Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	129049
Gene name Gene Name - the full gene name approved by the HGNC.	Small G protein signaling modulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SGSM1
Synonyms (NCBI Gene) Gene synonyms aliases	RUTBC2
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.23

Show/Hide all(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
MIRT631287	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT631286	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT631285	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT631284	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT631283	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT631282	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT631281	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT631280	hsa-miR-6131	HITS-CLIP	23824327
MIRT631279	hsa-miR-548s	HITS-CLIP	23824327
MIRT631278	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT631277	hsa-miR-588	HITS-CLIP	23824327
MIRT631276	hsa-miR-4435	HITS-CLIP	23824327
MIRT631274	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT631275	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT631273	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT631290	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT631289	hsa-miR-1323	HITS-CLIP	23824327
MIRT631288	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT631287	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT631286	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT631285	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT631284	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT631283	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT631282	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT631281	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT631280	hsa-miR-6131	HITS-CLIP	23824327
MIRT631279	hsa-miR-548s	HITS-CLIP	23824327
MIRT631278	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT631277	hsa-miR-588	HITS-CLIP	23824327
MIRT631276	hsa-miR-4435	HITS-CLIP	23824327
MIRT631274	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT631275	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT631273	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT1343854	hsa-miR-1224-3p	CLIP-seq
MIRT1343855	hsa-miR-1238	CLIP-seq
MIRT1343856	hsa-miR-150	CLIP-seq
MIRT1343857	hsa-miR-1976	CLIP-seq
MIRT1343858	hsa-miR-2355-5p	CLIP-seq
MIRT1343859	hsa-miR-3153	CLIP-seq
MIRT1343860	hsa-miR-3184	CLIP-seq
MIRT1343861	hsa-miR-3186-5p	CLIP-seq
MIRT1343862	hsa-miR-423-5p	CLIP-seq
MIRT1343863	hsa-miR-4258	CLIP-seq
MIRT1343864	hsa-miR-4269	CLIP-seq
MIRT1343865	hsa-miR-4279	CLIP-seq
MIRT1343866	hsa-miR-4436a	CLIP-seq
MIRT1343867	hsa-miR-4438	CLIP-seq
MIRT1343868	hsa-miR-4443	CLIP-seq
MIRT1343869	hsa-miR-4454	CLIP-seq
MIRT1343870	hsa-miR-4691-5p	CLIP-seq
MIRT1343871	hsa-miR-4722-3p	CLIP-seq
MIRT1343872	hsa-miR-5095	CLIP-seq
MIRT1343873	hsa-miR-562	CLIP-seq
MIRT1343874	hsa-miR-1253	CLIP-seq
MIRT1343875	hsa-miR-2113	CLIP-seq
MIRT1343876	hsa-miR-3714	CLIP-seq
MIRT1343877	hsa-miR-3919	CLIP-seq
MIRT2101622	hsa-miR-106a	CLIP-seq
MIRT2101623	hsa-miR-106b	CLIP-seq
MIRT2101624	hsa-miR-1297	CLIP-seq
MIRT1343856	hsa-miR-150	CLIP-seq
MIRT2101625	hsa-miR-17	CLIP-seq
MIRT2101626	hsa-miR-186	CLIP-seq
MIRT2101627	hsa-miR-1915	CLIP-seq
MIRT1343857	hsa-miR-1976	CLIP-seq
MIRT2101628	hsa-miR-20a	CLIP-seq
MIRT2101629	hsa-miR-20b	CLIP-seq
MIRT2101630	hsa-miR-26a	CLIP-seq
MIRT2101631	hsa-miR-26b	CLIP-seq
MIRT2101632	hsa-miR-302a	CLIP-seq
MIRT2101633	hsa-miR-302b	CLIP-seq
MIRT2101634	hsa-miR-302c	CLIP-seq
MIRT2101635	hsa-miR-302d	CLIP-seq
MIRT2101636	hsa-miR-302e	CLIP-seq
MIRT2101637	hsa-miR-3133	CLIP-seq
MIRT2101638	hsa-miR-3607-3p	CLIP-seq
MIRT2101639	hsa-miR-3680	CLIP-seq
MIRT2101640	hsa-miR-3686	CLIP-seq
MIRT2101641	hsa-miR-372	CLIP-seq
MIRT2101642	hsa-miR-373	CLIP-seq
MIRT2101643	hsa-miR-3934	CLIP-seq
MIRT1343865	hsa-miR-4279	CLIP-seq
MIRT1343867	hsa-miR-4438	CLIP-seq
MIRT2101644	hsa-miR-4465	CLIP-seq
MIRT2101645	hsa-miR-4695-3p	CLIP-seq
MIRT1343871	hsa-miR-4722-3p	CLIP-seq
MIRT2101646	hsa-miR-4726-3p	CLIP-seq
MIRT2101647	hsa-miR-4731-5p	CLIP-seq
MIRT2101648	hsa-miR-4772-3p	CLIP-seq
MIRT2101649	hsa-miR-4773	CLIP-seq
MIRT1343872	hsa-miR-5095	CLIP-seq
MIRT2101650	hsa-miR-512-3p	CLIP-seq
MIRT2101651	hsa-miR-519d	CLIP-seq
MIRT2101652	hsa-miR-520a-3p	CLIP-seq
MIRT2101653	hsa-miR-520b	CLIP-seq
MIRT2101654	hsa-miR-520c-3p	CLIP-seq
MIRT2101655	hsa-miR-520d-3p	CLIP-seq
MIRT2101656	hsa-miR-520e	CLIP-seq
MIRT2101657	hsa-miR-520g	CLIP-seq
MIRT2101658	hsa-miR-520h	CLIP-seq
MIRT2101659	hsa-miR-552	CLIP-seq
MIRT1343873	hsa-miR-562	CLIP-seq
MIRT2101660	hsa-miR-887	CLIP-seq
MIRT2101661	hsa-miR-93	CLIP-seq
MIRT2326026	hsa-miR-122	CLIP-seq
MIRT2326027	hsa-miR-1226	CLIP-seq
MIRT2326028	hsa-miR-1260	CLIP-seq
MIRT2326029	hsa-miR-1260b	CLIP-seq
MIRT2101624	hsa-miR-1297	CLIP-seq
MIRT1343856	hsa-miR-150	CLIP-seq
MIRT2326030	hsa-miR-188-3p	CLIP-seq
MIRT2326031	hsa-miR-190	CLIP-seq
MIRT2326032	hsa-miR-190b	CLIP-seq
MIRT2101627	hsa-miR-1915	CLIP-seq
MIRT1343857	hsa-miR-1976	CLIP-seq
MIRT2101630	hsa-miR-26a	CLIP-seq
MIRT2101631	hsa-miR-26b	CLIP-seq
MIRT2326033	hsa-miR-3135b	CLIP-seq
MIRT2326034	hsa-miR-3156-3p	CLIP-seq
MIRT2326035	hsa-miR-3202	CLIP-seq
MIRT2326036	hsa-miR-323b-3p	CLIP-seq
MIRT2326037	hsa-miR-3652	CLIP-seq
MIRT2326038	hsa-miR-3667-5p	CLIP-seq
MIRT1343863	hsa-miR-4258	CLIP-seq
MIRT1343864	hsa-miR-4269	CLIP-seq
MIRT1343865	hsa-miR-4279	CLIP-seq
MIRT2326039	hsa-miR-4428	CLIP-seq
MIRT2326040	hsa-miR-4430	CLIP-seq
MIRT1343867	hsa-miR-4438	CLIP-seq
MIRT2326041	hsa-miR-4444	CLIP-seq
MIRT2101644	hsa-miR-4465	CLIP-seq
MIRT2326042	hsa-miR-4492	CLIP-seq
MIRT2326043	hsa-miR-4497	CLIP-seq
MIRT2326044	hsa-miR-4498	CLIP-seq
MIRT2326045	hsa-miR-4533	CLIP-seq
MIRT2101645	hsa-miR-4695-3p	CLIP-seq
MIRT1343871	hsa-miR-4722-3p	CLIP-seq
MIRT2101646	hsa-miR-4726-3p	CLIP-seq
MIRT2326046	hsa-miR-4735-5p	CLIP-seq
MIRT2101648	hsa-miR-4772-3p	CLIP-seq
MIRT2326047	hsa-miR-4775	CLIP-seq
MIRT1343872	hsa-miR-5095	CLIP-seq
MIRT2326048	hsa-miR-545	CLIP-seq
MIRT1343873	hsa-miR-562	CLIP-seq
MIRT2326049	hsa-miR-590-3p	CLIP-seq
