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    ARHGEF10 Rho guanine nucleotide exchange factor 10 [ Homo sapiens (human) ]

    Gene ID: 9639, updated on 27-Nov-2024

    Summary

    Official Symbol
    ARHGEF10provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 10provided by HGNC
    Primary source
    HGNC:HGNC:14103
    See related
    Ensembl:ENSG00000104728 MIM:608136; AllianceGenome:HGNC:14103
    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
    SNCV; GEF10
    Summary
    This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Broad expression in testis (RPKM 15.4), lung (RPKM 12.1) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGEF10 in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (1823300..1958641)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (1601800..1736745)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1772092..1906807)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1762347-1762848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1762849-1763348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1764028-1764696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1764697-1765364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1776960-1777876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1777877-1778792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1781498-1781998 Neighboring gene microRNA 596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1783384-1783975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1788613-1789492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1789493-1790372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1790373-1791250 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1791725-1792924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1813026-1813858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1821545-1822256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1829183-1829682 Neighboring gene Sharpr-MPRA regulatory region 1960 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:1854442-1855641 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1856650-1856751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1859957-1860559 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:1864189-1864688 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1870370-1871569 Neighboring gene uncharacterized LOC100131395 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1894594-1894745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1897836-1898336 Neighboring gene KBTBD11 antisense RNA 1 Neighboring gene KBTBD11 overlapping transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1926153-1926712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1926713-1927271 Neighboring gene kelch repeat and BTB domain containing 11

    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
    Autosomal dominant slowed nerve conduction velocity
    MedGen: C1842357 OMIM: 608236 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of brain lesion distribution in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC131664, DKFZp686H0726

    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 guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    rho guanine nucleotide exchange factor 10
    Names
    Rho guanine nucleotide exchange factor (GEF) 10

    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_008480.1 RefSeqGene

      Range
      5001..139659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_234

    mRNA and Protein(s)

    1. NM_001308152.2NP_001295081.1  rho guanine nucleotide exchange factor 10 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA758332, AB002292, AC019257, BC112926
      Consensus CDS
      CCDS78297.1
      UniProtKB/TrEMBL
      A0A2X0U4L4
      Related
      ENSP00000427909.1, ENST00000520359.5
      Conserved Domains (2) summary
      pfam00621
      Location:366544
      RhoGEF; RhoGEF domain
      cl17171
      Location:576640
      PH-like; Pleckstrin homology-like domain
    2. NM_001308153.2NP_001295082.1  rho guanine nucleotide exchange factor 10 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and contains an alternate exon in the 5' UTR and 5' coding region, which results in the use of an alternate start codon compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA758332, AB002292, AC019257, BC112926, CR749570
      Consensus CDS
      CCDS78296.1
      UniProtKB/TrEMBL
      A0A2X0U4L4
      Related
      ENSP00000431012.1, ENST00000518288.5
      Conserved Domains (2) summary
      pfam00621
      Location:429606
      RhoGEF; RhoGEF domain
      cl17171
      Location:638702
      PH-like; Pleckstrin homology-like domain
    3. NM_014629.4NP_055444.2  rho guanine nucleotide exchange factor 10 isoform 1

      See identical proteins and their annotated locations for NP_055444.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AA758332, AB002292, AC019257, AI348138, CN307765
      Consensus CDS
      CCDS34794.1
      UniProtKB/TrEMBL
      A0A2X0U4L4
      Related
      ENSP00000340297.3, ENST00000349830.8
      Conserved Domains (2) summary
      pfam00621
      Location:404582
      RhoGEF; RhoGEF domain
      cl17171
      Location:614678
      PH-like; Pleckstrin homology-like domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      1823300..1958641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422457.1XP_047278413.1  rho guanine nucleotide exchange factor 10 isoform X10

