UPI000006ED93
EMBL:
AL592546,
AK098487,
AL627429,
BX538287,
BC032598,
AK090631,
AL162407
Ensembl:
ENSG00000196865
KO:
hsa:374354
|
| Nucleutide sequences |
EMBL-CDS:
BAC05316.1,
BAC03493.1,
AAH32598.1,
CAD98082.1
Ensembl_TRS:
ENST00000369301
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358307
RefSeq:
XP_011538071.1,
NP_940916.2
|
| Others |
UniRef100:
UniRef100_Q7Z658,
UniRef100_Q8NBF2
UniRef90:
UniRef90_Q7Z658,
UniRef90_Q8NBF2
UniRef50:
UniRef50_Q8NBF2,
UniRef50_Q7Z658
UniGene:
Hs.369924,
Hs.594372
CCDS:
CCDS7585.1
|
| {{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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