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    DMXL2 Dmx like 2 [ Homo sapiens (human) ]

    Gene ID: 23312, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DMXL2 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (51447791..51622771, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49255566..49430224, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    dmX-like protein 2
    Names
    rabconnectin-3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001174116.3NP_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:27782984
      WD40; WD40 repeat [General function prediction only]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
      sd00039
      Location:28112851
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:27673019
      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_001174117.3NP_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:21352347
      WD40; WD40 repeat [General function prediction only]
      pfam12234
      Location:9231266
      Rav1p_C; RAVE protein 1 C terminal
      sd00039
      Location:21742214
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:21302382
      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_001378457.1NP_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:28322872
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:27883040
      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_001378458.1NP_001365387.1  dmX-like protein 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (3) summary
      sd00039
      Location:28312871
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:27873039
      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_001378459.1NP_001365388.1  dmX-like protein 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (3) summary
      sd00039
      Location:27362776
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:26922944
      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_001378460.1NP_001365389.1  dmX-like protein 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (3) summary
      sd00039
      Location:21372177
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:9091229
      Rav1p_C; RAVE protein 1 C terminal
      cl29593
      Location:20932345
      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_001378461.1NP_001365390.1  dmX-like protein 2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
    8. NM_001378462.1NP_001365391.1  dmX-like protein 2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
    9. NM_001378463.1NP_001365392.1  dmX-like protein 2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
    10. NM_001378464.1NP_001365393.1  dmX-like protein 2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC020892, AC066613
      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      pfam12234
      Location:10911822
      Rav1p_C; RAVE protein 1 C terminal
    11. NM_015263.5NP_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:27772983
      WD40; WD40 repeat [General function prediction only]
      pfam12234
      Location:11711902
      Rav1p_C; RAVE protein 1 C terminal
      sd00039
      Location:28102850
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:27663018
      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_2024_08

    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_047432317.1XP_047288273.1  dmX-like protein 2 isoform X3

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

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

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

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

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

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

    8. XM_047432321.1XP_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_054377618.1XP_054233593.1  dmX-like protein 2 isoform X4

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

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

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

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

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

    RNA

    1. XR_008488931.1 RNA Sequence