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 contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nu... See more...

Aliases for GPSM2 Gene

Aliases for GPSM2 Gene

  • G Protein Signaling Modulator 2 2 3 5
  • G-Protein Signalling Modulator 2 (AGS3-Like, C. Elegans) 2 3
  • G-Protein-Signaling Modulator 2 3 4
  • Mosaic Protein LGN 3 4
  • LGN 3 4
  • Deafness, Autosomal Recessive 82 2
  • G-Protein Signaling Modulator 2 2
  • DFNB82 3
  • CMCS 3
  • PINS 3

External Ids for GPSM2 Gene

Previous HGNC Symbols for GPSM2 Gene

  • DFNB82

Previous GeneCards Identifiers for GPSM2 Gene

  • GC01P108766
  • GC01P109131
  • GC01P109220
  • GC01P109417
  • GC01P107312

Summaries for GPSM2 Gene

Entrez Gene Summary for GPSM2 Gene

  • 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 contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for GPSM2 Gene

GPSM2 (G Protein Signaling Modulator 2) is a Protein Coding gene. Diseases associated with GPSM2 include Chudley-Mccullough Syndrome and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include identical protein binding and GDP-dissociation inhibitor activity. An important paralog of this gene is GPSM1.

UniProtKB/Swiss-Prot Summary for GPSM2 Gene

  • 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). Plays also 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).

Gene Wiki entry for GPSM2 Gene

Additional gene information for GPSM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPSM2 Gene

Genomics for GPSM2 Gene

GeneHancer (GH) Regulatory Elements for GPSM2 Gene

Promoters and enhancers for GPSM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J108875 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +2.5 2535 3.9 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G USF1 ZNF639 ZNF10 ZIC2 GPSM2 PSRC1 AKNAD1 SPATA42 CLCC1 piR-30791-003
GH01J108827 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 13.2 -45.1 -45133 4.8 ZNF217 CTCF NRF1 USF1 NCOR1 JUND FOS ZIC2 REST TRIM28 GPSM2 AKNAD1 WDR47 HENMT1 LOC105378891 SPATA42
GH01J108841 Enhancer 0.7 Ensembl 16.8 -32.7 -32749 2.4 CTBP1 ZNF316 NFIC MAFF MAFK ZBTB11 ZBTB48 TAL1 SCRT1 TCF12 GPSM2 SPATA42 LOC105378891 lnc-AKNAD1-2 AKNAD1
GH01J108845 Enhancer 0.7 Ensembl ENCODE 17.5 -29.1 -29147 2.2 REST HLF GATA3 FOS IKZF1 MYC STAT3 GPSM2 LOC105378891 lnc-AKNAD1-2 SPATA42 AKNAD1
GH01J109796 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.6 +927.8 927750 13.4 TCF12 ZNF639 ZIC2 ZNF623 ZNF510 TSC22D4 CTBP1 ATF2 ZEB1 ZNF341 ENSG00000244716 ENSG00000258634 STRIP1 CSF1 GSTM2 ENSG00000228665 PSRC1 CLCC1 GSTM5 ENSG00000235005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPSM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPSM2

Top Transcription factor binding sites by QIAGEN in the GPSM2 gene promoter:
  • ARP-1
  • ATF6
  • C/EBPbeta
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HSF1 (long)
  • HSF1short
  • p53
  • STAT5B

Genomic Locations for GPSM2 Gene

Genomic Locations for GPSM2 Gene
chr1:108,875,350-108,934,545
(GRCh38/hg38)
Size:
59,196 bases
Orientation:
Plus strand
chr1:109,417,972-109,477,167
(GRCh37/hg19)
Size:
59,196 bases
Orientation:
Plus strand

Genomic View for GPSM2 Gene

Genes around GPSM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPSM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPSM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPSM2 Gene

Proteins for GPSM2 Gene

  • Protein details for GPSM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P81274-GPSM2_HUMAN
    Recommended name:
    G-protein-signaling modulator 2
    Protein Accession:
    P81274
    Secondary Accessions:
    • Q5T1N8
    • Q6IBL7
    • Q8N0Z5

