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

Gene ID: 231014, updated on 2-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 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

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