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Aliases for DMXL2 Gene

Aliases for DMXL2 Gene

  • Dmx Like 2 2 3 5
  • Rabconnectin-3 3 4
  • DmX-Like Protein 2 3
  • Rabconnectin 3 2
  • KIAA0856 4
  • DFNA71 3
  • 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 Deafness, Autosomal Dominant 71. Gene Ontology (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).

Additional gene information for DMXL2 Gene

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

Genomics for DMXL2 Gene

GeneHancer (GH) Regulatory Elements for DMXL2 Gene

Promoters and enhancers for DMXL2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J051620 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 701.1 +0.4 381 4.4 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF766 E2F8 DMXL2 SCG3 LYSMD2 TRPM7 ENSG00000260618 MAPK6 AP4E1 TMOD2 TMOD3 ENSG00000259678
GH15J051728 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.1 -111.0 -111043 9.9 PKNOX1 SIN3A IRF4 YY1 ZNF766 ZNF207 ZNF143 JUNB REST ZNF592 LYSMD2 DMXL2 SCG3 TMOD3 MAPK6 TMOD2 ENSG00000259296
GH15J051619 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 36.8 +3.2 3215 0.9 ZNF664 ZFHX2 EGR1 ZNF692 CEBPB MLLT1 KDM1A RUNX3 EGR2 DMXL2 MAPK6 LYSMD2 TMOD3 GC15M057885
GH15J051585 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 29.9 +36.6 36632 1.2 GATA3 ZNF316 MAFF ARID3A MAFG EMSY MAFK DMXL2 MAPK6 LYSMD2 TMOD3 GC15M057885
GH15J051576 Enhancer 1.3 Ensembl ENCODE dbSUPER 23.4 +45.5 45527 1.8 HDAC1 PKNOX1 CLOCK NFRKB NEUROD1 NCOA2 CHAMP1 TCF12 ZNF766 FOS DMXL2 GC15M057885
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMXL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DMXL2 gene promoter:
  • FOXC1
  • RelA
  • NF-kappaB1
  • NF-kappaB
  • Nkx5-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Brachyury
  • STAT1

Genomic Locations for DMXL2 Gene

Genomic Locations for DMXL2 Gene
175,123 bases
Minus strand
175,123 bases
Minus strand

Genomic View for DMXL2 Gene

Genes around DMXL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMXL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DMXL2 Gene

Suggested Antigen Peptide Sequences for DMXL2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for DMXL2 Gene

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).

Phenotypes From GWAS Catalog for DMXL2 Gene

Gene Ontology (GO) - Molecular Function for DMXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Human Phenotype Ontology for DMXL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DMXL2 Gene

MGI Knock Outs for DMXL2:
  • Dmxl2 Dmxl2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DMXL2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMXL2

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMXL2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DMXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0008021 synaptic vesicle IDA 11809763
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0030672 synaptic vesicle membrane IEA --
genes like me logo Genes that share ontologies with DMXL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMXL2 Gene

Pathways & Interactions for DMXL2 Gene

SuperPathways for DMXL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007035 vacuolar acidification IBA --
GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly IBA --
genes like me logo Genes that share ontologies with DMXL2: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMXL2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DMXL2 Gene

Protein tissue co-expression partners for DMXL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DMXL2 Gene:


SOURCE GeneReport for Unigene cluster for DMXL2 Gene:


Evidence on tissue expression from TISSUES for DMXL2 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DMXL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • neck
  • outer ear
  • pituitary gland
  • thyroid
  • heart
  • lung
  • intestine
  • large intestine
  • small intestine
  • uterus
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with DMXL2: view

