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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9905
Gene name	Small G protein signaling modulator 2
Gene symbol	SGSM2
Synonyms (NCBI Gene)	RUTBC1
Chromosome	17
Chromosome location	17p13.3
Summary	The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided b

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miRTarBase ID	miRNA	Experiments	Reference
MIRT690830	hsa-miR-3664-5p	HITS-CLIP	23313552
MIRT690829	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT690828	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT690827	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT690826	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT690825	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT690824	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT690823	hsa-miR-3192-5p	HITS-CLIP	23313552
MIRT690822	hsa-miR-3120-5p	HITS-CLIP	23313552
MIRT690820	hsa-miR-4522	HITS-CLIP	23313552
MIRT690821	hsa-miR-4524a-3p	HITS-CLIP	23313552
MIRT690819	hsa-miR-661	HITS-CLIP	23313552
MIRT690817	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT690818	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT690816	hsa-miR-8085	HITS-CLIP	23313552
MIRT690815	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT690814	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT690813	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT690812	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT690811	hsa-miR-6510-3p	HITS-CLIP	23313552
MIRT690830	hsa-miR-3664-5p	HITS-CLIP	23313552
MIRT690829	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT690828	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT690827	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT690826	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT690825	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT690824	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT690823	hsa-miR-3192-5p	HITS-CLIP	23313552
MIRT690822	hsa-miR-3120-5p	HITS-CLIP	23313552
MIRT690820	hsa-miR-4522	HITS-CLIP	23313552
MIRT690821	hsa-miR-4524a-3p	HITS-CLIP	23313552
MIRT690819	hsa-miR-661	HITS-CLIP	23313552
MIRT690817	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT690818	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT690816	hsa-miR-8085	HITS-CLIP	23313552
MIRT690815	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT690814	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT690813	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT690812	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT690811	hsa-miR-6510-3p	HITS-CLIP	23313552
MIRT1343878	hsa-miR-1207-5p	CLIP-seq
MIRT1343879	hsa-miR-1285	CLIP-seq
MIRT1343880	hsa-miR-1587	CLIP-seq
MIRT1343881	hsa-miR-298	CLIP-seq
MIRT1343882	hsa-miR-3184	CLIP-seq
MIRT1343883	hsa-miR-3187-5p	CLIP-seq
MIRT1343884	hsa-miR-342-5p	CLIP-seq
MIRT1343885	hsa-miR-378g	CLIP-seq
MIRT1343886	hsa-miR-3921	CLIP-seq
MIRT1343887	hsa-miR-423-5p	CLIP-seq
MIRT1343888	hsa-miR-4268	CLIP-seq
MIRT1343889	hsa-miR-4492	CLIP-seq
MIRT1343890	hsa-miR-4498	CLIP-seq
MIRT1343891	hsa-miR-4505	CLIP-seq
MIRT1343892	hsa-miR-4653-5p	CLIP-seq
MIRT1343893	hsa-miR-4656	CLIP-seq
MIRT1343894	hsa-miR-4664-5p	CLIP-seq
MIRT1343895	hsa-miR-4672	CLIP-seq
MIRT1343896	hsa-miR-4675	CLIP-seq
