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DMXL2 Dmx like 2 [ Homo sapiens (human) ]

Gene ID: 23312, updated on 5-Mar-2024

Summary

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Official Symbol
DMXL2provided by HGNC
Official Full Name
Dmx like 2provided by HGNC
Primary source
HGNC:HGNC:2938
See related
Ensembl:ENSG00000104093 MIM:612186; AllianceGenome:HGNC:2938
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RC3; DEE81; PEPNS; DFNA71; EIEE81
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 8.0), bone marrow (RPKM 7.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
15q21.2
Exon count:
47
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (51447791..51622771, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49255566..49430224, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51739988..51914968, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 19 subfamily A member 1 Neighboring gene uncharacterized LOC112268146 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51621311-51621511 Neighboring gene CYP19A1 promoter I.1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51678296-51678796 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:51682661-51683516 Neighboring gene gliomedin Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:51741640-51742839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51861014-51861520 Neighboring gene Sharpr-MPRA regulatory region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6432 Neighboring gene uncharacterized LOC105370816 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1149 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1151 Neighboring gene Sharpr-MPRA regulatory region 12802 Neighboring gene secretogranin III

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. Wonkam-Tingang E, et al. Exp Biol Med (Maywood), 2021 Jul. PMID 33715530, Free PMC Article
  2. Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Esposito A, et al. Brain, 2019 Dec 1. PMID 31688942
  3. Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. Costain G, et al. J Neurodev Disord, 2019 Feb 7. PMID 30732576, Free PMC Article
  4. DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation. Faronato M, et al. Oncotarget, 2015 Sep 8. PMID 26093085, Free PMC Article
  5. A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. Chen DY, et al. Genet Med, 2017 May. PMID 27657680

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
    Title: A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
  2. Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder.
    Title: Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
  3. Impaired lysosomal function and autophagy caused by biallelic DMXL2 mutations affect neuronal development and synapse formation and result in Ohtahara syndrome with profound developmental impairment and reduced life expectancy.
    Title: Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
  4. Data indicated that the p.Arg2417His variant in DMXL2 is associated with dominant, nonsyndromic hearing loss and suggested an important role of DMXL2 in inner ear function.
    Title: A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
  5. authors demonstrate that DMXL2 is a transmembrane protein with a potential extra-cellular domain. These findings identify DMXL2 as a novel, functional biomarker for ERalpha positive breast cancer.
    Title: DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation.
  6. 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.
  7. 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.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 81
MedGen: C5231450 OMIM: 618663 GeneReviews: Not available
Compare labs
Hearing loss, autosomal dominant 71
MedGen: C4539881 OMIM: 617605 GeneReviews: Not available
Compare labs
Polyendocrine-polyneuropathy syndrome
MedGen: C4015261 OMIM: 616113 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-04-04)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-04-04)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26672, KIAA0856

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
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
  
located_in extracellular space HDA PubMed 
located_in neuronal dense core vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
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.

Genomic

  1. NG_017155.1 RefSeqGene

    Range
    5000..179980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174116.3 → NP_001167587.1  dmX-like protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC020892, AC066613
    Consensus CDS
    CCDS53946.1
    UniProtKB/Swiss-Prot
    Q8TDJ6
    Related
    ENSP00000441858.2, ENST00000543779.6
    Conserved Domains (4) summary
    COG2319
    Location:2778 → 2984
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2811 → 2851
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2767 → 3019
    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. NM_001174117.3 → NP_001167588.1  dmX-like protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001167588.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two coding exons compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C- termini compared to isoform 1.
    Source sequence(s)
    AC020892, AC066613
    Consensus CDS
    CCDS53945.1
    UniProtKB/Swiss-Prot
    Q8TDJ6
    Related
    ENSP00000400855.3, ENST00000449909.7
    Conserved Domains (4) summary
    COG2319
    Location:2135 → 2347
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:923 → 1266
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2174 → 2214
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2130 → 2382
    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. NM_001378457.1 → NP_001365386.1  dmX-like protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AC020892, AC066613
    Consensus CDS
    CCDS91998.1
    UniProtKB/TrEMBL
    H0YLM8
    Related
    ENSP00000453267.2, ENST00000560891.6
    Conserved Domains (3) summary
    sd00039
    Location:2832 → 2872
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2788 → 3040
    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. NM_001378458.1 → NP_001365387.1  dmX-like protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (3) summary
    sd00039
    Location:2831 → 2871
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2787 → 3039
    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 ...

