• Gene id: 143162

Gene Summary

• Gene Symbol: FRMPD2   Gene   UCSC   Ensembl
• Aliases: PDZD5C, PDZK4, PDZK5C
• Gene name: FERM and PDZ domain containing 2
• Alternate names: FERM and PDZ domain-containing protein 2, PDZ domain containing 5C, PDZ domain-containing protein 4,
• Gene location: 10q11.22 (48274695: 48156558)     Exons: 31     NC_000010.11
• Gene summary(Entrez): This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal cop
• OMIM: 615927

Protein Summary

• Protein general information: Q68DX3  
  • Name: FERM and PDZ domain containing protein 2 (PDZ domain containing protein 4) (PDZ domain containing protein 5C)
  • Length: 1309  
  • Mass: 144282
  • Tissue specificity: Expressed in epithelial cells. {ECO
• Sequence:

  MQPLTKDAGMSLSSVTLASALQVRGEALSEEEIWSLLFLAAEQLLEDLRNDSSDYVVCPWSALLSAAGSLSFQGR
  VSHIEAAPFKAPELLQGQSEDEQPDASQMHVYSLGMTLYWSAGFHVPPHQPLQLCEPLHSILLTMCEDQPHRRCT
  LQSVLEACRVHEKEVSVYPAPAGLHIRRLVGLVLGTISEVEKRVVEESSSVQQNRSYLLRKRLRGTSSESPAAQA
  PECLHPCRVSERSTETQSSPEPHWSTLTHSHCSLLVNRALPGADPQDQQAGRRLSSGSVHSAADSSWPTTPSQRG
  FLQRRSKFSRPEFILLAGEAPMTLHLPGSVVTKKGKSYLALRDLCVVLLNGQHLEVKCDVESTVGAVFNAVTSFA
  NLEELTYFGLAYMKSKEFFFLDSETRLCKIAPEGWREQPQKTSMNTFTLFLRIKFFVSHYGLLQHSLTRHQFYLQ
  LRKDILEERLYCNEEILLQLGVLALQAEFGNYPKEQVESKPYFHVEDYIPASLIERMTALRVQVEVSEMHRLSSA
  LWGEDAELKFLRVTQQLPEYGVLVHQVFSEKRRPEEEMALGICAKGVIVYEVKNNSRIAMLRFQWRETGKISTYQ
  KKFTITSSVTGKKHTFVTDSAKTSKYLLDLCSAQHGFNAQMGSGQPSHVLFDHDKFVQMANLSPAHQARSKPLIW
  IQRLSCSENELFVSRLQGAAGGLLSTSMDNFNVDGSKEAGAEGIGRSPCTGREQLKSACVIQKPMTWDSLSGPPV
  QSMHAGSKNNRRKSFIAEPGREIVRVTLKRDPHRGFGFVINEGEYSGQADPGIFISSIIPGGPAEKAKTIKPGGQ
  ILALNHISLEGFTFNMAVRMIQNSPDNIELIISQSKGVGGNNPDEEKNSTANSGVSSTDILSFGYQGSLLSHTQD
  QDRNTEELDMAGVQSLVPRLRHQLSFLPLKGAGSSCPPSPPEISAGEIYFVELVKEDGTLGFSVTGGINTSVPYG
  GIYVKSIVPGGPAAKEGQILQGDRLLQVDGVILCGLTHKQAVQCLTGPGQVARLVLERRVPRSTQQCPSANDSMG
  DERTAVSLVTALPGRPSSCVSVTDGPKFEVKLKKNANGLGFSFVQMEKESCSHLKSDLVRIKRLFPGQPAEENGA
  IAAGDIILAVNGRSTEGLIFQEVLHLLRGAPQEVTLLLCRPPPGALPELEQEWQTPELSADKEFTRATCTDSCTS
  PILDQEDSWRDSASPDAGEGLGLRPESSQKAIREAQWGQNRERPWASSLTHSPESHPHLCKLHQERDESTLATSL
  EKDVRQNCYSVCDIMRLGRYSFSSPLTRLSTDIF

• Structural information:
  • Protein Domains: (15..19-)
    (/note="KIND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00709-)
    (342..64-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (775..86-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR018979  IPR018980  IPR029906  IPR011019  IPR001478  IPR036034  IPR011993  IPR029071  
  • Prosite: PS50057 PS51377 PS50106
  • CDD: cd14473
  • STRING: ENSP00000363317
• Other Databases: GeneCards:  FRMPD2  Malacards:  FRMPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005545	1-phosphatidylinositol binding	IDA	molecular function
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0070830	bicellular tight junction assembly	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray