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1954 MEGF8

1954

MEGF8

multiple EGF like domains 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition multiple EGF like domains 8

研究结论

Date Results Publications
2013-01-26 10:21:00 mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. 23063620

名称对应

Type IDs
Synonymous C19orf49, CRPT2, EGFL4, SBP1
Gene
UniProtKB-ID: MEGF8_HUMAN
UniprotKB: Q7Z7M0
UniParc: UPI00003CF1A7, UPI00005788D1
EMBL: AB011541, BC153880, AY280362, AC011497, AC024078
Ensembl: ENSG00000105429
KO: hsa:1954
Nucleutide sequences
EMBL-CDS: AAI53881.1, AAP35084.1, BAA32469.2
Ensembl_TRS: ENST00000251268, ENST00000334370
Protein sequencees
Ensembl_PRO: ENSP00000251268, ENSP00000334219
RefSeq: NP_001258867.1, NP_001401.2
Others
UniRef100: UniRef100_Q7Z7M0
UniRef90: UniRef90_Q7Z7M0
UniRef50: UniRef50_Q7Z7M0
UniGene: Hs.132483
CCDS: CCDS62693.1, CCDS12604.2

全选

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