CADM3
entrez
57863
canonical
uniprot
Q8N126
canonical
ensembl
ENSG00000162706
resolver
ensp
ENSP00000357106
resolver
ensp
ENSP00000357107
resolver
ensp
ENSP00000580686
resolver
ensp
ENSP00000580688
resolver
genesymbol
CADM3
resolver
genesymbol_syn
IGSF4B
resolver
genesymbol_syn
NECL1
resolver
genesymbol_syn
SYNCAM3
resolver
genesymbol_syn
TSLL1
resolver
hgnc
HGNC:17601
resolver
uniprot
Q8IZQ9
resolver
uniprot
Q9NVJ5
resolver
uniprot
Q9UJP1
resolver
uniprot_entry
CADM3_HUMAN
resolver
uniprot_sec
Q8IZQ9
resolver
uniprot_sec
Q9NVJ5
resolver
uniprot_sec
Q9UJP1
resolver
amino_acid_sequence
MGAPAASLLLLLLLFACCWAPGGANLSQDDSQPWTSDETVVAGGTVVLKCQVKDHEDSSLQWSNPAQQTLYFGEKRALRDNRIQLVTSTPHELSISISNVALADEGEYTCSIFTMPVRTAKSLVTVLGIPQKPIITGYKSSLREKDTATLNCQSSGSKPAARLTWRKGDQELHGEPTRIQEDPNGKTFTVSSSVTFQVTREDDGASIVCSVNHESLKGADRSTSQRIEVLYTPTAMIRPDPPHPREGQKLLLHCEGRGNPVPQQYLWEKEGSVPPLKMTQESALIFPFLNKSDSGTYGCTATSNMGSYKAYYTLNVNDPSPVPSSSSTYHAIIGGIVAFIVFLLLIMLIFLGHYLIRHKGTYLTHEAKGSDDAPDADTAIINAEGGQSGGDDKKEYFI
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, axonal, type 2FF (CMT2FF) [MIM:619519]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2FF is characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs. {ECO:0000269|PubMed:33889941, ECO:0000269|PubMed:38074074}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 or function of cell-cell junctions (By similarity). {ECO:0000250|UniProtKB:Q99N28}.
uniprot
proteins
mass_dalton
43300
uniprot
proteins
protein_family
Nectin family
uniprot
proteins
pubmed
11536053
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15893517
uniprot
proteins
pubmed
16467305
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18420026
uniprot
proteins
pubmed
33889941
uniprot
proteins
pubmed
34037698
uniprot
proteins
pubmed
38074074
uniprot
proteins
sequence_length
398
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:38074074}; Single-pass type I membrane protein {ECO:0000255}. Cell junction {ECO:0000269|PubMed:38074074}.
uniprot
proteins
transmembrane_region
TRANSMEM 331..351; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins