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    Dmxl2 Dmx-like 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 315676, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dmxl2provided by RGD
    Official Full Name
    Dmx-like 2provided by RGD
    Primary source
    RGD:1586163
    See related
    EnsemblRapid:ENSRNOG00000009170 AllianceGenome:RGD:1586163
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Dmxl2-ps1
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be involved in vacuolar acidification. Predicted to act upstream of or within several processes, including corpus callosum development; glucose homeostasis; and spermatogenesis. Is active in synaptic vesicle. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 71 and developmental and epileptic encephalopathy 81. Orthologous to human DMXL2 (Dmx like 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Brain (RPKM 328.3), Kidney (RPKM 204.3) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dmxl2 in Genome Data Viewer
    Location:
    8q24
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (63637314..63803911, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (54741164..54884948, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (58932575..59077788, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene large ribosomal subunit protein eL43-like Neighboring gene small nucleolar RNA SNORD113/SNORD114 family Neighboring gene gliomedin Neighboring gene polypyrimidine tract binding protein 1, pseudogene 2 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase-like Neighboring gene SH2 domain containing 7 Neighboring gene calcium and integrin binding family member 2 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. Tata B, et al. PLoS Biol, 2014 Sep. PMID 25248098, Free PMC Article
    2. Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family. Nagano F, et al. J Biol Chem, 2002 Mar 22. PMID 11809763
    3. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Böhm D, et al. Oncol Rep, 2012 Aug. PMID 22664934, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within chemical synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within corpus callosum development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within glucose homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of sensory perception of smell ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within sensory perception of smell ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spermatogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vacuolar acidification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RAVE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in neuronal dense core vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    dmX-like protein 2
    Names
    Dmx-like 2, pseudogene 1

    NCBI Reference Sequences (RefSeq)

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    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_001427384.1 → NP_001414313.1  dmX-like protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      F1M3W5
      Related
      ENSRNOP00000059323.3, ENSRNOT00000066197.6

    2. NM_001427385.1 → NP_001414314.1  dmX-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A0A8I5ZMW1
      Related
      ENSRNOP00000079423.1, ENSRNOT00000114414.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      63637314..63803911 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063265469.1 → XP_063121539.1  dmX-like protein 2 isoform X3

      Related
      ENSRNOP00000103062.1, ENSRNOT00000162541.1

    2. XM_008766360.4 → XP_008764582.1  dmX-like protein 2 isoform X2

      UniProtKB/TrEMBL
      A6J4L2
      Conserved Domains (4) summary
      COG2319
      Location:2769 → 3026
      WD40; WD40 repeat [General function prediction only]
      pfam12234
      Location:1173 → 1903
      Rav1p_C; RAVE protein 1 C terminal
      sd00039
      Location:2808 → 2848
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2764 → 3016
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_008766358.4 → XP_008764580.1  dmX-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A6J4L2
      Conserved Domains (4) summary
      COG2319
      Location:2790 → 3047
      WD40; WD40 repeat [General function prediction only]
      pfam12234
      Location:1173 → 1903
      Rav1p_C; RAVE protein 1 C terminal
      sd00039
      Location:2829 → 2869
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:2785 → 3037
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    Nucleotide Protein Strain
    Heading Accession and Version

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