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ECT2 epithelial cell transforming 2 [ Homo sapiens (human) ]

Gene ID: 1894, updated on 1-Jun-2020

Summary

Official Symbol
ECT2provided by HGNC
Official Full Name
epithelial cell transforming 2provided by HGNC
Primary source
HGNC:HGNC:3155
See related
Ensembl:ENSG00000114346 MIM:600586
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
ARHGEF31
Summary
The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
Expression
Broad expression in testis (RPKM 6.4), colon (RPKM 5.0) and 24 other tissues See more
Orthologs

Genomic context

See ECT2 in Genome Data Viewer
Location:
3q26.31
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (172750685..172829273)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (172468425..172539264)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene neutral cholesterol ester hydrolase 1 Neighboring gene Sharpr-MPRA regulatory region 3964 Neighboring gene RNA, U6 small nuclear 547, pseudogene Neighboring gene RNA, U4 small nuclear 4, pseudogene Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 4 Neighboring gene uncharacterized LOC107986052 Neighboring gene spermatogenesis associated 16 Neighboring gene uncharacterized LOC105374221

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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10461, MGC138291

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Rac guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rho guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
positive regulation of cytokinesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of attachment of spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cytokinesis, actomyosin contractile ring assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
centralspindlin complex IDA
Inferred from Direct Assay
more info
PubMed 
cleavage furrow IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein ECT2
Names
epithelial cell-transforming sequence 2 oncogene

NCBI Reference Sequences (RefSeq)

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_001258315.2NP_001245244.1  protein ECT2 isoform a

    See identical proteins and their annotated locations for NP_001245244.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 8, 9, and 10, encodes the isoform (a).
    Source sequence(s)
    BC070038, DB229273, DQ847274
    Consensus CDS
    CCDS58860.1
    UniProtKB/Swiss-Prot
    Q9H8V3
    Related
    ENSP00000376457.3, ENST00000392692.7
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  2. NM_001258316.1NP_001245245.1  protein ECT2 isoform b

    See identical proteins and their annotated locations for NP_001245245.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
    Source sequence(s)
    AY376439, BC070038, BC112086, DB229273, DC406772
    Consensus CDS
    CCDS3220.1
    UniProtKB/Swiss-Prot
    Q9H8V3
    Related
    ENSP00000443160.2, ENST00000540509.5
    Conserved Domains (4) summary
    smart00325
    Location:425609
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:600773
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
  3. NM_001349094.2NP_001336023.1  protein ECT2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (c). Variants 4, 5, and 6 all encode the same isoform (c).
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  4. NM_001349095.2NP_001336024.1  protein ECT2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 4 and 6, encodes isoform c.
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  5. NM_001349096.2NP_001336025.1  protein ECT2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 4 and 5, encodes isoform c.
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  6. NM_001349097.2NP_001336026.1  protein ECT2 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes isoform d.
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:455639
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:630803
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:265340
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:178241
    PTCB-BRCT; twin BRCT domain
  7. NM_001349098.2NP_001336027.1  protein ECT2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 9, and 10, encodes isoform a.
    Source sequence(s)
    AC108667
    Consensus CDS
    CCDS58860.1
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  8. NM_001349099.2NP_001336028.1  protein ECT2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 8, and 10, encodes isoform a.
    Source sequence(s)
    AC108667
    Consensus CDS
    CCDS58860.1
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  9. NM_001349100.2NP_001336029.1  protein ECT2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 8, and 9, encodes isoform a.
    Source sequence(s)
    AC108667
    Consensus CDS
    CCDS58860.1
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  10. NM_001349101.2NP_001336030.1  protein ECT2 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) encodes isoform e.
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:425609
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:600773
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
  11. NM_001349102.2NP_001336031.1  protein ECT2 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) encodes isoform f.
    Source sequence(s)
    AC108667
    Consensus CDS
    CCDS87168.1
    Related
    ENSP00000415876.1, ENST00000417960.5
    Conserved Domains (4) summary
    smart00325
    Location:424608
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:599772
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:234309
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:147210
    PTCB-BRCT; twin BRCT domain
  12. NM_001349103.2NP_001336032.1  protein ECT2 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variant 14, encodes isoform g.
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:396580
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:571744
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
  13. NM_001349104.2NP_001336033.1  protein ECT2 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variant 13, encodes isoform g.
    Source sequence(s)
    AC108667
    Conserved Domains (4) summary
    smart00325
    Location:396580
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:571744
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
  14. NM_018098.6NP_060568.3  protein ECT2 isoform b

    See identical proteins and their annotated locations for NP_060568.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
    Source sequence(s)
    BC070038, BC112086, DB229273
    Consensus CDS
    CCDS3220.1
    UniProtKB/Swiss-Prot
    Q9H8V3
    Related
    ENSP00000232458.5, ENST00000232458.9
    Conserved Domains (4) summary
    smart00325
    Location:425609
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:600773
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    172750685..172829273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005831.1XP_016861320.1  protein ECT2 isoform X2

  2. XM_011512514.2XP_011510816.1  protein ECT2 isoform X1

    See identical proteins and their annotated locations for XP_011510816.1

    UniProtKB/Swiss-Prot
    Q9H8V3
    Conserved Domains (4) summary
    smart00325
    Location:456640
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  3. XM_006713524.4XP_006713587.1  protein ECT2 isoform X4

    Conserved Domains (4) summary
    cd01229
    Location:631804
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:266341
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam00621
    Location:456640
    RhoGEF; RhoGEF domain
    pfam12738
    Location:179242
    PTCB-BRCT; twin BRCT domain
  4. XM_017005832.1XP_016861321.1  protein ECT2 isoform X3

    Conserved Domains (4) summary
    smart00325
    Location:425609
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:600773
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
  5. XM_005247176.2XP_005247233.1  protein ECT2 isoform X3

    See identical proteins and their annotated locations for XP_005247233.1

    Conserved Domains (4) summary
    smart00325
    Location:425609
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:600773
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
  6. XM_011512516.1XP_011510818.1  protein ECT2 isoform X3

    See identical proteins and their annotated locations for XP_011510818.1

    Conserved Domains (4) summary
    smart00325
    Location:425609
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01229
    Location:600773
    PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain
    pfam00533
    Location:235310
    BRCT; BRCA1 C Terminus (BRCT) domain
    pfam12738
    Location:148211
    PTCB-BRCT; twin BRCT domain
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