MIRT1343897	hsa-miR-4691-5p	CLIP-seq
MIRT1343898	hsa-miR-4718	CLIP-seq
MIRT1343899	hsa-miR-4722-5p	CLIP-seq
MIRT1343900	hsa-miR-4731-5p	CLIP-seq
MIRT1343901	hsa-miR-4736	CLIP-seq
MIRT1343902	hsa-miR-4741	CLIP-seq
MIRT1343903	hsa-miR-4763-3p	CLIP-seq
MIRT1343904	hsa-miR-485-5p	CLIP-seq
MIRT1343905	hsa-miR-612	CLIP-seq
MIRT1343906	hsa-miR-762	CLIP-seq
MIRT2101662	hsa-miR-1200	CLIP-seq
MIRT2101663	hsa-miR-1205	CLIP-seq
MIRT2101664	hsa-miR-1226	CLIP-seq
MIRT2101665	hsa-miR-124	CLIP-seq
MIRT2101666	hsa-miR-1245b-5p	CLIP-seq
MIRT2101667	hsa-miR-1253	CLIP-seq
MIRT2101668	hsa-miR-146b-3p	CLIP-seq
MIRT2101669	hsa-miR-1909	CLIP-seq
MIRT1343881	hsa-miR-298	CLIP-seq
MIRT2101670	hsa-miR-3142	CLIP-seq
MIRT2101671	hsa-miR-3144-5p	CLIP-seq
MIRT2101672	hsa-miR-3157-3p	CLIP-seq
MIRT2101673	hsa-miR-3165	CLIP-seq
MIRT2101674	hsa-miR-3173-5p	CLIP-seq
MIRT2101675	hsa-miR-3190	CLIP-seq
MIRT2101676	hsa-miR-3191	CLIP-seq
MIRT2101677	hsa-miR-3202	CLIP-seq
MIRT2101678	hsa-miR-34a	CLIP-seq
MIRT2101679	hsa-miR-34c-5p	CLIP-seq
MIRT2101680	hsa-miR-3614-3p	CLIP-seq
MIRT2101681	hsa-miR-3714	CLIP-seq
MIRT2101682	hsa-miR-384	CLIP-seq
MIRT2101683	hsa-miR-3910	CLIP-seq
MIRT2101684	hsa-miR-4251	CLIP-seq
MIRT2101685	hsa-miR-4269	CLIP-seq
MIRT2101686	hsa-miR-4314	CLIP-seq
MIRT2101687	hsa-miR-4324	CLIP-seq
MIRT2101688	hsa-miR-4446-3p	CLIP-seq
MIRT2101689	hsa-miR-4491	CLIP-seq
MIRT1343889	hsa-miR-4492	CLIP-seq
MIRT1343890	hsa-miR-4498	CLIP-seq
MIRT2101690	hsa-miR-449a	CLIP-seq
MIRT2101691	hsa-miR-449b	CLIP-seq
MIRT2101692	hsa-miR-4533	CLIP-seq
MIRT2101693	hsa-miR-4642	CLIP-seq
MIRT2101694	hsa-miR-4652-5p	CLIP-seq
MIRT2101695	hsa-miR-4657	CLIP-seq
MIRT2101696	hsa-miR-4685-5p	CLIP-seq
MIRT2101697	hsa-miR-4701-5p	CLIP-seq
MIRT2101698	hsa-miR-4732-3p	CLIP-seq
MIRT2101699	hsa-miR-4733-3p	CLIP-seq
MIRT2101700	hsa-miR-4757-5p	CLIP-seq
MIRT2101701	hsa-miR-4793-5p	CLIP-seq
MIRT2101702	hsa-miR-486-3p	CLIP-seq
MIRT2101703	hsa-miR-506	CLIP-seq
MIRT2101704	hsa-miR-544b	CLIP-seq
MIRT2101705	hsa-miR-588	CLIP-seq
MIRT2101706	hsa-miR-604	CLIP-seq
MIRT2101707	hsa-miR-636	CLIP-seq
MIRT1343906	hsa-miR-762	CLIP-seq
MIRT2101708	hsa-miR-874	CLIP-seq
MIRT2101663	hsa-miR-1205	CLIP-seq
MIRT2101664	hsa-miR-1226	CLIP-seq
MIRT2326053	hsa-miR-1229	CLIP-seq
MIRT2101665	hsa-miR-124	CLIP-seq
MIRT2326054	hsa-miR-1266	CLIP-seq
MIRT2326055	hsa-miR-1287	CLIP-seq
MIRT2101668	hsa-miR-146b-3p	CLIP-seq
MIRT2101669	hsa-miR-1909	CLIP-seq
MIRT2326056	hsa-miR-3135b	CLIP-seq
MIRT2326057	hsa-miR-3154	CLIP-seq
MIRT2101672	hsa-miR-3157-3p	CLIP-seq
MIRT2101674	hsa-miR-3173-5p	CLIP-seq
MIRT2326058	hsa-miR-346	CLIP-seq
MIRT2101680	hsa-miR-3614-3p	CLIP-seq
MIRT2326059	hsa-miR-3620	CLIP-seq
MIRT2326060	hsa-miR-3664-3p	CLIP-seq
MIRT2101681	hsa-miR-3714	CLIP-seq
MIRT2326061	hsa-miR-378	CLIP-seq
MIRT2326062	hsa-miR-378b	CLIP-seq
MIRT2326063	hsa-miR-378c	CLIP-seq
MIRT2326064	hsa-miR-378d	CLIP-seq
MIRT2326065	hsa-miR-378e	CLIP-seq
MIRT2326066	hsa-miR-378f	CLIP-seq
MIRT2326067	hsa-miR-378h	CLIP-seq
MIRT2326068	hsa-miR-378i	CLIP-seq
MIRT2101683	hsa-miR-3910	CLIP-seq
MIRT2326069	hsa-miR-3977	CLIP-seq
MIRT2326070	hsa-miR-422a	CLIP-seq
MIRT2326071	hsa-miR-4257	CLIP-seq
MIRT1343888	hsa-miR-4268	CLIP-seq
MIRT2101685	hsa-miR-4269	CLIP-seq
MIRT2326072	hsa-miR-4270	CLIP-seq
MIRT2326073	hsa-miR-4292	CLIP-seq