    Protein attributes for GPSM2 Gene

    Size:
    684 amino acids
    Molecular mass:
    76662 Da
    Quaternary structure:
    • Interacts with the dynein-dynactin complex; this interaction is inhibited in a PLK1-dependent manner (PubMed:22327364). Part of a spindle orientation complex at least composed of GNAI1, GPSM2 and NUMA1 (PubMed:26766442). Interacts with LLGL2 (PubMed:15632202). Interacts (via TPR repeat region) with INSC/inscuteable (PubMed:16458856, PubMed:22074847). Interacts (via TPR repeat region) with NUMA1 (via C-terminus); this interaction is direct, inhibited in a PLK1-dependent manner, prevents the binding of NUMA1 with SPAG5 and promotes spindle pole organization (PubMed:11781568, PubMed:22327364, PubMed:27462074). INSC and NUMA1 compete for the same binding site, but INSC has higher affinity and can displace NUMA1 (in vitro) (PubMed:22074847). Interacts with GNAI2 (PubMed:8973305). Interacts (via GoLoco domains) with the GDP-bound form of GNAI1 and GNAI3; has much lower affinity for the GTP-bound form. Interaction with GDP-bound GNAI3 strongly enhances the affinity for NUMA1 (By similarity). Interacts (via TPR repeat region) with FRMPD1 (PubMed:22074847). INSC and FRMPD1 compete for the same binding site, but INSC has higher affinity and can displace FRMPD1 (in vitro) (By similarity). Interacts (via TPR repeat region) with FRMPD4 (PubMed:22074847, PubMed:25664792). Identified in a complex with INSC and F2RL2/Par3 (PubMed:16458856).
    Miscellaneous:
    • Dysfunction of LGN is associated with the phenotype of multiple micronuclei due to chromosomal mis-segregation and defect in cell division through mis-localization of mitotic spindle regulator protein NUMA1.
    SequenceCaution:
    • Sequence=AAB40385.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH27732.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GPSM2 Gene

neXtProt entry for GPSM2 Gene

Post-translational modifications for GPSM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GPSM2 Gene

Domains & Families for GPSM2 Gene

Gene Families for GPSM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GPSM2 Gene

Blocks:
  • G-alpha GTPase activator, LGN
  • Tetratricopeptide TPR_4
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPSM2 Gene

GenScript: Design optimal peptide antigens:
  • G-protein signaling modulator 2 (AGS3-like, C. elegans) (B0QZD1_HUMAN)
  • Mosaic protein LGN (GPSM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P81274

UniProtKB/Swiss-Prot:

GPSM2_HUMAN :
  • Belongs to the GPSM family.
Family:
  • Belongs to the GPSM family.
genes like me logo Genes that share domains with GPSM2: view

Function for GPSM2 Gene

Molecular function for GPSM2 Gene

UniProtKB/Swiss-Prot 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). Plays also 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).

Phenotypes From GWAS Catalog for GPSM2 Gene

Gene Ontology (GO) - Molecular Function for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0005092 GDP-dissociation inhibitor activity ISS --
GO:0005515 protein binding IPI,IEA 11781568
GO:0008022 protein C-terminus binding IPI 22074847
genes like me logo Genes that share ontologies with GPSM2: view
genes like me logo Genes that share phenotypes with GPSM2: view

Human Phenotype Ontology for GPSM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPSM2 Gene

MGI Knock Outs for GPSM2:
  • Gpsm2 Gpsm2<tm1b(EUCOMM)Wtsi>
  • Gpsm2 Gpsm2<tm1.2Fuma>
  • Gpsm2 Gpsm2<tm1a(EUCOMM)Wtsi>
  • Gpsm2 Gpsm2<tm1.1(Venus)Fuma>

Animal Model Products

Clone Products

  • Addgene plasmids for GPSM2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPSM2 Gene

Localization for GPSM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPSM2 Gene

Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton, spindle pole. Lateral cell membrane. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPSM2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 3
extracellular 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA,IDA 11781568
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GPSM2: view

Pathways & Interactions for GPSM2 Gene

PathCards logo

SuperPathways for GPSM2 Gene

No Data Available

SIGNOR curated interactions for GPSM2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IMP 22327364
GO:0007049 cell cycle IEA --
GO:0007052 mitotic spindle organization IMP 21816348
GO:0007186 G protein-coupled receptor signaling pathway TAS 8973305
GO:0031291 Ran protein signal transduction IMP 22327364
genes like me logo Genes that share ontologies with GPSM2: view

No data available for Pathways by source for GPSM2 Gene

Drugs & Compounds for GPSM2 Gene

No Compound Related Data Available

Transcripts for GPSM2 Gene

mRNA/cDNA for GPSM2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for GPSM2

Alternative Splicing Database (ASD) splice patterns (SP) for GPSM2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1:
SP2:
SP3: - - -
SP4: - - - - -
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for GPSM2 Gene

GeneLoc Exon Structure for
GPSM2

Expression for GPSM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPSM2 Gene

