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PNMA6E PNMA family member 6E [ Homo sapiens (human) ]

Gene ID: 649238, updated on 5-Mar-2024

Summary

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Official Symbol
PNMA6Eprovided by HGNC
Official Full Name
PNMA family member 6Eprovided by HGNC
Primary source
HGNC:HGNC:50767
See related
Ensembl:ENSG00000214897 AllianceGenome:HGNC:50767
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
Orthologs
all
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Genomic context

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See PNMA6E in Genome Data Viewer
Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153395639..153414004, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151669233..151687464, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152661097..152666808, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 275 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105373378 Neighboring gene uncharacterized LOC105373379 Neighboring gene RNA, 7SL, cytoplasmic 667, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21062 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152677238-152677448 Neighboring gene ZFP92 zinc finger protein Neighboring gene three prime repair exonuclease 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152726424-152726582 Neighboring gene HAUS augmin like complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30034 Neighboring gene Sharpr-MPRA regulatory region 9358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152741433-152741972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152742168-152742668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152742669-152743169 Neighboring gene extracellular matrix protein X-linked, pseudogene

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. 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

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 Ma6E
Names
paraneoplastic Ma antigen family member 6E
putative paraneoplastic antigen-like protein 6B-like

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_001351293.2 → NP_001338222.1  paraneoplastic antigen Ma6E isoform 1

    Status: VALIDATED

    Source sequence(s)
    BX111592, BX469942, HY005619, U82695
    Consensus CDS
    CCDS87793.1
    UniProtKB/TrEMBL
    A0A0J9YXH5
    Related
    ENSP00000488404.1, ENST00000633844.1
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 206
    PNMA

  2. NM_001351294.2 → NP_001338223.1  paraneoplastic antigen Ma6E isoform 1

    Status: VALIDATED

    Source sequence(s)
    BX111592, BX469942, HY031436, U82695
    Consensus CDS
    CCDS87793.1
    UniProtKB/TrEMBL
    A0A0J9YXH5
    Conserved Domains (1) summary
    pfam14893
    Location:1 → 206
    PNMA

  3. NM_001367770.1 → NP_001354699.1  paraneoplastic antigen Ma6E isoform 2

    Status: VALIDATED

    Source sequence(s)
    BX469942, HY051803, HY237141, U82695
    Consensus CDS
    CCDS94694.1
    UniProtKB/Swiss-Prot
    A0A0J9YXQ4
    Related
    ENSP00000488500.1, ENST00000445091.3

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
    153395639..153414004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442374.1 → XP_047298330.1  paraneoplastic antigen Ma6E isoform X1

    UniProtKB/Swiss-Prot
    A0A0J9YXQ4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    151669233..151687464 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327593.1 → XP_054183568.1  paraneoplastic antigen Ma6E isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0J9YXQ4.1 GenPept UniProtKB/Swiss-Prot:A0A0J9YXQ4

Gene LinkOut

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