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148738 HJV

148738

HJV

hemojuvelin BMP co-receptor

protein-coding

Homo sapiens

基因描述

Type Description
Definition hemojuvelin BMP co-receptor

研究结论

Date Results Publications
2021-01-09 13:30:00 The functional role of hemojuvelin in acute ischemic stroke. 31307288
2020-06-27 11:40:00 HJV was significantly downregulated in the muscles of Duchenne muscular dystrophy patients as well as in those of aged humans. 30884219
2019-12-21 11:28:00 Compound heterozygous mutations of HJV or combined heterozygous mutations of BMP/SMAD pathway genes, marked by HJV variants in the signal peptide region, may represent a novel aetiological factor for Hereditary haemochromatosis (HH). 30166352
2019-05-04 10:24:00 mild phenotype and late onset are possible in HJV hemochromatosis 30389309
2018-12-22 12:13:00 Urinary HJV differentiated patients with/without acute kidney injury (AKI), advanced AKI or composite outcome after surgery. 29386545

名称对应

Type IDs
Synonymous HFE2, HFE2A, JH, RGMC
Gene
UniProtKB-ID: RGMC_HUMAN, A8K466_HUMAN, A0A024R4F5_HUMAN
UniprotKB: Q6ZVN8, A8K466, A0A024R4F5
UniParc: UPI0000073BA6, UPI000013EB58, UPI0000247053
EMBL: AL355505, CH471244, BC017926, AK092682, AK124273, AK092692, BC085604, AK290831, AY372521, AK096905, AK315852, DQ309445, AL138842
Ensembl: ENSG00000168509
KO: hsa:148738
Nucleutide sequences
EMBL-CDS: AAR22390.1, EAW71408.1, BAC85823.1, BAC03947.1, CAI22091.1, CAI22349.1, ABC40718.1, BAC03944.1, AAH17926.1, AAH85604.1, BAC04890.1, BAF98743.1, BAF83520.1, CAI22092.1, CAI22350.1, EAW71409.1
Gene_ORFName: RP4-679C16.1-002, hCG_37375
Ensembl_TRS: ENST00000475797, ENST00000497365, ENST00000336751, ENST00000636675, ENST00000357836
Protein sequencees
Ensembl_PRO: ENSP00000425716, ENSP00000337014, ENSP00000350495, ENSP00000421820, ENSP00000490072
RefSeq: NP_998818.1, NP_001366281.1, NP_998817.1, NP_001303696.1, NP_973733.1, NP_660320.3
Others
UniRef100: UniRef100_Q6ZVN8
UniRef90: UniRef90_Q6ZVN8
UniRef50: UniRef50_Q6ZVN8
UniGene: Hs.632436
CCDS: CCDS72877.1, CCDS72878.1, CCDS72879.1

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