Log In|Sign Up
中文人类
GSC2 - Goosecoid Homeobox 2
Alias:
GSCL
Favorite
鹅coid样(GSCL)，一个含有homeodomain的基因，位于22q11上的VCFS/DGS的关键区域。Velocardiofacial综合症(VCFS)是一种发育紊乱，以冠状穿孔心脏缺陷、颅面异常和学习障碍为特征。VCFS在表型上与DiGeorge综合症(DGS)有关，这两种综合症都与22q11的半合缺失有关。由于VCFS/DGS中受影响的许多组织和结构来自发育中的胚胎的咽弓，因此认为涉及胚胎发育的基因的单倍不足可能是其病因。该基因在有限的成年组织中表达，也在早期人类发育中表达。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GSC2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
