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    ARHGEF38 Rho guanine nucleotide exchange factor 38 [ Homo sapiens (human) ]

    Gene ID: 54848, updated on 27-Nov-2024

    Summary

    Official Symbol
    ARHGEF38provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 38provided by HGNC
    Primary source
    HGNC:HGNC:25968
    See related
    Ensembl:ENSG00000236699 MIM:619919; AllianceGenome:HGNC:25968
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 3.4), colon (RPKM 1.7) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF38 in Genome Data Viewer
    Location:
    4q24
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (105552620..105682566)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (108863418..108993730)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106473777..106602071)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377352 Neighboring gene ATP synthase F1 subunit epsilon pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:106476385-106476934 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:106477486-106478035 Neighboring gene ARHGEF38 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21783 Neighboring gene integrator complex subunit 12 Neighboring gene uncharacterized LOC124900748 Neighboring gene uncharacterized LOC124900747

    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

    EBI GWAS Catalog

    Description
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    EBI GWAS Catalog
    Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20184, FLJ43963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    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
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 38
    Names
    Rho guanine nucleotide exchange factor (GEF) 38

    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.

    mRNA and Protein(s)

    1. NM_001242729.2NP_001229658.1  rho guanine nucleotide exchange factor 38 isoform 1

      See identical proteins and their annotated locations for NP_001229658.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC105391, AK000191, AK125951, DT932593
      Consensus CDS
      CCDS56338.1
      UniProtKB/Swiss-Prot
      C9JIB4, Q9NXL2
      Related
      ENSP00000416125.2, ENST00000420470.3
      Conserved Domains (4) summary
      cd07589
      Location:336522
      BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
      cd12141
      Location:717773
      SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
      pfam00621
      Location:98284
      RhoGEF; RhoGEF domain
      cl17036
      Location:586642
      SH3; Src Homology 3 domain superfamily
    2. NM_017700.2NP_060170.1  rho guanine nucleotide exchange factor 38 isoform 2

      See identical proteins and their annotated locations for NP_060170.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents an alternate 3' splice pattern with a shorter coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK000191
      Consensus CDS
      CCDS3670.1
      UniProtKB/Swiss-Prot
      Q9NXL2
      Related
      ENSP00000265154.2, ENST00000265154.6
      Conserved Domains (1) summary
      cl02571
      Location:98194
      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.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      105552620..105682566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532050.3XP_011530352.1  rho guanine nucleotide exchange factor 38 isoform X1

      Conserved Domains (4) summary
      cd07589
      Location:171357
      BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
      cd12141
      Location:552608
      SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
      cl02571
      Location:4119
      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.
      cl17036
      Location:421477
      SH3; Src Homology 3 domain superfamily
    2. XM_011532051.3XP_011530353.1  rho guanine nucleotide exchange factor 38 isoform X3

      Conserved Domains (2) summary
      pfam00621
      Location:98284
      RhoGEF; RhoGEF domain
      cl12013
      Location:336419
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_006714244.4XP_006714307.1  rho guanine nucleotide exchange factor 38 isoform X2

      Conserved Domains (4) summary
      cd07589
      Location:118304
      BAR_DNMBP; The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin Binding Protein
      cd12141
      Location:499555
      SH3_DNMBP_C2; Second C-terminal Src homology 3 domain of Dynamin Binding Protein, also called Tuba, and similar domains
      cl02571
      Location:166
      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.
      cl17036
      Location:368424
      SH3; Src Homology 3 domain superfamily

    RNA

    1. XR_938749.4 RNA Sequence

    2. XR_007057934.1 RNA Sequence

    3. XR_938750.4 RNA Sequence

    4. XR_001741247.3 RNA Sequence

    5. XR_938751.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      108863418..108993730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350283.1XP_054206258.1  rho guanine nucleotide exchange factor 38 isoform X1

    2. XM_054350285.1XP_054206260.1  rho guanine nucleotide exchange factor 38 isoform X3

    3. XM_054350284.1XP_054206259.1  rho guanine nucleotide exchange factor 38 isoform X2

    RNA

    1. XR_008486996.1 RNA Sequence

    2. XR_008486998.1 RNA Sequence

    3. XR_008486999.1 RNA Sequence

    4. XR_008486997.1 RNA Sequence

    5. XR_008487000.1 RNA Sequence