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    LENG8 leukocyte receptor cluster member 8 [ Homo sapiens (human) ]

    Gene ID: 114823, updated on 3-Apr-2024

    Summary

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    Official Symbol
    LENG8provided by HGNC
    Official Full Name
    leukocyte receptor cluster member 8provided by HGNC
    Primary source
    HGNC:HGNC:15500
    See related
    Ensembl:ENSG00000167615 MIM:616575; AllianceGenome:HGNC:15500
    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
    pp13842
    Summary
    Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 65.5), endometrium (RPKM 49.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.42
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54449199..54462016)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57542477..57555296)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54960377..54973196)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LIM domain-containing protein A-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54933359-54934162 Neighboring gene tweety family member 1 Neighboring gene Sharpr-MPRA regulatory region 3780 Neighboring gene LENG8 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54960127-54961034 Neighboring gene CDC42 effector protein 5 Neighboring gene leukocyte receptor cluster member 9 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55018677-55019177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55020667-55021482 Neighboring gene leukocyte associated immunoglobulin like receptor 2

    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. Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation. Farias TDJ, et al. Immunology, 2019 Jan. PMID 30216441, Free PMC Article
    2. Soluble bovine galactose-binding lectin. cDNA cloning reveals the complete amino acid sequence and an antigenic relationship with the major encephalitogenic domain of myelin basic protein. Abbott WM, et al. Biochem J, 1989 Apr 1. PMID 2470348, Free PMC Article
    3. Affinity proteomic dissection of the human nuclear cap-binding complex interactome. Dou Y, et al. Nucleic Acids Res, 2020 Oct 9. PMID 32960270, Free PMC Article
    4. Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster. Wende H, et al. Immunogenetics, 2000 Jul. PMID 10941842
    5. mRNA export through an additional cap-binding complex consisting of NCBP1 and NCBP3. Gebhardt A, et al. Nat Commun, 2015 Sep 18. PMID 26382858, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. genetic polymorphism is associated with pemphigus foliaceus
      Title: Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation.
    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

    • KIAA1932, MGC40108

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leukocyte receptor cluster member 8
    Names
    leukocyte receptor cluster (LRC) member 8

    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_001375638.1 → NP_001362567.1  leukocyte receptor cluster member 8 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC245884
      Consensus CDS
      CCDS92685.1
      UniProtKB/TrEMBL
      A0A087WUE4, A0A0G2JNN3
      Conserved Domains (2) summary
      pfam09770
      Location:126 → 266
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:567 → 757
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    2. NM_001375639.1 → NP_001362568.1  leukocyte receptor cluster member 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC245884
      UniProtKB/TrEMBL
      A0A0G2JNN3
      Conserved Domains (2) summary
      pfam09770
      Location:108 → 248
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:549 → 739
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    3. NM_001375640.1 → NP_001362569.1  leukocyte receptor cluster member 8 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC245884
      Consensus CDS
      CCDS92685.1
      UniProtKB/TrEMBL
      A0A087WUE4, A0A0G2JNN3
      Related
      ENSP00000478590.1, ENST00000610347.1
      Conserved Domains (2) summary
      pfam09770
      Location:126 → 266
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:567 → 757
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    4. NM_001375641.1 → NP_001362570.1  leukocyte receptor cluster member 8 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC245884
      Consensus CDS
      CCDS92685.1
      UniProtKB/TrEMBL
      A0A087WUE4, A0A0G2JNN3
      Conserved Domains (2) summary
      pfam09770
      Location:126 → 266
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:567 → 757
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    5. NM_001411063.1 → NP_001397992.1  leukocyte receptor cluster member 8 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC245884
      Consensus CDS
      CCDS92686.1
      UniProtKB/TrEMBL
      C9JMY0

    6. NM_052925.4 → NP_443157.1  leukocyte receptor cluster member 8 isoform 3

      See identical proteins and their annotated locations for NP_443157.1

      Status: VALIDATED

      Source sequence(s)
      BC028048, HY032958
      Consensus CDS
      CCDS12894.1
      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6
      Related
      ENSP00000318374.5, ENST00000326764.10
      Conserved Domains (2) summary
      pfam09770
      Location:126 → 266
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:567 → 778
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54449199..54462016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005278252.6 → XP_005278309.1  leukocyte receptor cluster member 8 isoform X2

      See identical proteins and their annotated locations for XP_005278309.1

      UniProtKB/TrEMBL
      A0A0G2JNN3, C9JMY0
      Conserved Domains (2) summary
      pfam03399
      Location:531 → 720
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam12346
      Location:426 → 512
      HJURP_mid; Holliday junction recognition protein-associated repeat

    2. XM_047438126.1 → XP_047294082.1  leukocyte receptor cluster member 8 isoform X5

    3. XM_006722997.5 → XP_006723060.1  leukocyte receptor cluster member 8 isoform X3

      See identical proteins and their annotated locations for XP_006723060.1

      UniProtKB/TrEMBL
      A0A0G2JNN3
      Conserved Domains (2) summary
      pfam03399
      Location:513 → 702
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam12346
      Location:408 → 494
      HJURP_mid; Holliday junction recognition protein-associated repeat

