EXOC3L2
entrez
90332
canonical
uniprot
Q2M3D2
canonical
ensembl
ENSG00000283632
resolver
ensp
ENSP00000400713
resolver
ensp
ENSP00000527257
resolver
enst
ENST00000413988
resolver
enst
ENST00000857198
resolver
genesymbol
EXOC3L2
resolver
genesymbol_syn
XTP7
resolver
hgnc
HGNC:30162
resolver
uniprot
A0A1C7CYX0
resolver
uniprot
Q8N9W2
resolver
uniprot
Q96GV2
resolver
uniprot_entry
EX3L2_HUMAN
resolver
uniprot_sec
A0A1C7CYX0
resolver
uniprot_sec
Q8N9W2
resolver
uniprot_sec
Q96GV2
resolver
amino_acid_sequence
MPILKNLGVSDPKVPRAGTLPLRSSRNPFEEVSGLEEEEAGELGSLPNGTSCRRRATLEKLAGLAPFRLGWAPGRRAGSPGDGQPRSFLGRVLVPGIRRSSADFGLLARLHGTRAHGDEEAAGEAARRLAFLRLGRGSKPQRASLAERVVPAGEAAPEPPPKVPEPPKMKEPLSVLEILSLIQQRELARADEHILELEAEELAPSRGGAPGPPKAEGAGGGRRARDVALLYEALQRELWALVRETLAGPGPGACAGAGAVAQLGQVLVQEEAADGRRGPGAARKLRARWAEAVARAARERLEAAAPGAPGGLAGQLEALRARLLEDMAVVRGRLAPAYPAGLGAFGVYLRGYHGALAEWLGASARRRLPLADRYALLHWHNQVYPREVLGLVDMAALENGELGPLLSPGTLRGLEDECVTDVKAQTRAALLRVLQEDEEHWGSLEDQPSSLAQDVCELLEEHTERAPRISQEFGERMAHCCLGGLAEFLQSFQQRVERFHENPAVREMLPDTYISKTIALVNCGPPLRALAERLARVGPPESEPAREASASALDHVTRLCHRVVANLLFQELQPHFNKLMRRKWLSSPEALDGIVGTLGAQALALRRMQDEPYQALVAELHRRALVEYVRPLLRGRLRCSSARTRSRVAGRLREDAAQLQRLFRRLESQASWLDAVVPHLAEVMQLEDTPSIQVEVGVLVRDYPDIRQKHVAALLDIRGLRNTAARQEILAVARDLELSEEGALSPPRDRAFFADIPVPRPSFCLSLPLFLGRLPLSRLARPSLACLPRPRPPSLARPRAQR
uniprot
proteins
disease_involvement
DISEASE: Brain malformation renal syndrome (BMRS) [MIM:620943]: An autosomal recessive syndrome characterized by brain abnormalities, Dandy-Walker malformation, and renal dysplasia. Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. {ECO:0000269|PubMed:27894351, ECO:0000269|PubMed:28749478, ECO:0000269|PubMed:30327448, ECO:0000269|PubMed:34974531}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
87480
uniprot
proteins
protein_family
SEC6 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27894351
uniprot
proteins
pubmed
28749478
uniprot
proteins
pubmed
30327448
uniprot
proteins
pubmed
34974531
uniprot
proteins
sequence_length
802
uniprot
proteins