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

Summary

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, Dec 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our findings imply that DISP3 may help dictate the NSC cell fate to either undergo self-renewal or switch to the terminal differentiation cell program.
Title: Modulated DISP3/PTCHD2 expression influences neural stem cell fate decisions.
patched domain containing 2 (PTCHD2), yielded a statistically significant P-value of 2.5 x 10(-6) (OR = 0.27) with fewer individuals classified as exhibiting symptoms of dependence to ultraviolet light, a known carcinogen, in the context of tanning
Title: Novel gene identified in an exome-wide association study of tanning dependence.
impact of DISP3 on the proliferation and differentiation of neural precursors
Title: DISP3 promotes proliferation and delays differentiation of neural progenitor cells.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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)

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

11479155..11537551

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426135.1 → XP_047282091.1 protein dispatched homolog 3 isoform X2
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
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
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
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
XM_047426138.1 → XP_047282094.1 protein dispatched homolog 3 isoform X8
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
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
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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

11022097..11081879

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337829.1 → XP_054193804.1 protein dispatched homolog 3 isoform X8
XM_054337822.1 → XP_054193797.1 protein dispatched homolog 3 isoform X1

UniProtKB/Swiss-Prot

Q5VTU9, Q9P2K9, Q9UJD6

UniProtKB/TrEMBL

F1T0I3
XM_054337823.1 → XP_054193798.1 protein dispatched homolog 3 isoform X2
XM_054337825.1 → XP_054193800.1 protein dispatched homolog 3 isoform X4
XM_054337826.1 → XP_054193801.1 protein dispatched homolog 3 isoform X5
XM_054337827.1 → XP_054193802.1 protein dispatched homolog 3 isoform X6
XM_054337828.1 → XP_054193803.1 protein dispatched homolog 3 isoform X7
XM_054337830.1 → XP_054193805.1 protein dispatched homolog 3 isoform X9
XM_054337824.1 → XP_054193799.1 protein dispatched homolog 3 isoform X3