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

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; AllianceGenome:HGNC:3155
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: mouse all
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Genomic context

Location:: 3q26.31

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (172750726..172829265)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (175536482..175615021)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (172468516..172539264)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long noncoding RNA MAPKAPK5-AS1 promotes metastasis through regulation miR-376b-5p/ECT2 axis in hepatocellular carcinoma.
Title: Long noncoding RNA MAPKAPK5-AS1 promotes metastasis through regulation miR-376b-5p/ECT2 axis in hepatocellular carcinoma.
miRNA-223-3p regulates ECT2 to promote proliferation, invasion, and metastasis of gastric cancer through the Wnt/beta-catenin signaling pathway.
Title: miRNA-223-3p regulates ECT2 to promote proliferation, invasion, and metastasis of gastric cancer through the Wnt/β-catenin signaling pathway.
ECT2 promotes malignant phenotypes through the activation of the AKT/mTOR pathway and cisplatin resistance in cervical cancer.
Title: ECT2 promotes malignant phenotypes through the activation of the AKT/mTOR pathway and cisplatin resistance in cervical cancer.
CircSETD3 mediates acquired resistance to gefitinib in non-small lung cancer cells by FXR1/ECT2 pathway.
Title: CircSETD3 mediates acquired resistance to gefitinib in non-small lung cancer cells by FXR1/ECT2 pathway.
Cytokinetic diversity in mammalian cells is revealed by the characterization of endogenous anillin, Ect2 and RhoA.
Title: Cytokinetic diversity in mammalian cells is revealed by the characterization of endogenous anillin, Ect2 and RhoA.
Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
Title: Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
Low Expression of ECT2 Confers Radiation Therapy Resistance Through Transcription Coupled Nucleolar DNA Damage Repair.
Title: Low Expression of ECT2 Confers Radiation Therapy Resistance Through Transcription Coupled Nucleolar DNA Damage Repair.
The BRCT domains of ECT2 have distinct functions during cytokinesis.
Title: The BRCT domains of ECT2 have distinct functions during cytokinesis.
Epithelial cell transforming factor ECT2 is an important regulator of DNA double-strand break repair and genome stability.
Title: Epithelial cell transforming factor ECT2 is an important regulator of DNA double-strand break repair and genome stability.
ECT2 overexpression promotes the polarization of tumor-associated macrophages in hepatocellular carcinoma via the ECT2/PLK1/PTEN pathway.
Title: ECT2 overexpression promotes the polarization of tumor-associated macrophages in hepatocellular carcinoma via the ECT2/PLK1/PTEN pathway.

Submit: New GeneRIF Correction See all GeneRIFs (86)

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G30172 (e-PCR)
- UniSTS:20008

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-145115 (e-PCR)
- UniSTS:174399

RH121430 (e-PCR)
- UniSTS:138083

RH91521 (e-PCR)
- UniSTS:86373

D10S16 (e-PCR)
- UniSTS:155756

D3S1556 (e-PCR), detects polymorphism
- UniSTS:57712

D15S1477 (e-PCR)
- UniSTS:474482

D1S1425 (e-PCR)
- UniSTS:149621

RH102307 (e-PCR)
- UniSTS:96641

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in mitotic cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in positive regulation of cytokinesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cytokinetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of attachment of spindle microtubules to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytokinesis, actomyosin contractile ring assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
part_of centralspindlin complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cleavage furrow	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein ECT2

Names: epithelial cell-transforming sequence 2 oncogene

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.

mRNA and Protein(s)

NM_001258315.2 → NP_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

Q0MT80, Q2M269, Q6U836, Q9H8V3, Q9NSV8, Q9NVW9

Related

ENSP00000376457.3, ENST00000392692.8

Conserved Domains (4) summary

smart00325
Location:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001258316.2 → NP_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:425 → 609

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:600 → 773

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:235 → 310

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:148 → 211

PTCB-BRCT; twin BRCT domain
NM_001349094.2 → NP_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:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001349095.2 → NP_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:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001349096.2 → NP_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:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001349097.2 → NP_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:455 → 639

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:630 → 803

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:265 → 340

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:178 → 241

PTCB-BRCT; twin BRCT domain
NM_001349098.2 → NP_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

UniProtKB/Swiss-Prot

Q0MT80, Q2M269, Q6U836, Q9H8V3, Q9NSV8, Q9NVW9

Conserved Domains (4) summary

smart00325
Location:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001349099.2 → NP_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

UniProtKB/Swiss-Prot

Q0MT80, Q2M269, Q6U836, Q9H8V3, Q9NSV8, Q9NVW9

Conserved Domains (4) summary

smart00325
Location:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001349100.2 → NP_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

UniProtKB/Swiss-Prot

Q0MT80, Q2M269, Q6U836, Q9H8V3, Q9NSV8, Q9NVW9

Conserved Domains (4) summary

smart00325
Location:456 → 640

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:631 → 804

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:266 → 341

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:179 → 242

PTCB-BRCT; twin BRCT domain
NM_001349101.2 → NP_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:425 → 609

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:600 → 773

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:235 → 310

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:148 → 211

PTCB-BRCT; twin BRCT domain
NM_001349102.2 → NP_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:424 → 608

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:599 → 772

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:234 → 309

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:147 → 210

PTCB-BRCT; twin BRCT domain
NM_001349103.2 → NP_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:396 → 580

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:571 → 744

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

cd17732
Location:239 → 318

BRCT_Ect2_rpt2; second BRCT domain of epithelial cell-transforming sequence 2 protein (ECT2) and similar proteins

cd17733
Location:145 → 220

BRCT_Ect2_rpt1; first BRCT domain of epithelial cell-transforming sequence 2 protein (ECT2) and similar proteins
NM_001349104.2 → NP_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:396 → 580

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:571 → 744

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

cd17732
Location:239 → 318

BRCT_Ect2_rpt2; second BRCT domain of epithelial cell-transforming sequence 2 protein (ECT2) and similar proteins

cd17733
Location:145 → 220

BRCT_Ect2_rpt1; first BRCT domain of epithelial cell-transforming sequence 2 protein (ECT2) and similar proteins
NM_018098.6 → NP_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:425 → 609

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01229
Location:600 → 773

PH_Ect2; Epithelial cell transforming 2 (Ect2) pleckstrin homology (PH) domain

pfam00533
Location:235 → 310

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:148 → 211

PTCB-BRCT; twin BRCT domain