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    RGMA repulsive guidance molecule BMP co-receptor a [ Homo sapiens (human) ]

    Gene ID: 56963, updated on 7-Jul-2019

    Summary

    Official Symbol
    RGMAprovided by HGNC
    Official Full Name
    repulsive guidance molecule BMP co-receptor aprovided by HGNC
    Primary source
    HGNC:HGNC:30308
    See related
    Ensembl:ENSG00000182175 MIM:607362
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RGM
    Summary
    This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in brain (RPKM 32.8), endometrium (RPKM 14.6) and 13 other tissues See more
    Orthologs

    Genomic context

    See RGMA in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (93035271..93089211, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (93586636..93632443, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1578 Neighboring gene microRNA 3175 Neighboring gene chromodomain helicase DNA binding protein 2 Neighboring gene Y-box binding protein 2 pseudogene Neighboring gene uncharacterized LOC101927025 Neighboring gene putative uncharacterized protein UNQ9370/PRO34162

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    NHGRI GWA Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    NHGRI GWA Catalog
    New susceptibility loci associated with kidney disease in type 1 diabetes.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
      Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
    • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
      Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    coreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    repulsive guidance molecule A
    Names
    RGM domain family, member A
    repulsive guidance molecule family member a

    NCBI Reference Sequences (RefSeq)

    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_001166283.1NP_001159755.1  repulsive guidance molecule A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform 1.
      Source sequence(s)
      AC087641, AK299363, DC317516
      Consensus CDS
      CCDS53974.1
      UniProtKB/Swiss-Prot
      Q96B86
      UniProtKB/TrEMBL
      A0A0A0MTQ4
      Related
      ENSP00000452126.1, ENST00000557301.2
      Conserved Domains (2) summary
      pfam06534
      Location:234419
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:56229
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    2. NM_001166286.2NP_001159758.1  repulsive guidance molecule A isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 5 and 6 encode the same isoform (2).
      Source sequence(s)
      AC013394, AC087641, BC015886, DA453869, KF456122
      Consensus CDS
      CCDS53973.1
      UniProtKB/Swiss-Prot
      Q96B86
      Related
      ENSP00000440025.2, ENST00000542321.6
      Conserved Domains (2) summary
      pfam06534
      Location:210395
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:32205
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    3. NM_001166287.1NP_001159759.1  repulsive guidance molecule A isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 5 and 6 encode the same isoform (2).
      Source sequence(s)
      AC087641, AL136826, DA183348, KF456122
      Consensus CDS
      CCDS53973.1
      UniProtKB/Swiss-Prot
      Q96B86
      Related
      ENSP00000442498.1, ENST00000543599.5
      Conserved Domains (2) summary
      pfam06534
      Location:210395
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:32205
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    4. NM_001166288.2NP_001159760.1  repulsive guidance molecule A isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159760.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 5 and 6 encode the same isoform (2).
      Source sequence(s)
      AC013394, AC087641, BC140838, DA512691
      Consensus CDS
      CCDS53973.1
      UniProtKB/Swiss-Prot
      Q96B86
      Conserved Domains (2) summary
      pfam06534
      Location:210395
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:32205
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    5. NM_001166289.1NP_001159761.1  repulsive guidance molecule A isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159761.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 5 and 6 encode the same isoform (2).
      Source sequence(s)
      AC087641, BC140838, DA295545, DA512691
      Consensus CDS
      CCDS53973.1
      UniProtKB/Swiss-Prot
      Q96B86
      Related
      ENSP00000404442.2, ENST00000425933.6
      Conserved Domains (2) summary
      pfam06534
      Location:210395
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:32205
      RGM_N; Repulsive guidance molecule (RGM) N-terminus
    6. NM_020211.3NP_064596.2  repulsive guidance molecule A isoform 3

      See identical proteins and their annotated locations for NP_064596.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC013394, AC087641, AL136826, DA805034
      Consensus CDS
      CCDS45357.1
      UniProtKB/Swiss-Prot
      Q96B86
      Related
      ENSP00000330005.7, ENST00000329082.11
      Conserved Domains (2) summary
      pfam06534
      Location:226411
      RGM_C; Repulsive guidance molecule (RGM) C-terminus
      pfam06535
      Location:48221
      RGM_N; Repulsive guidance molecule (RGM) N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      93035271..93089211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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