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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
External Ids for GPSM2 Gene
- HGNC: 29501
- NCBI Entrez Gene: 29899
- Ensembl: ENSG00000121957
- OMIM®: 609245
- UniProtKB/Swiss-Prot: P81274
Previous HGNC Symbols for GPSM2 Gene
- DFNB82
Previous GeneCards Identifiers for GPSM2 Gene
- GC01P108766
- GC01P109131
- GC01P109220
- GC01P109417
- GC01P107312
Summaries 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 Branchiootic Syndrome 1. 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).
Additional gene information for GPSM2 Gene
- HGNC (29501)
- NCBI Entrez Gene (29899)
- Ensembl (ENSG00000121957)
- OMIM® (609245)
- UniProtKB/Swiss-Prot (P81274)
- Open Targets Platform(ENSG00000121957)
- Monarch Initiative
- Search for GPSM2 at DataMed
- Search for GPSM2 at HumanCyc
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 Pubs
Promoters and enhancers for GPSM2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr1:108,875,350-108,934,545
- (GRCh38/hg38)
- Size:
- 59,196 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:109,419,607-109,477,167
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 57,561 bases
- Orientation:
- Plus strand
- chr1:109,417,972-109,477,167
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
GPSM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with TASOR (By similarity).
- 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};
- 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.
Protein Expression for GPSM2 Gene
Post-translational modifications for GPSM2 Gene
Other Protein References for GPSM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences GPSM2 / LGN Antibody (LS-B2915) and GPSM2 / LGN Antibody (LS-B3996)
- G Biosciences Immunotag™ GPSM2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for GPSM2
- Novus Biologicals Antibodies for GPSM2
- Invitrogen Antibodies for GPSM2 (AFLGC-GPSM2)
-
Boster Bio Antibodies for GPSM2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for GPSM2
- Origene Custom Protein Services for GPSM2
-
Abcam proteins for GPSM2
Assay products for research
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
- InterPro:
- Blocks:
-
- G-alpha GTPase activator, LGN
- Tetratricopeptide TPR_4
- 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- Family:
-
- Belongs to the GPSM family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0001965 | G-protein alpha-subunit binding | IPI | -- |
| GO:0005092 | GDP-dissociation inhibitor activity | IDA,ISS | -- |
| GO:0005515 | protein binding | IEA,IPI | 11781568 |
| GO:0008022 | protein C-terminus binding | IPI | 22074847 |
Phenotypes for GPSM2 Gene
- MGI mutant phenotypes for GPSM2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for GPSM2:
Animal Models for GPSM2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GPSM2 - Starting at $85 >
- * GPSM2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GPSM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPSM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPSM2
miRNA for GPSM2 Gene
- miRTarBase miRNAs that target GPSM2
-
- hsa-miR-373-3p (MIRT002524)
- hsa-miR-215-5p (MIRT024301)
- hsa-miR-192-5p (MIRT026240)
- hsa-miR-5687 (MIRT609893)
- hsa-miR-32-3p (MIRT609894)
- hsa-miR-4474-5p (MIRT709222)
- hsa-miR-4704-3p (MIRT709223)
- hsa-miR-383-3p (MIRT709224)
- hsa-miR-3065-3p (MIRT709225)
- hsa-miR-323a-3p (MIRT709226)
- hsa-miR-569 (MIRT709227)
- hsa-miR-378a-5p (MIRT709228)
- hsa-miR-17-3p (MIRT709229)
- hsa-miR-4526 (MIRT709230)
- hsa-miR-3660 (MIRT709231)
- hsa-miR-103b (MIRT761086)
- hsa-miR-122-5p (MIRT761329)
- hsa-miR-143-5p (MIRT762680)
- hsa-miR-215-3p (MIRT763840)
- hsa-miR-3135b (MIRT764927)
- hsa-miR-3652 (MIRT766285)
- hsa-miR-4430 (MIRT768920)
- hsa-miR-500b-3p (MIRT772988)
- hsa-miR-504-3p (MIRT773049)
- hsa-miR-564 (MIRT774920)
- hsa-miR-5693 (MIRT775033)
- hsa-miR-5698 (MIRT775147)
- hsa-miR-6499-3p (MIRT776268)
- hsa-miR-6773-3p (MIRT778709)
- hsa-miR-6854-5p (MIRT780467)
- hsa-miR-6879-3p (MIRT780786)
- hsa-miR-7705 (MIRT782089)
- hsa-miR-891a-3p (MIRT782616)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPSM2
- Browse OriGene Inhibitory RNA Products For GPSM2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPSM2
Clone products for research
- Applied Biological Materials (abm): Clones for GPSM2 - Starting at $45 >
- * GPSM2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GPSM2
- Addgene plasmids for GPSM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPSM2
Cell Lines for research
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 11781568 |
| GO:0005813 | centrosome | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for GPSM2 Gene
Interacting Proteins for GPSM2 Gene
Selected Interacting proteins:
P81274-GPSM2_HUMAN
ENSP00000385510
for GPSM2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GPSM2