MIRT2326050	hsa-miR-634	CLIP-seq
MIRT2326051	hsa-miR-762	CLIP-seq
MIRT2326052	hsa-miR-890	CLIP-seq
MIRT2466015	hsa-miR-1273f	CLIP-seq
MIRT2101624	hsa-miR-1297	CLIP-seq
MIRT1343856	hsa-miR-150	CLIP-seq
MIRT2101627	hsa-miR-1915	CLIP-seq
MIRT1343857	hsa-miR-1976	CLIP-seq
MIRT2101630	hsa-miR-26a	CLIP-seq
MIRT2101631	hsa-miR-26b	CLIP-seq
MIRT2466016	hsa-miR-3149	CLIP-seq
MIRT2466017	hsa-miR-3170	CLIP-seq
MIRT2466018	hsa-miR-411	CLIP-seq
MIRT1343863	hsa-miR-4258	CLIP-seq
MIRT1343865	hsa-miR-4279	CLIP-seq
MIRT2101644	hsa-miR-4465	CLIP-seq
MIRT1343871	hsa-miR-4722-3p	CLIP-seq
MIRT2101646	hsa-miR-4726-3p	CLIP-seq
MIRT2326046	hsa-miR-4735-5p	CLIP-seq
MIRT2326047	hsa-miR-4775	CLIP-seq
MIRT2326049	hsa-miR-590-3p	CLIP-seq
MIRT2326026	hsa-miR-122	CLIP-seq
MIRT2466015	hsa-miR-1273f	CLIP-seq
MIRT2101624	hsa-miR-1297	CLIP-seq
MIRT1343856	hsa-miR-150	CLIP-seq
MIRT2101627	hsa-miR-1915	CLIP-seq
MIRT2621705	hsa-miR-197	CLIP-seq
MIRT1343857	hsa-miR-1976	CLIP-seq
MIRT2101630	hsa-miR-26a	CLIP-seq
MIRT2101631	hsa-miR-26b	CLIP-seq
MIRT2326033	hsa-miR-3135b	CLIP-seq
MIRT2466016	hsa-miR-3149	CLIP-seq
MIRT2466017	hsa-miR-3170	CLIP-seq
MIRT2326037	hsa-miR-3652	CLIP-seq
MIRT2466018	hsa-miR-411	CLIP-seq
MIRT1343863	hsa-miR-4258	CLIP-seq
MIRT2621706	hsa-miR-4268	CLIP-seq
MIRT1343864	hsa-miR-4269	CLIP-seq
MIRT1343865	hsa-miR-4279	CLIP-seq
MIRT2326040	hsa-miR-4430	CLIP-seq
MIRT1343867	hsa-miR-4438	CLIP-seq
MIRT2101644	hsa-miR-4465	CLIP-seq
MIRT2326042	hsa-miR-4492	CLIP-seq
MIRT2326044	hsa-miR-4498	CLIP-seq
MIRT1343870	hsa-miR-4691-5p	CLIP-seq
MIRT2101645	hsa-miR-4695-3p	CLIP-seq
MIRT2621707	hsa-miR-4716-5p	CLIP-seq
MIRT1343871	hsa-miR-4722-3p	CLIP-seq
MIRT2101646	hsa-miR-4726-3p	CLIP-seq
MIRT2326046	hsa-miR-4735-5p	CLIP-seq
MIRT2326047	hsa-miR-4775	CLIP-seq
MIRT1343872	hsa-miR-5095	CLIP-seq
MIRT2621708	hsa-miR-5096	CLIP-seq
MIRT1343873	hsa-miR-562	CLIP-seq
MIRT2326049	hsa-miR-590-3p	CLIP-seq
MIRT2326051	hsa-miR-762	CLIP-seq
MIRT2326026	hsa-miR-122	CLIP-seq
MIRT2466015	hsa-miR-1273f	CLIP-seq
MIRT2101624	hsa-miR-1297	CLIP-seq
MIRT1343856	hsa-miR-150	CLIP-seq
MIRT2101627	hsa-miR-1915	CLIP-seq
MIRT2621705	hsa-miR-197	CLIP-seq
MIRT1343857	hsa-miR-1976	CLIP-seq
MIRT2101630	hsa-miR-26a	CLIP-seq
MIRT2101631	hsa-miR-26b	CLIP-seq
MIRT2326033	hsa-miR-3135b	CLIP-seq
MIRT2466016	hsa-miR-3149	CLIP-seq
MIRT2466017	hsa-miR-3170	CLIP-seq
MIRT2326037	hsa-miR-3652	CLIP-seq
MIRT2466018	hsa-miR-411	CLIP-seq
MIRT1343863	hsa-miR-4258	CLIP-seq
MIRT1343864	hsa-miR-4269	CLIP-seq
MIRT1343865	hsa-miR-4279	CLIP-seq
MIRT2326040	hsa-miR-4430	CLIP-seq
MIRT1343867	hsa-miR-4438	CLIP-seq
MIRT2101644	hsa-miR-4465	CLIP-seq
MIRT2326042	hsa-miR-4492	CLIP-seq
MIRT2326044	hsa-miR-4498	CLIP-seq
MIRT2101645	hsa-miR-4695-3p	CLIP-seq
MIRT2621707	hsa-miR-4716-5p	CLIP-seq
MIRT1343871	hsa-miR-4722-3p	CLIP-seq
MIRT2101646	hsa-miR-4726-3p	CLIP-seq
MIRT2326046	hsa-miR-4735-5p	CLIP-seq
MIRT2326047	hsa-miR-4775	CLIP-seq
MIRT1343872	hsa-miR-5095	CLIP-seq
MIRT2621708	hsa-miR-5096	CLIP-seq
MIRT1343873	hsa-miR-562	CLIP-seq
MIRT2326049	hsa-miR-590-3p	CLIP-seq
MIRT2326051	hsa-miR-762	CLIP-seq

