JAM2
entrez
58494
canonical
uniprot
P57087
canonical
ensembl
ENSG00000154721
resolver
ensp
ENSP00000318416
resolver
ensp
ENSP00000383376
resolver
ensp
ENSP00000420419
resolver
genesymbol
JAM2
resolver
genesymbol_syn
C21orf43
resolver
genesymbol_syn
VEJAM
resolver
hgnc
HGNC:14686
resolver
uniprot
B2R6T9
resolver
uniprot
B4DGT9
resolver
uniprot
Q6UXG6
resolver
uniprot
Q6YNC1
resolver
uniprot_entry
JAM2_HUMAN
resolver
uniprot_sec
B2R6T9
resolver
uniprot_sec
B4DGT9
resolver
uniprot_sec
Q6UXG6
resolver
uniprot_sec
Q6YNC1
resolver
amino_acid_sequence
MARRSRHRLLLLLLRYLVVALGYHKAYGFSAPKDQQVVTAVEYQEAILACKTPKKTVSSRLEWKKLGRSVSFVYYQQTLQGDFKNRAEMIDFNIRIKNVTRSDAGKYRCEVSAPSEQGQNLEEDTVTLEVLVAPAVPSCEVPSSALSGTVVELRCQDKEGNPAPEYTWFKDGIRLLENPRLGSQSTNSSYTMNTKTGTLQFNTVSKLDTGEYSCEARNSVGYRRCPGKRMQVDDLNISGIIAAVVVVALVISVCGLGVCYAQRKGYFSKETSFQKSNSSSKATTMSENDFKHTKSFII
uniprot
proteins
disease_involvement
DISEASE: Basal ganglia calcification, idiopathic, 8, autosomal recessive (IBGC8) [MIM:618824]: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269|PubMed:31851307, ECO:0000269|PubMed:32142645}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM3 to regulate different cellular processes (PubMed:11590146, PubMed:11823489, PubMed:24357068). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow (PubMed:24357068). At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating not only transmigration but also tethering and rolling of leukocytes along the endothelium (PubMed:12239159). Tethering and rolling of leukocytes are dependent on the binding by JAM2 of the integrin alpha-4/beta-1 (PubMed:12070135). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as an inhibitory somatodendritic cue that prevents the myelination of non-axonal parts of neurons (By similarity). During myogenesis, it is involved in myocyte fusion (By similarity). May also play a role in angiogenesis (By similarity). {ECO:0000250|UniProtKB:A0A0R4IGV4, ECO:0000250|UniProtKB:Q9JI59, ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:11823489, ECO:0000269|PubMed:12070135, ECO:0000269|PubMed:12239159, ECO:0000269|PubMed:24357068}.
uniprot
proteins
mass_dalton
33207
uniprot
proteins
mutagenesis
MUTAGEN 82; /note="D->A: No effect on binding of JAM3 or integrin."; /evidence="ECO:0000269|PubMed:12070135
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
pubmed
10779521
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
10945976
uniprot
proteins
pubmed
11590146
uniprot
proteins
pubmed
11823489
uniprot
proteins
pubmed
12036298
uniprot
proteins
pubmed
12070135
uniprot
proteins
pubmed
12239159
uniprot
proteins
pubmed
12810109
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
24357068
uniprot
proteins
pubmed
31851307
uniprot
proteins
pubmed
32142645
uniprot
proteins
sequence_length
298
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10779521, ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:31851307}; Single-pass type I membrane protein {ECO:0000269|PubMed:10779521, ECO:0000269|PubMed:11590146}. Cell junction {ECO:0000269|PubMed:10779521, ECO:0000269|PubMed:10945976}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q9JI59}. Note=Localized at tight junctions of both epithelial and endothelial cells (By similarity). Specifically localized within the somatodendritic compartment of neurons and excluded from the axon (By similarity). {ECO:0000250|UniProtKB:Q9JI59}.
uniprot
proteins
transmembrane_region
TRANSMEM 239..259; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins