Gene Gene information from NCBI Gene database.
Entrez ID 129049
Gene name Small G protein signaling modulator 1
Gene symbol SGSM1
Synonyms (NCBI Gene)
RUTBC2
Chromosome 22
Chromosome location 22q11.23
miRNA miRNA information provided by mirtarbase database.
239
miRTarBase ID miRNA Experiments Reference
MIRT038662 hsa-miR-221-5p CLASH 23622248
MIRT036711 hsa-miR-760 CLASH 23622248
MIRT631290 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT631289 hsa-miR-1323 HITS-CLIP 23824327
MIRT631288 hsa-miR-548o-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 22637480
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611417 29410 ENSG00000167037
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain, heart and testis. {ECO:0000269|PubMed:17509819}.
Sequence
MASAPAEAETRQRLLRTVKKEVKQIMEEAVTRKFVHEDSSHIISFCAAVEACVLHGLRRR
AAGFLRSNKIAALFMKVGKNFPPAEDLSRKVQDLEQLIESARNQIQGLQENVRKLPKLPN
LSPLAIKHLWIRTALFEKVLDKIVHYLVENSSKYYEKEALLMDPVDGPILASLLVGPCAL
EYTKMKTA
DHFWTDPSADELVQRHRIHSSHVRQDSPTKRPALCIQKRHSSGSMDDRPSLS
ARDYVESLHQNSRATLLYGKNNVLVQPRDDMEAVPGYLSLHQTADVMTLKWTPNQLMNGS
VGDLDYEKSVYWDYAMTIRLEEIVYLHCHQQVDSGGTVVLVSQDGIQRPPFRFPKGGHLL
QFLSCLENGLLPHGQLDPPLWSQRGKGKVFP
KLRKRSPQGSAESTSSDKDDDEATDYVFR
IIYPGMQSEFVAPDFLGSTSSVSVGPAWMMVPAGRSMLVVARGSQWEPARWDTTLPTPSP
KEQPPMPQDLMDVSVSNLPSLWQPSPRKSSCSSCSQSGSADGSSTNGCNHERAPLKLLCD
NMKYQILSRAFYGWLAYCRHLSTVRTHLSALVNHMIVSPDLPCDAGQGLTARIWEQYLHD
STSYEEQELLRLIYYGGIQPEIRKAVWPFLLGHYQFGMTETERKEVDEQIHACYAQTMAE
WLGCEAIVRQRERESHAAALAKCSSGASLDSHLHRMLHRDSTISNESSQSCSSGRQNIRL
HSDSSSSTQVFESVDEVEQVEAEGRLEEKQPKIPNGNLVNGTCSPDSGHPSSHNFSSGLS
EHSEPSLSTEDSVLDAQRNTPTVLRPRDGSVDDRQSSEATTSQDEAPREELAVQDSLESD
LLANESMDEFMSITGSLDMALPEKDDVVMEGWRSSETEKHGQADSEDNLSEEPEMESLFP
ALASLAVTTSANEVSPVSSSGVTYSPELLDLYTVNLHRIEKDVQRCDRNYWYFTPANLEK
LRNIMCSYIWQHIEIGYVQGMCDLLAPLLVILDDEALAFSCFTELMKRMNQNFPHGGAMD
THFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELVYDDVFLVWETIWAA
KHVSSAHYVLFIALALVEVYRDIIL
ENNMDFTDIIKFFNEMAERHNTKQVLKLARDLVYK
VQTLIENK
Sequence length 1148
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 38013317 Associate
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism GWASCAT_DG 30306274
★☆☆☆☆
Found in Text Mining only
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 27992413
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35484511 Inhibit
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Congenital heart defect Pubtator 27670201 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30744493
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal carcinoma Nasopharyngeal Carcinoma BEFREE 30573520
★☆☆☆☆
Found in Text Mining only