    4. XM_011526415.4 → XP_011524717.1  leukocyte receptor cluster member 8 isoform X4

      See identical proteins and their annotated locations for XP_011524717.1

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6
      Conserved Domains (2) summary
      pfam09770
      Location:126 → 266
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:567 → 778
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    5. XM_011526414.4 → XP_011524716.1  leukocyte receptor cluster member 8 isoform X2

      See identical proteins and their annotated locations for XP_011524716.1

      UniProtKB/TrEMBL
      A0A0G2JNN3, C9JMY0
      Related
      ENSP00000365697.3, ENST00000376514.6
      Conserved Domains (2) summary
      pfam03399
      Location:531 → 720
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam12346
      Location:426 → 512
      HJURP_mid; Holliday junction recognition protein-associated repeat

    6. XM_047438125.1 → XP_047294081.1  leukocyte receptor cluster member 8 isoform X5

    7. XM_005278250.6 → XP_005278307.1  leukocyte receptor cluster member 8 isoform X1

      See identical proteins and their annotated locations for XP_005278307.1

      UniProtKB/TrEMBL
      A0A0G2JNN3
      Conserved Domains (2) summary
      pfam09770
      Location:108 → 248
      PAT1; Topoisomerase II-associated protein PAT1
      cl24019
      Location:549 → 739
      CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

    8. XM_047438124.1 → XP_047294080.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    9. XM_047438127.1 → XP_047294083.1  leukocyte receptor cluster member 8 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      355711..368530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329658.1 → XP_054185633.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    2. XM_054329663.1 → XP_054185638.1  leukocyte receptor cluster member 8 isoform X5

    3. XM_054329659.1 → XP_054185634.1  leukocyte receptor cluster member 8 isoform X3

    4. XM_054329660.1 → XP_054185635.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    5. XM_054329657.1 → XP_054185632.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    6. XM_054329662.1 → XP_054185637.1  leukocyte receptor cluster member 8 isoform X5

    7. XM_054329656.1 → XP_054185631.1  leukocyte receptor cluster member 8 isoform X1

    8. XM_054329661.1 → XP_054185636.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    9. XM_054329664.1 → XP_054185639.1  leukocyte receptor cluster member 8 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      353885..366704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331484.1 → XP_054187459.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    2. XM_054331489.1 → XP_054187464.1  leukocyte receptor cluster member 8 isoform X5

    3. XM_054331485.1 → XP_054187460.1  leukocyte receptor cluster member 8 isoform X3

    4. XM_054331486.1 → XP_054187461.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    5. XM_054331483.1 → XP_054187458.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    6. XM_054331488.1 → XP_054187463.1  leukocyte receptor cluster member 8 isoform X5

    7. XM_054331482.1 → XP_054187457.1  leukocyte receptor cluster member 8 isoform X1

    8. XM_054331487.1 → XP_054187462.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    9. XM_054331490.1 → XP_054187465.1  leukocyte receptor cluster member 8 isoform X5

    RNA

    1. XR_008485718.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      431491..444310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333620.1 → XP_054189595.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    2. XM_054333625.1 → XP_054189600.1  leukocyte receptor cluster member 8 isoform X5

    3. XM_054333621.1 → XP_054189596.1  leukocyte receptor cluster member 8 isoform X3

    4. XM_054333622.1 → XP_054189597.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    5. XM_054333619.1 → XP_054189594.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    6. XM_054333624.1 → XP_054189599.1  leukocyte receptor cluster member 8 isoform X5

    7. XM_054333618.1 → XP_054189593.1  leukocyte receptor cluster member 8 isoform X1

    8. XM_054333623.1 → XP_054189598.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    9. XM_054333626.1 → XP_054189601.1  leukocyte receptor cluster member 8 isoform X5

    RNA

    1. XR_008485852.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57542477..57555296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319701.1 → XP_054175676.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    2. XM_054319706.1 → XP_054175681.1  leukocyte receptor cluster member 8 isoform X5

    3. XM_054319702.1 → XP_054175677.1  leukocyte receptor cluster member 8 isoform X3

    4. XM_054319703.1 → XP_054175678.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    5. XM_054319700.1 → XP_054175675.1  leukocyte receptor cluster member 8 isoform X2

      UniProtKB/TrEMBL
      C9JMY0

    6. XM_054319705.1 → XP_054175680.1  leukocyte receptor cluster member 8 isoform X5

    7. XM_054319704.1 → XP_054175679.1  leukocyte receptor cluster member 8 isoform X4

      UniProtKB/Swiss-Prot
      A0A087WTE7, B0VJY9, Q8IZ27, Q8NCX6, Q96PV6

    8. XM_054319707.1 → XP_054175682.1  leukocyte receptor cluster member 8 isoform X5

    RNA

    1. XR_008485078.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PV6.3 GenPept UniProtKB/Swiss-Prot:Q96PV6

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