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
(Pan troglodytes)
Mammalia DMXL2 34 33
  • 99.54 (n)
(Canis familiaris)
Mammalia DMXL2 34 33
  • 92.94 (n)
(Bos Taurus)
Mammalia DMXL2 34 33
  • 91.87 (n)
(Mus musculus)
Mammalia Dmxl2 16 34 33
  • 88.47 (n)
(Rattus norvegicus)
Mammalia Dmxl2 33
  • 88.03 (n)
(Monodelphis domestica)
Mammalia DMXL2 34
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia DMXL2 34
  • 77 (a)
(Gallus gallus)
Aves DMXL2 34 33
  • 79.46 (n)
(Anolis carolinensis)
Reptilia DMXL2 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dmxl2 33
  • 73.33 (n)
(Danio rerio)
Actinopterygii dmxl2 34
  • 76 (a)
DMXL2 (1 of 2) 34
  • 67 (a)
LOC100536133 33
  • 64.85 (n)
Dr.12467 33
fruit fly
(Drosophila melanogaster)
Insecta Rbcn-3A 34 33
  • 48.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010490 33
  • 27.34 (n)
(Caenorhabditis elegans)
Secernentea rbc-1 34 33
  • 47.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAV1 34
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
Species where no ortholog for DMXL2 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for DMXL2: view image

Paralogs for DMXL2 Gene

Paralogs for DMXL2 Gene

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

  • H0YM41_HUMAN
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 Variation AA Info Type
rs606231461 pathogenic, Polyendocrine-polyneuropathy syndrome 51,481,265(-) ACTTCCATTGCCATCACT/ACT coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion, non_coding_transcript_variant
rs754786373 pathogenic, DEAFNESS, AUTOSOMAL DOMINANT 71 51,471,365(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_079484 Deafness, autosomal dominant, 71 (DFNA71) [MIM:617605] p.Arg2417His
rs16953073 likely-benign, not provided 51,507,191(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000010664 -- 51,495,380(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4526n54 CNV gain 21841781
esv2671192 CNV deletion 23128226
esv2749689 CNV deletion 23290073
esv2760031 CNV gain 17122850
esv3306004 CNV mobile element insertion 20981092
esv3308113 CNV mobile element insertion 20981092
esv3399342 CNV insertion 20981092
esv3403053 CNV insertion 20981092
esv34532 CNV gain 17911159
esv3552441 CNV deletion 23714750
esv3552443 CNV deletion 23714750
esv3636461 CNV gain 21293372
esv3636467 CNV loss 21293372
esv3636471 CNV loss 21293372
esv3636472 CNV loss 21293372
esv3699 CNV loss 18987735
nsv1113711 CNV deletion 24896259
nsv1122967 CNV deletion 24896259
nsv1138368 CNV deletion 24896259
nsv1535 CNV insertion 18451855
nsv457138 CNV loss 19166990
nsv457139 CNV loss 19166990
nsv471243 CNV gain 18288195
nsv569405 CNV loss 21841781
nsv569406 CNV loss 21841781
nsv569407 CNV loss 21841781
nsv569408 CNV loss 21841781
nsv94648 CNV deletion 16902084
nsv952625 CNV duplication 24416366

Variation tolerance for DMXL2 Gene

Residual Variation Intolerance Score: 0.488% 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)

Additional Variant Information for DMXL2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for DMXL2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DMXL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polyendocrine-polyneuropathy syndrome
  • pepns
deafness, autosomal dominant 71
  • dfna71
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
  • polyneuropathies
- elite association - COSMIC cancer census association via MalaCards
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.
  • Deafness, autosomal dominant, 71 (DFNA71) [MIM:617605]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA71 is characterized by bilateral mild to moderate hearing loss before age 20 years, which gradually progresses to severe to profound hearing loss. {ECO:0000269 PubMed:27657680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DMXL2

Genetic Association Database
Human Genome Epidemiology 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. A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. (PMID: 27657680) Chen DY … Wu H (Genetics in medicine : official journal of the American College of Medical Genetics 2017) 2 3 4 58
  2. 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 (The Journal of biological chemistry 2002) 3 4 22 58
  3. 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 biology 2014) 3 4 58
  4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 44 58
  5. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PMID: 17975119) Shiffman D … Psaty BM (Arteriosclerosis, thrombosis, and vascular biology 2008) 3 44 58

Products for DMXL2 Gene

Sources for DMXL2 Gene

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