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GPM6A glycoprotein M6A [ Homo sapiens (human) ]

Gene ID: 2823, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in brain (RPKM 247.1) and lung (RPKM 8.5) See more
Orthologs
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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: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in neural retina development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in axonal growth cone IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in axonal growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
is_active_in filopodium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 

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

    Status: VALIDATED

    Source sequence(s)
    AC093819, AC110794
  2. NM_001261448.2NP_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:7240
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  3. NM_001388090.1NP_001375019.1  neuronal membrane glycoprotein M6-a isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC093819, AC097537
    Conserved Domains (1) summary
    pfam01275
    Location:2184
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  4. NM_001388091.1NP_001375020.1  neuronal membrane glycoprotein M6-a isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC093819
    Conserved Domains (1) summary
    pfam01275
    Location:2184
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  5. NM_005277.5NP_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:14247
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  6. NM_201591.3NP_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:14247
    Myelin_PLP; Myelin proteolipid protein (PLP or lipophilin)
  7. NM_201592.3NP_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:3236
    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)