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    ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 [ Homo sapiens (human) ]

    Gene ID: 222223, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ELAPOR2provided by HGNC
    Official Full Name
    endosome-lysosome associated apoptosis and autophagy regulator family member 2provided by HGNC
    Primary source
    HGNC:HGNC:21945
    See related
    Ensembl:ENSG00000164659 MIM:614048; AllianceGenome:HGNC:21945
    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
    EIG121L; KIAA1324L
    Summary
    Predicted to enable BMP receptor binding activity. Predicted to be involved in negative regulation of nervous system development; positive regulation of BMP signaling pathway; and positive regulation of epidermis development. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in lung (RPKM 7.6), brain (RPKM 5.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELAPOR2 in Genome Data Viewer
    Location:
    7q21.12
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (86876906..87059654, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (88126808..88309723, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (86506222..86688970, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene suppressor of cytokine signaling 5 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:85958016-85958801 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:85969252-85969876 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:85969877-85970501 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:86176787-86177986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:86337538-86338062 Neighboring gene glutamate metabotropic receptor 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:86389511-86390085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26223 Neighboring gene GRM3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86578298-86578835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26225 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86578836-86579372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18340 Neighboring gene MPRA-validated peak6623 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:86687932-86688432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18342 Neighboring gene MPRA-validated peak6624 silencer Neighboring gene uncharacterized LOC124901689 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:86758408-86759168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86780839-86781402 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86781403-86781964 Neighboring gene DMTF1 antisense RNA 1 Neighboring gene cyclin D binding myb like transcription factor 1

    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. Expression of estrogen induced gene 121-like (EIG121L) during early Xenopus development. Araki T, et al. Gene Expr Patterns, 2007 Jun. PMID 17475571
    2. 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
    3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    4. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142
    5. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Similar to EIG121L gene, expressed in various organs of Xenopus during development.
      Title: Expression of estrogen induced gene 121-like (EIG121L) during early Xenopus development.
    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

    Clone Names

    • FLJ31340

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    EIG121-like
    KIAA1324 like
    UPF0577 protein KIAA1324-like
    estrogen-induced gene 121-like protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001142749.3 → NP_001136221.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001136221.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC002081, AK296250, BM675231, BX346336, DB502291, DY654933
      Consensus CDS
      CCDS47632.1
      UniProtKB/Swiss-Prot
      A4D1C9, A8MWY0, B4DJV3, Q17RI6, Q96DP2
      UniProtKB/TrEMBL
      C9JA41
      Related
      ENSP00000413445.2, ENST00000450689.7
      Conserved Domains (1) summary
      pfam07699
      Location:402 → 432
      GCC2_GCC3; GCC2 and GCC3

    2. NM_001291990.1 → NP_001278919.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 3

      See identical proteins and their annotated locations for NP_001278919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC002081, AK303619, BM675231
      UniProtKB/TrEMBL
      B4E116
      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      GCC2_GCC3; GCC2 and GCC3

    3. NM_001291991.2 → NP_001278920.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 4

      See identical proteins and their annotated locations for NP_001278920.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC002081, AK055902, AK303619, BM675231
      UniProtKB/TrEMBL
      B4E116
      Conserved Domains (1) summary
      pfam07699
      Location:162 → 192
      GCC2_GCC3; GCC2 and GCC3

    4. NM_152748.4 → NP_689961.3  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform 2

      See identical proteins and their annotated locations for NP_689961.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 5' UTR and 5' coding region, compared to variant 1. These differences result in a protein (isoform 2) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC002081, AK296250, BM675231, DA240191
      Consensus CDS
      CCDS34677.2
      UniProtKB/TrEMBL
      B4E116
      Related
      ENSP00000402390.1, ENST00000416314.5
      Conserved Domains (1) summary
      pfam07699
      Location:235 → 265
      GCC2_GCC3; GCC2 and GCC3

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      86876906..87059654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515918.3 → XP_011514220.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X2

      UniProtKB/TrEMBL
      B4E116
      Conserved Domains (1) summary
      pfam07699
      Location:347 → 377
      GCC2_GCC3; GCC2 and GCC3

    2. XM_011515921.2 → XP_011514223.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X4

      See identical proteins and their annotated locations for XP_011514223.1

      UniProtKB/TrEMBL
      B4E116
      Related
      ENSP00000406961.1, ENST00000423294.5
      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      GCC2_GCC3; GCC2 and GCC3

    3. XM_017011843.2 → XP_016867332.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X3

      UniProtKB/TrEMBL
      C9JA41

    4. XM_047420042.1 → XP_047275998.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X4

    5. XM_006715894.4 → XP_006715957.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X4

      See identical proteins and their annotated locations for XP_006715957.1

      UniProtKB/TrEMBL
      B4E116
      Conserved Domains (1) summary
      pfam07699
      Location:288 → 318
      GCC2_GCC3; GCC2 and GCC3

    6. XM_024446686.2 → XP_024302454.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X5

    7. XM_047420041.1 → XP_047275997.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      88126808..88309723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357571.1 → XP_054213546.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X2

    2. XM_054357575.1 → XP_054213550.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X4

    3. XM_054357572.1 → XP_054213547.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X3

    4. XM_054357574.1 → XP_054213549.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X4

    5. XM_054357573.1 → XP_054213548.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X4

    6. XM_054357576.1 → XP_054213551.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X5

    7. XM_054357570.1 → XP_054213545.1  endosome/lysosome-associated apoptosis and autophagy regulator family member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MWY0.2 GenPept UniProtKB/Swiss-Prot:A8MWY0

    Gene LinkOut

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

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