FRMPD2 (FERM and PDZ domain containing 2)

Gene

• Entrez ID: 143162
• Gene name: FERM and PDZ domain containing 2
• Gene symbol: FRMPD2
• Synonyms (NCBI Gene): PDZD5C, PDZK4, PDZK5C
• Chromosome: 10
• Chromosome location: 10q11.22
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1004853	hsa-miR-302a	CLIP-seq
MIRT1004854	hsa-miR-302b	CLIP-seq
MIRT1004855	hsa-miR-302c	CLIP-seq
MIRT1004856	hsa-miR-302d	CLIP-seq
MIRT1004857	hsa-miR-302e	CLIP-seq
MIRT1004858	hsa-miR-372	CLIP-seq
MIRT1004859	hsa-miR-373	CLIP-seq
MIRT1004860	hsa-miR-4476	CLIP-seq
MIRT1004861	hsa-miR-455-3p	CLIP-seq
MIRT1004862	hsa-miR-4716-5p	CLIP-seq
MIRT1004863	hsa-miR-520a-3p	CLIP-seq
MIRT1004864	hsa-miR-520b	CLIP-seq
MIRT1004865	hsa-miR-520c-3p	CLIP-seq
MIRT1004866	hsa-miR-520d-3p	CLIP-seq
MIRT1004867	hsa-miR-520e	CLIP-seq
MIRT1997897	hsa-miR-1197	CLIP-seq
MIRT1997898	hsa-miR-4533	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19706687
GO:0005545	Function	1-phosphatidylinositol binding	IBA
GO:0005545	Function	1-phosphatidylinositol binding	IDA	19706687
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	19706687
GO:0005923	Component	Bicellular tight junction	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	19706687
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0045177	Component	Apical part of cell	IBA
GO:0045202	Component	Synapse	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0070830	Process	Bicellular tight junction assembly	IMP	19706687

Other IDs

• MIM: 613323
• HGNC: 28572
• e!Ensembl: ENSG00000170324

Protein

• UniProt ID: Q68DX3
• Protein name: FERM and PDZ domain-containing protein 2 (PDZ domain-containing protein 4) (PDZ domain-containing protein 5C)
• Protein function: Functions as a scaffold protein and likely plays a role in N-methyl-D-aspartic acid receptor (NMDAR)-mediated synaptic excitatory transmission (By similarity). May be involved in synapse formation in cone photoreceptor cells (By similarity). May
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	346 → 408	FERM N-terminal domain	Domain
  PF00373	FERM_M	434 → 550	FERM central domain	Domain
  PF09380	FERM_C	557 → 646	FERM C-terminal PH-like domain	Domain
  PF00595	PDZ	775 → 858	PDZ domain	Domain
  PF00595	PDZ	951 → 1032	PDZ domain	Domain
  PF00595	PDZ	1079 → 1164	PDZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in epithelial cells. {ECO:0000269|PubMed:19706687}.
• Sequence:

  MQPLTKDAGMSLSSVTLASALQVRGEALSEEEIWSLLFLAAEQLLEDLRNDSSDYVVCPW
  SALLSAAGSLSFQGRVSHIEAAPFKAPELLQGQSEDEQPDASQMHVYSLGMTLYWSAGFH
  VPPHQPLQLCEPLHSILLTMCEDQPHRRCTLQSVLEACRVHEKEVSVYPAPAGLHIRRLV
  GLVLGTISEVEKRVVEESSSVQQNRSYLLRKRLRGTSSESPAAQAPECLHPCRVSERSTE
  TQSSPEPHWSTLTHSHCSLLVNRALPGADPQDQQAGRRLSSGSVHSAADSSWPTTPSQRG
  FLQRRSKFSRPEFILLAGEAPMTLHLPGSVVTKKGKSYLALRDLCVVLLNGQHLEVKCDV
  ESTVGAVFNAVTSFANLEELTYFGLAYMKSKEFFFLDSETRLCKIAPEGWREQPQKTSMN
  TFTLFLRIKFFVSHYGLLQHSLTRHQFYLQLRKDILEERLYCNEEILLQLGVLALQAEFG
  NYPKEQVESKPYFHVEDYIPASLIERMTALRVQVEVSEMHRLSSALWGEDAELKFLRVTQ
  QLPEYGVLVHQVFSEKRRPEEEMALGICAKGVIVYEVKNNSRIAMLRFQWRETGKISTYQ
  KKFTITSSVTGKKHTFVTDSAKTSKYLLDLCSAQHGFNAQMGSGQPSHVLFDHDKFVQMA
  NLSPAHQARSKPLIWIQRLSCSENELFVSRLQGAAGGLLSTSMDNFNVDGSKEAGAEGIG
  RSPCTGREQLKSACVIQKPMTWDSLSGPPVQSMHAGSKNNRRKSFIAEPGREIVRVTLKR
  DPHRGFGFVINEGEYSGQADPGIFISSIIPGGPAEKAKTIKPGGQILALNHISLEGFTFN
  MAVRMIQNSPDNIELIISQSKGVGGNNPDEEKNSTANSGVSSTDILSFGYQGSLLSHTQD
  QDRNTEELDMAGVQSLVPRLRHQLSFLPLKGAGSSCPPSPPEISAGEIYFVELVKEDGTL
  GFSVTGGINTSVPYGGIYVKSIVPGGPAAKEGQILQGDRLLQVDGVILCGLTHKQAVQCL
  TGPGQVARLVLERRVPRSTQQCPSANDSMGDERTAVSLVTALPGRPSSCVSVTDGPKFEV
  KLKKNANGLGFSFVQMEKESCSHLKSDLVRIKRLFPGQPAEENGAIAAGDIILAVNGRST
  EGLIFQEVLHLLRGAPQEVTLLLCRPPPGALPELEQEWQTPELSADKEFTRATCTDSCTS
  PILDQEDSWRDSASPDAGEGLGLRPESSQKAIREAQWGQNRERPWASSLTHSPESHPHLC
  KLHQERDESTLATSLEKDVRQNCYSVCDIMRLGRYSFSSPLTRLSTDIF

• Sequence length: 1309

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Fibromuscular Dysplasia	Fibromuscular dysplasia	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Myopia	Myopia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Renal Cell	Associate	28349958
Crohn Disease	Associate	23213202
Inflammation	Associate	23213202