MAB21L2
entrez
10586
canonical
uniprot
Q9Y586
canonical
ensembl
ENSG00000181541
resolver
ensp
ENSP00000324701
resolver
enst
ENST00000317605
resolver
genesymbol
MAB21L2
resolver
hgnc
HGNC:6758
resolver
uniprot
B3KP37
resolver
uniprot
Q9HBA7
resolver
uniprot_entry
MB212_HUMAN
resolver
uniprot_sec
B3KP37
resolver
uniprot_sec
Q9HBA7
resolver
amino_acid_sequence
MIAAQAKLVYQLNKYYTERCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLSEIDARYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITASGYLSARKIRSRFQTLVAQAVDKCSYRDVVKMIADTSEVKLRIRERYVVQITPAFKCTGIWPRSAAQWPMPHIPWPGPNRVAEVKAEGFNLLSKECYSLTGKQSSAESDAWVLQFGEAENRLLMGGCRNKCLSVLKTLRDRHLELPGQPLNNYHMKTLLLYECEKHPRETDWDESCLGDRLNGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALESAAKQTWRLAREILTNPKSLDKL
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) [MIM:615877]: A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. {ECO:0000269|PubMed:24906020, ECO:0000269|PubMed:25719200}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for several aspects of embryonic development including normal development of the eye. {ECO:0000269|PubMed:24906020, ECO:0000269|PubMed:25719200}.
uniprot
proteins
mass_dalton
40923
uniprot
proteins
protein_family
Mab-21 family
uniprot
proteins
pubmed
10556287
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24906020
uniprot
proteins
pubmed
25719200
uniprot
proteins
sequence_length
359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25719200}. Cytoplasm {ECO:0000269|PubMed:25719200}. Note=Predominantly localizes to the nucleus, with some cytoplasmic localization (PubMed:25719200). {ECO:0000269|PubMed:25719200}.
uniprot
proteins