1. Gene
  2. RGS12 - regulator of G protein signaling 12 Gene

RGS12 - regulator of G protein signaling 12 Gene

Homo sapiens
Gene ID: 6002 | Gene type: protein coding

About RGS12

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:3,285,891-3,439,913 (from NCBI)

This gene has 26 transcripts (splice variants), 142 orthologues and 23 paralogues. Ubiquitous expression in skin (RPKM 3.7), brain (RPKM 3.2) and 24 other tissues.

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]

RGS12 Products(12)

mRNA Protein Name
NM_001394154.1 NP_001381083.1 regulator of G-protein signaling 12 isoform 1
NM_001394155.1 NP_001381084.1 regulator of G-protein signaling 12 isoform 1
NM_001394156.1 NP_001381085.1 regulator of G-protein signaling 12 isoform 2
NM_001394157.1 NP_001381086.1 regulator of G-protein signaling 12 isoform 4
NM_001394158.1 NP_001381087.1 regulator of G-protein signaling 12 isoform 5
NM_001394159.1 NP_001381088.1 regulator of G-protein signaling 12 isoform 6
NM_001394161.1 NP_001381090.1 regulator of G-protein signaling 12 isoform 7
NM_001394162.1 NP_001381091.1 regulator of G-protein signaling 12 isoform 7
NM_001394163.1 NP_001381092.1 regulator of G-protein signaling 12 isoform 7
NM_002926.5 NP_002917.1 regulator of G-protein signaling 12 isoform 2
NM_198227.2 NP_937870.1 regulator of G-protein signaling 12 isoform 3
NM_198229.3 NP_937872.1 regulator of G-protein signaling 12 isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables GTPase regulator activity IDA
IDA: Inferred from direct assay
9651375 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RGS12 Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (24 - 95)

RGS

RGS: Regulator of G protein signaling domain (715 - 831)

RBD

RBD: Raf-like Ras-binding domain (962 - 1032)

RBD

RBD: Raf-like Ras-binding domain (1035 - 1104)

GoLoco

GoLoco: GoLoco motif (1188 - 1209)

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  • 1376 a.a.
Protein Preferred Names Protein Names

regulator of G-protein signaling 12

regulator of G-protein signalling 12

RGS12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RGS12 O14924 PM20D2 Homo sapiens Q8IYS1
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta RGS12 VGNC VGNC:100266
Mus musculus RGS12 MGD MGI:1918979
Canis familiaris RGS12 VGNC VGNC:45522
Felis catus RGS12 VGNC VGNC:69312
Rattus norvegicus RGS12 RGD RGD:3564