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ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 [ Homo sapiens (human) ]

Gene ID: 23229, updated on 5-Mar-2024

Summary

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Official Symbol
ARHGEF9provided by HGNC
Official Full Name
Cdc42 guanine nucleotide exchange factor 9provided by HGNC
Primary source
HGNC:HGNC:14561
See related
Ensembl:ENSG00000131089 MIM:300429; AllianceGenome:HGNC:14561
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
DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN
Summary
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in brain (RPKM 18.5), heart (RPKM 6.1) and 21 other tissues See more
Orthologs
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Genomic context

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See ARHGEF9 in Genome Data Viewer
Location:
Xq11.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (63634967..63785214, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (62060231..62210488, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (62854847..63005094, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SPIN4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20874 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:62627697-62628511 Neighboring gene spindlin family member 4 Neighboring gene long intergenic non-protein coding RNA 1278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:62712259-62712759 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:62724271-62724771 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:62723770-62724270 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:62780155-62780696 Neighboring gene ARHGEF9 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20875 Neighboring gene uncharacterized LOC128031833 Neighboring gene Sharpr-MPRA regulatory region 13270 Neighboring gene basic transcription factor 3 pseudogene 8 Neighboring gene microRNA 1468 Neighboring gene heterogeneous nuclear ribonucleoprotein D pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. Yang H, et al. Mol Genet Genomic Med, 2022 Jul. PMID 35638461, Free PMC Article
  2. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit. Hines DJ, et al. Mol Psychiatry, 2022 Mar. PMID 35169261, Free PMC Article
  3. Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. Ghesh L, et al. Hum Mutat, 2021 May. PMID 33600053
  4. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females. Scala M, et al. Neurogenetics, 2021 Mar. PMID 32939676
  5. Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. Yao R, et al. J Mol Neurosci, 2020 Jun. PMID 31942680

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.
    Title: LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression.
  2. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
    Title: ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
  3. Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
    Title: Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
  4. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor alpha2 subunit.
    Title: Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit.
  5. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
    Title: De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
  6. Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
    Title: Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
  7. Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
    Title: Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
  8. Study identified a novel mutation in ARHGEF9, c.868C > T/p.R290C, which co-segregated with epileptic encephalopathy, and validated its association with epileptic encephalopathy. Further analysis revealed that all ARHGEF9 mutations were associated with intellectual disability.
    Title: ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
  9. Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene.
    Title: Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
  10. Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism.
    Title: Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 8
MedGen: C1845102 OMIM: 300607 GeneReviews: Hereditary Hyperekplexia Overview
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Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-24)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-11-24)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0424

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 TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of postsynaptic specialization assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in postsynaptic specialization IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
rho guanine nucleotide exchange factor 9
Names
Cdc42 guanine nucleotide exchange factor (GEF) 9
PEM-2 homolog
hPEM-2 collybistin
rac/Cdc42 guanine nucleotide exchange factor 9

NCBI Reference Sequences (RefSeq)

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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_016975.1 RefSeqGene

    Range
    5333..155580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173479.2 → NP_001166950.1  rho guanine nucleotide exchange factor 9 isoform 2

    See identical proteins and their annotated locations for NP_001166950.1

    Status: REVIEWED

    Source sequence(s)
    AB007884, AK295033, AL391277
    Consensus CDS
    CCDS55430.1
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Related
    ENSP00000485369.1, ENST00000623517.3
    Conserved Domains (2) summary
    smart00325
    Location:54 → 233
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:238 → 377
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  2. NM_001173480.2 → NP_001166951.1  rho guanine nucleotide exchange factor 9 isoform 3

