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    PNMA8B PNMA family member 8B [ Homo sapiens (human) ]

    Gene ID: 57469, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PNMA8Bprovided by HGNC
    Official Full Name
    PNMA family member 8Bprovided by HGNC
    Primary source
    HGNC:HGNC:29206
    See related
    Ensembl:ENSG00000204851 MIM:620159; AllianceGenome:HGNC:29206
    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
    PNMAL2
    Orthologs
    mouse all
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    Genomic context

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    See PNMA8B in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46491191..46495867, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49316813..49321489, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46994448..46999124, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46929364-46929871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46929872-46930378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14841 Neighboring gene MPRA-validated peak3522 silencer Neighboring gene PNMA family member 8C Neighboring gene PNMA family member 8A Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47025347-47025526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10813 Neighboring gene PPP5 tetratricopeptide repeat domain containing 1, pseudogene Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 38 Neighboring gene MPRA-validated peak3525 silencer Neighboring gene MPRA-validated peak3526 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14843 Neighboring gene uncharacterized LOC124904729 Neighboring gene calmodulin 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    2. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. 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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    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

    • FLJ42730, KIAA1183

    General protein information

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    Preferred Names
    paraneoplastic antigen-like protein 8B
    Names
    PNMA-like 2
    PNMA-like protein 2
    paraneoplastic Ma antigen family like 2
    paraneoplastic Ma antigen family member 8B

    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_020709.3 → NP_065760.1  paraneoplastic antigen-like protein 8B

      See identical proteins and their annotated locations for NP_065760.1

      Status: VALIDATED

      Source sequence(s)
      AB033009, AC011484, AK124720, BF970252, BX390603, BX488737, DA015488, KF456590
      Consensus CDS
      CCDS59400.1
      UniProtKB/Swiss-Prot
      C9JGD5, M0R374, Q08E79, Q0D2F9, Q6ZVD1, Q9ULN7
      Related
      ENSP00000473036.1, ENST00000599531.2
      Conserved Domains (1) summary
      pfam14893
      Location:1 → 154
      PNMA; PNMA

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      46491191..46495867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      49316813..49321489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULN7.4 GenPept UniProtKB/Swiss-Prot:Q9ULN7

    Gene LinkOut

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

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