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

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 corpus callosum development; glucose homeostasis; and sensory perception of smell. 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, Dec 2024]
Expression: Broad expression in cerebellum adult (RPKM 12.1), CNS E18 (RPKM 11.9) and 18 other tissues See more
Orthologs: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DMXL2 Is Required for Endocytosis and Recycling of Synaptic Vesicles in Auditory Hair Cells.
Title: DMXL2 Is Required for Endocytosis and Recycling of Synaptic Vesicles in Auditory Hair Cells.
Rabconnectin-3alpha/DMXL2 Is Locally Enriched at the Synaptic Ribbon of Rod Photoreceptor Synapses.
Title: Rabconnectin-3α/DMXL2 Is Locally Enriched at the Synaptic Ribbon of Rod Photoreceptor Synapses.
Co-immunoprecipitations from brain tissue is consistent with the formation of a protein complex between RB-3alpha and RB-3beta and both Cav2.2 and the related Cav2.1 calcium channel.
Title: Interactions of Rabconnectin-3 with Cav2 calcium channels.
Dmxl2 exerts its principal function in the testes.
Title: Dual role of DMXL2 in olfactory information transmission and the first wave of spermatogenesis.
Data provide evidence that DMXL2 plays an important role in the inner ear function.
Title: A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in humans and mice.
Title: Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.
The DMXL2 interactome, was studied.
Title: Identifying true protein complex constituents in interaction proteomics: the example of the DMXL2 protein complex.
an important role for Rabconnectin-3 and V-ATPase activity in the Notch signaling pathway in mammalian cells.
Title: Rabconnectin-3 is a functional regulator of mammalian Notch signaling.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within corpus callosum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_172771.2 → NP_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:2789 → 3046

WD40; WD40 repeat [General function prediction only]

pfam12234
Location:1172 → 1901

Rav1p_C; RAVE protein 1 C terminal

sd00039
Location:2828 → 2868

7WD40; WD40 repeat [structural motif]

cl02567
Location:2784 → 3036

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

54272442..54409150 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511085.4 → XP_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:2806 → 2846

7WD40; WD40 repeat [structural motif]

pfam12234
Location:1172 → 1901

Rav1p_C; RAVE protein 1 C terminal

cl29593
Location:2762 → 3014

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 ...
XM_006511083.4 → XP_006511146.2 dmX-like protein 2 isoform X1

Conserved Domains (3) summary

sd00039
Location:2827 → 2867

7WD40; WD40 repeat [structural motif]

pfam12234
Location:1172 → 1901

Rav1p_C; RAVE protein 1 C terminal

cl29593
Location:2783 → 3035

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 ...
XM_006511084.4 → XP_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:2807 → 2847

7WD40; WD40 repeat [structural motif]

pfam12234
Location:1172 → 1901

Rav1p_C; RAVE protein 1 C terminal

cl29593
Location:2763 → 3015

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 ...
XM_036154894.1 → XP_036010787.1 dmX-like protein 2 isoform X4

UniProtKB/TrEMBL

F6RYL8

Related

ENSMUSP00000119959.2, ENSMUST00000123709.8

Conserved Domains (3) summary

sd00039
Location:2345 → 2385

7WD40; WD40 repeat [structural motif]

pfam12234
Location:689 → 1418

Rav1p_C; RAVE protein 1 C terminal

cl29593
Location:2301 → 2553

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 ...