    See identical proteins and their annotated locations for NP_001166951.1

    Status: REVIEWED

    Source sequence(s)
    AB007884, AL391277, BC056892, BP270451
    Consensus CDS
    CCDS55429.1
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Related
    ENSP00000485626.1, ENST00000624843.3
    Conserved Domains (2) summary
    smart00325
    Location:5 → 184
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:189 → 328
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  3. NM_001330495.2 → NP_001317424.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  4. NM_001353921.2 → NP_001340850.1  rho guanine nucleotide exchange factor 9 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS94619.1
    UniProtKB/TrEMBL
    A0A2X0SYV8, A0A5F9ZHY9
    Related
    ENSP00000500715.1, ENST00000671741.2
    Conserved Domains (3) summary
    cd11975
    Location:14 → 75
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:114 → 293
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:298 → 437
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  5. NM_001353922.2 → NP_001340851.1  rho guanine nucleotide exchange factor 9 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A2X0SYV8
    Conserved Domains (3) summary
    cd11975
    Location:14 → 75
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:114 → 293
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17171
    Location:298 → 393
    PH-like; Pleckstrin homology-like domain

  6. NM_001353923.1 → NP_001340852.1  rho guanine nucleotide exchange factor 9 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS87753.1
    UniProtKB/TrEMBL
    A0A1B0GWI5, A0A2X0SYV8
    Related
    ENSP00000490940.1, ENST00000635729.1
    Conserved Domains (3) summary
    cd11975
    Location:20 → 81
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:120 → 299
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:304 → 443
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  7. NM_001353924.2 → NP_001340853.1  rho guanine nucleotide exchange factor 9 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes a protein that is the same length as variant (9) but isoforms 8 and 9 have distinct N-termini.
    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Related
    ENSP00000490459.1, ENST00000637040.1
    Conserved Domains (2) summary
    smart00325
    Location:47 → 226
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:231 → 370
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  8. NM_001353926.2 → NP_001340855.1  rho guanine nucleotide exchange factor 9 isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes a protein that is the same length as variant (8) but isoforms 8 and 9 have distinct N-termini.
    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Conserved Domains (2) summary
    smart00325
    Location:47 → 226
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:231 → 370
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  9. NM_001353927.2 → NP_001340856.1  rho guanine nucleotide exchange factor 9 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS94618.1
    UniProtKB/TrEMBL
    A0A2X0SYV8, A0A5F9ZI31
    Related
    ENSP00000500825.1, ENST00000672513.1
    Conserved Domains (3) summary
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17036
    Location:1 → 47
    SH3; Src Homology 3 domain superfamily
    cl17171
    Location:270 → 365
    PH-like; Pleckstrin homology-like domain

  10. NM_001353928.2 → NP_001340857.1  rho guanine nucleotide exchange factor 9 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A2X0SYV8
    Conserved Domains (3) summary
    cd11975
    Location:7 → 68
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:107 → 286
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17171
    Location:291 → 386
    PH-like; Pleckstrin homology-like domain

