GPSM2
entrez
29899
canonical
uniprot
P81274
canonical
ensembl
ENSG00000121957
resolver
ensp
ENSP00000264126
resolver
ensp
ENSP00000385510
resolver
ensp
ENSP00000392138
resolver
ensp
ENSP00000496104
resolver
ensp
ENSP00000496756
resolver
ensp
ENSP00000501579
resolver
ensp
ENSP00000502178
resolver
ensp
ENSP00000546587
resolver
ensp
ENSP00000546589
resolver
ensp
ENSP00000546590
resolver
ensp
ENSP00000546591
resolver
ensp
ENSP00000546592
resolver
ensp
ENSP00000612377
resolver
ensp
ENSP00000612378
resolver
ensp
ENSP00000612379
resolver
ensp
ENSP00000612380
resolver
ensp
ENSP00000612381
resolver
ensp
ENSP00000612382
resolver
ensp
ENSP00000674134
resolver
enst
ENST00000264126
resolver
enst
ENST00000406462
resolver
enst
ENST00000446797
resolver
enst
ENST00000642355
resolver
enst
ENST00000645164
resolver
enst
ENST00000676184
resolver
enst
ENST00000876528
resolver
enst
ENST00000876530
resolver
enst
ENST00000876531
resolver
enst
ENST00000876532
resolver
enst
ENST00000876533
resolver
enst
ENST00000942318
resolver
enst
ENST00000942319
resolver
enst
ENST00000942320
resolver
enst
ENST00000942321
resolver
enst
ENST00000942322
resolver
enst
ENST00000942323
resolver
genesymbol
GPSM2
resolver
genesymbol_syn
LGN
resolver
hgnc
HGNC:29501
resolver
uniprot
B4DIF1
resolver
uniprot
Q5T1N8
resolver
uniprot
Q6IBL7
resolver
uniprot
Q8N0Z5
resolver
uniprot_entry
B4DIF1_HUMAN
resolver
uniprot_entry
GPSM2_HUMAN
resolver
uniprot_sec
Q5T1N8
resolver
uniprot_sec
Q6IBL7
resolver
uniprot_sec
Q8N0Z5
resolver
amino_acid_sequence
MEENLISMREDHSFHVRYRMEASCLELALEGERLCKSGDCRAGVSFFEAAVQVGTEDLKTLSAIYSQLGNAYFYLHDYAKALEYHHHDLTLARTIGDQLGEAKASGNLGNTLKVLGNFDEAIVCCQRHLDISRELNDKVGEARALYNLGNVYHAKGKSFGCPGPQDVGEFPEEVRDALQAAVDFYEENLSLVTALGDRAAQGRAFGNLGNTHYLLGNFRDAVIAHEQRLLIAKEFGDKAAERRAYSNLGNAYIFLGEFETASEYYKKTLLLARQLKDRAVEAQSCYSLGNTYTLLQDYEKAIDYHLKHLAIAQELNDRIGEGRACWSLGNAYTALGNHDQAMHFAEKHLEISREVGDKSGELTARLNLSDLQMVLGLSYSTNNSIMSENTEIDSSLNGVRPKLGRRHSMENMELMKLTPEKVQNWNSEILAKQKPLIAKPSAKLLFVNRLKGKKYKTNSSTKVLQDASNSIDHRIPNSQRKISADTIGDEGFFDLLSRFQSNRMDDQRCCLQEKNCHTASTTTSSTPPKMMLKTSSVPVVSPNTDEFLDLLASSQSRRLDDQRASFSNLPGLRLTQNSQSVLSHLMTNDNKEADEDFFDILVKCQGSRLDDQRCAPPPATTKGPTVPDEDFFSLILRSQGKRMDEQRVLLQRDQNRDTDFGLKDFLQNNALLEFKNSGKKSADH
uniprot
proteins
disease_involvement
DISEASE: Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. {ECO:0000269|PubMed:20602914, ECO:0000269|PubMed:22578326}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:11781568, PubMed:15632202, PubMed:21816348). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). Plays a role in metaphase spindle orientation (PubMed:22327364). Also plays an important role in asymmetric cell divisions (PubMed:21816348). Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity). {ECO:0000250|UniProtKB:Q8VDU0, ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22327364}.
uniprot
proteins
mass_dalton
76662
uniprot
proteins
mutagenesis
MUTAGEN 228; /note="R->A: Abolishes location at mitotic spindle poles; when associated with A-243."; /evidence="ECO:0000269|PubMed:21816348"; MUTAGEN 228; /note="R->E: Strongly reduces interaction with INSC. Abolishes interaction with INSC; when associated with R-290."; /evidence="ECO:0000269|PubMed:22074847"; MUTAGEN 243; /note="R->A: Abolishes location at mitotic spindle poles; when associated with A-228."; /evidence="ECO:0000269|PubMed:21816348"; MUTAGEN 290; /note="N->R: Abolishes interaction with INSC; when associated with E-228."; /evidence="ECO:0000269|PubMed:22074847
uniprot
proteins
protein_family
GPSM family
uniprot
proteins
pubmed
11781568
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15632202
uniprot
proteins
pubmed
16458856
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20602914
uniprot
proteins
pubmed
21816348
uniprot
proteins
pubmed
22074847
uniprot
proteins
pubmed
22327364
uniprot
proteins
pubmed
22578326
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25664792
uniprot
proteins
pubmed
26766442
uniprot
proteins
pubmed
27462074
uniprot
proteins
pubmed
8973305
uniprot
proteins
sequence_length
684
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:22074847}. Cytoplasm, cell cortex {ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22074847, ECO:0000269|PubMed:22327364}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:21816348}. Lateral cell membrane {ECO:0000269|PubMed:26766442}. Note=Localizes in the cytoplasm during interphase and at cell cortex during metaphase (PubMed:11781568, PubMed:15632202, PubMed:22074847). Colocalizes with NUMA1 to mitotic spindle poles (PubMed:11781568, PubMed:21816348). Localized at the central and lateral cell cortex regions in a RanGTP-dependent manner (PubMed:22327364). In horizontally retinal progenitor dividing cells, localized to the lateral cortical region. In vertically retinal progenitor dividing cells, localized at the polar cortical region (By similarity). {ECO:0000250|UniProtKB:Q8VDU0, ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:15632202, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22074847, ECO:0000269|PubMed:22327364}.
uniprot
proteins