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DMXL2 Dmx like 2 [ Homo sapiens (human) ]

Gene ID: 23312, updated on 27-Jun-2020

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
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; 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

Genomic context

See DMXL2 in Genome Data Viewer
Location:
15q21.2
Exon count:
47
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (51447788..51622833, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51739921..51915030, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 19 subfamily A member 1 Neighboring gene CYP19A1 promoter I.1 Neighboring gene gliomedin Neighboring gene uncharacterized LOC105370816 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1149 Neighboring gene CRISPRi-validated cis-regulatory element chr15.1151

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
DEAFNESS, AUTOSOMAL DOMINANT 71
MedGen: C4539881 OMIM: 617605 GeneReviews: Not available
Compare labs
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81
MedGen: C5231450 OMIM: 618663 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

Homology

Clone Names

  • FLJ26672, KIAA0856

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
RAVE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
neuronal dense core vesicle IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
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)

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..180049
    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
  4. NM_001378458.1NP_001365387.1  dmX-like protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  5. NM_001378459.1NP_001365388.1  dmX-like protein 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  6. NM_001378460.1NP_001365389.1  dmX-like protein 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  7. NM_001378461.1NP_001365390.1  dmX-like protein 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  8. NM_001378462.1NP_001365391.1  dmX-like protein 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  9. NM_001378463.1NP_001365392.1  dmX-like protein 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  10. NM_001378464.1NP_001365393.1  dmX-like protein 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC020892, AC066613
  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
    Q8TDJ6
    UniProtKB/TrEMBL
    A0A024R5V2
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    51447788..51622833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022034.1XP_016877523.1  dmX-like protein 2 isoform X3

  2. XM_011521402.3XP_011519704.1  dmX-like protein 2 isoform X4

    Conserved Domains (2) summary
    pfam12234
    Location:11711576
    Rav1p_C; RAVE protein 1 C terminal
    sd00039
    Location:61102
    7WD40; WD40 repeat [structural motif]

RNA

  1. XR_001751176.1 RNA Sequence

  2. XR_001751175.1 RNA Sequence

  3. XR_001751177.1 RNA Sequence

  4. XR_001751174.1 RNA Sequence

  5. XR_001751173.1 RNA Sequence

  6. XR_931781.2 RNA Sequence

  7. XR_931780.2 RNA Sequence

  8. XR_931779.2 RNA Sequence

  9. XR_931782.2 RNA Sequence

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