    2. XM_047422452.1XP_047278408.1  rho guanine nucleotide exchange factor 10 isoform X7

    3. XM_047422450.1XP_047278406.1  rho guanine nucleotide exchange factor 10 isoform X4

    4. XM_047422454.1XP_047278410.1  rho guanine nucleotide exchange factor 10 isoform X3

    5. XM_047422456.1XP_047278412.1  rho guanine nucleotide exchange factor 10 isoform X9

    6. XM_047422461.1XP_047278417.1  rho guanine nucleotide exchange factor 10 isoform X15

    7. XM_005266041.5XP_005266098.1  rho guanine nucleotide exchange factor 10 isoform X4

      See identical proteins and their annotated locations for XP_005266098.1

      UniProtKB/TrEMBL
      A0A2X0U4L4
      Conserved Domains (3) summary
      cd00160
      Location:398582
      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.
      PTZ00441
      Location:3250
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
      cl17171
      Location:615679
      PH-like; Pleckstrin homology-like domain
    8. XM_047422459.1XP_047278415.1  rho guanine nucleotide exchange factor 10 isoform X12

    9. XM_047422455.1XP_047278411.1  rho guanine nucleotide exchange factor 10 isoform X9

    10. XM_047422458.1XP_047278414.1  rho guanine nucleotide exchange factor 10 isoform X11

    11. XM_017014003.2XP_016869492.1  rho guanine nucleotide exchange factor 10 isoform X2

      UniProtKB/Swiss-Prot
      O14665, O15013, Q2KHR8, Q68D55, Q8IWD9, Q8IY77
      UniProtKB/TrEMBL
      A0A2X0U4L4
      Related
      ENSP00000381571.1, ENST00000398564.5
      Conserved Domains (2) summary
      pfam00621
      Location:429607
      RhoGEF; RhoGEF domain
      cl17171
      Location:639703
      PH-like; Pleckstrin homology-like domain
    12. XM_047422449.1XP_047278405.1  rho guanine nucleotide exchange factor 10 isoform X3

    13. XM_024447335.2XP_024303103.1  rho guanine nucleotide exchange factor 10 isoform X1

      UniProtKB/TrEMBL
      A0A2X0U4L4
      Conserved Domains (3) summary
      cd00160
      Location:426610
      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.
      PTZ00441
      Location:27278
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
      cl17171
      Location:643707
      PH-like; Pleckstrin homology-like domain
    14. XM_047422453.1XP_047278409.1  rho guanine nucleotide exchange factor 10 isoform X8

    15. XM_011534768.1XP_011533070.1  rho guanine nucleotide exchange factor 10 isoform X6

      See identical proteins and their annotated locations for XP_011533070.1

      UniProtKB/TrEMBL
      A0A2X0U4L4
      Conserved Domains (2) summary
      pfam00621
      Location:405583
      RhoGEF; RhoGEF domain
      cl17171
      Location:615679
      PH-like; Pleckstrin homology-like domain
    16. XM_047422451.1XP_047278407.1  rho guanine nucleotide exchange factor 10 isoform X5

    17. XM_011534770.3XP_011533072.1  rho guanine nucleotide exchange factor 10 isoform X13

      See identical proteins and their annotated locations for XP_011533072.1

      UniProtKB/TrEMBL
      A0A2X0U4L4
      Conserved Domains (2) summary
      pfam00621
      Location:405583
      RhoGEF; RhoGEF domain
      cl17171
      Location:615679
      PH-like; Pleckstrin homology-like domain
    18. XM_047422460.1XP_047278416.1  rho guanine nucleotide exchange factor 10 isoform X14

    19. XM_047422462.1XP_047278418.1  rho guanine nucleotide exchange factor 10 isoform X16

      Related
      ENSP00000427768.1, ENST00000522435.5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187576.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      6676..142017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328834.1XP_054184809.1  rho guanine nucleotide exchange factor 10 isoform X10

