U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 23370, updated on 25-Jan-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