MPZL2
entrez
10205
canonical
uniprot
O60487
canonical
ensembl
ENSG00000149573
resolver
ensp
ENSP00000278937
resolver
ensp
ENSP00000408362
resolver
ensp
ENSP00000557174
resolver
ensp
ENSP00000557175
resolver
ensp
ENSP00000781797
resolver
enst
ENST00000278937
resolver
enst
ENST00000438295
resolver
enst
ENST00000887115
resolver
enst
ENST00000887116
resolver
genesymbol
MPZL2
resolver
genesymbol_syn
EVA
resolver
genesymbol_syn
EVA1
resolver
hgnc
HGNC:3496
resolver
uniprot
A8K2R1
resolver
uniprot_entry
MPZL2_HUMAN
resolver
uniprot_sec
A8K2R1
resolver
amino_acid_sequence
MYGKSSTRAVLLLLGIQLTALWPIAAVEIYTSRVLEAVNGTDARLKCTFSSFAPVGDALTVTWNFRPLDGGPEQFVFYYHIDPFQPMSGRFKDRVSWDGNPERYDASILLWKLQFDDNGTYTCQVKNPPDVDGVIGEIRLSVVHTVRFSEIHFLALAIGSACALMIIIVIVVVLFQHYRKKRWAERAHKVVEIKSKEEERLNQEKKVSVYLEDTD
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 111 (DFNB111) [MIM:618145]: A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:29961571, ECO:0000269|PubMed:29982980, ECO:0000269|PubMed:37390746, ECO:0000269|PubMed:38197511}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates homophilic cell-cell adhesion.
uniprot
proteins
mass_dalton
24484
uniprot
proteins
protein_family
Myelin P0 protein family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
29961571
uniprot
proteins
pubmed
29982980
uniprot
proteins
pubmed
37390746
uniprot
proteins
pubmed
38197511
uniprot
proteins
pubmed
9585423
uniprot
proteins
sequence_length
215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 155..175; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins