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

Gene ID: 9905, updated on 5-Aug-2022

Summary

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
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Genomic context

See SGSM2 in Genome Data Viewer
Location:
17p13.3
Exon count:
30
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2337501..2381054)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2224838..2269747)
105.20220307 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 uncharacterized LOC101927864 Neighboring gene MAX network transcriptional repressor Neighboring gene ZFP161 motif-containing MPRA enhancer 161/162 Neighboring gene uncharacterized LOC284009

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001098509.2NP_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
    O43147, Q8IXU4
    UniProtKB/TrEMBL
    B9A6J3
    Related
    ENSP00000415107.2, ENST00000426855.6
    Conserved Domains (3) summary
    smart00164
    Location:794962
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:42189
    RUN; RUN domain
  2. NM_001346700.2NP_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_014853.3NP_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:8391007
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:42189
    RUN; RUN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011524101.4XP_011522403.1  small G protein signaling modulator 2 isoform X1

    Conserved Domains (3) summary
    smart00164
    Location:8851053
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:90235
    RUN; RUN domain
  2. XM_011524102.4XP_011522404.1  small G protein signaling modulator 2 isoform X2

    Conserved Domains (3) summary
    smart00164
    Location:8851053
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:90235
    RUN; RUN domain
  3. XM_011524103.4XP_011522405.1  small G protein signaling modulator 2 isoform X3

    Conserved Domains (3) summary
    smart00164
    Location:8851053
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:90235
    RUN; RUN domain
  4. XM_011524107.4XP_011522409.1  small G protein signaling modulator 2 isoform X9

    Conserved Domains (3) summary
    smart00164
    Location:824992
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:90235
    RUN; RUN domain
  5. XM_047437209.1XP_047293165.1  small G protein signaling modulator 2 isoform X10

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

    Conserved Domains (3) summary
    smart00164
    Location:8401008
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:90235
    RUN; RUN domain
  7. XM_017025474.3XP_016880963.1  small G protein signaling modulator 2 isoform X7

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

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

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

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

    Conserved Domains (3) summary
    smart00164
    Location:8391007
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:42189
    RUN; RUN domain
  12. XM_047437213.1XP_047293169.1  small G protein signaling modulator 2 isoform X15

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

    Conserved Domains (3) summary
    smart00164
    Location:794962
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:42189
    RUN; RUN domain
  14. XM_047437210.1XP_047293166.1  small G protein signaling modulator 2 isoform X12

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

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

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

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

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

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

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

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

    Conserved Domains (1) summary
    pfam02759
    Location:90221
    RUN; RUN domain
  23. XM_011524110.4XP_011522412.1  small G protein signaling modulator 2 isoform X19

    Conserved Domains (1) summary
    pfam02759
    Location:90221
    RUN; RUN domain
  24. XM_011524104.3XP_011522406.1  small G protein signaling modulator 2 isoform X4

    Conserved Domains (3) summary
    smart00164
    Location:8691037
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:286454
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:74219
    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)