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PNMA8A PNMA family member 8A [ Homo sapiens (human) ]

Gene ID: 55228, updated on 23-Nov-2021

Summary

Official Symbol
PNMA8Aprovided by HGNC
Official Full Name
PNMA family member 8Aprovided by HGNC
Primary source
HGNC:HGNC:25578
See related
Ensembl:ENSG00000182013
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
PNMAL1
Expression
Biased expression in brain (RPKM 50.9), testis (RPKM 18.2) and 8 other tissues See more
Orthologs
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Genomic context

See PNMA8A in Genome Data Viewer
Location:
19q13.32
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (46466502..46471577, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46969760..46974820, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 8 Neighboring gene PNMA family member 8C Neighboring gene PNMA family member 8B Neighboring gene PPP5 tetratricopeptide repeat domain containing 1, pseudogene Neighboring gene paraneoplastic antigen-like protein 8B

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10781

General protein information

Preferred Names
paraneoplastic antigen-like protein 8A
Names
PNMA-like protein 1
paraneoplastic Ma antigen family like 1
paraneoplastic Ma antigen family member 8A

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_001103149.2NP_001096619.1  paraneoplastic antigen-like protein 8A isoform b

    See identical proteins and their annotated locations for NP_001096619.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1 that results in a frameshift. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL834344, BQ637225, BU844519, DA219062, DA325514
    Consensus CDS
    CCDS46124.1
    UniProtKB/Swiss-Prot
    Q86V59
    Related
    ENSP00000410273.1, ENST00000438932.2
    Conserved Domains (1) summary
    pfam14893
    Location:5360
    PNMA; PNMA
  2. NM_018215.4NP_060685.2  paraneoplastic antigen-like protein 8A isoform a

    See identical proteins and their annotated locations for NP_060685.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
    Source sequence(s)
    AL834344, BC032508, BC051688, BQ637225, BU844519, DA219062, DA325514
    Consensus CDS
    CCDS33059.1
    UniProtKB/Swiss-Prot
    Q86V59
    Related
    ENSP00000318131.10, ENST00000313683.15
    Conserved Domains (1) summary
    pfam14893
    Location:5360
    PNMA; PNMA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    46466502..46471577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527067.2XP_011525369.1  paraneoplastic antigen-like protein 8A isoform X1

    Conserved Domains (1) summary
    pfam14893
    Location:5360
    PNMA; PNMA
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