  11. NM_001369030.1 → NP_001355959.1  rho guanine nucleotide exchange factor 9 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS35315.1
    UniProtKB/Swiss-Prot
    A8K1S8, B4DHC7, F8W7P8, O43307, Q5JSL6
    UniProtKB/TrEMBL
    A0A2X0SYV8
    Related
    ENSP00000500829.1, ENST00000671907.1
    Conserved Domains (3) summary
    cd11975
    Location:7 → 68
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:107 → 286
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:291 → 430
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  12. NM_001369031.1 → NP_001355960.1  rho guanine nucleotide exchange factor 9 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A2X0SYV8
    Conserved Domains (3) summary
    cd11975
    Location:7 → 68
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:107 → 286
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:291 → 430
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  13. NM_001369032.1 → NP_001355961.1  rho guanine nucleotide exchange factor 9 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A2X0SYV8
    Conserved Domains (3) summary
    cd11975
    Location:7 → 68
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:107 → 286
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:291 → 430
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  14. NM_001369033.1 → NP_001355962.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Related
    ENSP00000485282.2, ENST00000624538.2
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  15. NM_001369034.1 → NP_001355963.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Related
    ENSP00000490269.1, ENST00000637417.1
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  16. NM_001369035.1 → NP_001355964.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Related
    ENSP00000485144.1, ENST00000624210.3
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  17. NM_001369036.1 → NP_001355965.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Related
    ENSP00000490679.1, ENST00000637557.1
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  18. NM_001369037.1 → NP_001355966.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL391277, AL451106, BC018106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Related
    ENSP00000364006.1, ENST00000374872.4
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  19. NM_001369038.1 → NP_001355967.1  rho guanine nucleotide exchange factor 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS83477.1
    UniProtKB/TrEMBL
    A0A096LNY0, A0A1B0GTC2, A0A2X0SYV8, B1AMR3
    Conserved Domains (3) summary
    cd11975
    Location:1 → 47
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:270 → 409
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  20. NM_001369039.1 → NP_001355968.1  rho guanine nucleotide exchange factor 9 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Conserved Domains (2) summary
    smart00325
    Location:47 → 226
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:231 → 370
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  21. NM_001369040.1 → NP_001355969.1  rho guanine nucleotide exchange factor 9 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Related
    ENSP00000499905.1, ENST00000672194.1
    Conserved Domains (2) summary
    smart00325
    Location:47 → 226
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:231 → 370
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  22. NM_001369041.1 → NP_001355970.1  rho guanine nucleotide exchange factor 9 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS94618.1
    UniProtKB/TrEMBL
    A0A2X0SYV8, A0A5F9ZI31
    Conserved Domains (3) summary
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17036
    Location:1 → 47
    SH3; Src Homology 3 domain superfamily
    cl17171
    Location:270 → 365
    PH-like; Pleckstrin homology-like domain

  23. NM_001369042.1 → NP_001355971.1  rho guanine nucleotide exchange factor 9 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Consensus CDS
    CCDS55429.1
    UniProtKB/TrEMBL
    A0A5F9ZGZ3
    Conserved Domains (2) summary
    smart00325
    Location:5 → 184
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:189 → 328
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain

  24. NM_001369043.1 → NP_001355972.1  rho guanine nucleotide exchange factor 9 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Conserved Domains (3) summary
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17036
    Location:1 → 47
    SH3; Src Homology 3 domain superfamily
    cl17171
    Location:270 → 343
    PH-like; Pleckstrin homology-like domain

  25. NM_001369044.1 → NP_001355973.1  rho guanine nucleotide exchange factor 9 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL355142, AL391277, AL451106
    Conserved Domains (3) summary
    smart00325
    Location:86 → 265
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17036
    Location:1 → 47
    SH3; Src Homology 3 domain superfamily
    cl17171
    Location:270 → 343
    PH-like; Pleckstrin homology-like domain

  26. NM_001369045.1 → NP_001355974.1  rho guanine nucleotide exchange factor 9 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL391277, AL451106, BC043497
    Conserved Domains (2) summary
    smart00325
    Location:1 → 148
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17171
    Location:153 → 248
    PH-like; Pleckstrin homology-like domain

  27. NM_015185.3 → NP_056000.1  rho guanine nucleotide exchange factor 9 isoform 1

    See identical proteins and their annotated locations for NP_056000.1

    Status: REVIEWED

    Source sequence(s)
    AB007884, AL391277, BP270451
    Consensus CDS
    CCDS35315.1
    UniProtKB/Swiss-Prot
    A8K1S8, B4DHC7, F8W7P8, O43307, Q5JSL6
    UniProtKB/TrEMBL
    A0A2X0SYV8
    Related
    ENSP00000253401.6, ENST00000253401.10
    Conserved Domains (3) summary
    cd11975
    Location:7 → 68
    SH3_ARHGEF9; Src homology 3 domain of the Rho guanine nucleotide exchange factor ARHGEF9
    smart00325
    Location:107 → 286
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:291 → 430
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) 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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    63634967..63785214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    62060231..62210488 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43307.3 GenPept UniProtKB/Swiss-Prot:O43307

Gene LinkOut

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