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ECT2L epithelial cell transforming 2 like [ Homo sapiens (human) ]

Gene ID: 345930, updated on 3-Apr-2024

Summary

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Official Symbol
ECT2Lprovided by HGNC
Official Full Name
epithelial cell transforming 2 likeprovided by HGNC
Primary source
HGNC:HGNC:21118
See related
Ensembl:ENSG00000203734 AllianceGenome:HGNC:21118
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
Also known as
LFDH; FBXO49; C6orf91; ARHGEF32; dJ509I19.2; dJ509I19.3; dJ509I19.5
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
6q24.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138796087..138904070)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139984635..140092615)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139117224..139225207)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CCDC28A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139093957-139094631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139094632-139095305 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90660 Neighboring gene coiled-coil domain containing 28A Neighboring gene MPRA-validated peak6155 silencer Neighboring gene U6 spliceosomal RNA Neighboring gene ACKR4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25164 Neighboring gene uncharacterized LOC107986650 Neighboring gene RALBP1 associated Eps domain containing 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:139298793-139299367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17602 Neighboring gene NANOG hESC enhancer GRCh37_chr6:139331747-139332499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17603 Neighboring gene Sharpr-MPRA regulatory region 12009 Neighboring gene ABRA C-terminal like Neighboring gene Sharpr-MPRA regulatory region 5517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139447769-139448270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25165 Neighboring gene Sharpr-MPRA regulatory region 4168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139484703-139485202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25168 Neighboring gene hdc homolog, cell cycle regulator Neighboring gene taxilin beta

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. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. Müller PM, et al. Nat Cell Biol, 2020 Apr. PMID 32203420
  2. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
  3. The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei. Nassa G, et al. Sci Data, 2019 Sep 16. PMID 31527615, Free PMC Article
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
epithelial cell-transforming sequence 2 oncogene-like
Names
ECT2-like
F-box protein 49
lung specific F-box and DH domain containing protein
putative guanine nucleotide exchange factor LFDH

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)

  1. NM_001077706.3 → NP_001071174.1  epithelial cell-transforming sequence 2 oncogene-like

    See identical proteins and their annotated locations for NP_001071174.1

    Status: VALIDATED

    Source sequence(s)
    AL121834
    Consensus CDS
    CCDS43508.1
    UniProtKB/Swiss-Prot
    B2RUV6, Q008S8, Q5JWK2, Q5JWK3, Q5JWK4
    UniProtKB/TrEMBL
    A0A2X0SFI5
    Related
    ENSP00000442307.2, ENST00000541398.7
    Conserved Domains (4) summary
    pfam00621
    Location:570 → 752
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81 → 118
    F-box-like; F-box-like
    pfam14252
    Location:292 → 459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:810 → 904
    PH-like; Pleckstrin homology-like domain

  2. NM_001195037.2 → NP_001181966.1  epithelial cell-transforming sequence 2 oncogene-like

    See identical proteins and their annotated locations for NP_001181966.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC146884, DC416153, DC418522, DQ904331
    Consensus CDS
    CCDS43508.1
    UniProtKB/Swiss-Prot
    B2RUV6, Q008S8, Q5JWK2, Q5JWK3, Q5JWK4
    UniProtKB/TrEMBL
    A0A2X0SFI5
    Related
    ENSP00000356655.2, ENST00000367682.6
    Conserved Domains (4) summary
    pfam00621
    Location:570 → 752
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81 → 118
    F-box-like; F-box-like
    pfam14252
    Location:292 → 459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:810 → 904
    PH-like; Pleckstrin homology-like 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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    138796087..138904070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010828.2 → XP_016866317.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

    UniProtKB/TrEMBL
    A0A2X0SFI5
    Conserved Domains (4) summary
    pfam00621
    Location:612 → 795
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81 → 118
    F-box-like; F-box-like
    pfam14252
    Location:292 → 459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:852 → 946
    PH-like; Pleckstrin homology-like domain

  2. XM_006715472.4 → XP_006715535.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

    See identical proteins and their annotated locations for XP_006715535.1

    UniProtKB/TrEMBL
    A0A2X0SFI5
    Conserved Domains (4) summary
    pfam00621
    Location:612 → 795
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81 → 118
    F-box-like; F-box-like
    pfam14252
    Location:292 → 459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:852 → 946
    PH-like; Pleckstrin homology-like domain

  3. XM_017010829.2 → XP_016866318.1  epithelial cell-transforming sequence 2 oncogene-like isoform X2

    UniProtKB/TrEMBL
    A0A2X0SFI5
    Conserved Domains (2) summary
    smart00325
    Location:581 → 764
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17171
    Location:821 → 915
    PH-like; Pleckstrin homology-like domain

  4. XM_011535795.3 → XP_011534097.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

    See identical proteins and their annotated locations for XP_011534097.1

    UniProtKB/TrEMBL
    A0A2X0SFI5
    Conserved Domains (4) summary
    pfam00621
    Location:612 → 795
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81 → 118
    F-box-like; F-box-like
    pfam14252
    Location:292 → 459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:852 → 946
    PH-like; Pleckstrin homology-like domain

  5. XM_017010830.2 → XP_016866319.1  epithelial cell-transforming sequence 2 oncogene-like isoform X4

  6. XM_011535797.3 → XP_011534099.1  epithelial cell-transforming sequence 2 oncogene-like isoform X3

    UniProtKB/TrEMBL
    A0A2X0SFI5
    Conserved Domains (4) summary
    pfam00621
    Location:543 → 726
    RhoGEF; RhoGEF domain
    pfam12937
    Location:12 → 49
    F-box-like; F-box-like
    pfam14252
    Location:223 → 390
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:783 → 877
    PH-like; Pleckstrin homology-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    139984635..140092615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355331.1 → XP_054211306.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

  2. XM_054355330.1 → XP_054211305.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

  3. XM_054355332.1 → XP_054211307.1  epithelial cell-transforming sequence 2 oncogene-like isoform X2

  4. XM_054355334.1 → XP_054211309.1  epithelial cell-transforming sequence 2 oncogene-like isoform X4

  5. XM_054355333.1 → XP_054211308.1  epithelial cell-transforming sequence 2 oncogene-like isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q008S8.2 GenPept UniProtKB/Swiss-Prot:Q008S8

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