Protein differential expression in normal tissues from HIPED for GPSM2 Gene

This gene is overexpressed in Testis (46.3) and Fetal heart (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPSM2 Gene



Protein tissue co-expression partners for GPSM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPSM2

SOURCE GeneReport for Unigene cluster for GPSM2 Gene:

Hs.584901

mRNA Expression by UniProt/SwissProt for GPSM2 Gene:

P81274-GPSM2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for GPSM2 Gene

  • Nervous system(4.7)
  • Muscle(4.4)
  • Skin(2.3)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPSM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • meninges
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GPSM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GPSM2 Gene

Orthologs for GPSM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPSM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPSM2 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPSM2 31 30
  • 92.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPSM2 31 30
  • 92.01 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPSM2 31
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 84 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gpsm2 17 31 30
  • 86.02 (n)
rat
(Rattus norvegicus)
Mammalia Gpsm2 30
  • 83.93 (n)
chicken
(Gallus gallus)
Aves GPSM2 31 30
  • 79.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPSM2 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpsm2 30
  • 71.75 (n)
Str.9966 30
African clawed frog
(Xenopus laevis)
Amphibia ags3-prov 30
zebrafish
(Danio rerio)
Actinopterygii gpsm2l 31
  • 81 (a)
OneToMany
gpsm2 31 30
  • 67.04 (n)
OneToMany
zgc63574 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008977 30
  • 57.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta raps 31 30
  • 56.51 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ags-3 31 30
  • 44.42 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5850 31
  • 56 (a)
ManyToMany
CSA.9104 31
  • 33 (a)
ManyToMany
Cin.2755 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2755 30
Species where no ortholog for GPSM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPSM2 Gene

ENSEMBL:
Gene Tree for GPSM2 (if available)
TreeFam:
Gene Tree for GPSM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPSM2: view image

Paralogs for GPSM2 Gene

Paralogs for GPSM2 Gene

(2) SIMAP similar genes for GPSM2 Gene using alignment to 5 proteins:

  • GPSM2_HUMAN
  • B0QZC9_HUMAN
  • B0QZD0_HUMAN
  • H0Y4A4_HUMAN
  • Q5T1N9_HUMAN
genes like me logo Genes that share paralogs with GPSM2: view

Variants for GPSM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPSM2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
666836 Uncertain Significance: not specified 108,901,810(+) G/A MISSENSE_VARIANT
667117 Likely Benign: not specified 108,904,121(+) G/C INTRON_VARIANT
676964 Benign: not provided 108,903,331(+) A/G INTRON_VARIANT
681360 Benign: not provided 108,903,423(+) C/G INTRON_VARIANT
681782 Benign: not provided 108,914,228(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GPSM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPSM2 Gene

Variant ID Type Subtype PubMed ID
dgv15n21 CNV gain 19592680
dgv251n100 CNV loss 25217958
esv3587140 CNV gain 21293372
esv3587141 CNV loss 21293372
nsv1005738 CNV loss 25217958
nsv547425 CNV gain 21841781
nsv831026 CNV loss 17160897

Variation tolerance for GPSM2 Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPSM2 Gene

Human Gene Mutation Database (HGMD)
GPSM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPSM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPSM2 Gene

Disorders for GPSM2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for GPSM2 Gene - From: LncRNADisease, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chudley-mccullough syndrome
  • cmcs
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
branchiootic syndrome 1
  • bos1
rare genetic deafness
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search GPSM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPSM2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for GPSM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GPSM2: view

No data available for Genatlas for GPSM2 Gene

Publications for GPSM2 Gene

  1. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. (PMID: 20602914) Walsh T … Kanaan M (American journal of human genetics 2010) 2 3 4 54
  2. Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3. (PMID: 16458856) Izaki T … Sumimoto H (Biochemical and biophysical research communications 2006) 3 4 23 54
  3. A mammalian Partner of inscuteable binds NuMA and regulates mitotic spindle organization. (PMID: 11781568) Du Q … Macara IG (Nature cell biology 2001) 3 4 23 54
  4. Identification and cDNA cloning of a novel human mosaic protein, LGN, based on interaction with G alpha i2. (PMID: 8973305) Mochizuki N … Insel PA (Gene 1996) 2 3 4 54
  5. Nuclear Mitotic Apparatus (NuMA) Interacts with and Regulates Astrin at the Mitotic Spindle. (PMID: 27462074) Chu X … Du Q (The Journal of biological chemistry 2016) 3 4 54

Products for GPSM2 Gene

Sources for GPSM2 Gene