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ARHGEF12 Rho guanine nucleotide exchange factor 12 [ Homo sapiens (human) ]

Gene ID: 23365, updated on 1-Jun-2020

Summary

Official Symbol
ARHGEF12provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 12provided by HGNC
Primary source
HGNC:HGNC:14193
See related
Ensembl:ENSG00000196914 MIM:604763
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
LARG; PRO2792
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in kidney (RPKM 33.3), thyroid (RPKM 28.1) and 25 other tissues See more
Orthologs

Genomic context

See ARHGEF12 in Genome Data Viewer
Location:
11q23.3
Exon count:
43
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (120336276..120489937)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120207264..120360645)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369531 Neighboring gene POU class 2 homeobox 3 Neighboring gene TLC domain containing 5 Neighboring gene uncharacterized LOC107984400 Neighboring gene glutamate ionotropic receptor kainate type subunit 4 Neighboring gene elongin C pseudogene 22

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of Rho guanine nucleotide exchange factor 12 (ARHGEF12) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0382, DKFZp686O2372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 12
Names
Rho guanine nucleotide exchange factor (GEF) 12
leukemia-associated RhoGEF
leukemia-associated rho guanine nucleotide exchange factor

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_027960.1 RefSeqGene

    Range
    4505..158029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198665.2NP_001185594.1  rho guanine nucleotide exchange factor 12 isoform 2

    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)
    AF180681, AK304316, AP000758, AP001150, BC063117
    Consensus CDS
    CCDS55794.1
    UniProtKB/Swiss-Prot
    Q9NZN5
    UniProtKB/TrEMBL
    B4E2K6
    Related
    ENSP00000349056.3, ENST00000356641.7
    Conserved Domains (4) summary
    cd08754
    Location:330551
    RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
    cd00992
    Location:52126
    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) ...
    cd13390
    Location:9761113
    PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    pfam00621
    Location:772957
    RhoGEF; RhoGEF domain
  2. NM_001301084.2NP_001288013.1  rho guanine nucleotide exchange factor 12 isoform 3

    See identical proteins and their annotated locations for NP_001288013.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate first exon and initiates translation at a downstream AUG compared to variant 1. Thd resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AF180681, AP000659, AP000758, BX647785
    Consensus CDS
    CCDS76487.1
    UniProtKB/Swiss-Prot
    Q9NZN5
    UniProtKB/TrEMBL
    E9PMR6
    Related
    ENSP00000432984.1, ENST00000532993.5
    Conserved Domains (4) summary
    cd08754
    Location:246467
    RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
    cd00992
    Location:242
    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) ...
    cd13390
    Location:8921029
    PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    pfam00621
    Location:688873
    RhoGEF; RhoGEF domain
  3. NM_015313.3NP_056128.1  rho guanine nucleotide exchange factor 12 isoform 1

    See identical proteins and their annotated locations for NP_056128.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF180681, AK304316, AP000758, AP001150, BC063117
    Consensus CDS
    CCDS41727.1
    UniProtKB/Swiss-Prot
    Q9NZN5
    UniProtKB/TrEMBL
    B4E2K6
    Related
    ENSP00000380942.2, ENST00000397843.7
    Conserved Domains (4) summary
    cd08754
    Location:349570
    RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
    cd00992
    Location:71145
    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) ...
    cd13390
    Location:9951132
    PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    pfam00621
    Location:791976
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    120336276..120489937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017420.1XP_016872909.1  rho guanine nucleotide exchange factor 12 isoform X3

  2. XM_011542720.2XP_011541022.1  rho guanine nucleotide exchange factor 12 isoform X1

    See identical proteins and their annotated locations for XP_011541022.1

    UniProtKB/Swiss-Prot
    Q9NZN5
    UniProtKB/TrEMBL
    E9PMR6
    Conserved Domains (4) summary
    cd08754
    Location:246467
    RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
    cd00992
    Location:242
    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) ...
    cd13390
    Location:8921029
    PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    pfam00621
    Location:688873
    RhoGEF; RhoGEF domain
  3. XM_006718805.3XP_006718868.1  rho guanine nucleotide exchange factor 12 isoform X2

    Conserved Domains (4) summary
    cd08754
    Location:324545
    RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
    cd00992
    Location:71145
    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) ...
    cd13390
    Location:9701107
    PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    pfam00621
    Location:766951
    RhoGEF; RhoGEF domain
  4. XM_017017421.1XP_016872910.1  rho guanine nucleotide exchange factor 12 isoform X1

    UniProtKB/Swiss-Prot
    Q9NZN5
    UniProtKB/TrEMBL
    E9PMR6
    Conserved Domains (4) summary
    cd08754
    Location:246467
    RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
    cd00992
    Location:242
    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) ...
    cd13390
    Location:8921029
    PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    pfam00621
    Location:688873
    RhoGEF; RhoGEF domain
  5. XM_017017422.2XP_016872911.1  rho guanine nucleotide exchange factor 12 isoform X4

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