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

Gene ID: 56963, updated on 24-Nov-2020

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
109.20201120 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 CHD2 adjacent suppressive regulatory RNA Neighboring gene microRNA 3175 Neighboring gene chromodomain helicase DNA binding protein 2 Neighboring gene uncharacterized LOC101927025 Neighboring gene YBX2 pseudogene 2 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
GeneReviews: Not available
New susceptibility loci associated with kidney disease in type 1 diabetes.
GeneReviews: Not available

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_001166287.2NP_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)
    AC013394, 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 Updated Annotation Release 109.20201120

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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