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57611 ISLR2

57611

ISLR2

immunoglobulin superfamily containing leucine rich repeat 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition immunoglobulin superfamily containing leucine rich repeat 2

研究结论

Date Results Publications
2019-02-16 11:49:00 Deletion in ISLR2 gene is associated with autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension. 30483960

名称对应

Type IDs
Synonymous LINX
Gene
UniProtKB-ID: ISLR2_HUMAN
UniprotKB: Q6UXK2
UniParc: UPI000004C60F
EMBL: AY358316, AK290467, AB040898
Ensembl: ENSG00000167178
KO: hsa:57611
Nucleutide sequences
EMBL-CDS: AAQ88682.1, BAF83156.1, BAA95989.2
Gene_ORFName: UNQ1885/PRO4329
Ensembl_TRS: ENST00000565540, ENST00000453268, ENST00000435464, ENST00000565159, ENST00000361742
Protein sequencees
Ensembl_PRO: ENSP00000355402, ENSP00000411834, ENSP00000455531, ENSP00000458080, ENSP00000411443
RefSeq: NP_001123610.1, XP_011520142.1, NP_001123609.1, NP_001123608.1, XP_011520143.1, XP_016877935.1, XP_024305776.1, XP_024305773.1, NP_065902.1, XP_024305771.1, XP_024305774.1, XP_024305772.1, XP_024305775.1
Others
UniRef100: UniRef100_Q6UXK2
UniRef90: UniRef90_Q6UXK2
UniRef50: UniRef50_Q5RKR3
UniGene: Hs.254775
CCDS: CCDS10259.1

全选

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