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

Gene ID: 23365, updated on 26-Jan-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
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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

    UniProtKB/TrEMBL
    A0A2X0SFF5
  3. XM_047426661.1XP_047282617.1  rho guanine nucleotide exchange factor 12 isoform X5

    UniProtKB/TrEMBL
    A0A2X0SFF5
  4. XM_047426660.1XP_047282616.1  rho guanine nucleotide exchange factor 12 isoform X3

    UniProtKB/TrEMBL
    A0A2X0SFF5
  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

    UniProtKB/TrEMBL
    A0A2X0SFF5
  7. XM_047426665.1XP_047282621.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, 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

    UniProtKB/TrEMBL
    A0A2X0SFF5
  10. XM_047426663.1XP_047282619.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, E9PMR6
  11. XM_047426667.1XP_047282623.1  rho guanine nucleotide exchange factor 12 isoform X9

    UniProtKB/TrEMBL
    A0A2X0SFF5
  12. XM_047426668.1XP_047282624.1  rho guanine nucleotide exchange factor 12 isoform X8

    UniProtKB/TrEMBL
    A0A2X0SFF5
  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

    UniProtKB/TrEMBL
    A0A2X0SFF5
  15. XM_047426664.1XP_047282620.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, E9PMR6
  16. XM_047426669.1XP_047282625.1  rho guanine nucleotide exchange factor 12 isoform X8

    UniProtKB/TrEMBL
    A0A2X0SFF5

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
    A0A2X0SFF5, E9PMR6
  2. XM_054368210.1XP_054224185.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, E9PMR6
  3. XM_054368215.1XP_054224190.1  rho guanine nucleotide exchange factor 12 isoform X9

    UniProtKB/TrEMBL
    A0A2X0SFF5
  4. XM_054368214.1XP_054224189.1  rho guanine nucleotide exchange factor 12 isoform X8

    UniProtKB/TrEMBL
    A0A2X0SFF5
  5. XM_054368216.1XP_054224191.1  rho guanine nucleotide exchange factor 12 isoform X8

    UniProtKB/TrEMBL
    A0A2X0SFF5
  6. XM_054368203.1XP_054224178.1  rho guanine nucleotide exchange factor 12 isoform X1

    UniProtKB/TrEMBL
    A0A2X0SFF5
  7. XM_054368204.1XP_054224179.1  rho guanine nucleotide exchange factor 12 isoform X2

    UniProtKB/TrEMBL
    A0A2X0SFF5
  8. XM_054368207.1XP_054224182.1  rho guanine nucleotide exchange factor 12 isoform X5

    UniProtKB/TrEMBL
    A0A2X0SFF5
  9. XM_054368205.1XP_054224180.1  rho guanine nucleotide exchange factor 12 isoform X3

    UniProtKB/TrEMBL
    A0A2X0SFF5
  10. XM_054368206.1XP_054224181.1  rho guanine nucleotide exchange factor 12 isoform X4

    UniProtKB/TrEMBL
    A0A2X0SFF5
  11. XM_054368209.1XP_054224184.1  rho guanine nucleotide exchange factor 12 isoform X7

    UniProtKB/TrEMBL
    A0A2X0SFF5
  12. XM_054368213.1XP_054224188.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, E9PMR6
  13. XM_054368212.1XP_054224187.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, E9PMR6
  14. XM_054368218.1XP_054224193.1  rho guanine nucleotide exchange factor 12 isoform X10

    UniProtKB/TrEMBL
    A0A2X0SFF5
  15. XM_054368211.1XP_054224186.1  rho guanine nucleotide exchange factor 12 isoform X6

    UniProtKB/TrEMBL
    A0A2X0SFF5, E9PMR6
  16. XM_054368217.1XP_054224192.1  rho guanine nucleotide exchange factor 12 isoform X8

    UniProtKB/TrEMBL
    A0A2X0SFF5