Human Gene RGMA (uc002bsr.2)
  Description: Homo sapiens RGM domain family, member A (RGMA), transcript variant 5, mRNA.
RefSeq Summary (NM_001166288): 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].
Transcript (Including UTRs)
   Position: hg19 chr15:93,586,636-93,616,939 Size: 30,304 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr15:93,588,228-93,595,540 Size: 7,313 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:93,586,636-93,616,939)mRNA (may differ from genome)Protein (341 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: RGMA_HUMAN
DESCRIPTION: RecName: Full=Repulsive guidance molecule A; AltName: Full=RGM domain family member A; Flags: Precursor;
FUNCTION: Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA-ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG-PTK2/FAK1 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inactivation by influencing HRAS1-PTK2/FAK1-AKT1 pathway. It also functions as a bone morphogenetic protein (BMP) coreceptor that may signal through SMAD1, SMAD5, and SMAD8.
SUBUNIT: Interacts with NEO1, BMP2 and BMP4 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor (By similarity).
SIMILARITY: Belongs to the repulsive guidance molecule (RGM) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RGMA
CDC HuGE Published Literature: RGMA
Positive Disease Associations: Basophils , Blood Pressure , Body Height , Body Weights and Measures
Related Studies:
  1. Basophils
    , , . [PubMed 0]
  2. Blood Pressure
    , , . [PubMed 0]
  3. Body Height
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: RGMA
Diseases sorted by gene-association score: leukemia, acute myeloid (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.94 RPKM in Esophagus - Muscularis
Total median expression: 630.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -255.20595-0.429 Picture PostScript Text
3' UTR -683.521592-0.429 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009496 - RGM_C
IPR010536 - RGM_N

Pfam Domains:
PF06534 - Repulsive guidance molecule (RGM) C-terminus
PF06535 - Repulsive guidance molecule (RGM) N-terminus

ModBase Predicted Comparative 3D Structure on Q96B86
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015026 coreceptor activity
GO:1990459 transferrin receptor binding

Biological Process:
GO:0010975 regulation of neuron projection development
GO:0030509 BMP signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048681 negative regulation of axon regeneration

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031225 anchored component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK074910 - Homo sapiens cDNA FLJ90429 fis, clone NT2RP3000645.
AK125047 - Homo sapiens cDNA FLJ43057 fis, clone BRTHA3007319.
AK074966 - Homo sapiens cDNA FLJ90485 fis, clone NT2RP3003076, highly similar to Repulsive guidance molecule A.
AL390083 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 363668.
BC015886 - Homo sapiens RGM domain family, member A, mRNA (cDNA clone IMAGE:3909548), partial cds.
AL136826 - Homo sapiens mRNA; cDNA DKFZp434D0727 (from clone DKFZp434D0727).
AK125204 - Homo sapiens cDNA FLJ43214 fis, clone FEBRA2021571, highly similar to Repulsive guidance molecule A precursor.
AK074980 - Homo sapiens cDNA FLJ90499 fis, clone NT2RP3004000.
JD282649 - Sequence 263673 from Patent EP1572962.
JD552547 - Sequence 533571 from Patent EP1572962.
JD211013 - Sequence 192037 from Patent EP1572962.
JD322191 - Sequence 303215 from Patent EP1572962.
JD411245 - Sequence 392269 from Patent EP1572962.
JD455397 - Sequence 436421 from Patent EP1572962.
JD104131 - Sequence 85155 from Patent EP1572962.
JD213593 - Sequence 194617 from Patent EP1572962.
JD216486 - Sequence 197510 from Patent EP1572962.
JD222307 - Sequence 203331 from Patent EP1572962.
JD394448 - Sequence 375472 from Patent EP1572962.
JD137223 - Sequence 118247 from Patent EP1572962.
JD143605 - Sequence 124629 from Patent EP1572962.
JD156106 - Sequence 137130 from Patent EP1572962.
JD398848 - Sequence 379872 from Patent EP1572962.
JD079963 - Sequence 60987 from Patent EP1572962.
JD425677 - Sequence 406701 from Patent EP1572962.
JD143579 - Sequence 124603 from Patent EP1572962.
JD414615 - Sequence 395639 from Patent EP1572962.
JD099795 - Sequence 80819 from Patent EP1572962.
JD129341 - Sequence 110365 from Patent EP1572962.
JD230426 - Sequence 211450 from Patent EP1572962.
BC140838 - Homo sapiens RGM domain family, member A, mRNA (cDNA clone MGC:176515 IMAGE:9021706), complete cds.
BC151132 - Homo sapiens RGM domain family, member A, mRNA (cDNA clone MGC:184044 IMAGE:9057032), complete cds.
JD117454 - Sequence 98478 from Patent EP1572962.
JD056996 - Sequence 38020 from Patent EP1572962.
JD230422 - Sequence 211446 from Patent EP1572962.
JD338168 - Sequence 319192 from Patent EP1572962.
JD183247 - Sequence 164271 from Patent EP1572962.
JD459290 - Sequence 440314 from Patent EP1572962.
AK299363 - Homo sapiens cDNA FLJ55481 complete cds, highly similar to Repulsive guidance molecule A precursor.
AK291365 - Homo sapiens cDNA FLJ77790 complete cds.
AK309814 - Homo sapiens cDNA, FLJ99855.
KJ899284 - Synthetic construct Homo sapiens clone ccsbBroadEn_08678 RGMA gene, encodes complete protein.
AB463222 - Synthetic construct DNA, clone: pF1KB8689, Homo sapiens RGMA gene for RGM domain family, member A, without stop codon, in Flexi system.
AM392685 - Synthetic construct Homo sapiens clone IMAGE:100001739 for hypothetical protein (RGMA gene).
BC146682 - Synthetic construct Homo sapiens clone IMAGE:100001739, MGC:165118 RGM domain family, member A (RGMA) mRNA, encodes complete protein.
BC127826 - Homo sapiens RGM domain family, member A, mRNA (cDNA clone IMAGE:40133362), partial cds.
DQ571114 - Homo sapiens piRNA piR-31226, complete sequence.
DQ573354 - Homo sapiens piRNA piR-41466, complete sequence.
JD123796 - Sequence 104820 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96B86 (Reactome details) participates in the following event(s):

R-HSA-374692 Neogenin binds repulsive guidance molecules (RGDs)
R-HSA-373752 Netrin-1 signaling
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: AK125204, B2RTW1, Q0JV97, Q8NC80, Q96B86, Q9H0E6, Q9NPM3, RGM, RGMA_HUMAN
UCSC ID: uc002bsr.2
RefSeq Accession: NM_001166288
Protein: Q96B86 (aka RGMA_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK125204.1
exon count: 5CDS single in 3' UTR: no RNA size: 3172
ORF size: 1026CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 1659.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.