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    RELL2 RELT like 2 [ Homo sapiens (human) ]

    Gene ID: 285613, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RELL2provided by HGNC
    Official Full Name
    RELT like 2provided by HGNC
    Primary source
    HGNC:HGNC:26902
    See related
    Ensembl:ENSG00000164620 MIM:611213; AllianceGenome:HGNC:26902
    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
    C5orf16
    Summary
    Predicted to enable collagen binding activity. Involved in positive regulation of p38MAPK cascade. Predicted to be located in basement membrane and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 5.1), lymph node (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RELL2 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (141636997..141641064)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142163003..142167070)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141016564..141020631)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene diaphanous related formin 1 Neighboring gene RPS27A pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23308 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:140998145-140998341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23309 Neighboring gene Sharpr-MPRA regulatory region 64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23311 Neighboring gene histone deacetylase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141029007-141029585 Neighboring gene FCH and double SH3 domains 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:141037429-141038628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16459 Neighboring gene ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141053759-141054426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141054427-141055095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141071853-141072386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141072387-141072920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141080718-141081218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23312 Neighboring gene uncharacterized LOC124901092 Neighboring gene uncharacterized LOC124901093

    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
    • 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. Comprehensive Analysis of RELL2 as a Potential Biomarker Associated with Tumor Immune Infiltrating Cells in a Pan-Cancer Analysis. Musha K, et al. Dis Markers, 2022. PMID 35634441, Free PMC Article
    2. RELT induces cellular death in HEK 293 epithelial cells. Cusick JK, et al. Cell Immunol, 2010. PMID 19969290, Free PMC Article
    3. Identification of RELT homologues that associate with RELT and are phosphorylated by OSR1. Cusick JK, et al. Biochem Biophys Res Commun, 2006 Feb 10. PMID 16389068
    4. Identification of PLSCR1 as a protein that interacts with RELT family members. Cusick JK, et al. Mol Cell Biochem, 2012 Mar. PMID 22052202
    5. RELT family members activate p38 and induce apoptosis by a mechanism distinct from TNFR1. Moua P, et al. Biochem Biophys Res Commun, 2017 Sep 9. PMID 28688764, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive Analysis of RELL2 as a Potential Biomarker Associated with Tumor Immune Infiltrating Cells in a Pan-Cancer Analysis.
      Title: Comprehensive Analysis of RELL2 as a Potential Biomarker Associated with Tumor Immune Infiltrating Cells in a Pan-Cancer Analysis.
    2. report that overexpression of RELT or its homologues RELL1 and RELL2 in HEK 293 epithelial cells results in cell death with morphological characteristics consistent with the activation of an apoptotic pathway.
      Title: RELT induces cellular death in HEK 293 epithelial cells.
    3. Binds to the TNF receptor family member RELT; homologue of RELT.
      Title: Identification of RELT homologues that associate with RELT and are phosphorylated by OSR1.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90583

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell-substrate adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of p38MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of p38MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    RELT-like protein 2
    Names
    receptor expressed in lymphoid tissues like 2

    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_001130029.2 → NP_001123501.1  RELT-like protein 2

      See identical proteins and their annotated locations for NP_001123501.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AK054889, AK075064, AY358163, BC027919, BC063469
      Consensus CDS
      CCDS4265.1
      UniProtKB/Swiss-Prot
      D3DQE2, Q6P4E7, Q6UXY2, Q8NC24
      Related
      ENSP00000409443.1, ENST00000444782.5
      Conserved Domains (1) summary
      pfam12606
      Location:28 → 60
      RELT; tumor necrosis factor receptor superfamily member 19

    2. NM_173828.5 → NP_776189.3  RELT-like protein 2

      See identical proteins and their annotated locations for NP_776189.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AK054889, AK075064, AY358163
      Consensus CDS
      CCDS4265.1
      UniProtKB/Swiss-Prot
      D3DQE2, Q6P4E7, Q6UXY2, Q8NC24
      Related
      ENSP00000297164.3, ENST00000297164.8
      Conserved Domains (1) summary
      pfam12606
      Location:28 → 60
      RELT; tumor necrosis factor receptor superfamily member 19

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      141636997..141641064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537625.4 → XP_011535927.1  RELT-like protein 2 isoform X2

      Conserved Domains (1) summary
      pfam12606
      Location:28 → 60
      RELT; Tumour necrosis factor receptor superfamily member 19

    2. XM_011537624.3 → XP_011535926.1  RELT-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011535926.1

      Conserved Domains (1) summary
      pfam12606
      Location:28 → 60
      RELT; Tumour necrosis factor receptor superfamily member 19

    3. XM_005268414.5 → XP_005268471.1  RELT-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005268471.1

      Conserved Domains (1) summary
      pfam12606
      Location:28 → 60
      RELT; Tumour necrosis factor receptor superfamily member 19

    4. XM_047417113.1 → XP_047273069.1  RELT-like protein 2 isoform X3

      UniProtKB/Swiss-Prot
      D3DQE2, Q6P4E7, Q6UXY2, Q8NC24

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      142163003..142167070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352436.1 → XP_054208411.1  RELT-like protein 2 isoform X2

    2. XM_054352434.1 → XP_054208409.1  RELT-like protein 2 isoform X1

    3. XM_054352437.1 → XP_054208412.1  RELT-like protein 2 isoform X3

    4. XM_054352435.1 → XP_054208410.1  RELT-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NC24.1 GenPept UniProtKB/Swiss-Prot:Q8NC24

    Gene LinkOut

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

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