| 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 |
No data available for Pathways by source for GPSM2 Gene
Transcripts for GPSM2 Gene
mRNA/cDNA for GPSM2 Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264126 7152 nts (view in UCSC)
- ENST00000406462 7433 nts (view in UCSC)
- ENST00000435475 992 nts (view in UCSC)
- ENST00000435987 904 nts (view in UCSC)
- ENST00000441735 2378 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GPSM2 - Starting at $85 >
- * GPSM2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GPSM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPSM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPSM2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPSM2
- Browse OriGene Inhibitory RNA Products For GPSM2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPSM2
Clone products for research
- Applied Biological Materials (abm): Clones for GPSM2 - Starting at $45 >
- * GPSM2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GPSM2
- Addgene plasmids for GPSM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPSM2
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Esophagus (Gastrointestinal Tract)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPSM2
SOURCE GeneReport for Unigene cluster for GPSM2 Gene:
Hs.584901mRNA 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(4.3)
- Skin(2.4)
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
Primer products for research
-
OriGene qPCR primer pairs for GPSM2
-
OriGene qPCR primer pairs and template standards for GPSM2
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for GPSM2 Gene
Orthologs for GPSM2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GPSM2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GPSM2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GPSM2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GPSM2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Gpsm2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gpsm2 30 |
|
||
| Chicken (Gallus gallus) |
Aves | GPSM2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GPSM2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpsm2 30 |
|
||
| Str.9966 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | ags3-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gpsm2l 31 |
|
OneToMany | |
| gpsm2 30 31 |
|
OneToMany | |||
| zgc63574 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008977 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | raps 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ags-3 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5850 31 |
|
ManyToMany | |
| CSA.9104 31 |
|
ManyToMany | |||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2755 30 |
|
- Species where no ortholog for GPSM2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
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 |
|---|---|---|---|---|---|
| 864860 | Likely Pathogenic: Chudley-McCullough syndrome | 108,922,474(+) |
CA/C NM_013296.5(GPSM2):c.1501del (p.Ser501fs) |
FRAMESHIFT | |
| 873607 | Uncertain Significance: Chudley-McCullough syndrome | 108,877,161(+) |
C/T NM_013296.5(GPSM2):c.-316C>T |
FIVE_PRIME_UTR | |
| 873608 | Uncertain Significance: Chudley-McCullough syndrome | 108,877,189(+) |
C/A NM_013296.5(GPSM2):c.-288C>A |
FIVE_PRIME_UTR | |
| 873665 | Uncertain Significance: Chudley-McCullough syndrome; not provided | 108,922,448(+) |
G/C NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) |
MISSENSE | |
| 873666 | Uncertain Significance: Chudley-McCullough syndrome | 108,924,064(+) |
G/C NM_013296.5(GPSM2):c.1665G>C (p.Gln555His) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPSM2 Gene
Disorders for GPSM2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chudley-mccullough syndrome |
|
|
| branchiootic syndrome 1 |
|
|
| deafness, autosomal recessive |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| rare genetic deafness |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for GPSM2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for GPSM2 Gene
Publications for GPSM2 Gene
- 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 74
- GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. (PMID: 22578326) Doherty D … Zelinski T (American journal of human genetics 2012) 3 4 74
- 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
- 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
- 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
ExternalLinks
Products for GPSM2 Gene
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- antibodies-online: Show 10 available GPSM2 Antibodies ranked by validation data
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- Boster Bio Antibodies for GPSM2
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Sources for GPSM2 Gene
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