MIRT2326074	hsa-miR-4441	CLIP-seq
MIRT2326075	hsa-miR-4475	CLIP-seq
MIRT2326076	hsa-miR-4518	CLIP-seq
MIRT1343895	hsa-miR-4672	CLIP-seq
MIRT2326077	hsa-miR-4719	CLIP-seq
MIRT2101698	hsa-miR-4732-3p	CLIP-seq
MIRT2101699	hsa-miR-4733-3p	CLIP-seq
MIRT2326078	hsa-miR-4747-3p	CLIP-seq
MIRT2101703	hsa-miR-506	CLIP-seq
MIRT2326079	hsa-miR-548aa	CLIP-seq
MIRT2101706	hsa-miR-604	CLIP-seq
MIRT2326080	hsa-miR-647	CLIP-seq
MIRT2101708	hsa-miR-874	CLIP-seq
MIRT2101665	hsa-miR-124	CLIP-seq
MIRT2101681	hsa-miR-3714	CLIP-seq
MIRT2101683	hsa-miR-3910	CLIP-seq
MIRT2101685	hsa-miR-4269	CLIP-seq
MIRT2101698	hsa-miR-4732-3p	CLIP-seq
MIRT2101703	hsa-miR-506	CLIP-seq
MIRT2101663	hsa-miR-1205	CLIP-seq
MIRT1343878	hsa-miR-1207-5p	CLIP-seq
MIRT1343879	hsa-miR-1285	CLIP-seq
MIRT2621709	hsa-miR-1293	CLIP-seq
MIRT1343880	hsa-miR-1587	CLIP-seq
MIRT2621710	hsa-miR-2392	CLIP-seq
MIRT1343883	hsa-miR-3187-5p	CLIP-seq
MIRT2621711	hsa-miR-323-5p	CLIP-seq
MIRT1343884	hsa-miR-342-5p	CLIP-seq
MIRT2101678	hsa-miR-34a	CLIP-seq
MIRT2101679	hsa-miR-34c-5p	CLIP-seq
MIRT2621712	hsa-miR-3665	CLIP-seq
MIRT2621713	hsa-miR-3677-3p	CLIP-seq
MIRT1343885	hsa-miR-378g	CLIP-seq
MIRT2621714	hsa-miR-4274	CLIP-seq
MIRT2101688	hsa-miR-4446-3p	CLIP-seq
MIRT2621715	hsa-miR-4483	CLIP-seq
MIRT1343889	hsa-miR-4492	CLIP-seq
MIRT1343890	hsa-miR-4498	CLIP-seq
MIRT2101690	hsa-miR-449a	CLIP-seq
MIRT2101691	hsa-miR-449b	CLIP-seq
MIRT1343891	hsa-miR-4505	CLIP-seq
MIRT2621716	hsa-miR-4527	CLIP-seq
MIRT2621717	hsa-miR-455-3p	CLIP-seq
MIRT2621718	hsa-miR-4636	CLIP-seq
MIRT2621719	hsa-miR-4645-5p	CLIP-seq
MIRT1343893	hsa-miR-4656	CLIP-seq
MIRT1343894	hsa-miR-4664-5p	CLIP-seq
MIRT2621720	hsa-miR-4673	CLIP-seq
MIRT1343896	hsa-miR-4675	CLIP-seq
MIRT1343902	hsa-miR-4741	CLIP-seq
MIRT1343903	hsa-miR-4763-3p	CLIP-seq
MIRT2101702	hsa-miR-486-3p	CLIP-seq
MIRT2101706	hsa-miR-604	CLIP-seq
MIRT1343905	hsa-miR-612	CLIP-seq
MIRT2621721	hsa-miR-657	CLIP-seq
MIRT1343906	hsa-miR-762	CLIP-seq
MIRT2101663	hsa-miR-1205	CLIP-seq
MIRT1343878	hsa-miR-1207-5p	CLIP-seq
MIRT1343879	hsa-miR-1285	CLIP-seq
MIRT1343880	hsa-miR-1587	CLIP-seq
MIRT1343883	hsa-miR-3187-5p	CLIP-seq
MIRT2101678	hsa-miR-34a	CLIP-seq
MIRT2101679	hsa-miR-34c-5p	CLIP-seq
MIRT2621712	hsa-miR-3665	CLIP-seq
MIRT1343885	hsa-miR-378g	CLIP-seq
MIRT2101688	hsa-miR-4446-3p	CLIP-seq
MIRT1343889	hsa-miR-4492	CLIP-seq
MIRT1343890	hsa-miR-4498	CLIP-seq
MIRT2101690	hsa-miR-449a	CLIP-seq
MIRT2101691	hsa-miR-449b	CLIP-seq
MIRT1343891	hsa-miR-4505	CLIP-seq
MIRT2621719	hsa-miR-4645-5p	CLIP-seq
MIRT1343893	hsa-miR-4656	CLIP-seq
MIRT2621720	hsa-miR-4673	CLIP-seq
MIRT1343896	hsa-miR-4675	CLIP-seq
MIRT1343902	hsa-miR-4741	CLIP-seq
MIRT1343903	hsa-miR-4763-3p	CLIP-seq
MIRT2101702	hsa-miR-486-3p	CLIP-seq
MIRT2101706	hsa-miR-604	CLIP-seq
MIRT1343905	hsa-miR-612	CLIP-seq
MIRT2621721	hsa-miR-657	CLIP-seq
MIRT1343906	hsa-miR-762	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	IMP	21808068, 26620560
GO:0005737	Component	Cytoplasm	IDA	26620560
GO:0005737	Component	Cytoplasm	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	21808068, 26620560
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034499	Process	Late endosome to Golgi transport	IMP	21808068
GO:0042470	Component	Melanosome	IDA	26620560
GO:0042470	Component	Melanosome	IEA