    2. XM_054328829.1XP_054184804.1  rho guanine nucleotide exchange factor 10 isoform X7

    3. XM_054328826.1XP_054184801.1  rho guanine nucleotide exchange factor 10 isoform X4

    4. XM_054328831.1XP_054184806.1  rho guanine nucleotide exchange factor 10 isoform X3

    5. XM_054328833.1XP_054184808.1  rho guanine nucleotide exchange factor 10 isoform X9

    6. XM_054328839.1XP_054184814.1  rho guanine nucleotide exchange factor 10 isoform X15

    7. XM_054328825.1XP_054184800.1  rho guanine nucleotide exchange factor 10 isoform X4

    8. XM_054328836.1XP_054184811.1  rho guanine nucleotide exchange factor 10 isoform X12

    9. XM_054328832.1XP_054184807.1  rho guanine nucleotide exchange factor 10 isoform X9

    10. XM_054328835.1XP_054184810.1  rho guanine nucleotide exchange factor 10 isoform X11

    11. XM_054328823.1XP_054184798.1  rho guanine nucleotide exchange factor 10 isoform X2

      UniProtKB/Swiss-Prot
      O14665, O15013, Q2KHR8, Q68D55, Q8IWD9, Q8IY77
    12. XM_054328824.1XP_054184799.1  rho guanine nucleotide exchange factor 10 isoform X3

    13. XM_054328822.1XP_054184797.1  rho guanine nucleotide exchange factor 10 isoform X1

    14. XM_054328830.1XP_054184805.1  rho guanine nucleotide exchange factor 10 isoform X8

    15. XM_054328828.1XP_054184803.1  rho guanine nucleotide exchange factor 10 isoform X6

    16. XM_054328827.1XP_054184802.1  rho guanine nucleotide exchange factor 10 isoform X5

    17. XM_054328837.1XP_054184812.1  rho guanine nucleotide exchange factor 10 isoform X13

    18. XM_054328838.1XP_054184813.1  rho guanine nucleotide exchange factor 10 isoform X14

    19. XM_054328840.1XP_054184815.1  rho guanine nucleotide exchange factor 10 isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      1601800..1736745
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361550.1XP_054217525.1  rho guanine nucleotide exchange factor 10 isoform X10

    2. XM_054361545.1XP_054217520.1  rho guanine nucleotide exchange factor 10 isoform X7

    3. XM_054361542.1XP_054217517.1  rho guanine nucleotide exchange factor 10 isoform X4

    4. XM_054361547.1XP_054217522.1  rho guanine nucleotide exchange factor 10 isoform X3

    5. XM_054361549.1XP_054217524.1  rho guanine nucleotide exchange factor 10 isoform X9

    6. XM_054361555.1XP_054217530.1  rho guanine nucleotide exchange factor 10 isoform X15

    7. XM_054361541.1XP_054217516.1  rho guanine nucleotide exchange factor 10 isoform X4

    8. XM_054361552.1XP_054217527.1  rho guanine nucleotide exchange factor 10 isoform X12

    9. XM_054361548.1XP_054217523.1  rho guanine nucleotide exchange factor 10 isoform X9

    10. XM_054361551.1XP_054217526.1  rho guanine nucleotide exchange factor 10 isoform X11

    11. XM_054361539.1XP_054217514.1  rho guanine nucleotide exchange factor 10 isoform X2

      UniProtKB/Swiss-Prot
      O14665, O15013, Q2KHR8, Q68D55, Q8IWD9, Q8IY77
    12. XM_054361540.1XP_054217515.1  rho guanine nucleotide exchange factor 10 isoform X3

    13. XM_054361538.1XP_054217513.1  rho guanine nucleotide exchange factor 10 isoform X1

    14. XM_054361546.1XP_054217521.1  rho guanine nucleotide exchange factor 10 isoform X8

    15. XM_054361544.1XP_054217519.1  rho guanine nucleotide exchange factor 10 isoform X6

    16. XM_054361543.1XP_054217518.1  rho guanine nucleotide exchange factor 10 isoform X5

    17. XM_054361553.1XP_054217528.1  rho guanine nucleotide exchange factor 10 isoform X13

    18. XM_054361554.1XP_054217529.1  rho guanine nucleotide exchange factor 10 isoform X14

    19. XM_054361556.1XP_054217531.1  rho guanine nucleotide exchange factor 10 isoform X16

    RNA

    1. XR_008487897.1 RNA Sequence