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

Gene ID: 345930, updated on 22-Sep-2022

Summary

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

See ECT2L in Genome Data Viewer
Location:
6q24.1
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138796087..138904070)
110 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 coiled-coil domain containing 28A Neighboring gene ACKR4 pseudogene 1 Neighboring gene U6 spliceosomal RNA Neighboring gene uncharacterized LOC107986650 Neighboring gene RALBP1 associated Eps domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 12009 Neighboring gene ABRA C-terminal like Neighboring gene Sharpr-MPRA regulatory region 5517

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001077706.3NP_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
    Q008S8, Q5JWK4
    Related
    ENSP00000442307.2, ENST00000541398.7
    Conserved Domains (4) summary
    pfam00621
    Location:570752
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81118
    F-box-like; F-box-like
    pfam14252
    Location:292459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:810904
    PH-like; Pleckstrin homology-like domain
  2. NM_001195037.2NP_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
    Q008S8, Q5JWK4
    Related
    ENSP00000356655.2, ENST00000367682.6
    Conserved Domains (4) summary
    pfam00621
    Location:570752
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81118
    F-box-like; F-box-like
    pfam14252
    Location:292459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:810904
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017010828.2XP_016866317.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

    Conserved Domains (4) summary
    pfam00621
    Location:612795
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81118
    F-box-like; F-box-like
    pfam14252
    Location:292459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:852946
    PH-like; Pleckstrin homology-like domain
  2. XM_006715472.4XP_006715535.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

    See identical proteins and their annotated locations for XP_006715535.1

    Conserved Domains (4) summary
    pfam00621
    Location:612795
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81118
    F-box-like; F-box-like
    pfam14252
    Location:292459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:852946
    PH-like; Pleckstrin homology-like domain
  3. XM_017010829.2XP_016866318.1  epithelial cell-transforming sequence 2 oncogene-like isoform X2

    Conserved Domains (2) summary
    smart00325
    Location:581764
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cl17171
    Location:821915
    PH-like; Pleckstrin homology-like domain
  4. XM_011535795.3XP_011534097.1  epithelial cell-transforming sequence 2 oncogene-like isoform X1

    See identical proteins and their annotated locations for XP_011534097.1

    Conserved Domains (4) summary
    pfam00621
    Location:612795
    RhoGEF; RhoGEF domain
    pfam12937
    Location:81118
    F-box-like; F-box-like
    pfam14252
    Location:292459
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:852946
    PH-like; Pleckstrin homology-like domain
  5. XM_017010830.2XP_016866319.1  epithelial cell-transforming sequence 2 oncogene-like isoform X4

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

    Conserved Domains (4) summary
    pfam00621
    Location:543726
    RhoGEF; RhoGEF domain
    pfam12937
    Location:1249
    F-box-like; F-box-like
    pfam14252
    Location:223390
    DUF4347; Domain of unknown function (DUF4347)
    cl17171
    Location:783877
    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)