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    RGS12 regulator of G protein signaling 12 [ Homo sapiens (human) ]

    Gene ID: 6002, updated on 13-Feb-2019

    Summary

    Official Symbol
    RGS12provided by HGNC
    Official Full Name
    regulator of G protein signaling 12provided by HGNC
    Primary source
    HGNC:HGNC:9994
    See related
    Ensembl:ENSG00000159788 MIM:602512
    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
    Summary
    This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in skin (RPKM 3.7), brain (RPKM 3.2) and 24 other tissues See more
    Orthologs

    Genomic context

    See RGS12 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (3292978..3439913)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3315874..3441640)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 33 pseudogene Neighboring gene huntingtin Neighboring gene Myb/SANT DNA binding domain containing 1 Neighboring gene X antigen family member 3 pseudogene Neighboring gene ribosomal protein L7a pseudogene 29 Neighboring gene uncharacterized LOC105374354 Neighboring gene HGF activator

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp761K1617, DKFZp761K1817

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
     
    GTPase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    condensed nuclear chromosome TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    colocalizes_with synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    regulator of G-protein signaling 12
    Names
    regulator of G-protein signalling 12

    NCBI Reference Sequences (RefSeq)

    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_029903.1 RefSeqGene

      Range
      5001..130767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002926.3NP_002917.1  regulator of G-protein signaling 12 isoform 2

      See identical proteins and their annotated locations for NP_002917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript. It differs in the 3' UTR and coding region, compared to variant 1. These differences result in an isoform (2) with a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF030111, AL590235, AL645949
      Consensus CDS
      CCDS3367.1
      UniProtKB/Swiss-Prot
      O14924
      Related
      ENSP00000372238.3, ENST00000382788.7
      Conserved Domains (9) summary
      smart00455
      Location:10351104
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:9631035
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      cd08742
      Location:716830
      RGS_RGS12; Regulator of G protein signaling (RGS) domain found in the RGS12 protein
      cd00992
      Location:2096
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13162
      Location:228359
      PTB_RGS12; Regulator of G-protein signaling 12 Phosphotyrosine-binding (PTB) PH-like fold
      pfam02188
      Location:11881209
      GoLoco; GoLoco motif
      pfam16611
      Location:11061176
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:12541374
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:836933
      RGS12_us1; Unstructured region of RGS12
    2. NM_198227.1NP_937870.1  regulator of G-protein signaling 12 isoform 3

      See identical proteins and their annotated locations for NP_937870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF030109, AF030112, BM984992, CB242608
      Consensus CDS
      CCDS3368.1
      UniProtKB/Swiss-Prot
      O14924
      Related
      ENSP00000342133.4, ENST00000338806.4
      Conserved Domains (7) summary
      smart00455
      Location:387456
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:315387
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      cd08742
      Location:68182
      RGS_RGS12; Regulator of G protein signaling (RGS) domain found in the RGS12 protein
      pfam02188
      Location:540561
      GoLoco; GoLoco motif
      pfam16611
      Location:458528
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:606726
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:188285
      RGS12_us1; Unstructured region of RGS12
    3. NM_198229.2NP_937872.1  regulator of G-protein signaling 12 isoform 1

      See identical proteins and their annotated locations for NP_937872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF030111, AL590235, AL645949, BE048490
      Consensus CDS
      CCDS3366.1
      UniProtKB/Swiss-Prot
      O14924
      Related
      ENSP00000339381.5, ENST00000344733.9
      Conserved Domains (9) summary
      smart00455
      Location:10351104
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:9631035
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      cd08742
      Location:716830
      RGS_RGS12; Regulator of G protein signaling (RGS) domain found in the RGS12 protein
      cd00992
      Location:2096
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13162
      Location:228359
      PTB_RGS12; Regulator of G-protein signaling 12 Phosphotyrosine-binding (PTB) PH-like fold
      pfam02188
      Location:11881209
      GoLoco; GoLoco motif
      pfam16611
      Location:11061176
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:12541374
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:836933
      RGS12_us1; Unstructured region of RGS12

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      3292978..3439913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713905.1XP_006713968.1  regulator of G-protein signaling 12 isoform X1

      See identical proteins and their annotated locations for XP_006713968.1

      UniProtKB/Swiss-Prot
      O14924
      Related
      ENSP00000338509.4, ENST00000336727.7
      Conserved Domains (9) summary
      smart00455
      Location:10351104
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:9631035
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      cd08742
      Location:716830
      RGS_RGS12; Regulator of G protein signaling (RGS) domain found in the RGS12 protein
      cd00992
      Location:2096
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13162
      Location:228359
      PTB_RGS12; Regulator of G-protein signaling 12 Phosphotyrosine-binding (PTB) PH-like fold
      pfam02188
      Location:11881209
      GoLoco; GoLoco motif
      pfam16611
      Location:11061176
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:12541374
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:836933
      RGS12_us1; Unstructured region of RGS12
    2. XM_006713906.2XP_006713969.1  regulator of G-protein signaling 12 isoform X2