MIM	HGNC	e!Ensembl
611418	29026	ENSG00000141258

O43147

Protein name

Small G protein signaling modulator 2 (RUN and TBC1 domain-containing protein 1)

Protein function

Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:21808068, PubMed:26620560). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02759	RUN	42 → 189	RUN domain	Family
PF12068	PH_RBD	257 → 392	Rab-binding domain (RBD)	Domain
PF00566	RabGAP-TBC	781 → 962	Rab-GTPase-TBC domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:17509819}.

Sequence

MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAA
GFLRSDKMAALFTKVGKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAP
ALSPQALKHVWVRTALIEKVLDKVVQYLAENCSKYYEKEALLADPVFGPILASLLVGPCA
LEYTKLKTADHYWTDPSADELVQRHRIRGPPTRQDSPAKRPALGIRKRHSSGSASEDRLA
ACARECVESLHQNSRTRLLYGKNHVLVQPKEDMEAVPGYLSLHQSAESLTLKWTPNQLMN
GTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHL
LSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSVDMEEMGTGRATDYVFRI
IYPGHRHEHNAGDMIEMQGFGPSLPAWHLEPLCSQGSSCLSCSSSSSPHATPSHCSCIPD
RLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSVIPPDRPPGASAGLTK
DVWSKYQKDKKNYKELELLRQVYYGGIEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAVVA
ARYQQVLAEWKACEVVVRQREREAHPATRTKFSSGSSIDSHVQRLIHRDSTISNDVFISV
DDLEPPEPQDPEDSRPKPEQEAGPGTPGTAVVEQQHSVEFDSPDSGLPSSRNYSVASGIQ
SSLDEGQSVGFEEEDGGGEEGSSGPGPAAHTLREPQDPSQEKPQAGELEAGEELAAVCAA
AYTIELLDTVALNLHRIDKDVQRCDRNYWYFTPPNLERLRDVMCSYVWEHLDVGYVQGMC
DLLAPLLVTLDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMH
QNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYRE
IIRDNNMDFTDIIKFFNERAEHHDAQEILRIARDLVHKVQMLIENK

Sequence length

1006

Interactions

View interactions

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	30744493	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	35264562	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	33431054	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30744493	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	35264562	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	33386701	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Inhibit	35264562	★★★★★ ★☆☆☆☆ Found in Text Mining only

SGSM2 (small G protein signaling modulator 2)