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

    Gene ID: 23365, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:14193
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF12 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (120336413..120489937)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120360067..120513690)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120207122..120360646)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369531 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120146894-120147083 Neighboring gene POU class 2 homeobox 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120177487-120177989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120176405-120176922 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120184592 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120193421-120193580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3989 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120195689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3991 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120224214-120224428 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120249395 Neighboring gene TLC domain containing 5 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120288060 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120305787 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120306759 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120313899 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120345004 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120350393 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120356317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120386966-120387568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120387569-120388170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120402421-120402957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120418648-120419393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120435257-120435837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120435838-120436417 Neighboring gene uncharacterized LOC107984400 Neighboring gene glutamate ionotropic receptor kainate type subunit 4 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:120479691-120480414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120480713-120481226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5639 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

    Clone Names

    • KIAA0382, DKFZp686O2372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables G protein-coupled receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 12
    Names
    KMT2A/ARHGEF12 fusion protein
    Rho guanine nucleotide exchange factor (GEF) 12
    leukemia-associated RhoGEF
    leukemia-associated rho guanine nucleotide exchange factor

    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_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/TrEMBL
      A0A2X0SFF5
      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/TrEMBL
      A0A2X0SFF5, 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
      O15086, Q6P526, Q9NZN5
      UniProtKB/TrEMBL
      A0A2X0SFF5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      120336413..120489937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718805.4XP_006718868.1  rho guanine nucleotide exchange factor 12 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFF5
      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
    2. XM_047426659.1XP_047282615.1  rho guanine nucleotide exchange factor 12 isoform X2

    3. XM_047426661.1XP_047282617.1  rho guanine nucleotide exchange factor 12 isoform X5

    4. XM_047426660.1XP_047282616.1  rho guanine nucleotide exchange factor 12 isoform X3

    5. XM_017017420.2XP_016872909.1  rho guanine nucleotide exchange factor 12 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SFF5
      Conserved Domains (4) summary
      cd08754
      Location:290511
      RGS_LARG; Regulator of G protein signaling (RGS) domain found in the leukemia-associated Rho guanine nucleotide exchange factor (RhoGEF) protein (LARG)
      smart00325
      Location:732917
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      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:9361073
      PH_LARG; Leukemia-associated Rho guanine nucleotide exchange factor Pleckstrin homology (PH) domain
    6. XM_047426662.1XP_047282618.1  rho guanine nucleotide exchange factor 12 isoform X7

    7. XM_047426665.1XP_047282621.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    8. XM_011542720.3XP_011541022.1  rho guanine nucleotide exchange factor 12 isoform X6

      See identical proteins and their annotated locations for XP_011541022.1

      UniProtKB/TrEMBL
      A0A2X0SFF5, 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
    9. XM_047426666.1XP_047282622.1  rho guanine nucleotide exchange factor 12 isoform X8

    10. XM_047426663.1XP_047282619.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    11. XM_047426667.1XP_047282623.1  rho guanine nucleotide exchange factor 12 isoform X9

    12. XM_047426668.1XP_047282624.1  rho guanine nucleotide exchange factor 12 isoform X8

    13. XM_017017421.2XP_016872910.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SFF5, 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
    14. XM_047426670.1XP_047282626.1  rho guanine nucleotide exchange factor 12 isoform X10

    15. XM_047426664.1XP_047282620.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    16. XM_047426669.1XP_047282625.1  rho guanine nucleotide exchange factor 12 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      120360067..120513690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368208.1XP_054224183.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    2. XM_054368210.1XP_054224185.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    3. XM_054368215.1XP_054224190.1  rho guanine nucleotide exchange factor 12 isoform X9

    4. XM_054368214.1XP_054224189.1  rho guanine nucleotide exchange factor 12 isoform X8

    5. XM_054368216.1XP_054224191.1  rho guanine nucleotide exchange factor 12 isoform X8

    6. XM_054368203.1XP_054224178.1  rho guanine nucleotide exchange factor 12 isoform X1

    7. XM_054368204.1XP_054224179.1  rho guanine nucleotide exchange factor 12 isoform X2

    8. XM_054368207.1XP_054224182.1  rho guanine nucleotide exchange factor 12 isoform X5

    9. XM_054368205.1XP_054224180.1  rho guanine nucleotide exchange factor 12 isoform X3

    10. XM_054368206.1XP_054224181.1  rho guanine nucleotide exchange factor 12 isoform X4

    11. XM_054368209.1XP_054224184.1  rho guanine nucleotide exchange factor 12 isoform X7

    12. XM_054368213.1XP_054224188.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    13. XM_054368212.1XP_054224187.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    14. XM_054368218.1XP_054224193.1  rho guanine nucleotide exchange factor 12 isoform X10

    15. XM_054368211.1XP_054224186.1  rho guanine nucleotide exchange factor 12 isoform X6

      UniProtKB/TrEMBL
      E9PMR6
    16. XM_054368217.1XP_054224192.1  rho guanine nucleotide exchange factor 12 isoform X8