LMAN2L
entrez
81562
canonical
uniprot
Q9H0V9
canonical
ensembl
ENSG00000114988
resolver
ensp
ENSP00000264963
resolver
ensp
ENSP00000366280
resolver
genesymbol
LMAN2L
resolver
genesymbol_syn
VIPL
resolver
hgnc
HGNC:19263
resolver
uniprot
B4DI83
resolver
uniprot
B4DSH3
resolver
uniprot
B4DVH1
resolver
uniprot
B4E308
resolver
uniprot
D3DXH6
resolver
uniprot
Q53GV3
resolver
uniprot
Q53S67
resolver
uniprot
Q63HN6
resolver
uniprot
Q8NBQ6
resolver
uniprot
Q9BQ14
resolver
uniprot_entry
B4DI83_HUMAN
resolver
uniprot_entry
B4DVH1_HUMAN
resolver
uniprot_entry
B4E308_HUMAN
resolver
uniprot_entry
LMA2L_HUMAN
resolver
uniprot_sec
B4DSH3
resolver
uniprot_sec
D3DXH6
resolver
uniprot_sec
Q53GV3
resolver
uniprot_sec
Q53S67
resolver
uniprot_sec
Q63HN6
resolver
uniprot_sec
Q8NBQ6
resolver
uniprot_sec
Q9BQ14
resolver
amino_acid_sequence
MAATLGPLGSWQQWRRCLSARDGSRMLLLLLLLGSGQGPQQVGAGQTFEYLKREHSLSKPYQGVGTGSSSLWNLMGNAMVMTQYIRLTPDMQSKQGALWNRVPCFLRDWELQVHFKIHGQGKKNLHGDGLAIWYTKDRMQPGPVFGNMDKFVGLGVFVDTYPNEEKQQERVFPYISAMVNNGSLSYDHERDGRPTELGGCTAIVRNLHYDTFLVIRYVKRHLTIMMDIDGKHEWRDCIEVPGVRLPRGYYFGTSSITGDLSDNHDVISLKLFELTVERTPEEEKLHRDVFLPSVDNMKLPEMTAPLPPLSGLALFLIVFFSLVFSVFAIVIGIILYNKWQEQSRKRFY
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 52 (MRT52) [MIM:616887]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. {ECO:0000269|PubMed:26566883}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, autosomal dominant 69 (MRD69) [MIM:617863]: An autosomal dominant disorder characterized by developmental delay and variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence. {ECO:0000269|PubMed:31020005}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53. {ECO:0000269|PubMed:12878160}.
uniprot
proteins
mass_dalton
39711
uniprot
proteins
mutagenesis
MUTAGEN 344..346; /note="RKR->SSS: Loss of ER retention."; /evidence="ECO:0000269|PubMed:12609988
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12609988
uniprot
proteins
pubmed
12878160
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26566883
uniprot
proteins
pubmed
31020005
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=Predominantly found in the endoplasmic reticulum. Partly found in the Golgi.
uniprot
proteins
transmembrane_region
TRANSMEM 314..336; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins