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51524 TMEM138

51524

TMEM138

transmembrane protein 138

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane protein 138

研究结论

Date Results Publications
2017-05-13 22:07:00 Here we present clinical and molecular characterization of the case of an Emirati boy with Joubert syndrome, probably resulting from a splice-site mutation in TMEM138 28102635
2012-03-17 11:44:00 study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region 22282472

名称对应

Type IDs
Synonymous HSPC196
Gene
UniProtKB-ID: TM138_HUMAN, J3QSZ6_HUMAN
UniprotKB: Q9NPI0, J3QSZ6
UniParc: UPI0000D472A8, UPI000204ADA7, UPI0000037795, UPI00005A71AA
EMBL: AP003108, AF151030, AF151032, AK303219, BC005201, AL832879
Ensembl: ENSG00000149483
KO: hsa:51524
Nucleutide sequences
EMBL-CDS: AAF36116.1, CAI46174.1, AAH05201.1, AAF36118.1, BAG64306.1
Gene_ORFName: HSPC196, HSPC198
Ensembl_TRS: ENST00000278826, ENST00000542946, ENST00000381787
Protein sequencees
Ensembl_PRO: ENSP00000445792, ENSP00000278826, ENSP00000371206
RefSeq: XP_006718648.1, XP_011543400.1, XP_011543402.1, NP_057548.1, XP_011543401.1, XP_016873406.1, XP_006718649.1, NP_001317210.1
Others
UniRef100: UniRef100_Q9NPI0
UniRef90: UniRef90_Q9NPI0
UniRef50: UniRef50_Q9NPI0
UniGene: Hs.406530
CCDS: CCDS8005.1

全选

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