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    Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 231014, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Elapor2provided by MGI
    Official Full Name
    endosome-lysosome associated apoptosis and autophagy regulator family member 2provided by MGI
    Primary source
    MGI:MGI:2443264
    See related
    Ensembl:ENSMUSG00000056004 AllianceGenome:MGI:2443264
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Eig121l; 9330182L06Rik
    Summary
    Predicted to enable BMP receptor binding activity. Involved in positive regulation of BMP signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in membrane. Orthologous to human ELAPOR2 (endosome-lysosome associated apoptosis and autophagy regulator family member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in CNS E18 (RPKM 7.5), cerebellum adult (RPKM 4.5) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Elapor2 in Genome Data Viewer
    Location:
    5 A1; 5 3.69 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (9316100..9534663)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (9266099..9484663)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 24666 Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene Neighboring gene STARR-seq mESC enhancer starr_12413 Neighboring gene STARR-seq mESC enhancer starr_12414 Neighboring gene microRNA 879 Neighboring gene STARR-seq mESC enhancer starr_12415 Neighboring gene glutamate receptor, metabotropic 3 Neighboring gene STARR-seq mESC enhancer starr_12416 Neighboring gene STARR-seq mESC enhancer starr_12417 Neighboring gene predicted gene, 23312

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A transmembrane protein EIG121L is required for epidermal differentiation during early embryonic development. Araki T, et al. J Biol Chem, 2011 Feb 25. PMID 21177533, Free PMC Article
    2. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
    3. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    4. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    5. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    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 MGI

    Function Evidence Code Pubs
    enables BMP receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    endosome/lysosome-associated apoptosis and autophagy regulator family member 2
    Names
    UPF0577 protein KIAA1324-like homolog
    estrogen-induced gene 121-like protein

    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_001359884.1 → NP_001346813.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC157555, AC157783, AC158121
      Consensus CDS
      CCDS89878.1
      Related
      ENSMUSP00000121757.2, ENSMUST00000134991.8
      Conserved Domains (1) summary
      pfam07699
      Location:401 → 431
      Ephrin_rec_like; Putative ephrin-receptor like

    2. NM_001359885.1 → NP_001346814.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC157555, AC157783, AC158121
      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      Ephrin_rec_like; Putative ephrin-receptor like

    3. NM_001359886.1 → NP_001346815.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC157555, AC157783, AC158121
      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      Ephrin_rec_like; Putative ephrin-receptor like

    4. NM_001359887.1 → NP_001346816.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC157783, AC158121
      Related
      ENSMUST00000131626.2

    5. NM_172706.4 → NP_766294.2  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_766294.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC157555, AC157783, AC158121
      Consensus CDS
      CCDS19089.1
      UniProtKB/Swiss-Prot
      Q3UZV7, Q8BJM9, Q8BJN9, Q8BJT7, Q8BKX9, Q8BL89, Q8BLT1, Q8BM91
      UniProtKB/TrEMBL
      B9EHI9
      Related
      ENSMUSP00000069165.8, ENSMUST00000069538.14
      Conserved Domains (1) summary
      pfam07699
      Location:401 → 431
      GCC2_GCC3; GCC2 and GCC3

    RNA

    1. NR_153370.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC157555, AC157783, AC158121
      Related
      ENSMUST00000152095.8

    2. NR_153371.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC157555, AC157783, AC158121

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      9316100..9534663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254371.2 → XP_030110231.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X1

      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      Ephrin_rec_like; Putative ephrin-receptor like

    2. XM_030254372.2 → XP_030110232.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X2

      Conserved Domains (1) summary
      pfam07699
      Location:176 → 206
      Ephrin_rec_like; Putative ephrin-receptor like

    3. XM_036165008.1 → XP_036020901.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X1

      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      Ephrin_rec_like; Putative ephrin-receptor like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UZV7.1 GenPept UniProtKB/Swiss-Prot:Q3UZV7

    Gene LinkOut

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

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