GOSR2
entrez
9570
canonical
uniprot
O14653
canonical
ensembl
ENSG00000108433
resolver
ensp
ENSP00000225567
resolver
ensp
ENSP00000377101
resolver
ensp
ENSP00000461784
resolver
ensp
ENSP00000491253
resolver
ensp
ENSP00000491266
resolver
ensp
ENSP00000491682
resolver
ensp
ENSP00000491785
resolver
ensp
ENSP00000491946
resolver
ensp
ENSP00000491961
resolver
ensp
ENSP00000491979
resolver
ensp
ENSP00000492206
resolver
ensp
ENSP00000492360
resolver
ensp
ENSP00000492524
resolver
ensp
ENSP00000492548
resolver
ensp
ENSP00000492751
resolver
ensp
ENSP00000492830
resolver
ensp
ENSP00000721776
resolver
ensp
ENSP00000721777
resolver
ensp
ENSP00000741406
resolver
ensp
ENSP00000741407
resolver
ensp
ENSP00000741410
resolver
ensp
ENSP00000741411
resolver
enst
ENST00000393456
resolver
enst
ENST00000573224
resolver
enst
ENST00000638189
resolver
enst
ENST00000638216
resolver
enst
ENST00000638634
resolver
enst
ENST00000638838
resolver
enst
ENST00000639365
resolver
enst
ENST00000640068
resolver
enst
ENST00000640443
resolver
enst
ENST00000640608
resolver
genesymbol
GOSR2
resolver
genesymbol_syn
GS27
resolver
hgnc
HGNC:4431
resolver
uniprot
A0A1W2PPP5
resolver
uniprot
A0A1W2PQ77
resolver
uniprot
A0A1W2PQE0
resolver
uniprot
A0A1W2PQM3
resolver
uniprot
A0A1W2PR02
resolver
uniprot
A0A1W2PRC2
resolver
uniprot
A0A1W2PRL0
resolver
uniprot
D3DXJ5
resolver
uniprot
D3DXJ6
resolver
uniprot
I3NI02
resolver
uniprot
Q8N4B8
resolver
uniprot
Q96DA5
resolver
uniprot
Q9BZZ4
resolver
uniprot_entry
A0A1W2PPP5_HUMAN
resolver
uniprot_entry
A0A1W2PQ77_HUMAN
resolver
uniprot_entry
A0A1W2PQE0_HUMAN
resolver
uniprot_entry
A0A1W2PQM3_HUMAN
resolver
uniprot_entry
A0A1W2PR02_HUMAN
resolver
uniprot_entry
A0A1W2PRC2_HUMAN
resolver
uniprot_entry
A0A1W2PRL0_HUMAN
resolver
uniprot_entry
GOSR2_HUMAN
resolver
uniprot_entry
I3NI02_HUMAN
resolver
uniprot_sec
D3DXJ5
resolver
uniprot_sec
D3DXJ6
resolver
uniprot_sec
Q8N4B8
resolver
uniprot_sec
Q96DA5
resolver
uniprot_sec
Q9BZZ4
resolver
amino_acid_sequence
MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. {ECO:0000269|PubMed:21549339, ECO:0000269|PubMed:24458321}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy, congenital, with or without seizures (MYOS) [MIM:620166]: An autosomal recessive muscular dystrophy characterized by hypotonia and elevated serum creatine kinase levels apparent from birth. Patients have progressive muscle weakness, areflexia, and may develop seizures in early childhood or have abnormal epileptiform findings on electroencephalogram studies. {ECO:0000269|PubMed:29855340, ECO:0000269|PubMed:33639315, ECO:0000269|PubMed:34167170}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network. {ECO:0000269|PubMed:9349823}.
uniprot
proteins
mass_dalton
24775
uniprot
proteins
mutagenesis
MUTAGEN 118; /note="I->A: Loss of interaction with SEC24C."; /evidence="ECO:0000269|PubMed:18843296"; MUTAGEN 120; /note="M->A: Loss of interaction with SEC24C."; /evidence="ECO:0000269|PubMed:18843296
uniprot
proteins
protein_family
GOSR2 family
uniprot
proteins
pubmed
10198168
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18843296
uniprot
proteins
pubmed
21549339
uniprot
proteins
pubmed
24458321
uniprot
proteins
pubmed
29855340
uniprot
proteins
pubmed
33639315
uniprot
proteins
pubmed
34167170
uniprot
proteins
pubmed
34779586
uniprot
proteins
pubmed
9349823
uniprot
proteins
sequence_length
212
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:21549339}; Single-pass type IV membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:9349823}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:O35165}. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus. {ECO:0000250|UniProtKB:O35165}.
uniprot
proteins
transmembrane_region
TRANSMEM 191..211; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins