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    GPM6A glycoprotein M6A [ Homo sapiens (human) ]

    Gene ID: 2823, updated on 10-Dec-2024

    Summary

    Official Symbol
    GPM6Aprovided by HGNC
    Official Full Name
    glycoprotein M6Aprovided by HGNC
    Primary source
    HGNC:HGNC:4460
    See related
    Ensembl:ENSG00000150625 MIM:601275; AllianceGenome:HGNC:4460
    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
    M6A; GPM6
    Summary
    Predicted to enable calcium channel activity. Involved in neuron migration and stem cell differentiation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 247.1) and lung (RPKM 8.5) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GPM6A in Genome Data Viewer
    Location:
    4q34.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (175632937..176002393, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (178971366..179340845, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (176554088..176923544, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tRNA splicing endonuclease subunit 2 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 20 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:176615671-176616237 Neighboring gene NANOG hESC enhancer GRCh37_chr4:176675181-176675733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22165 Neighboring gene GPM6A divergent transcript Neighboring gene uncharacterized LOC107984113 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:176826984-176827544 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:176896223-176896404 Neighboring gene MARK2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15814 Neighboring gene uncharacterized LOC124900182 Neighboring gene WD repeat domain 17

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1257 screens)

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    EBI GWAS Catalog
    Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein glycoprotein M6A (GPM6A) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport  
    involved_in neural retina development  
    involved_in neuron migration PubMed 
    involved_in neuron projection development  
    involved_in neuron projection morphogenesis  
    involved_in positive regulation of filopodium assembly  
    involved_in regulation of synapse organization  
    involved_in response to bacterium  
    involved_in stem cell differentiation PubMed 
    involved_in synapse assembly  
    Component Evidence Code Pubs
    is_active_in axonal growth cone  
    located_in axonal growth cone  
    located_in dendritic spine  
    located_in extracellular exosome PubMed 
    located_in extracellular vesicle PubMed 
    is_active_in filopodium  
    located_in filopodium  
    located_in glutamatergic synapse  
    located_in neuron projection  
    is_active_in neuronal cell body  
    located_in neuronal cell body  
    located_in parallel fiber to Purkinje cell synapse  
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in presynaptic active zone membrane  

    General protein information

    Preferred Names
    neuronal membrane glycoprotein M6-a

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001261447.2 → NP_001248376.2  neuronal membrane glycoprotein M6-a isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC110794
    2. NM_001261448.2 → NP_001248377.1  neuronal membrane glycoprotein M6-a isoform 4

      See identical proteins and their annotated locations for NP_001248377.1

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537
      Consensus CDS
      CCDS58936.1
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000423984.1, ENST00000515090.5
      Conserved Domains (1) summary
      pfam01275
      Location:7 → 240
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    3. NM_001388090.1 → NP_001375019.1  neuronal membrane glycoprotein M6-a isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537
      Conserved Domains (1) summary
      pfam01275
      Location:2 → 184
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    4. NM_001388091.1 → NP_001375020.1  neuronal membrane glycoprotein M6-a isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC093819
      Conserved Domains (1) summary
      pfam01275
      Location:2 → 184
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    5. NM_005277.5 → NP_005268.1  neuronal membrane glycoprotein M6-a isoform 1

      See identical proteins and their annotated locations for NP_005268.1

      Status: VALIDATED

      Source sequence(s)
      AI609188, BC010461, DA507772, DA915764
      Consensus CDS
      CCDS3824.1
      UniProtKB/Swiss-Prot
      B7Z642, E9PHI5, P51674, Q92602
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000280187.7, ENST00000280187.11
      Conserved Domains (1) summary
      pfam01275
      Location:14 → 247
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    6. NM_201591.3 → NP_963885.1  neuronal membrane glycoprotein M6-a isoform 1

      See identical proteins and their annotated locations for NP_963885.1

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537
      Consensus CDS
      CCDS3824.1
      UniProtKB/Swiss-Prot
      B7Z642, E9PHI5, P51674, Q92602
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000377268.2, ENST00000393658.7
      Conserved Domains (1) summary
      pfam01275
      Location:14 → 247
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
    7. NM_201592.3 → NP_963886.1  neuronal membrane glycoprotein M6-a isoform 3

      See identical proteins and their annotated locations for NP_963886.1

      Status: VALIDATED

      Source sequence(s)
      AI609188, AK226176, BC010461, DA507772
      Consensus CDS
      CCDS54822.1
      UniProtKB/TrEMBL
      Q86YB0
      Related
      ENSP00000421578.1, ENST00000506894.5
      Conserved Domains (1) summary
      pfam01275
      Location:3 → 236
      Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)

    RNA

    1. NR_048571.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093819, AC097537, AC110794

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      175632937..176002393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      178971366..179340845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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