• Gene id: 5789

Gene Summary

• Gene Symbol: PTPRD   Gene   UCSC   Ensembl
• Aliases: HPTP, HPTPD, HPTPDELTA, PTPD, R-PTP-delta, RPTPDELTA
• Gene name: protein tyrosine phosphatase receptor type D
• Alternate names: receptor-type tyrosine-protein phosphatase delta, protein tyrosine phosphatase, receptor type, delta polypeptide, rceptor-type tyrosine-protein phosphatase delta,
• Gene location: 9p24.1-p23 (10613001: 8314245)     Exons: 50     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran
• OMIM: 180297

SNPs

rs1368677

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.8972798T>A
NC_000009.11   g.8972798T>A
NG_033963.1   g.1644926A>T|SEQ=[T/A]|GENE=PTPRD

Protein Summary

• Protein general information: P23468  
  • Name: Receptor type tyrosine protein phosphatase delta (Protein tyrosine phosphatase delta) (R PTP delta) (EC 3.1.3.48)
  • Length: 1912  
  • Mass: 214760
• Sequence:

  MVHVARLLLLLLTFFLRTDAETPPRFTRTPVDQTGVSGGVASFICQATGDPRPKIVWNKKGKKVSNQRFEVIEFD
  DGSGSVLRIQPLRTPRDEAIYECVASNNVGEISVSTRLTVLREDQIPRGFPTIDMGPQLKVVERTRTATMLCAAS
  GNPDPEITWFKDFLPVDTSNNNGRIKQLRSESIGGTPIRGALQIEQSEESDQGKYECVATNSAGTRYSAPANLYV
  RELREVRRVPPRFSIPPTNHEIMPGGSVNITCVAVGSPMPYVKWMLGAEDLTPEDDMPIGRNVLELNDVRQSANY
  TCVAMSTLGVIEAIAQITVKALPKPPGTPVVTESTATSITLTWDSGNPEPVSYYIIQHKPKNSEELYKEIDGVAT
  TRYSVAGLSPYSDYEFRVVAVNNIGRGPPSEPVLTQTSEQAPSSAPRDVQARMLSSTTILVQWKEPEEPNGQIQG
  YRVYYTMDPTQHVNNWMKHNVADSQITTIGNLVPQKTYSVKVLAFTSIGDGPLSSDIQVITQTGVPGQPLNFKAE
  PESETSILLSWTPPRSDTIANYELVYKDGEHGEEQRITIEPGTSYRLQGLKPNSLYYFRLAARSPQGLGASTAEI
  SARTMQSKPSAPPQDISCTSPSSTSILVSWQPPPVEKQNGIITEYSIKYTAVDGEDDKPHEILGIPSDTTKYLLE
  QLEKWTEYRITVTAHTDVGPGPESLSVLIRTNEDVPSGPPRKVEVEAVNSTSVKVSWRSPVPNKQHGQIRGYQVH
  YVRMENGEPKGQPMLKDVMLADAQWEFDDTTEHDMIISGLQPETSYSLTVTAYTTKGDGARSKPKLVSTTGAVPG
  KPRLVINHTQMNTALIQWHPPVDTFGPLQGYRLKFGRKDMEPLTTLEFSEKEDHFTATDIHKGASYVFRLSARNK
  VGFGEEMVKEISIPEEVPTGFPQNLHSEGTTSTSVQLSWQPPVLAERNGIITKYTLLYRDINIPLLPMEQLIVPA
  DTTMTLTGLKPDTTYDVKVRAHTSKGPGPYSPSVQFRTLPVDQVFAKNFHVKAVMKTSVLLSWEIPENYNSAMPF
  KILYDDGKMVEEVDGRATQKLIVNLKPEKSYSFVLTNRGNSAGGLQHRVTAKTAPDVLRTKPAFIGKTNLDGMIT
  VQLPEVPANENIKGYYIIIVPLKKSRGKFIKPWESPDEMELDELLKEISRKRRSIRYGREVELKPYIAAHFDVLP
  TEFTLGDDKHYGGFTNKQLQSGQEYVFFVLAVMEHAESKMYATSPYSDPVVSMDLDPQPITDEEEGLIWVVGPVL
  AVVFIICIVIAILLYKRKRAESDSRKSSIPNNKEIPSHHPTDPVELRRLNFQTPGMASHPPIPILELADHIERLK
  ANDNLKFSQEYESIDPGQQFTWEHSNLEVNKPKNRYANVIAYDHSRVLLSAIEGIPGSDYVNANYIDGYRKQNAY
  IATQGSLPETFGDFWRMIWEQRSATVVMMTKLEERSRVKCDQYWPSRGTETHGLVQVTLLDTVELATYCVRTFAL
  YKNGSSEKREVRQFQFTAWPDHGVPEHPTPFLAFLRRVKTCNPPDAGPMVVHCSAGVGRTGCFIVIDAMLERIKH
  EKTVDIYGHVTLMRAQRNYMVQTEDQYIFIHDALLEAVTCGNTEVPARNLYAYIQKLTQIETGENVTGMELEFKR
  LASSKAHTSRFISANLPCNKFKNRLVNIMPYESTRVCLQPIRGVEGSDYINASFIDGYRQQKAYIATQGPLAETT
  EDFWRMLWEHNSTIVVMLTKLREMGREKCHQYWPAERSARYQYFVVDPMAEYNMPQYILREFKVTDARDGQSRTV
  RQFQFTDWPEQGVPKSGEGFIDFIGQVHKTKEQFGQDGPISVHCSAGVGRTGVFITLSIVLERMRYEGVVDIFQT
  VKMLRTQRPAMVQTEDQYQFSYRAALEYLGSFDHYAT

• Structural information:
  • Protein Domains: (24..11-)
    1 (/note="Ig-like-C2-type)
    (126..22-)
    2 (/note="Ig-like-C2-type)
    (236..31-)
    3 (/note="Ig-like-C2-type)
    (325..41-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (420..51-)
    (/n-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR029021  IPR000242  IPR016130  IPR003595  IPR000387  
  • Prosite: PS50853 PS50835 PS00383 PS50056 PS50055
  • CDD: cd00063
  • PDB: 1X5Z 2DLH 2YD6 2YD7 4RCA 5WY8 5XNP
  • PDBsum: 1X5Z 2DLH 2YD6 2YD7 4RCA 5WY8 5XNP
  • DIP: 17023
  • STRING: ENSP00000370593
• Other Databases: GeneCards:  PTPRD  Malacards:  PTPRD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099560	synaptic membrane adhesion	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IBA	molecular function
GO:0006470	protein dephosphorylation	IBA	biological process
GO:0051965	positive regulation of synapse assembly	ISS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007185	transmembrane receptor protein tyrosine phosphatase signaling pathway	TAS	biological process
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0006796	phosphate-containing compound metabolic process	NAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0099560	synaptic membrane adhesion	IEA	biological process
GO:0099151	regulation of postsynaptic density assembly	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0005102	signaling receptor binding	ISS	molecular function
GO:0050839	cell adhesion molecule binding	ISS	molecular function
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0050775	positive regulation of dendrite morphogenesis	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0099560	synaptic membrane adhesion	IMP	biological process
GO:0099545	trans-synaptic signaling by trans-synaptic complex	IMP	biological process
GO:0099545	trans-synaptic signaling by trans-synaptic complex	IDA	biological process
GO:1905606	regulation of presynapse assembly	IMP	biological process
GO:1905606	regulation of presynapse assembly	IDA	biological process
GO:0099560	synaptic membrane adhesion	IMP	biological process
GO:0099560	synaptic membrane adhesion	IDA	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

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