Type | Description |
---|---|
Definition | nephronophthisis 3 (adolescent) |
Date | Results | Publications |
---|---|---|
2010-05-10 12:01:00 | Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. | 20169535 |
2010-01-21 00:00:00 | The pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice. | 18371931 |
2010-01-21 00:00:00 | a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype | 12872122 |
Type | IDs |
---|---|
Synonymous | 3632410F03Rik, AI550417, C230078J01, D330020E01Rik, pcy |
Gene |
UniProtKB-ID:
NPHP3_MOUSE
UniprotKB:
Q7TNH6
UniParc:
UPI00001C458E,
UPI0000435A03
EMBL:
AY259499,
AK014393,
AK052281,
AK173327,
AC138739,
AK048877
Ensembl:
ENSMUSG00000032558
KO:
mmu:74025
|
Nucleutide sequences |
EMBL-CDS:
AAP84621.1,
BAB29319.1,
BAC33481.1,
BAD32605.1,
BAC34915.1
Ensembl_TRS:
ENSMUST00000035167
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000035167
RefSeq:
NP_766048.1,
NP_082997.3
|
Others |
UniRef100:
UniRef100_Q7TNH6
UniRef90:
UniRef90_Q7TNH6
UniRef50:
UniRef50_Q7Z494
UniGene:
Mm.479273
CCDS:
CCDS40749.1
|
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