Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57863
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Cell adhesion molecule 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CADM3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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BIgR, CMT2FF, IGSF4B, NECL1, Necl-1, TSLL1, synCAM3 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
CMT2FF |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q23.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is re |
UniProt ID |
Q8N126
|
Protein name |
Cell adhesion molecule 3 (Brain immunoglobulin receptor) (Immunoglobulin superfamily member 4B) (IgSF4B) (Nectin-like protein 1) (NECL-1) (Synaptic cell adhesion molecule 3) (SynCAM3) (TSLC1-like protein 1) (TSLL1) |
Protein function |
Involved in cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure |
PDB |
1Z9M
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07686
|
V-set |
35 → 127 |
Immunoglobulin V-set domain |
Domain |
PF08205
|
C2-set_2 |
133 → 220 |
CD80-like C2-set immunoglobulin domain |
Domain |
PF13927
|
Ig_3 |
232 → 303 |
|
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Isoform 1 is expressed mainly in adult and fetal brain. Isoform 2 is highly expressed in adult brain and weakly expressed in placenta. In brain, Isoform 2 is highly expressed in cerebellum. {ECO:0000269|PubMed:11536053, ECO:0000269|Pub |
Sequence |
|
Sequence length |
398 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
31374203 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth disease, axonal, type 2FF |
|
|
GenCC |
Asthma |
Asthma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Amyotrophic Lateral Sclerosis |
Associate
|
26401960 |
Arthritis |
Associate
|
30770760 |
Charcot Marie Tooth Disease |
Associate
|
33889941 |
Charcot Marie Tooth disease Type 2B |
Associate
|
33889941 |
Colorectal Neoplasms |
Associate
|
34497681, 37446311 |
Craniocerebral Trauma |
Stimulate
|
34969957 |
Neoplasms |
Inhibit
|
21062931 |
Neoplasms |
Stimulate
|
34969957 |
Pain |
Associate
|
30770760 |
Prostatic Neoplasms |
Associate
|
21062931 |
|