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PNMA6F PNMA family member 6F [ Homo sapiens (human) ]

Gene ID: 105373377, updated on 13-Mar-2024

Summary

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Official Symbol
PNMA6Fprovided by HGNC
Official Full Name
PNMA family member 6Fprovided by HGNC
Primary source
HGNC:HGNC:53119
See related
Ensembl:ENSG00000225110 AllianceGenome:HGNC:53119
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
PNMA6BL
Expression
Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 1 other tissue See more
Orthologs
all
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Genomic context

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Location:
Xq28
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153317680..153321767, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151585209..151589296, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152583138..152587225, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373373 Neighboring gene PWWP domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21060 Neighboring gene Sharpr-MPRA regulatory region 13180 Neighboring gene microRNA 12129 Neighboring gene zinc finger protein 275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:152612756-152613256 Neighboring gene small nucleolar RNA U13

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. JUMPg: An Integrative Proteogenomics Pipeline Identifying Unannotated Proteins in Human Brain and Cancer Cells. Li Y, et al. J Proteome Res, 2016 Jul 1. PMID 27225868, Free PMC Article
  2. Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow. Wright JC, et al. Nat Commun, 2016 Jun 2. PMID 27250503, Free PMC Article
  3. Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Mallon AM, et al. Genome Res, 2000 Jun. PMID 10854409, 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)

Genotypes

General gene information

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Homology

General protein information

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Preferred Names
paraneoplastic antigen Ma6F
Names
paraneoplastic Ma antigen family member 6F
paraneoplastic antigen-like protein 6B

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_001354980.2 → NP_001341909.1  paraneoplastic antigen Ma6F

    Status: VALIDATED

    Source sequence(s)
    AC152008, AC152009
    Consensus CDS
    CCDS87792.1
    UniProtKB/Swiss-Prot
    A0A0J9YX94
    Related
    ENSP00000488302.1, ENST00000436629.3
    Conserved Domains (2) summary
    PHA03169
    Location:431 → 576
    PHA03169; hypothetical protein; Provisional
    pfam14893
    Location:1 → 416
    PNMA; PNMA

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153317680..153321767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    151585209..151589296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0J9YX94.1 GenPept UniProtKB/Swiss-Prot:A0A0J9YX94

Gene LinkOut

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Molecular Biology Databases
Research Materials