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    LRRC74B leucine rich repeat containing 74B [ Homo sapiens (human) ]

    Gene ID: 400891, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LRRC74Bprovided by HGNC
    Official Full Name
    leucine rich repeat containing 74Bprovided by HGNC
    Primary source
    HGNC:HGNC:34301
    See related
    Ensembl:ENSG00000187905 AllianceGenome:HGNC:34301
    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
    Expression
    Biased expression in testis (RPKM 1.1), lung (RPKM 0.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q11.21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21045946..21064168)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21454733..21472942)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21400235..21418457)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene microRNA 649 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21395566-21395794 Neighboring gene purinergic receptor P2X 6 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21406651-21407164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21407165-21407676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21409882-21410414 Neighboring gene tubulin alpha 3g pseudogene Neighboring gene uncharacterized LOC112268300 Neighboring gene MPRA-validated peak4461 silencer

    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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 74B
    Names
    leucine-rich repeat-containing protein LOC400891

    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_001291006.2 → NP_001277935.1  leucine-rich repeat-containing protein 74B

      See identical proteins and their annotated locations for NP_001277935.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the protein.
      Source sequence(s)
      AC002472
      Consensus CDS
      CCDS77654.1
      UniProtKB/Swiss-Prot
      Q6ZQY2
      Related
      ENSP00000394078.2, ENST00000442047.3
      Conserved Domains (2) summary
      sd00033
      Location:109 → 136
      LRR_RI; leucine-rich repeat [structural motif]
      cl42388
      Location:57 → 357
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    RNA

    1. NR_027006.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains multiple differences in the internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most [supported/expected] translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC002472, AK128646, BC028231, BC036220

    2. NR_110991.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most [supported/expected] translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC002472
      Related
      ENST00000497328.5

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21045946..21064168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530175.2 → XP_011528477.1  leucine-rich repeat-containing protein 74B isoform X3

      See identical proteins and their annotated locations for XP_011528477.1

      Conserved Domains (2) summary
      cd00116
      Location:58 → 205
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:54 → 80
      LRR_RI; leucine-rich repeat [structural motif]

    2. XM_011530177.2 → XP_011528479.1  leucine-rich repeat-containing protein 74B isoform X3

      See identical proteins and their annotated locations for XP_011528479.1

      Conserved Domains (2) summary
      cd00116
      Location:58 → 205
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:54 → 80
      LRR_RI; leucine-rich repeat [structural motif]

    3. XM_011530176.3 → XP_011528478.1  leucine-rich repeat-containing protein 74B isoform X3

      See identical proteins and their annotated locations for XP_011528478.1

      Conserved Domains (2) summary
      cd00116
      Location:58 → 205
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:54 → 80
      LRR_RI; leucine-rich repeat [structural motif]

    4. XM_011530174.2 → XP_011528476.1  leucine-rich repeat-containing protein 74B isoform X3

      See identical proteins and their annotated locations for XP_011528476.1

      Conserved Domains (2) summary
      cd00116
      Location:58 → 205
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:54 → 80
      LRR_RI; leucine-rich repeat [structural motif]

    5. XM_047441362.1 → XP_047297318.1  leucine-rich repeat-containing protein 74B isoform X1

    6. XM_017028797.2 → XP_016884286.1  leucine-rich repeat-containing protein 74B isoform X2

    RNA

    1. XR_937849.2 RNA Sequence

    2. XR_937851.2 RNA Sequence

    3. XR_937858.2 RNA Sequence

    4. XR_937847.2 RNA Sequence

    5. XR_937859.2 RNA Sequence

    6. XR_937862.2 RNA Sequence

    7. XR_937856.2 RNA Sequence

    8. XR_937861.2 RNA Sequence

    9. XR_937860.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21454733..21472942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325610.1 → XP_054181585.1  leucine-rich repeat-containing protein 74B isoform X3

    2. XM_054325612.1 → XP_054181587.1  leucine-rich repeat-containing protein 74B isoform X3

    3. XM_054325611.1 → XP_054181586.1  leucine-rich repeat-containing protein 74B isoform X3

    4. XM_054325609.1 → XP_054181584.1  leucine-rich repeat-containing protein 74B isoform X3

    5. XM_054325607.1 → XP_054181582.1  leucine-rich repeat-containing protein 74B isoform X1

    6. XM_054325608.1 → XP_054181583.1  leucine-rich repeat-containing protein 74B isoform X2

    RNA

    1. XR_008485388.1 RNA Sequence

    2. XR_008485389.1 RNA Sequence

    3. XR_008485391.1 RNA Sequence

    4. XR_008485387.1 RNA Sequence

    5. XR_008485392.1 RNA Sequence

    6. XR_008485395.1 RNA Sequence

    7. XR_008485390.1 RNA Sequence

    8. XR_008485394.1 RNA Sequence

    9. XR_008485393.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001013675.1: Suppressed sequence

      Description
      NM_001013675.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZQY2.3 GenPept UniProtKB/Swiss-Prot:Q6ZQY2

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