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74025 Nphp3

74025

Nphp3

nephronophthisis 3 (adolescent)

protein-coding

Mus musculus

基因描述

Type Description
Definition nephronophthisis 3 (adolescent)

研究结论

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

名称对应

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

全选

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研究热度

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