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    SGSM2 small G protein signaling modulator 2 [ Homo sapiens (human) ]

    Gene ID: 9905, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SGSM2provided by HGNC
    Official Full Name
    small G protein signaling modulator 2provided by HGNC
    Primary source
    HGNC:HGNC:29026
    See related
    Ensembl:ENSG00000141258 MIM:611418; AllianceGenome:HGNC:29026
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RUTBC1
    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 by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in brain (RPKM 17.5), prostate (RPKM 14.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SGSM2 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2337501..2381054)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2224838..2269747)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2240795..2284348)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TSR1 ribosome maturation factor Neighboring gene small nucleolar RNA, C/D box 91B Neighboring gene small nucleolar RNA, C/D box 91A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2251000-2251937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11491 Neighboring gene uncharacterized LOC101927864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2272684-2273268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2273269-2273851 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2273852-2274435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2289277-2290101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2291629-2292130 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2296137-2296704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2296705-2297271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7998 Neighboring gene MAX network transcriptional repressor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2301897-2302468 Neighboring gene hESC enhancers GRCh37_chr17:2302469-2303038 and GRCh37_chr17:2303039-2303609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11493 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2305321-2305891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2305892-2306461 Neighboring gene uncharacterized LOC284009

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Small G protein signalling modulator 2 (SGSM2) is involved in oestrogen receptor-positive breast cancer metastasis through enhancement of migratory cell adhesion via interaction with E-cadherin. Lin JH, et al. Cell Adh Migr, 2019 Dec. PMID 30744493, Free PMC Article
    2. SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition. Su X, et al. Cell Death Dis, 2022 Mar 9. PMID 35264562, Free PMC Article
    3. Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression. Geng R, et al. World J Biol Psychiatry, 2020 Feb. PMID 30489189
    4. Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. Yang H, et al. Genomics, 2007 Aug. PMID 17509819
    5. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Strawbridge RJ, et al. Diabetes, 2011 Oct. PMID 21873549, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.
      Title: SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.
    2. Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression.
      Title: Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression.
    3. Increased expression of SGSM2 is associated with estrogen receptor-positive breast cancer metastasis.
      Title: Small G protein signalling modulator 2 (SGSM2) is involved in oestrogen receptor-positive breast cancer metastasis through enhancement of migratory cell adhesion via interaction with E-cadherin.
    4. Data suggest RUTBC1/SGSM2 in melanocytes functions as physiological GTPase-activating protein for Rab32/Rab38 in regulation of transport of melanogenic enzymes (tyrosinase, tyrosinase-related protein 1, dopachrome isomerase) into melanosomes.
      Title: RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes.
    5. RUTBC1 is a Tre2/Bub2/Cdc16 domain-containing protein that binds to Rab9A-GTP both in vitro and in cultured cells, but is not a GTPase-activating protein for Rab9A.
      Title: RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins.
    6. Identification of novel protein SGSM2 which modulate small G protein (RAP and RAB)-mediated signaling pathway
      Title: Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    EBI GWAS Catalog
    Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0397

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in late endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in melanosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    small G protein signaling modulator 2
    Names
    RUN and TBC1 domain containing 1
    small G protein signaling modulator 2 protein
    NP_001091979.1
    NP_001333629.1
    NP_055668.2
    XP_011522403.1
    XP_011522404.1
    XP_011522405.1
    XP_011522406.1
    XP_011522407.1
    XP_011522408.1
    XP_011522409.1
    XP_011522410.1
    XP_011522411.1
    XP_011522412.1
    XP_016880963.1
    XP_016880964.1
    XP_047293165.1
    XP_047293166.1
    XP_047293167.1
    XP_047293168.1
    XP_047293169.1
    XP_047293170.1
    XP_047293171.1
    XP_047293172.1
    XP_047293173.1
    XP_047293174.1
    XP_047293175.1
    XP_047293176.1
    XP_054174037.1
    XP_054174038.1
    XP_054174039.1
    XP_054174040.1
    XP_054174041.1
    XP_054174042.1
    XP_054174043.1
    XP_054174044.1
    XP_054174045.1
    XP_054174046.1
    XP_054174047.1
    XP_054174048.1
    XP_054174049.1
    XP_054174050.1
    XP_054174051.1
    XP_054174052.1
    XP_054174053.1
    XP_054174054.1
    XP_054174055.1
    XP_054174056.1
    XP_054174057.1
    XP_054174058.1
    XP_054174059.1
    XP_054174060.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051965.1 RefSeqGene