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (7) summary
      smart00455
      Location:10351104
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:9631035
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      cd08742
      Location:716830
      RGS_RGS12; Regulator of G protein signaling (RGS) domain found in the RGS12 protein
      cd00992
      Location:2096
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13162
      Location:228359
      PTB_RGS12; Regulator of G-protein signaling 12 Phosphotyrosine-binding (PTB) PH-like fold
      pfam16611
      Location:11061137
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16613
      Location:836933
      RGS12_us1; Unstructured region of RGS12
    3. XM_017008530.1XP_016864019.1  regulator of G-protein signaling 12 isoform X3

    4. XM_011513543.2XP_011511845.1  regulator of G-protein signaling 12 isoform X4

      See identical proteins and their annotated locations for XP_011511845.1

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (7) summary
      smart00455
      Location:234303
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:162234
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      pfam02188
      Location:387408
      GoLoco; GoLoco motif
      pfam16611
      Location:305375
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:453573
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:35132
      RGS12_us1; Unstructured region of RGS12
      cl02565
      Location:129
      RGS; Regulator of G protein signaling (RGS) domain superfamily
    5. XM_017008529.2XP_016864018.1  regulator of G-protein signaling 12 isoform X1

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (9) summary
      smart00455
      Location:10351104
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:9631035
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      cd08742
      Location:716830
      RGS_RGS12; Regulator of G protein signaling (RGS) domain found in the RGS12 protein
      cd00992
      Location:2096
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd13162
      Location:228359
      PTB_RGS12; Regulator of G-protein signaling 12 Phosphotyrosine-binding (PTB) PH-like fold
      pfam02188
      Location:11881209
      GoLoco; GoLoco motif
      pfam16611
      Location:11061176
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:12541374
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:836933
      RGS12_us1; Unstructured region of RGS12
    6. XM_017008531.2XP_016864020.1  regulator of G-protein signaling 12 isoform X4

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (7) summary
      smart00455
      Location:234303
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:162234
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      pfam02188
      Location:387408
      GoLoco; GoLoco motif
      pfam16611
      Location:305375
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:453573
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:35132
      RGS12_us1; Unstructured region of RGS12
      cl02565
      Location:129
      RGS; Regulator of G protein signaling (RGS) domain superfamily
    7. XM_017008532.1XP_016864021.1  regulator of G-protein signaling 12 isoform X4

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (7) summary
      smart00455
      Location:234303
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:162234
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      pfam02188
      Location:387408
      GoLoco; GoLoco motif
      pfam16611
      Location:305375
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:453573
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:35132
      RGS12_us1; Unstructured region of RGS12
      cl02565
      Location:129
      RGS; Regulator of G protein signaling (RGS) domain superfamily
    8. XM_017008534.1XP_016864023.1  regulator of G-protein signaling 12 isoform X5

    9. XM_006713907.1XP_006713970.1  regulator of G-protein signaling 12 isoform X4

      See identical proteins and their annotated locations for XP_006713970.1

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (7) summary
      smart00455
      Location:234303
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:162234
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      pfam02188
      Location:387408
      GoLoco; GoLoco motif
      pfam16611
      Location:305375
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:453573
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:35132
      RGS12_us1; Unstructured region of RGS12
      cl02565
      Location:129
      RGS; Regulator of G protein signaling (RGS) domain superfamily
    10. XM_017008533.1XP_016864022.1  regulator of G-protein signaling 12 isoform X4

      UniProtKB/Swiss-Prot
      O14924
      Conserved Domains (7) summary
      smart00455
      Location:234303
      RBD; Raf-like Ras-binding domain
      cd01817
      Location:162234
      RGS12_RBD; Ubiquitin domain of RGS12 and RGS14
      pfam02188
      Location:387408
      GoLoco; GoLoco motif
      pfam16611
      Location:305375
      RGS12_us2; Unstructured region between RBD and GoLoco
      pfam16612
      Location:453573
      RGS12_usC; C-terminal unstructured region of RGS12
      pfam16613
      Location:35132
      RGS12_us1; Unstructured region of RGS12
      cl02565
      Location:129
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    RNA

    1. XR_002959745.1 RNA Sequence

    2. XR_427479.2 RNA Sequence

    3. XR_924987.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198230.1: Suppressed sequence

      Description
      NM_198230.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_198430.1: Suppressed sequence

      Description
      NM_198430.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_198432.1: Suppressed sequence

      Description
      NM_198432.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    4. NM_198587.1: Suppressed sequence

      Description
      NM_198587.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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