Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609245 29501 ENSG00000121957
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
LVKCQGSRLDDQRCAP
PPATTKGPTVPDEDFFSLILRSQGKRMDEQRVLLQRDQNRDTDF
GLKDFLQNNALLEFKNSGKKSADH
Sequence length 684
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    G alpha (i) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Breast-ovarian cancer, familial, susceptibility to, 2 Pathogenic rs267606854 RCV004813028
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chudley-McCullough syndrome Likely pathogenic; Pathogenic rs2101429459, rs762285081, rs773445398, rs2101542489, rs2101528079, rs267606854, rs772372530, rs774168389, rs957559316, rs1060499797, rs387907010, rs528069912, rs145191476, rs777695770, rs370907055
View all (2 more)
RCV001374666
RCV001728014
RCV001782230
RCV001782231
RCV001807949
View all (12 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness Likely pathogenic; Pathogenic rs755804651 RCV000679817
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GPSM2-related disorder Pathogenic; Likely pathogenic rs772372530, rs2524888761, rs528069912, rs370907055 RCV004529480
RCV003899768
RCV004528135
RCV004527679
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 8560986
★☆☆☆☆
Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Amyloidosis BEFREE 8560986
★☆☆☆☆
Found in Text Mining only
Arachnoid Cysts Arachnoid cyst HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20589935
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28347229 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32812493 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26043775 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Chudley-Mccullough syndrome Chudley-Mccullough Syndrome GENOMICS_ENGLAND_DG 20602914, 22578326, 8973305
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)