Show/Hide all(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
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	22637480
GO:0016020	Component	Membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	22637480
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	22637480
GO:0031410	Component	Cytoplasmic vesicle	IEA

MIM	HGNC	e!Ensembl
611417	29410	ENSG00000167037

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

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in brain, heart and testis. {ECO:0000269|PubMed:17509819}.

Sequence

MASAPAEAETRQRLLRTVKKEVKQIMEEAVTRKFVHEDSSHIISFCAAVEACVLHGLRRR
AAGFLRSNKIAALFMKVGKNFPPAEDLSRKVQDLEQLIESARNQIQGLQENVRKLPKLPN
LSPLAIKHLWIRTALFEKVLDKIVHYLVENSSKYYEKEALLMDPVDGPILASLLVGPCAL
EYTKMKTADHFWTDPSADELVQRHRIHSSHVRQDSPTKRPALCIQKRHSSGSMDDRPSLS
ARDYVESLHQNSRATLLYGKNNVLVQPRDDMEAVPGYLSLHQTADVMTLKWTPNQLMNGS
VGDLDYEKSVYWDYAMTIRLEEIVYLHCHQQVDSGGTVVLVSQDGIQRPPFRFPKGGHLL
QFLSCLENGLLPHGQLDPPLWSQRGKGKVFPKLRKRSPQGSAESTSSDKDDDEATDYVFR
IIYPGMQSEFVAPDFLGSTSSVSVGPAWMMVPAGRSMLVVARGSQWEPARWDTTLPTPSP
KEQPPMPQDLMDVSVSNLPSLWQPSPRKSSCSSCSQSGSADGSSTNGCNHERAPLKLLCD
NMKYQILSRAFYGWLAYCRHLSTVRTHLSALVNHMIVSPDLPCDAGQGLTARIWEQYLHD
STSYEEQELLRLIYYGGIQPEIRKAVWPFLLGHYQFGMTETERKEVDEQIHACYAQTMAE
WLGCEAIVRQRERESHAAALAKCSSGASLDSHLHRMLHRDSTISNESSQSCSSGRQNIRL
HSDSSSSTQVFESVDEVEQVEAEGRLEEKQPKIPNGNLVNGTCSPDSGHPSSHNFSSGLS
EHSEPSLSTEDSVLDAQRNTPTVLRPRDGSVDDRQSSEATTSQDEAPREELAVQDSLESD
LLANESMDEFMSITGSLDMALPEKDDVVMEGWRSSETEKHGQADSEDNLSEEPEMESLFP
ALASLAVTTSANEVSPVSSSGVTYSPELLDLYTVNLHRIEKDVQRCDRNYWYFTPANLEK
LRNIMCSYIWQHIEIGYVQGMCDLLAPLLVILDDEALAFSCFTELMKRMNQNFPHGGAMD
THFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELVYDDVFLVWETIWAA
KHVSSAHYVLFIALALVEVYRDIILENNMDFTDIIKFFNEMAERHNTKQVLKLARDLVYK
VQTLIENK

Sequence length

1148

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Sclerosing Cholangitis	Primary sclerosing cholangitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	38013317
Glioma	Inhibit	35484511
Heart Defects Congenital	Associate	27670201

SGSM1 (small G protein signaling modulator 1)