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55714 TENM3

55714

TENM3

teneurin transmembrane protein 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition teneurin transmembrane protein 3

研究结论

Date Results Publications
2019-11-09 10:26:00 novel A to C transversion at position 183721398 on chromosome four found to co-segregate with the affected phenotype of developmental dysplasia of the hip 30273960
2019-03-09 10:59:00 TENM3 missense mutation was identified in a patient with eye abnormalities and intellectual disability. 29753094
2017-10-28 13:28:00 This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene 27103084
2013-04-13 11:04:00 Null mutation in ODZ3 causes autosomal recessive microphthalmia in humans. 22766609
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Synonymous MCOPCB9, ODZ3, TNM3, Ten-m3, ten-3
Gene
UniProtKB-ID: TEN3_HUMAN, A0A140VJW8_HUMAN
UniprotKB: Q9P273, A0A140VJW8
UniParc: UPI00006C0820
EMBL: AK027473, AK001748, AC131943, AC109353, HM005508, AC079226, AC105288, AC093601, AB040888, AY736855, AF195420, AK001336
Ensembl: ENSG00000218336
KO: hsa:55714
Nucleutide sequences
EMBL-CDS: AAU84915.1, BAA91879.1, BAA95979.2, BAA91633.1, AAF28318.1, BAB55138.1, AEE61105.1
Ensembl_TRS: ENST00000511685
Protein sequencees
Ensembl_PRO: ENSP00000424226
RefSeq: XP_016863882.1, XP_016863874.1, XP_016863883.1, NP_001073946.1, XP_016863881.1, XP_016863877.1, XP_016863885.1, XP_016863884.1, XP_016863875.1, XP_016863879.1, XP_016863876.1, XP_016863878.1, XP_016863880.1
Others
UniRef100: UniRef100_Q9P273
UniRef90: UniRef90_Q9WTS6-8
UniRef50: UniRef50_Q9WTS4
UniGene: Hs.130438
CCDS: CCDS47165.1

全选

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