GPSM2 - G protein signaling modulator 2 Gene

Also Known as LGN; CMCS; PINS; DFNB82

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29899

About GPSM2

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:108,876,985-108,934,545 (from NCBI)

This gene has 24 transcripts (splice variants), 113 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 9.6), esophagus (RPKM 8.8) and 24 other tissues.

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 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]

GPSM2 Products (3)

mRNA	Protein	Name
NM_001321038.2	NP_001307967.1	G-protein-signaling modulator 2
NM_001321039.3	NP_001307968.1	G-protein-signaling modulator 2
NM_013296.5	NP_037428.3	G-protein-signaling modulator 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dynein complex binding	IDA IDA: Inferred from direct assay	22327364	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	15537540	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11781568	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	22074847	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of mitotic spindle orientation	IMP IMP: Inferred from mutant phenotype	22327364	GOA
involved in maintenance of centrosome location	IMP IMP: Inferred from mutant phenotype	21816348	GOA
involved in mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	21816348	GOA
involved in positive regulation of protein localization to cell cortex	IMP IMP: Inferred from mutant phenotype	22327364	GOA
involved in positive regulation of spindle assembly	IMP IMP: Inferred from mutant phenotype	11781568	GOA
involved in regulation of mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	23027904	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell cortex	IDA IDA: Inferred from direct assay	21816348	GOA
colocalizes with cell cortex	IMP IMP: Inferred from mutant phenotype	22074847	GOA
located in cell cortex region	IDA IDA: Inferred from direct assay	22327364	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11781568	GOA
located in lateral cell cortex	IDA IDA: Inferred from direct assay	26766442	GOA
colocalizes with mitotic spindle pole	IDA IDA: Inferred from direct assay	21816348	GOA
located in mitotic spindle pole	IDA IDA: Inferred from direct assay	11781568	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	16458856	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	22074847	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPSM2 Protein Structure

TPR_1

TPR_12

TPR_7

TPR_12

TPR_1

GoLoco

0
200
400
600
684 a.a.

Protein Preferred Names	Protein Names
G-protein-signaling modulator 2	G-protein signalling modulator 2 (AGS3-like, C. elegans)

GPSM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GPSM2	P81274	ARHGEF40	Homo sapiens	Q8TER5-2	Validated Y2H	32296183
Intra	GPSM2	P81274	GAS2L1	Homo sapiens	Q99501	Validated Y2H	32296183
Intra	GPSM2	P81274	INSC	Homo sapiens	Q1MX18	Validated Y2H	32296183
Intra	GPSM2	P81274	WHRN	Homo sapiens	Q9P202	Validated Y2H	32296183
Intra	GPSM2	P81274	NUMA1	Homo sapiens	Q14980	Pull Down	15537540
Intra	GPSM2	P81274	NUMA1	Homo sapiens	Q14980	Y2H	15537540
Intra	GPSM2	P81274	LRRC8E	Homo sapiens	Q6NSJ5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Chudley-Mccullough Syndrome	CMCS Deafness, Sensorineural, With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts Deafness, Autosomal Recessive 82, Formerly Dfnb82, Formerly Deafness, Bilateral Sensorineural, And Hydrocephalus Due To Foramen Of Monro Obstruction Deafness Autosomal Recessive 82 Dfnb82 Sensorineural Deafness With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts Arachnoid Cysts
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Rare Genetic Deafness	Rare Genetic Hearing Loss
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	ACOGS
Deafness And Myopia	High Myopia-Sensorineural Deafness Syndrome DFNMYP Deafness And Myopia Syndrome Deafness, Cochlear, Plus High Myopia And Sensorineural Deafness Myopia And Deafness High Myopia-Sensorineural Hearing Loss Syndrome
Deafness, Autosomal Recessive 83	DFNB83 Autosomal Recessive Nonsyndromic Deafness 83 Autosomal Recessive Deafness 83
Deafness, Autosomal Recessive 85	DFNB85 Autosomal Recessive Nonsyndromic Deafness 85 Autosomal Recessive Deafness 85
Deafness, Autosomal Recessive 79	DFNB79 Autosomal Recessive Nonsyndromic Deafness 79 Autosomal Recessive Deafness 79 Deafness, Autosomal Recessive, 79 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79 Deafness, Autosomal Recessive, Type 79
Polymicrogyria	Pmg
Polymicrogyria, Bilateral Temporooccipital	Bilateral Parasagittal Parieto-Occipital Polymicrogyria BTOP Bilateral Temporooccipital Polymicrogyria Polymicrogyria
Deafness, X-Linked 4	DFNX4 Dfn6 Deafness, Nonsyndromic Sensorineural Progressive 6 X-Linked Deafness 4 Deafness, X-Linked 6, Progressive Nonsyndromic Sensorineural Progressive Deafness 6 X-Linked Progressive Deafness 6 Deafness, X-Linked, 4 Deafness Nonsyndromic Sensorineural Progressive 6 Deafness X-Linked 6 Progressive Deafness, X-Linked, Type 4
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Tubulinopathy	Tubulinopathies
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05760	GPSM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22538	Gpsm2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29058	Gpsm2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GPSM2	VGNC	VGNC:41458
Macaca mulatta	GPSM2	VGNC	VGNC:99964
Mus musculus	GPSM2	MGD	MGI:1923373
Bos taurus	GPSM2	VGNC	VGNC:29615
Felis catus	GPSM2	VGNC	VGNC:62698
Rattus norvegicus	GPSM2	RGD	RGD:1560967
Others	GPSM2	NCBI