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

Gene ID: 57540, updated on 3-Apr-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, Apr 2022]
Expression
Biased expression in brain (RPKM 1.6), testis (RPKM 1.4) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
1p36.22
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11479155..11537551)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11022097..11081879)
105.20220307 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
  • 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_2023_10

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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