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

Gene ID: 9905, updated on 26-May-2016
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 HPRD:15284; MIM:611418; Vega:OTTHUMG00000177637
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RUTBC1
Orthologs
Location:
17p13.3
Exon count:
28
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (2337512..2381074)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2240806..2284353)

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 uncharacterized LOC105371488 Neighboring gene MAX network transcriptional repressor Neighboring gene uncharacterized LOC284009

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Markers

Homology

Clone Names

  • KIAA0397

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
late endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
small G protein signaling modulator 2
Names
RUN and TBC1 domain containing 1
RUN and TBC1 domain-containing protein 1
small G protein signaling modulator 2 protein

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.

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001091979.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AB007857, BC029251
    Consensus CDS
    CCDS45570.1
    UniProtKB/Swiss-Prot
    O43147
    UniProtKB/TrEMBL
    B9A6J3
    Related
    ENSP00000415107, OTTHUMP00000257291, ENST00000426855, OTTHUMT00000438186
    Conserved Domains (3) summary
    smart00164
    Location:794962
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:42189
    RUN; RUN domain
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.
  2. NM_014853.2NP_055668.2  small G protein signaling modulator 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB007857, BC039204
    Consensus CDS
    CCDS32526.1
    UniProtKB/Swiss-Prot
    O43147
    Related
    ENSP00000268989, OTTHUMP00000257290, ENST00000268989, OTTHUMT00000438185
    Conserved Domains (3) summary
    smart00164
    Location:8391007
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:42189
    RUN; RUN domain
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    2337512..2381074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524101.1XP_011522403.1  

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

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

    Conserved Domains (3) summary
    smart00164
    Location:824992
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:90235
    RUN; RUN domain
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.
  4. XM_011524105.1XP_011522407.1  

    Conserved Domains (3) summary
    smart00164
    Location:8401008
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:90235
    RUN; RUN domain
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.
  5. XM_011524102.1XP_011522404.1  

    Conserved Domains (3) summary
    smart00164
    Location:8851053
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:90235
    RUN; RUN domain
    cd15784
    Location:302470
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.
  6. XM_011524109.1XP_011522411.1  

    Conserved Domains (1) summary
    pfam02759
    Location:90221
    RUN; RUN domain
  7. XM_011524110.1XP_011522412.1  

    Conserved Domains (1) summary
    pfam02759
    Location:90221
    RUN; RUN domain
  8. XM_011524106.1XP_011522408.1  

    Conserved Domains (3) summary
    smart00164
    Location:8391007
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:42189
    RUN; RUN domain
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.
  9. XM_011524108.1XP_011522410.1  

    Related
    ENSP00000459126, OTTHUMP00000257292, ENST00000574563, OTTHUMT00000438187
    Conserved Domains (3) summary
    smart00164
    Location:794962
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:42189
    RUN; RUN domain
    cd15784
    Location:256424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins.
  10. XM_011524104.1XP_011522406.1  

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

RNA

  1. XR_934127.1 RNA Sequence

  2. XR_934128.1 RNA Sequence

  3. XR_934129.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    2249759..2291729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)