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Dmxl2 Dmx-like 2 [ Mus musculus (house mouse) ]

Gene ID: 235380, updated on 5-Mar-2024

Summary

Official Symbol
Dmxl2provided by MGI
Official Full Name
Dmx-like 2provided by MGI
Primary source
MGI:MGI:2444630
See related
Ensembl:ENSMUSG00000041268 AllianceGenome:MGI:2444630
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA0856; 6330586A12; 6430411K14Rik; E130119P06Rik
Summary
Predicted to enable small GTPase binding activity. Acts upstream of or within several processes, including glucose homeostasis; sensory perception of smell; and spermatogenesis. Is active in neuronal dense core vesicle. Is expressed in central nervous system; ganglia; and olfactory epithelium. 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, Apr 2022]
Expression
Broad expression in cerebellum adult (RPKM 12.1), CNS E18 (RPKM 11.9) and 18 other tissues See more
Orthologs
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Genomic context

See Dmxl2 in Genome Data Viewer
Location:
9 A5.3; 9 29.58 cM
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (54272442..54409150, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (54365158..54501866, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene putative 60S ribosomal protein L37a Neighboring gene gliomedin, opposite strand Neighboring gene gliomedin Neighboring gene STARR-seq mESC enhancer starr_24167 Neighboring gene STARR-seq mESC enhancer starr_24168 Neighboring gene STARR-seq mESC enhancer starr_24169 Neighboring gene SH2 domain containing 7 Neighboring gene calcium and integrin binding family member 2 Neighboring gene STARR-positive B cell enhancer ABC_E888 Neighboring gene STARR-seq mESC enhancer starr_24171 Neighboring gene isocitrate dehydrogenase 3 (NAD+) alpha

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of RAVE complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuronal dense core vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
dmX-like protein 2
Names
rabconnectin-3

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_172771.2NP_766359.2  dmX-like protein 2

    Status: VALIDATED

    Source sequence(s)
    AC161589, CT010507
    Consensus CDS
    CCDS52799.1
    UniProtKB/TrEMBL
    B0V2P5
    Related
    ENSMUSP00000113705.2, ENSMUST00000118163.8
    Conserved Domains (4) summary
    COG2319
    Location:27893046
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:11721901
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:28282868
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:27843036
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    54272442..54409150 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511085.4XP_006511148.2  dmX-like protein 2 isoform X3

    See identical proteins and their annotated locations for XP_006511148.2

    UniProtKB/Swiss-Prot
    B0V2P4, Q3TNY5, Q69ZX5, Q8BPN8, Q8CCU3
    Related
    ENSMUSP00000113693.2, ENSMUST00000118600.8
    Conserved Domains (3) summary
    sd00039
    Location:28062846
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11721901
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:27623014
    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 ...
  2. XM_006511083.4XP_006511146.2  dmX-like protein 2 isoform X1

    Conserved Domains (3) summary
    sd00039
    Location:28272867
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11721901
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:27833035
    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_006511084.4XP_006511147.2  dmX-like protein 2 isoform X2

    See identical proteins and their annotated locations for XP_006511147.2

    Conserved Domains (3) summary
    sd00039
    Location:28072847
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:11721901
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:27633015
    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 ...
  4. XM_036154894.1XP_036010787.1  dmX-like protein 2 isoform X4

    UniProtKB/TrEMBL
    F6RYL8
    Related
    ENSMUSP00000119959.2, ENSMUST00000123709.8
    Conserved Domains (3) summary
    sd00039
    Location:23452385
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:6891418
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:23012553
    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 ...