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

    Gene ID: 345930, updated on 2-Nov-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. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ECT2L in Genome Data Viewer
    Location:
    6q24.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138796087..138904070)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139984635..140092615)
    RS_2024_09 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 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_2024_08

    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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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