      Range
      4988..48541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098509.2 → NP_001091979.1  small G protein signaling modulator 2 isoform 2

      See identical proteins and their annotated locations for NP_001091979.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB007857, AL450226, BC029251
      Consensus CDS
      CCDS45570.1
      UniProtKB/Swiss-Prot
      A5LGW2, B4DH69, O43147, Q49AC2, Q6ZUY2, Q8IXU4
      UniProtKB/TrEMBL
      B9A6J3
      Related
      ENSP00000415107.2, ENST00000426855.6
      Conserved Domains (3) summary
      smart00164
      Location:794 → 962
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:256 → 424
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:42 → 189
      RUN; RUN domain

    2. NM_001346700.2 → NP_001333629.1  small G protein signaling modulator 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate splice junction in the 3' coding sequence compared to variant 1. The resulting isoform (3) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB007857, AC006435, AK294955, AL450226
      Consensus CDS
      CCDS86557.1
      UniProtKB/Swiss-Prot
      O43147
      Related
      ENSP00000459126.1, ENST00000574563.5

    3. NM_014853.3 → NP_055668.2  small G protein signaling modulator 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB007857, AL450226, BC039204
      Consensus CDS
      CCDS32526.1
      UniProtKB/Swiss-Prot
      O43147
      Related
      ENSP00000268989.3, ENST00000268989.8
      Conserved Domains (3) summary
      smart00164
      Location:839 → 1007
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:256 → 424
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:42 → 189
      RUN; RUN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      2337501..2381054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524101.4 → XP_011522403.1  small G protein signaling modulator 2 isoform X1

      Conserved Domains (3) summary
      smart00164
      Location:885 → 1053
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:302 → 470
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:90 → 235
      RUN; RUN domain

    2. XM_011524102.4 → XP_011522404.1  small G protein signaling modulator 2 isoform X2

      Conserved Domains (3) summary
      smart00164
      Location:885 → 1053
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:302 → 470
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:90 → 235
      RUN; RUN domain

    3. XM_011524103.4 → XP_011522405.1  small G protein signaling modulator 2 isoform X3

      Conserved Domains (3) summary
      smart00164
      Location:885 → 1053
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:302 → 470
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:90 → 235
      RUN; RUN domain

    4. XM_011524107.4 → XP_011522409.1  small G protein signaling modulator 2 isoform X9

      Conserved Domains (3) summary
      smart00164
      Location:824 → 992
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:302 → 470
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:90 → 235
      RUN; RUN domain

    5. XM_047437209.1 → XP_047293165.1  small G protein signaling modulator 2 isoform X10

    6. XM_011524105.4 → XP_011522407.1  small G protein signaling modulator 2 isoform X5

      Conserved Domains (3) summary
      smart00164
      Location:840 → 1008
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:302 → 470
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:90 → 235
      RUN; RUN domain

    7. XM_017025474.3 → XP_016880963.1  small G protein signaling modulator 2 isoform X7

    8. XM_017025475.3 → XP_016880964.1  small G protein signaling modulator 2 isoform X8

    9. XM_047437211.1 → XP_047293167.1  small G protein signaling modulator 2 isoform X13

    10. XM_047437212.1 → XP_047293168.1  small G protein signaling modulator 2 isoform X14

    11. XM_011524106.2 → XP_011522408.1  small G protein signaling modulator 2 isoform X6

      Conserved Domains (3) summary
      smart00164
      Location:839 → 1007
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:256 → 424
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:42 → 189
      RUN; RUN domain

    12. XM_047437213.1 → XP_047293169.1  small G protein signaling modulator 2 isoform X15

    13. XM_011524108.2 → XP_011522410.1  small G protein signaling modulator 2 isoform X11

      Conserved Domains (3) summary
      smart00164
      Location:794 → 962
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:256 → 424
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:42 → 189
      RUN; RUN domain

    14. XM_047437210.1 → XP_047293166.1  small G protein signaling modulator 2 isoform X12

    15. XM_047437214.1 → XP_047293170.1  small G protein signaling modulator 2 isoform X16

    16. XM_047437215.1 → XP_047293171.1  small G protein signaling modulator 2 isoform X17

    17. XM_047437217.1 → XP_047293173.1  small G protein signaling modulator 2 isoform X21

    18. XM_047437218.1 → XP_047293174.1  small G protein signaling modulator 2 isoform X22

    19. XM_047437216.1 → XP_047293172.1  small G protein signaling modulator 2 isoform X20

    20. XM_047437219.1 → XP_047293175.1  small G protein signaling modulator 2 isoform X22

    21. XM_047437220.1 → XP_047293176.1  small G protein signaling modulator 2 isoform X23

    22. XM_011524109.4 → XP_011522411.1  small G protein signaling modulator 2 isoform X18

      Conserved Domains (1) summary
      pfam02759
      Location:90 → 221
      RUN; RUN domain

    23. XM_011524110.4 → XP_011522412.1  small G protein signaling modulator 2 isoform X19

      Conserved Domains (1) summary
      pfam02759
      Location:90 → 221
      RUN; RUN domain

    24. XM_011524104.3 → XP_011522406.1  small G protein signaling modulator 2 isoform X4

      Conserved Domains (3) summary
      smart00164
      Location:869 → 1037
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:286 → 454
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:74 → 219
      RUN; RUN domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      2224838..2269747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318062.1 → XP_054174037.1  small G protein signaling modulator 2 isoform X1

    2. XM_054318063.1 → XP_054174038.1  small G protein signaling modulator 2 isoform X2

    3. XM_054318064.1 → XP_054174039.1  small G protein signaling modulator 2 isoform X3

    4. XM_054318070.1 → XP_054174045.1  small G protein signaling modulator 2 isoform X9

    5. XM_054318071.1 → XP_054174046.1  small G protein signaling modulator 2 isoform X10

    6. XM_054318066.1 → XP_054174041.1  small G protein signaling modulator 2 isoform X5

    7. XM_054318068.1 → XP_054174043.1  small G protein signaling modulator 2 isoform X7

    8. XM_054318069.1 → XP_054174044.1  small G protein signaling modulator 2 isoform X8

    9. XM_054318074.1 → XP_054174049.1  small G protein signaling modulator 2 isoform X13

    10. XM_054318075.1 → XP_054174050.1  small G protein signaling modulator 2 isoform X14

    11. XM_054318067.1 → XP_054174042.1  small G protein signaling modulator 2 isoform X6

    12. XM_054318076.1 → XP_054174051.1  small G protein signaling modulator 2 isoform X15

    13. XM_054318072.1 → XP_054174047.1  small G protein signaling modulator 2 isoform X11

    14. XM_054318073.1 → XP_054174048.1  small G protein signaling modulator 2 isoform X12

    15. XM_054318077.1 → XP_054174052.1  small G protein signaling modulator 2 isoform X16

    16. XM_054318078.1 → XP_054174053.1  small G protein signaling modulator 2 isoform X17

    17. XM_054318082.1 → XP_054174057.1  small G protein signaling modulator 2 isoform X21

    18. XM_054318083.1 → XP_054174058.1  small G protein signaling modulator 2 isoform X22

    19. XM_054318081.1 → XP_054174056.1  small G protein signaling modulator 2 isoform X20

    20. XM_054318084.1 → XP_054174059.1  small G protein signaling modulator 2 isoform X22

    21. XM_054318085.1 → XP_054174060.1  small G protein signaling modulator 2 isoform X23

    22. XM_054318079.1 → XP_054174054.1  small G protein signaling modulator 2 isoform X18

    23. XM_054318080.1 → XP_054174055.1  small G protein signaling modulator 2 isoform X19

    24. XM_054318065.1 → XP_054174040.1  small G protein signaling modulator 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43147.4 GenPept UniProtKB/Swiss-Prot:O43147

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