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    DISP3 dispatched RND transporter family member 3 [ Homo sapiens (human) ]

    Gene ID: 57540, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DISP3provided by HGNC
    Official Full Name
    dispatched RND transporter family member 3provided by HGNC
    Primary source
    HGNC:HGNC:29251
    See related
    Ensembl:ENSG00000204624 MIM:611251; AllianceGenome:HGNC:29251
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTCHD2
    Summary
    Involved in negative regulation of neuron differentiation; positive regulation of lipid metabolic process; and positive regulation of neural precursor cell proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 1.6), testis (RPKM 1.4) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See DISP3 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11479155..11537551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11022097..11081879)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11539212..11597608)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11455587-11456086 Neighboring gene MPRA-validated peak75 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11476310-11476994 Neighboring gene MT-CYB pseudogene 45 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11539763-11540364 Neighboring gene uncharacterized LOC124903842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11561504-11562071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11575295-11575922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11619527-11620028 Neighboring gene Sharpr-MPRA regulatory region 3841 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11640244-11640440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11660896-11661396 Neighboring gene long intergenic non-protein coding RNA 1647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11709789-11710497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11710498-11711205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 265 Neighboring gene F-box protein 2 Neighboring gene F-box protein 44

    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 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. Modulated DISP3/PTCHD2 expression influences neural stem cell fate decisions. Konířová J, et al. Sci Rep, 2017 Jan 30. PMID 28134287, Free PMC Article
    2. Novel gene identified in an exome-wide association study of tanning dependence. Cartmel B, et al. Exp Dermatol, 2014 Oct. PMID 25041255, Free PMC Article
    3. Identification and characterization of DISP3 gene in silico. Katoh Y, et al. Int J Oncol, 2005 Feb. PMID 15645143
    4. DISP3 promotes proliferation and delays differentiation of neural progenitor cells. Zíková M, et al. FEBS Lett, 2014 Nov 3. PMID 25281927
    5. DISP3, a sterol-sensing domain-containing protein that links thyroid hormone action and cholesterol metabolism. Zikova M, et al. Mol Endocrinol, 2009 Apr. PMID 19179482, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • KIAA1337

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of neural precursor cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of lipid transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in smoothened signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein dispatched homolog 3
    Names
    dispatched 3
    dispatched homolog 3
    patched domain containing 2
    patched domain-containing protein 2

    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.

    mRNA and Protein(s)

    1. NM_020780.2 → NP_065831.1  protein dispatched homolog 3

      See identical proteins and their annotated locations for NP_065831.1

      Status: VALIDATED

      Source sequence(s)
      AB037758, AL117236, AL590989, BU733859
      Consensus CDS
      CCDS41247.1
      UniProtKB/Swiss-Prot
      Q5VTU9, Q9P2K9, Q9UJD6
      UniProtKB/TrEMBL
      F1T0I3
      Related
      ENSP00000294484.6, ENST00000294484.7
      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      11479155..11537551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426135.1 → XP_047282091.1  protein dispatched homolog 3 isoform X2

    2. XM_011541830.3 → XP_011540132.1  protein dispatched homolog 3 isoform X4

      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    3. XM_011541831.3 → XP_011540133.1  protein dispatched homolog 3 isoform X5

      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    4. XM_011541832.2 → XP_011540134.1  protein dispatched homolog 3 isoform X6

      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    5. XM_011541833.2 → XP_011540135.1  protein dispatched homolog 3 isoform X7

      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    6. XM_047426138.1 → XP_047282094.1  protein dispatched homolog 3 isoform X8

    7. XM_011541835.2 → XP_011540137.1  protein dispatched homolog 3 isoform X9

      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    8. XM_011541828.4 → XP_011540130.1  protein dispatched homolog 3 isoform X1

      See identical proteins and their annotated locations for XP_011540130.1

      UniProtKB/Swiss-Prot
      Q5VTU9, Q9P2K9, Q9UJD6
      UniProtKB/TrEMBL
      F1T0I3
      Conserved Domains (3) summary
      pfam12235
      Location:148 → 255
      FXMRP1_C_core; Fragile X-related 1 protein core C terminal
      cl01888
      Location:102 → 170
      DUF883; Bacterial protein of unknown function (DUF883)
      cl21543
      Location:485 → 615
      MMPL; MMPL family

    9. XM_011541829.2 → XP_011540131.1  protein dispatched homolog 3 isoform X3

      Conserved Domains (1) summary
      cl21543
      Location:114 → 244
      MMPL; MMPL family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      11022097..11081879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337829.1 → XP_054193804.1  protein dispatched homolog 3 isoform X8

    2. XM_054337822.1 → XP_054193797.1  protein dispatched homolog 3 isoform X1

      UniProtKB/Swiss-Prot
      Q5VTU9, Q9P2K9, Q9UJD6

    3. XM_054337823.1 → XP_054193798.1  protein dispatched homolog 3 isoform X2

    4. XM_054337825.1 → XP_054193800.1  protein dispatched homolog 3 isoform X4

    5. XM_054337826.1 → XP_054193801.1  protein dispatched homolog 3 isoform X5

    6. XM_054337827.1 → XP_054193802.1  protein dispatched homolog 3 isoform X6

    7. XM_054337828.1 → XP_054193803.1  protein dispatched homolog 3 isoform X7

    8. XM_054337830.1 → XP_054193805.1  protein dispatched homolog 3 isoform X9

    9. XM_054337824.1 → XP_054193799.1  protein dispatched homolog 3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2K9.2 GenPept UniProtKB/Swiss-Prot:Q9P2K9

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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