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Aliases for DMXL2 Gene

Aliases for DMXL2 Gene

  • Dmx-Like 2 2 3
  • Rabconnectin-3 3 4
  • Rabconnectin 3 2
  • KIAA0856 4
  • PEPNS 3
  • RC3 3

External Ids for DMXL2 Gene

Previous GeneCards Identifiers for DMXL2 Gene

  • GC00U990082
  • GC15M049529
  • GC15M051739
  • GC15M028569

Summaries for DMXL2 Gene

Entrez Gene Summary for DMXL2 Gene

  • This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for DMXL2 Gene

DMXL2 (Dmx-Like 2) is a Protein Coding gene. Diseases associated with DMXL2 include polyendocrine-polyneuropathy syndrome and hypertrophy of breast. GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is DMXL1.

UniProtKB/Swiss-Prot for DMXL2 Gene

  • May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMXL2 Gene

Genomics for DMXL2 Gene

Regulatory Elements for DMXL2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DMXL2 Gene

51,447,711 bp from pter
51,622,833 bp from pter
175,123 bases
Minus strand

Genomic View for DMXL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMXL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMXL2 Gene

Proteins for DMXL2 Gene

  • Protein details for DMXL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DmX-like protein 2
    Protein Accession:
    Secondary Accessions:
    • B2RTR3
    • B7ZMH3
    • F5GWF1
    • O94938

    Protein attributes for DMXL2 Gene

    3036 amino acids
    Molecular mass:
    339641 Da
    Quaternary structure:
    • Interacts with MADD and RAB3GAP.

    Alternative splice isoforms for DMXL2 Gene


neXtProt entry for DMXL2 Gene

Proteomics data for DMXL2 Gene at MOPED

Post-translational modifications for DMXL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMXL2 Gene

Domains & Families for DMXL2 Gene

Gene Families for DMXL2 Gene

Protein Domains for DMXL2 Gene

Suggested Antigen Peptide Sequences for DMXL2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 16 WD repeats.
  • Contains 16 WD repeats.
genes like me logo Genes that share domains with DMXL2: view

Function for DMXL2 Gene

Molecular function for DMXL2 Gene

UniProtKB/Swiss-Prot Function:
May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).

Gene Ontology (GO) - Molecular Function for DMXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0017137 Rab GTPase binding IDA 11809763
genes like me logo Genes that share ontologies with DMXL2: view
genes like me logo Genes that share phenotypes with DMXL2: view

Animal Model Products

miRNA for DMXL2 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMXL2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DMXL2 Gene

Localization for DMXL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMXL2 Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein. Note=The external layer of the inferior boundary for the hypothalamus part of the human brain (the so called median eminence (ME)) displayed a punctate pattern of expression; expression also observed in the cell bodies lining the third ventricle, in the long processes extending from these cell bodies toward the external layer of the ME, in small clear vesicles, and in large dense core vesicles. {ECO:0000250 UniProtKB:Q8BPN8}.

Subcellular locations from

Jensen Localization Image for DMXL2 Gene COMPARTMENTS Subcellular localization image for DMXL2 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DMXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0008021 synaptic vesicle IDA 11809763
GO:0030054 cell junction IEA --
GO:0030672 synaptic vesicle membrane IEA --
genes like me logo Genes that share ontologies with DMXL2: view

Pathways & Interactions for DMXL2 Gene

SuperPathways for DMXL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMXL2 Gene


No data available for Pathways by source and SIGNOR curated interactions for DMXL2 Gene

Drugs & Compounds for DMXL2 Gene

No Compound Related Data Available

Transcripts for DMXL2 Gene

Unigene Clusters for DMXL2 Gene

Dmx-like 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMXL2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMXL2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b · 44c
SP1: - -
SP2: - -
SP3: -

Relevant External Links for DMXL2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DMXL2 Gene

mRNA expression in normal human tissues for DMXL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DMXL2 Gene

This gene is overexpressed in Serum (35.4), Frontal cortex (14.9), and Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DMXL2 Gene

SOURCE GeneReport for Unigene cluster for DMXL2 Gene Hs.511386

genes like me logo Genes that share expression patterns with DMXL2: view

Protein tissue co-expression partners for DMXL2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DMXL2 Gene

