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    ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 [ Homo sapiens (human) ]

    Gene ID: 23370, updated on 6-Jun-2024

    Summary

    Official Symbol
    ARHGEF18provided by HGNC
    Official Full Name
    Rho/Rac guanine nucleotide exchange factor 18provided by HGNC
    Primary source
    HGNC:HGNC:17090
    See related
    Ensembl:ENSG00000104880 MIM:616432; AllianceGenome:HGNC:17090
    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
    RP78; SA-RhoGEF; p114RhoGEF; P114-RhoGEF
    Summary
    Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
    Expression
    Ubiquitous expression in spleen (RPKM 12.9), lymph node (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF18 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7348937..7479989)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7341415..7480103)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7413842..7537364)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7103011-7103510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7102509-7103010 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:7109747-7110266 Neighboring gene MPRA-validated peak3314 silencer Neighboring gene insulin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:7197359-7198195 Neighboring gene uncharacterized LOC124904626 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7212577-7213123 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:7213124-7213669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13874 Neighboring gene MPRA-validated peak3317 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:7257400-7258262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7288463-7288964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7292867-7293625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7439323-7439927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7438718-7439322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7447849-7448349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13881 Neighboring gene ARHGEF18 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7459704-7460144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13882 Neighboring gene MPRA-validated peak3319 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7462888-7463393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7463394-7463898 Neighboring gene MPRA-validated peak3320 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13886 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7501123-7501310 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:7515146-7515690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:7515691-7516233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7541732-7542367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7548591-7549112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9983 Neighboring gene Sharpr-MPRA regulatory region 6634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9984 Neighboring gene Sharpr-MPRA regulatory region 11228 Neighboring gene peroxisomal biogenesis factor 11 gamma Neighboring gene uncharacterized LOC105372261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9985 Neighboring gene stabilizer of axonemal microtubules 5 Neighboring gene zinc finger protein 358

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Retinitis pigmentosa 78
    MedGen: C4479481 OMIM: 617433 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0521, MGC15913

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction TAS
    Traceable Author Statement
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 18
    Names
    114 kDa Rho-specific guanine nucleotide exchange factor
    Rho-specific guanine nucleotide exchange factor p114
    Rho/Rac guanine nucleotide exchange factor (GEF) 18
    septin-associated RhoGEF

    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_047135.2 RefSeqGene

      Range
      5002..128543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130955.2NP_001124427.2  rho guanine nucleotide exchange factor 18 isoform b

      Status: REVIEWED

      Source sequence(s)
      AA609742, AB011093, AC008878, AK127045
      Consensus CDS
      CCDS45946.2
      UniProtKB/TrEMBL
      A0A087WZG4, A0A3B3IPE9
      Related
      ENSP00000352995.5, ENST00000359920.11
    2. NM_001367823.1NP_001354752.1  rho guanine nucleotide exchange factor 18 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC008878, AC119396
      Consensus CDS
      CCDS92502.1
      UniProtKB/Swiss-Prot
      A8MV62, B5ME81, I3L1I5, O60274, Q6DD92, Q6ZSZ5
      Related
      ENSP00000499655.2, ENST00000668164.2
    3. NM_001367824.1NP_001354753.1  rho guanine nucleotide exchange factor 18 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC008878, AC119396
      Consensus CDS
      CCDS12177.1
      UniProtKB/TrEMBL
      A0A804CAZ4
      Related
      ENSP00000482647.4, ENST00000617428.4
    4. NM_015318.4NP_056133.2  rho guanine nucleotide exchange factor 18 isoform a

      See identical proteins and their annotated locations for NP_056133.2

      Status: REVIEWED

      Source sequence(s)
      AA609742, AB011093, AK127045, DB075637
      Consensus CDS
      CCDS12177.1
      UniProtKB/TrEMBL
      A0A804CAZ4
      Conserved Domains (5) summary
      cd00160
      Location:102296
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:336454
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      pfam00169
      Location:375440
      PH; PH domain
      pfam11981
      Location:704777
      DUF3482; Domain of unknown function (DUF3482)
      cl24005
      Location:650745
      DUF2570; Protein of unknown function (DUF2570)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7348937..7479989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722706.4XP_006722769.1  rho guanine nucleotide exchange factor 18 isoform X3

      See identical proteins and their annotated locations for XP_006722769.1

      UniProtKB/Swiss-Prot
      A8MV62, B5ME81, I3L1I5, O60274, Q6DD92, Q6ZSZ5
      Conserved Domains (4) summary
      PRK13729
      Location:10841228
      PRK13729; conjugal transfer pilus assembly protein TraB; Provisional
      cd00160
      Location:448642
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:682800
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      cl25742
      Location:10141128
      ERM; Ezrin/radixin/moesin family
    2. XM_011527836.3XP_011526138.1  rho guanine nucleotide exchange factor 18 isoform X1

      See identical proteins and their annotated locations for XP_011526138.1

      Conserved Domains (6) summary
      cd00160
      Location:513707
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:747865
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      pfam00169
      Location:786851
      PH; PH domain
      pfam12474
      Location:10861193
      PKK; Polo kinase kinase
      pfam13863
      Location:11111190
      DUF4200; Domain of unknown function (DUF4200)
      cl24005
      Location:10611156
      DUF2570; Protein of unknown function (DUF2570)
    3. XM_011527837.3XP_011526139.1  rho guanine nucleotide exchange factor 18 isoform X2

      Conserved Domains (6) summary
      cd00160
      Location:513707
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:747865
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      pfam00169
      Location:786851
      PH; PH domain
      pfam12474
      Location:10861193
      PKK; Polo kinase kinase
      pfam13863
      Location:11111190
      DUF4200; Domain of unknown function (DUF4200)
      cl24005
      Location:10611156
      DUF2570; Protein of unknown function (DUF2570)
    4. XM_005272464.5XP_005272521.1  rho guanine nucleotide exchange factor 18 isoform X1

      See identical proteins and their annotated locations for XP_005272521.1

      Conserved Domains (6) summary
      cd00160
      Location:513707
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:747865
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      pfam00169
      Location:786851
      PH; PH domain
      pfam12474
      Location:10861193
      PKK; Polo kinase kinase
      pfam13863
      Location:11111190
      DUF4200; Domain of unknown function (DUF4200)
      cl24005
      Location:10611156
      DUF2570; Protein of unknown function (DUF2570)
    5. XM_011527841.3XP_011526143.1  rho guanine nucleotide exchange factor 18 isoform X7

      Conserved Domains (3) summary
      cd00160
      Location:513707
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:747865
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      pfam00169
      Location:786851
      PH; PH domain
    6. XM_011527839.3XP_011526141.1  rho guanine nucleotide exchange factor 18 isoform X4

      UniProtKB/TrEMBL
      A0A590UK10
      Conserved Domains (5) summary
      cd00160
      Location:432626
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd15794
      Location:666784
      PH_ARHGEF18; Rho guanine nucleotide exchange factor 18 Pleckstrin homology (PH) domain
      pfam00169
      Location:705770
      PH; PH domain
      pfam13863
      Location:10301109
      DUF4200; Domain of unknown function (DUF4200)
      cl24005
      Location:9801075
      DUF2570; Protein of unknown function (DUF2570)
    7. XM_047438526.1XP_047294482.1  rho guanine nucleotide exchange factor 18 isoform X5

      UniProtKB/TrEMBL
      A0A804CAZ4
    8. XM_047438527.1XP_047294483.1  rho guanine nucleotide exchange factor 18 isoform X6

      UniProtKB/TrEMBL
      A0A804CAZ4
    9. XM_047438528.1XP_047294484.1  rho guanine nucleotide exchange factor 18 isoform X5

      UniProtKB/TrEMBL
      A0A804CAZ4

    RNA

    1. XR_007066705.1 RNA Sequence

    2. XR_007066706.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7341415..7480103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320376.1XP_054176351.1  rho guanine nucleotide exchange factor 18 isoform X3

      UniProtKB/Swiss-Prot
      A8MV62, B5ME81, I3L1I5, O60274, Q6DD92, Q6ZSZ5
    2. XM_054320374.1XP_054176349.1  rho guanine nucleotide exchange factor 18 isoform X1

    3. XM_054320373.1XP_054176348.1  rho guanine nucleotide exchange factor 18 isoform X1

    4. XM_054320372.1XP_054176347.1  rho guanine nucleotide exchange factor 18 isoform X1

    5. XM_054320375.1XP_054176350.1  rho guanine nucleotide exchange factor 18 isoform X2

    6. XM_054320382.1XP_054176357.1  rho guanine nucleotide exchange factor 18 isoform X7

    7. XM_054320377.1XP_054176352.1  rho guanine nucleotide exchange factor 18 isoform X4

      UniProtKB/TrEMBL
      A0A590UK10
    8. XM_054320379.1XP_054176354.1  rho guanine nucleotide exchange factor 18 isoform X5

      UniProtKB/TrEMBL
      A0A804CAZ4
    9. XM_054320380.1XP_054176355.1  rho guanine nucleotide exchange factor 18 isoform X6

      UniProtKB/TrEMBL
      A0A804CAZ4
    10. XM_054320378.1XP_054176353.1  rho guanine nucleotide exchange factor 18 isoform X5

      UniProtKB/TrEMBL
      A0A804CAZ4
    11. XM_054320381.1XP_054176356.1  rho guanine nucleotide exchange factor 18 isoform X5

      UniProtKB/TrEMBL
      A0A804CAZ4

    RNA

    1. XR_008485127.1 RNA Sequence

    2. XR_008485128.1 RNA Sequence