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22798 LAMB4

22798

LAMB4

laminin subunit beta 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition laminin subunit beta 4

研究结论

Date Results Publications
2018-01-20 11:10:00 We identified a rare single nucleotide variant in the laminin beta 4 gene (LAMB4) that segregated with familial diverticulitis in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene. 28595269
2015-04-18 11:18:00 Loss of LAMB4 expression was identified in 17-32% of the GC and CRC. Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H. 25257191
2009-05-17 21:32:00 Observational study of gene-disease association. (HuGE Navigator) 19401682

名称对应

Type IDs
Gene
UniProtKB-ID: LAMB4_HUMAN, O95127_HUMAN, B7ZMJ6_HUMAN, C9JMJ0_HUMAN, B4DTV7_HUMAN
UniprotKB: A4D0S4, O95127, B7ZMJ6, C9JMJ0, B4DTV7
UniParc: UPI00020657FC, UPI0000198CD5, UPI00017A7EDF, UPI00015657DB, UPI00015F45F3, UPI000191706E, UPI00000734F0
EMBL: AC005048, AF029325, AF028816, BC140804, AK300385, BC045172, BC144591, AK075165, BC142619, CH236947
Ensembl: ENSG00000091128
KO: hsa:22798
Nucleutide sequences
EMBL-CDS: AAH45172.2, AAI40805.1, AAC95123.1, AAI42620.1, EAL24387.1, AAC95124.1, AAI44592.1, BAG62119.1
Ensembl_TRS: ENST00000388781, ENST00000205386, ENST00000418464
Protein sequencees
Ensembl_PRO: ENSP00000373433, ENSP00000205386, ENSP00000402353
RefSeq: NP_001304977.1, XP_011514280.1, NP_001304976.1, NP_001304975.1, XP_011514282.1, NP_031382.2, XP_011514277.1, XP_016867369.1, XP_016867368.1, XP_011514281.1
Others
UniRef100: UniRef100_B4DTV7, UniRef100_C9JMJ0, UniRef100_A4D0S4, UniRef100_B7ZMJ6
UniRef90: UniRef90_C9JMJ0, UniRef90_B4DTV7, UniRef90_A4D0S4
UniRef50: UniRef50_A4D0S4-2, UniRef50_A0A670J476, UniRef50_A4D0S4
UniGene: Hs.62022
CCDS: CCDS83218.1, CCDS34732.1

全选

研究热度
该基因近6年没有文献发表
热点单位
排名 科研单位 文献
1

Athersys, Inc., 3201 Carnegie Ave., Cleveland, OH 44115, USA. jharrington@athersys.com

1
2

University of Regina

1
3

Institute for Cellular and Molecular Biology

1
4

Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

1
5

University of Toronto

1
热点人员
排名 研究人员 文献
1

R Mays

1
2

M Ducar

1
3

L Lerner

1
4

R Ramachandran

1
5

J J Harrington

1
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