  5. NM_001378459.1 → NP_001365388.1  dmX-like protein 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (3) summary
    sd00039
    Location:2736 → 2776
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2692 → 2944
    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 ...

  6. NM_001378460.1 → NP_001365389.1  dmX-like protein 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (3) summary
    sd00039
    Location:2137 → 2177
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:909 → 1229
    Rav1p_C; RAVE protein 1 C terminal
    cl29593
    Location:2093 → 2345
    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 ...

  7. NM_001378461.1 → NP_001365390.1  dmX-like protein 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (2) summary
    sd00039
    Location:61 → 102
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal

  8. NM_001378462.1 → NP_001365391.1  dmX-like protein 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (2) summary
    sd00039
    Location:61 → 102
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal

  9. NM_001378463.1 → NP_001365392.1  dmX-like protein 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (2) summary
    sd00039
    Location:61 → 102
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal

  10. NM_001378464.1 → NP_001365393.1  dmX-like protein 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
    Conserved Domains (2) summary
    sd00039
    Location:61 → 102
    7WD40; WD40 repeat [structural motif]
    pfam12234
    Location:1091 → 1822
    Rav1p_C; RAVE protein 1 C terminal

  11. NM_015263.5 → NP_056078.2  dmX-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_056078.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC020892, AC066613
    Consensus CDS
    CCDS10141.1
    UniProtKB/Swiss-Prot
    B2RTR3, B7ZMH3, F5GWF1, O94938, Q8TDJ6
    Related
    ENSP00000251076.5, ENST00000251076.9
    Conserved Domains (4) summary
    COG2319
    Location:2777 → 2983
    WD40; WD40 repeat [General function prediction only]
    pfam12234
    Location:1171 → 1902
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:2810 → 2850
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:2766 → 3018
    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 ...

RNA

  1. NR_165648.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613

  2. NR_165649.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    51447791..51622771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432317.1 → XP_047288273.1  dmX-like protein 2 isoform X3

  2. XM_047432316.1 → XP_047288272.1  dmX-like protein 2 isoform X3

  3. XM_047432318.1 → XP_047288274.1  dmX-like protein 2 isoform X4

  4. XM_047432315.1 → XP_047288271.1  dmX-like protein 2 isoform X2

  5. XM_047432314.1 → XP_047288270.1  dmX-like protein 2 isoform X1

  6. XM_047432320.1 → XP_047288276.1  dmX-like protein 2 isoform X6

  7. XM_047432319.1 → XP_047288275.1  dmX-like protein 2 isoform X5

  8. XM_047432321.1 → XP_047288277.1  dmX-like protein 2 isoform X7

RNA

  1. XR_007064435.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    49255566..49430224 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377618.1 → XP_054233593.1  dmX-like protein 2 isoform X4

  2. XM_054377617.1 → XP_054233592.1  dmX-like protein 2 isoform X2

  3. XM_054377616.1 → XP_054233591.1  dmX-like protein 2 isoform X1

  4. XM_054377620.1 → XP_054233595.1  dmX-like protein 2 isoform X6

  5. XM_054377619.1 → XP_054233594.1  dmX-like protein 2 isoform X5

  6. XM_054377621.1 → XP_054233596.1  dmX-like protein 2 isoform X7

RNA

  1. XR_008488931.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TDJ6.2 GenPept UniProtKB/Swiss-Prot:Q8TDJ6

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