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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 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 (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.
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 |
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 | -- |
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 |
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: |
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 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chudley-mccullough syndrome |
|
|
branchiootic syndrome 1 |
|
|
deafness, autosomal recessive |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
rare genetic deafness |
|
|