• Gene id: 57540

Gene Summary

• Gene Symbol: DISP3   Gene   UCSC   Ensembl
• Aliases: PTCHD2
• Gene name: dispatched RND transporter family member 3
• Alternate names: protein dispatched homolog 3, dispatched 3, dispatched homolog 3, patched domain containing 2, patched domain-containing protein 2,
• Gene location: 1p36.22 (11479154: 11537582)     Exons: 24     NC_000001.11

Protein Summary

• Protein general information: Q9P2K9  
  • Name: Protein dispatched homolog 3 (Patched domain containing protein 2)
  • Length: 1392  
  • Mass: 153048
  • Tissue specificity: Expressed in brain and testis (PubMed
• Sequence:

  MDTEDDPLLQDVWLEEEQEEEEATGETFLGAQKPGPQPGAGGQCCWRHWPLASRPPASGFWSTLGWAFTNPCCAG
  LVLFLGCSIPMALSAFMFLYYPPLDIDISYNAFEIRNHEASQRFDALTLALKSQFGSWGRNRRDLADFTSETLQR
  LISEQLQQLHLGNRSRQASRAPRVIPAASLGGPGPYRDTSAAQKPTANRSGRLRRETPPLEDLAANQSEDPRNQR
  LSKNGRYQPSIPPHAAVAANQSRARRGASRWDYSRAYVSANTQTHAHWRIELIFLARGDAERNIFTSERLVTIHE
  IERKIMDHPGFREFCWKPHEVLKDLPLGSYSYCSPPSSLMTYFFPTERGGKIYYDGMGQDLADIRGSLELAMTHP
  EFYWYVDEGLSADNLKSSLLRSEILFGAPLPNYYSVDDRWEEQRAKFQSFVVTYVAMLAKQSTSKVQVLYGGTDL
  FDYEVRRTFNNDMLLAFISSSCIAALVYILTSCSVFLSFFGIASIGLSCLVALFLYHVVFGIQYLGILNGVAAFV
  IVGIGVDDVFVFINTYRQATHLEDPQLRMIHTVQTAGKATFFTSLTTAAAYAANVFSQIPAVHDFGLFMSLIVSC
  CWLAVLVTMPAALGLWSLYLAPLESSCQTSCHQNCSRKTSLHFPGDVFAAPEQVGGSPAQGPIPYLDDDIPLLEV
  EEEPVSLELGDVSLVSVSPEGLQPASNTGSRGHLIVQLQELLHHWVLWSAVKSRWVIVGLFVSILILSLVFASRL
  RPASRAPLLFRPDTNIQVLLDLKYNLSAEGISCITCSGLFQEKPHSLQNNIRTSLEKKRRGSGVPWASRPEATLQ
  DFPGTVYISKVKSQGHPAVYRLSLNASLPAPWQAVSPGDGEVPSFQVYRAPFGNFTKKLTACMSTVGLLQAASPS
  RKWMLTTLACDAKRGWKFDFSFYVATKEQQHTRKLYFAQSHKPPFHGRVCMAPPGCLLSSSPDGPTKGFFFVPSE
  KVPKARLSATFGFNPCVNTGCGKPAVRPLVDTGAMVFVVFGIIGVNRTRQVDNHVIGDPGSVVYDSSFDLFKEIG
  HLCHLCKAIAANSELVKPGGAQCLPSGYSISSFLQMLHPECKELPEPNLLPGQLSHGAVGVREGRVQWISMAFES
  TTYKGKSSFQTYSDYLRWESFLQQQLQALPEGSVLRRGFQTCEHWKQIFMEIVGVQSALCGLVLSLLICVAAVAV
  FTTHILLLLPVLLSILGIVCLVVTIMYWSGWEMGAVEAISLSILVGSSVDYCVHLVEGYLLAGENLPPHQAEDAR
  TQRQWRTLEAVRHVGVAIVSSALTTVIATVPLFFCIIAPFAKFGKIVALNTGVSILYTLTVSTALLGIMAPSSFT
  RTRTSFLKALGAVLLAGALGLGACLVLLQSGYKIPLPAGASL

• Structural information:
  • Protein Domains: (457..61-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR042480  IPR003392  IPR000731  
  • Prosite: PS50156
  • STRING: ENSP00000294484
• Other Databases: GeneCards:  DISP3  Malacards:  DISP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045834	positive regulation of lipid metabolic process	IDA	biological process
GO:2000179	positive regulation of neural precursor cell proliferation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007224	smoothened signaling pathway	NAS	biological process
GO:0032368	regulation of lipid transport	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq