Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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129049 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Small G protein signaling modulator 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SGSM1 |
SynonymsGene synonyms aliases
|
RUTBC2 |
ChromosomeChromosome number
|
22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
22q11.23 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q2NKQ1 |
Protein name |
Small G protein signaling modulator 1 (RUN and TBC1 domain-containing protein 2) |
Protein function |
Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as a GTPase effector with RAB9A and RAB9B; does not stimulate GT |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02759 |
RUN |
44 → 188 |
RUN domain |
Family |
PF12068 |
PH_RBD |
255 → 391 |
Rab-binding domain (RBD) |
Domain |
PF00566 |
RabGAP-TBC |
916 → 1105 |
Rab-GTPase-TBC domain |
Family |
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Sequence |
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Sequence length |
1148 |
Interactions |
View interactions |
Associated diseases
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Astigmatism |
Astigmatism |
|
30306274 |
Cholangitis |
Cholangitis, Sclerosing |
|
27992413 |
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