DISP3 (dispatched RND transporter family member 3)

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Gene Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 57540
• Gene name: Dispatched RND transporter family member 3
• Gene symbol: DISP3
• Synonyms (NCBI Gene): PTCHD2
• Chromosome: 1
• Chromosome location: 1p36.22

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	25281927
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS	19179482
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007224	Process	Smoothened signaling pathway	NAS	16258256
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	15645143
GO:0030154	Process	Cell differentiation	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0031965	Component	Nuclear membrane	ISS	19179482
GO:0032368	Process	Regulation of lipid transport	NAS	15645143
GO:0042632	Process	Cholesterol homeostasis	ISS	19179482
GO:0045665	Process	Negative regulation of neuron differentiation	IDA	25281927
GO:0045834	Process	Positive regulation of lipid metabolic process	IDA	25281927
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IDA	25281927

Other IDs

• MIM: 611251
• HGNC: 29251
• e!Ensembl: ENSG00000204624

Protein

• UniProt ID: Q9P2K9
• Protein name: Protein dispatched homolog 3 (Patched domain-containing protein 2)
• Protein function: Plays a role in neuronal proliferation and differentiation (PubMed:25281927). Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation (PubMed:25281927). May contribute to choles
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02460	Patched	412 → 780	Patched family	Family
  PF02460	Patched	1166 → 1346	Patched family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and testis (PubMed:15645143). {ECO:0000269|PubMed:15645143}.
• Sequence:

  MDTEDDPLLQDVWLEEEQEEEEATGETFLGAQKPGPQPGAGGQCCWRHWPLASRPPASGF
  WSTLGWAFTNPCCAGLVLFLGCSIPMALSAFMFLYYPPLDIDISYNAFEIRNHEASQRFD
  ALTLALKSQFGSWGRNRRDLADFTSETLQRLISEQLQQLHLGNRSRQASRAPRVIPAASL
  GGPGPYRDTSAAQKPTANRSGRLRRETPPLEDLAANQSEDPRNQRLSKNGRYQPSIPPHA
  AVAANQSRARRGASRWDYSRAYVSANTQTHAHWRIELIFLARGDAERNIFTSERLVTIHE
  IERKIMDHPGFREFCWKPHEVLKDLPLGSYSYCSPPSSLMTYFFPTERGGKIYYDGMGQD
  LADIRGSLELAMTHPEFYWYVDEGLSADNLKSSLLRSEILFGAPLPNYYSVDDRWEEQRA
  KFQSFVVTYVAMLAKQSTSKVQVLYGGTDLFDYEVRRTFNNDMLLAFISSSCIAALVYIL
  TSCSVFLSFFGIASIGLSCLVALFLYHVVFGIQYLGILNGVAAFVIVGIGVDDVFVFINT
  YRQATHLEDPQLRMIHTVQTAGKATFFTSLTTAAAYAANVFSQIPAVHDFGLFMSLIVSC
  CWLAVLVTMPAALGLWSLYLAPLESSCQTSCHQNCSRKTSLHFPGDVFAAPEQVGGSPAQ
  GPIPYLDDDIPLLEVEEEPVSLELGDVSLVSVSPEGLQPASNTGSRGHLIVQLQELLHHW
  VLWSAVKSRWVIVGLFVSILILSLVFASRLRPASRAPLLFRPDTNIQVLLDLKYNLSAEG
  ISCITCSGLFQEKPHSLQNNIRTSLEKKRRGSGVPWASRPEATLQDFPGTVYISKVKSQG
  HPAVYRLSLNASLPAPWQAVSPGDGEVPSFQVYRAPFGNFTKKLTACMSTVGLLQAASPS
  RKWMLTTLACDAKRGWKFDFSFYVATKEQQHTRKLYFAQSHKPPFHGRVCMAPPGCLLSS
  SPDGPTKGFFFVPSEKVPKARLSATFGFNPCVNTGCGKPAVRPLVDTGAMVFVVFGIIGV
  NRTRQVDNHVIGDPGSVVYDSSFDLFKEIGHLCHLCKAIAANSELVKPGGAQCLPSGYSI
  SSFLQMLHPECKELPEPNLLPGQLSHGAVGVREGRVQWISMAFESTTYKGKSSFQTYSDY
  LRWESFLQQQLQALPEGSVLRRGFQTCEHWKQIFMEIVGVQSALCGLVLSLLICVAAVAV
  FTTHILLLLPVLLSILGIVCLVVTIMYWSGWEMGAVEAISLSILVGSSVDYCVHLVEGYL
  LAGENLPPHQAEDARTQRQWRTLEAVRHVGVAIVSSALTTVIATVPLFFCIIAPFAKFGK
  IVALNTGVSILYTLTVSTALLGIMAPSSFTRTRTSFLKALGAVLLAGALGLGACLVLLQS
  GYKIPLPAGASL

• Sequence length: 1392

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	32595297	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISP3-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Pancreatic Cyst	Pancreatic Cyst	BEFREE	28148542		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for DISP3.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to DISP3.