• Gene id: 118987

Gene Summary

• Gene Symbol: PDZD8   Gene   UCSC   Ensembl
• Aliases: PDZK8
• Gene name: PDZ domain containing 8
• Alternate names: PDZ domain-containing protein 8, sarcoma antigen NY-SAR-84/NY-SAR-104,
• Gene location: 10q25.3-q26.11 (117375491: 117277273)     Exons: 8     NC_000010.11
• OMIM: 614235

Protein Summary

• Protein general information: Q8NEN9  
  • Name: PDZ domain containing protein 8 (Sarcoma antigen NY SAR 84/NY SAR 104)
  • Length: 1154  
  • Mass: 128563
• Sequence:

  MGLLLMILASAVLGSFLTLLAQFFLLYRRQPEPPADEAARAGEGFRYIKPVPGLLLREYLYGGGRDEEPSGAAPE
  GGATPTAAPETPAPPTRETCYFLNATILFLFRELRDTALTRRWVTKKIKVEFEELLQTKTAGRLLEGLSLRDVFL
  GETVPFIKTIRLVRPVVPSATGEPDGPEGEALPAACPEELAFEAEVEYNGGFHLAIDVDLVFGKSAYLFVKLSRV
  VGRLRLVFTRVPFTHWFFSFVEDPLIDFEVRSQFEGRPMPQLTSIIVNQLKKIIKRKHTLPNYKIRFKPFFPYQT
  LQGFEEDEEHIHIQQWALTEGRLKVTLLECSRLLIFGSYDREANVHCTLELSSSVWEEKQRSSIKTVELIKGNLQ
  SVGLTLRLVQSTDGYAGHVIIETVAPNSPAAIADLQRGDRLIAIGGVKITSTLQVLKLIKQAGDRVLVYYERPVG
  QSNQGAVLQDNFGQLEENFLSSSCQSGYEEEAAGLTVDTESRELDSEFEDLASDVRAQNEFKDEAQSLSHSPKRV
  PTTLSIKPLGAISPVLNRKLAVGSHPLPPKIQSKDGNKPPPLKTSEITDPAQVSKPTQGSAFKPPVPPRPQAKVP
  LPSADAPNQAEPDVLVEKPEKVVPPPLVDKSAEKQAKNVDAIDDAAAPKQFLAKQEVAKDVTSETSCPTKDSSDD
  RQTWESSEILYRNKLGKWTRTRASCLFDIEACHRYLNIALWCRDPFKLGGLICLGHVSLKLEDVALGCLATSNTE
  YLSKLRLEAPSPKAIVTRTALRNLSMQKGFNDKFCYGDITIHFKYLKEGESDHHVVTNVEKEKEPHLVEEVSVLP
  KEEQFVGQMGLTENKHSFQDTQFQNPTWCDYCKKKVWTKAASQCMFCAYVCHKKCQEKCLAETSVCGATDRRIDR
  TLKNLRLEGQETLLGLPPRVDAEASKSVNKTTGLTRHIINTSSRLLNLRQVSKTRLSEPGTDLVEPSPKHTPNTS
  DNEGSDTEVCGPNSPSKRGNSTGIKLVRKEGGLDDSVFIAVKEIGRDLYRGLPTEERIQKLEFMLDKLQNEIDQE
  LEHNNSLVREEKETTDTRKKSLLSAALAKSGERLQALTLLMIHYRAGIEDIETLESLSLDQHSKKISKYTDDTEE
  DLDNEISQLIDSQPFSSISDDLFGPSESV

• Structural information:
  • Protein Domains: (91..29-)
    (/note="SMP-LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01194,-ECO:0000305|PubMed:29097544)
    (366..44-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR041489  IPR036034  IPR039275  IPR002219   IPR031468  
  • Prosite: PS50106 PS51847 PS50081
  • CDD: cd00029
  • STRING: ENSP00000334642
• Other Databases: GeneCards:  PDZD8  Malacards:  PDZD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051560	mitochondrial calcium ion homeostasis	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IDA	cellular component
GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	IDA	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0022604	regulation of cell morphogenesis	IMP	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IEA	cellular component
GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IEA	cellular component
GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray