CAMLG
entrez
819
canonical
uniprot
P49069
canonical
ensembl
ENSG00000164615
resolver
ensp
ENSP00000297156
resolver
ensp
ENSP00000560668
resolver
ensp
ENSP00000588657
resolver
enst
ENST00000297156
resolver
enst
ENST00000918598
resolver
genesymbol
CAMLG
resolver
genesymbol_syn
CAML
resolver
genesymbol_syn
GET2
resolver
hgnc
HGNC:1471
resolver
uniprot
A1L3Y3
resolver
uniprot_entry
CAMLG_HUMAN
resolver
uniprot_sec
A1L3Y3
resolver
amino_acid_sequence
MESMAVATDGGERPGVPAGSGLSASQRRAELRRRKLLMNSEQRINRIMGFHRPGSGAEEESQTKSKQQDSDKLNSLSVPSVSKRVVLGDSVSTGTTDQQGGVAEVKGTQLGDKLDSFIKPPECSSDVNLELRQRNRGDLTADSVQRGSRHGLEQYLSRFEEAMKLRKQLISEKPSQEDGNTTEEFDSFRIFRLVGCALLALGVRAFVCKYLSIFAPFLTLQLAYMGLYKYFPKSEKKIKTTVLTAALLLSGIPAEVINRSMDTYSKMGEVFTDLCVYFFTFIFCHELLDYWGSEVP
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2Z (CDG2Z) [MIM:620201]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Z is an autosomal recessive form characterized by a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, CDG2Z is characterized by combined O- and N-linked glycosylation defects. {ECO:0000269|PubMed:35262690}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with GET1/WRB, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol (PubMed:23041287, PubMed:24392163, PubMed:27226539). Required for the stability of GET1 (PubMed:32187542). Stimulates calcium signaling in T cells through its involvement in elevation of intracellular calcium (PubMed:7522304). Essential for the survival of peripheral follicular B cells (By similarity). {ECO:0000250|UniProtKB:P49070, ECO:0000269|PubMed:23041287, ECO:0000269|PubMed:24392163, ECO:0000269|PubMed:27226539, ECO:0000269|PubMed:32187542, ECO:0000269|PubMed:7522304}.
uniprot
proteins
mass_dalton
32953
uniprot
proteins
mutagenesis
MUTAGEN 32..35; /note="RRRK->EEEE: Abolishes binding to GET3."; /evidence="ECO:0000269|PubMed:23041287
uniprot
proteins
pubmed
12388711
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23041287
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24392163
uniprot
proteins
pubmed
27226539
uniprot
proteins
pubmed
31417168
uniprot
proteins
pubmed
32187542
uniprot
proteins
pubmed
32910895
uniprot
proteins
pubmed
35262690
uniprot
proteins
pubmed
7522304
uniprot
proteins
pubmed
9311921
uniprot
proteins
sequence_length
296
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23041287, ECO:0000269|PubMed:31417168}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 190..207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 213..231; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 270..288; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins