Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29899
Gene name	G protein signaling modulator 2
Gene symbol	GPSM2
Synonyms (NCBI Gene)	CMCSDFNB82LGNPINS
Chromosome	1
Chromosome location	1p13.3
Summary	The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein conta

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79730689	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs145191476	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs184863735	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267606854	C>T	Pathogenic	Coding sequence variant, stop gained
rs367682612	C>T	Pathogenic	Coding sequence variant, stop gained
rs370907055	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs387907010	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs528069912	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs727505300	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs750981446	AAGT>-	Pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant, intron variant
rs755804651	C>A	Pathogenic	Coding sequence variant, missense variant
rs766556930	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs772372530	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs773068151	G>T	Pathogenic	Splice acceptor variant
rs777695770	G>T	Pathogenic	Splice donor variant
rs1060499797	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553215684	C>T	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs1553216524	TGCCATAC>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1570936325	->TGTAC	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002524	hsa-miR-373-3p	Microarray	15685193
MIRT002524	hsa-miR-373-3p	Microarray;Other	15685193
MIRT024301	hsa-miR-215-5p	Microarray	19074876
MIRT026240	hsa-miR-192-5p	Microarray	19074876
MIRT709231	hsa-miR-3660	HITS-CLIP	19536157
MIRT709230	hsa-miR-4526	HITS-CLIP	19536157
MIRT709229	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT709228	hsa-miR-378a-5p	HITS-CLIP	19536157
MIRT709227	hsa-miR-569	HITS-CLIP	19536157
MIRT709226	hsa-miR-323a-3p	HITS-CLIP	19536157
MIRT709225	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT709224	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT709223	hsa-miR-4704-3p	HITS-CLIP	19536157
MIRT709222	hsa-miR-4474-5p	HITS-CLIP	19536157
MIRT609894	hsa-miR-32-3p	HITS-CLIP	23824327
MIRT609893	hsa-miR-5687	HITS-CLIP	23824327
MIRT709231	hsa-miR-3660	HITS-CLIP	19536157
MIRT709230	hsa-miR-4526	HITS-CLIP	19536157
MIRT709229	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT709228	hsa-miR-378a-5p	HITS-CLIP	19536157
MIRT709227	hsa-miR-569	HITS-CLIP	19536157
MIRT709226	hsa-miR-323a-3p	HITS-CLIP	19536157
MIRT709225	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT709224	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT709223	hsa-miR-4704-3p	HITS-CLIP	19536157
MIRT709222	hsa-miR-4474-5p	HITS-CLIP	19536157
MIRT609894	hsa-miR-32-3p	HITS-CLIP	23824327
MIRT609893	hsa-miR-5687	HITS-CLIP	23824327
MIRT1032405	hsa-miR-1260	CLIP-seq
MIRT1032406	hsa-miR-1260b	CLIP-seq
MIRT1032407	hsa-miR-188-3p	CLIP-seq
MIRT1032408	hsa-miR-3156-3p	CLIP-seq
MIRT1032409	hsa-miR-4301	CLIP-seq
MIRT2238696	hsa-miR-155	CLIP-seq
MIRT2238697	hsa-miR-216a	CLIP-seq
MIRT2238698	hsa-miR-216b	CLIP-seq
MIRT2238699	hsa-miR-22	CLIP-seq
MIRT2238700	hsa-miR-3133	CLIP-seq
MIRT2238701	hsa-miR-342-3p	CLIP-seq
MIRT2238702	hsa-miR-34b	CLIP-seq
MIRT2238703	hsa-miR-365	CLIP-seq
MIRT2238704	hsa-miR-4457	CLIP-seq
MIRT2238705	hsa-miR-4724-5p	CLIP-seq
MIRT2238706	hsa-miR-4733-5p	CLIP-seq
MIRT2238707	hsa-miR-493	CLIP-seq
MIRT2238708	hsa-miR-513b	CLIP-seq
MIRT2238709	hsa-miR-532-5p	CLIP-seq
MIRT2238710	hsa-miR-633	CLIP-seq
MIRT2465402	hsa-miR-198	CLIP-seq
MIRT2465403	hsa-miR-3919	CLIP-seq
MIRT2465404	hsa-miR-3939	CLIP-seq
MIRT2465405	hsa-miR-520a-5p	CLIP-seq
MIRT2465406	hsa-miR-523	CLIP-seq
MIRT2465407	hsa-miR-525-5p	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	22327364, 23870127
GO:0000166	Function	Nucleotide binding	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IBA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0005092	Function	GDP-dissociation inhibitor activity	IBA
GO:0005092	Function	GDP-dissociation inhibitor activity	IEA
GO:0005092	Function	GDP-dissociation inhibitor activity	ISS
GO:0005515	Function	Protein binding	IPI	11781568, 12445386, 15537540, 15632202, 16458856, 21816348, 22074847, 22327364, 26766442, 27462074, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IDA	11781568
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IBA
GO:0005938	Component	Cell cortex	IDA	21816348, 23027904, 23783028, 23870127
GO:0005938	Component	Cell cortex	IEA
GO:0005938	Component	Cell cortex	IMP	22074847
GO:0007052	Process	Mitotic spindle organization	IMP	21816348
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8973305
GO:0009642	Process	Response to light intensity	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019904	Function	Protein domain specific binding	IPI	22074847
GO:0030695	Function	GTPase regulator activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	16458856
GO:0032991	Component	Protein-containing complex	IMP	22074847
GO:0042802	Function	Identical protein binding	IPI	15537540
GO:0051301	Process	Cell division	IEA
GO:0051661	Process	Maintenance of centrosome location	IMP	21816348
GO:0060236	Process	Regulation of mitotic spindle organization	IMP	23027904
GO:0070840	Function	Dynein complex binding	IDA	22327364
GO:0097431	Component	Mitotic spindle pole	IDA	21816348
GO:0097431	Component	Mitotic spindle pole	IDA	11781568
GO:0097575	Component	Lateral cell cortex	IDA	26766442
GO:0097575	Component	Lateral cell cortex	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0099738	Component	Cell cortex region	IDA	22327364
GO:1904778	Process	Positive regulation of protein localization to cell cortex	IMP	22327364, 23027904, 23870127
GO:1905832	Process	Positive regulation of spindle assembly	IMP	11781568

MIM	HGNC	e!Ensembl
609245	29501	ENSG00000121957

P81274

Protein name

G-protein-signaling modulator 2 (Mosaic protein LGN)

Protein 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

PDB

3SF4 , 4WND , 4WNE , 4WNF , 4WNG , 5A6C , 6HC2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13176	TPR_7	64 → 99	Tetratricopeptide repeat	Repeat
PF13176	TPR_7	204 → 239	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	322 → 355	Tetratricopeptide repeat	Repeat
PF02188	GoLoco	490 → 511	GoLoco motif	Motif
PF02188	GoLoco	545 → 566	GoLoco motif	Motif
PF02188	GoLoco	595 → 616	GoLoco motif	Motif
PF02188	GoLoco	629 → 650	GoLoco motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed.

Sequence

MEENLISMREDHSFHVRYRMEASCLELALEGERLCKSGDCRAGVSFFEAAVQVGTEDLKT
LSAIYSQLGNAYFYLHDYAKALEYHHHDLTLARTIGDQLGEAKASGNLGNTLKVLGNFDE
AIVCCQRHLDISRELNDKVGEARALYNLGNVYHAKGKSFGCPGPQDVGEFPEEVRDALQA
AVDFYEENLSLVTALGDRAAQGRAFGNLGNTHYLLGNFRDAVIAHEQRLLIAKEFGDKAA
ERRAYSNLGNAYIFLGEFETASEYYKKTLLLARQLKDRAVEAQSCYSLGNTYTLLQDYEK
AIDYHLKHLAIAQELNDRIGEGRACWSLGNAYTALGNHDQAMHFAEKHLEISREVGDKSG
ELTARLNLSDLQMVLGLSYSTNNSIMSENTEIDSSLNGVRPKLGRRHSMENMELMKLTPE
KVQNWNSEILAKQKPLIAKPSAKLLFVNRLKGKKYKTNSSTKVLQDASNSIDHRIPNSQR
KISADTIGDEGFFDLLSRFQSNRMDDQRCCLQEKNCHTASTTTSSTPPKMMLKTSSVPVV
SPNTDEFLDLLASSQSRRLDDQRASFSNLPGLRLTQNSQSVLSHLMTNDNKEADEDFFDI
LVKCQGSRLDDQRCAPPPATTKGPTVPDEDFFSLILRSQGKRMDEQRVLLQRDQNRDTDF
GLKDFLQNNALLEFKNSGKKSADH

Sequence length

684

Interactions

View interactions

	Reactome
			G alpha (i) signalling events

167

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic	rs267606854	RCV004813028
Chudley-McCullough syndrome	Likely pathogenic; Pathogenic	rs2101429459, rs762285081, rs773445398, rs2101542489, rs2101528079, rs267606854, rs772372530, rs774168389, rs957559316, rs1060499797, rs387907010, rs528069912, rs145191476, rs777695770, rs370907055, rs1553216524, rs761092578 View all (2 more)	RCV001374666 RCV001728014 RCV001782230 RCV001782231 RCV001807949 RCV000001897 RCV002282113 RCV003456354 RCV003487106 RCV001727726 RCV000023761 RCV000029164 RCV000029165 RCV000029166 RCV001727767 RCV000626209 RCV001072143
Deafness	Likely pathogenic; Pathogenic	rs755804651	RCV000679817
GPSM2-related disorder	Pathogenic; Likely pathogenic	rs772372530, rs2524888761, rs528069912, rs370907055	RCV004529480 RCV003899768 RCV004528135 RCV004527679
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs267606854, rs1060499797, rs755804651	RCV000454206 RCV000454299 RCV001291335
Rare genetic deafness	Likely pathogenic; Pathogenic	rs727505300, rs773068151, rs772372530, rs528069912, rs370907055	RCV000156837 RCV000218080 RCV000607932 RCV000844707 RCV000604753

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs61754640	RCV005890025
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs61754640	RCV005890027
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs138132875, rs12028832, rs61754640	RCV005888329 RCV005892885 RCV005890028
Colorectal cancer	Conflicting classifications of pathogenicity	rs61754640	RCV005890029
Familial cancer of breast	-; Benign; Likely benign	rs2101549844, rs138132875	RCV005930044 RCV005888328
Gastric cancer	Benign	rs12028832	RCV005892888
Hearing impairment	Uncertain significance	rs727503087	RCV001375230
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs61754640	RCV005890026
Lung cancer	Benign; Likely benign	rs138132875, rs12028832	RCV005888330 RCV005892891
Malignant lymphoma, large B-cell, diffuse	Benign	rs12028832	RCV005892886
Melanoma	Conflicting classifications of pathogenicity	rs61754640	RCV005890033
Ovarian serous cystadenocarcinoma	Benign	rs12028832	RCV005892889
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs12028832, rs61754640	RCV005892887 RCV005890030
See cases	Uncertain significance	rs752300174	RCV002253120
Thymoma	Benign; Conflicting classifications of pathogenicity	rs12028832, rs61754640	RCV005892890 RCV005890031
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs61754640	RCV005890032
Uterine corpus endometrial carcinoma	Benign	rs12028832	RCV005892892

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Stimulate	28347229
Carcinoma Hepatocellular	Associate	32812493
Carcinoma Renal Cell	Associate	26043775
Central Nervous System Vascular Malformations	Associate	22578326
Chudley Mccullough syndrome	Associate	21348867, 22578326
Deafness	Associate	21348867
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	19296131
Hearing Loss	Stimulate	19888295
Hearing Loss	Associate	22578326
Hearing Loss Sensorineural	Associate	22578326
Hepatitis B	Associate	28347229
HIV Infections	Associate	21897333
Inflammation	Associate	21897333
Lupus Erythematosus Systemic	Stimulate	35940821
Neoplasm Metastasis	Associate	28347229
Neoplasms	Associate	21897333
Neoplasms	Stimulate	28347229
Nonsyndromic Deafness	Associate	22578326
Nonsyndromic sensorineural hearing loss	Associate	21348867
Prostatic Neoplasms	Associate	36601001
Psychomotor Disorders	Associate	19296131

GPSM2 (G protein signaling modulator 2)