Human
CELSR3 - Cadherin EGF LAG Seven-pass G-type Receptor 3
Alias:
FMI1
EGFL1
HFMI1
MEGF2
ADGRC3
CDHF11
RESDA1
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1
35
26424 bp
358.19
179
--
5
7
CELSR3 Genetics information (-)
GRCh38
Chr 3: 48636463 - 48662886
Adjacent gene of CELSR3:6
Sequence Homology
Gene Length
Human
Chr 3
26424 bp
Mouse
Chr 9
26925 bp
Rat
Chr 8
27764 bp
Exon Count
Human
NM_001407.3
35
Mouse
NM_001359572.1
35
Rat
NM_031320.1
35
Transcript Length
Human
NM_001407.3
11933 bp
Mouse
NM_001359572.1
11846 bp
Rat
NM_031320.1
11868 bp
homology
Sequence Alignment
Human
NM_001407.3
100%
Mouse
NM_001359572.1
86.5%
Rat
NM_031320.1
86.3%
Protein Length
Human
NP_001398.2
3312 aa
Mouse
NP_001346501.1
3309 aa
Rat
NP_112610.1
3313 aa
Protein homology
Sequence Alignment
Human
NP_001398.2
100%
Mouse
NP_001346501.1
92.1%
Rat
NP_112610.1
91.7%
Related Diseases and Mutations
This section is currently in development, please stay tuned for our data updates.
Transcripts & Proteins
There are 1 transcripts and 1 protein isoforms for CELSR3 gene.
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
1
11933
35
9939
NP_001398.2
3312
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Nervous system
Endocrine & Immune system
Respiratory & Circulatory system
Digestive system
Urinary & Reproductive system
Other systems
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Brain
Endothelial
Eye
Female reproductive system
Gastrointestinal tract
Kidney & Urinary bladder
Liver & Gallbladder
Lung
Lymphoid
Male reproductive system
Mesenchymal
Myeloid
Proximal digestive tract
Skin
Interactions
There is currently no available transcript or protein sequence found to be associated with the gene.
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Gene editing
--
C57BL/6JCya
--
Gene editing
129P2/OlaHsd
22
Gene editing
129P2/OlaHsd
21
Gene editing
129S1/Sv or 129X1/SvJ or 129S6/SvEvTac or C57BL/6NCr
5
Gene editing
C57BL/6NTac
--
5 Results, 10 per Page
1
Related Drugs
This section is currently in development, please stay tuned for our data updates.
References Literature
Numbers
Title
PMID
Journal
Year
IF
The DNA sequence, annotation and analysis of human chromosome 3.
Nature
2006
64.8
Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes.
Proceedings of the National Academy of Sciences of the United States of America
2000
11.1
A quantitative atlas of mitotic phosphorylation.
Proceedings of the National Academy of Sciences of the United States of America
2008
11.1
Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening.
Genomics
1998
4.4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
Journal of medical genetics
2013
4
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
PloS one
2013
3.7
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.
Case reports in genetics
2018
--
7 Results, 10 per Page
1
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Sources
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