Orthologs for DMXL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DMXL2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DMXL2 35
  • 91.87 (n)
  • 93.6 (a)
DMXL2 36
  • 91 (a)
(Canis familiaris)
Mammalia DMXL2 35
  • 92.94 (n)
  • 95.58 (a)
DMXL2 36
  • 95 (a)
(Mus musculus)
Mammalia Dmxl2 35
  • 88.47 (n)
  • 93.1 (a)
Dmxl2 16
Dmxl2 36
  • 92 (a)
(Pan troglodytes)
Mammalia DMXL2 35
  • 99.54 (n)
  • 99.6 (a)
DMXL2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Dmxl2 35
  • 88.03 (n)
  • 93.17 (a)
(Monodelphis domestica)
Mammalia DMXL2 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia DMXL2 36
  • 77 (a)
(Gallus gallus)
Aves DMXL2 35
  • 79.46 (n)
  • 85.16 (a)
DMXL2 36
  • 83 (a)
(Anolis carolinensis)
Reptilia DMXL2 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dmxl2 35
  • 73.33 (n)
  • 77.83 (a)
(Danio rerio)
Actinopterygii Dr.12467 35
LOC100536133 35
  • 64.85 (n)
  • 69.97 (a)
dmxl2 36
  • 76 (a)
DMXL2 (1 of 2) 36
  • 67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010490 35
  • 27.34 (n)
  • 7.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rbcn-3A 35
  • 48.55 (n)
  • 44.69 (a)
Rbcn-3A 36
  • 34 (a)
(Caenorhabditis elegans)
Secernentea rbc-1 35
  • 47.14 (n)
  • 36.27 (a)
rbc-1 36
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAV1 36
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
Species with no ortholog for DMXL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMXL2 Gene

Gene Tree for DMXL2 (if available)
Gene Tree for DMXL2 (if available)

Paralogs for DMXL2 Gene

Paralogs for DMXL2 Gene

(1) SIMAP similar genes for DMXL2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with DMXL2: view

Variants for DMXL2 Gene

Sequence variations from dbSNP and Humsavar for DMXL2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs750162 -- 51,614,956(-) atttt(G/T)ttccc intron-variant
rs750163 -- 51,614,790(-) ttttt(C/T)ccact intron-variant
rs882385 -- 51,590,172(-) AGCTT(A/G)CTGGC intron-variant
rs882386 -- 51,590,076(-) GTGGT(C/T)TGCCA intron-variant
rs930919 -- 51,460,154(-) TTTCC(A/G)TGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMXL2 Gene

Variant ID Type Subtype PubMed ID
esv34532 CNV Gain 17911159
dgv747e1 CNV Complex 17122850
nsv471243 CNV Gain 18288195
nsv904217 CNV Gain 21882294
nsv904218 CNV Loss 21882294
nsv457138 CNV Loss 19166990
nsv1535 CNV Insertion 18451855
esv272387 CNV Insertion 20981092
nsv904219 CNV Loss 21882294
nsv457139 CNV Loss 19166990
esv270281 CNV Insertion 20981092
esv2749689 CNV Deletion 23290073
esv3699 CNV Deletion 18987735
nsv94648 CNV Loss 16902084
esv2671192 CNV Deletion 23128226

Variation tolerance for DMXL2 Gene

Residual Variation Intolerance Score: .49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.51; 88.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMXL2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMXL2 Gene

Disorders for DMXL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DMXL2 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polyendocrine-polyneuropathy syndrome
  • pepns
hypertrophy of breast
  • large breast
- elite association
Search DMXL2 in MalaCards View complete list of genes associated with diseases


  • Polyendocrine-polyneuropathy syndrome (PEPNS) [MIM:616113]: A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. {ECO:0000269 PubMed:25248098}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DMXL2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DMXL2: view

No data available for Genatlas for DMXL2 Gene

Publications for DMXL2 Gene

  1. Purification and properties of rabconnectin-3. (PMID: 16473606) Sakisaka T. … Takai Y. (Meth. Enzymol. 2005) 23 67
  2. A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)- dependent exocytosis of neurotransmitter. (PMID: 12786944) Kawabe H. … Takai Y. (Genes Cells 2003) 23 67
  3. Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family. (PMID: 11809763) Nagano F. … Takai Y. (J. Biol. Chem. 2002) 23 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. (PMID: 25248098) Tata B. … de Roux N. (PLoS Biol. 2014) 67

Products for DMXL2 Gene

Sources for DMXL2 Gene

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