FRMPD3 (FERM and PDZ domain containing 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 84443
• Gene name: FERM and PDZ domain containing 3
• Gene symbol: FRMPD3
• Synonyms (NCBI Gene): -
• Chromosome: X
• Chromosome location: Xq22.3
• Summary: This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involve

miRNA Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT711447	hsa-miR-8485	HITS-CLIP	19536157
MIRT711446	hsa-miR-603	HITS-CLIP	19536157
MIRT711445	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT711444	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT711443	hsa-miR-3166	HITS-CLIP	19536157
MIRT711442	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT614484	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT614483	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT614482	hsa-miR-4514	HITS-CLIP	23824327
MIRT614481	hsa-miR-4692	HITS-CLIP	23824327
MIRT614480	hsa-miR-4645-5p	HITS-CLIP	23824327
MIRT614479	hsa-miR-4673	HITS-CLIP	23824327
MIRT614478	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT614477	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT490466	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT490465	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT490464	hsa-miR-876-3p	PAR-CLIP	23592263
MIRT490463	hsa-miR-3688-5p	PAR-CLIP	23592263
MIRT711447	hsa-miR-8485	HITS-CLIP	19536157
MIRT711446	hsa-miR-603	HITS-CLIP	19536157
MIRT711445	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT711444	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT711443	hsa-miR-3166	HITS-CLIP	19536157
MIRT711442	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT614484	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT614483	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT614482	hsa-miR-4514	HITS-CLIP	23824327
MIRT614481	hsa-miR-4692	HITS-CLIP	23824327
MIRT614480	hsa-miR-4645-5p	HITS-CLIP	23824327
MIRT614479	hsa-miR-4673	HITS-CLIP	23824327
MIRT614478	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT614477	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT490466	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT490465	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT490464	hsa-miR-876-3p	PAR-CLIP	23592263
MIRT490463	hsa-miR-3688-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	TAS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0070821	Component	Tertiary granule membrane	TAS

Other IDs

• MIM: 301005
• HGNC: 29382
• e!Ensembl: ENSG00000147234

Protein

• UniProt ID: Q5JV73
• Protein name: FERM and PDZ domain-containing protein 3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00373	FERM_M	270 → 400	FERM central domain	Domain
  PF00595	PDZ	54 → 128	PDZ domain	Domain

• Sequence:

  METLDSQRVQDRLLAAPGCSSPSGQQELFSSHVMQEESANDMECEQLPAEILRQVTVHRD
  PIYGFGFVAGSERPVVVRSVRPGGPSENKLLAGDQIVAINEEDVSEAPRERLIELIRSAK
  EFIVLTVLHTHQSPKSAFISAAKKAKLRSNPVKVRFSEQVAVGETDAKMMKKEALLLIPN
  VLKVFLENGQIKSFTFDGRTTVKDVMLTLQDRLSLRFIEHFALVLEYAGPEQNHKFLLLQ
  DKQPLAYVVQRTHYHGMKCLFRISFFPKDPVELLRRDPAAFEYLYIQSRNDVIRERFGMD
  PKPEMLLGLAALHIYITVSATRPSQKISLKNVEKEWGLEPFLPPSLLQVIKEKNLRKSLS
  QQLKAHQTHPSCGTKGSAIQAKLQYLRILNELPTFTGVLFNTVGLDEKQSATTLLVGPRH
  GISHVIDLKTNLTTVLSEFSKISKIQLFRENQGVARVETSIMDAKPLVLLMEWPEATNFA
  CLIAGYCRLLLDSRKMVFSRPASQPLPPPMIKADYMHSAHRPVTGGHLGKKESSYVGSVG
  TSPRKSSRCTPPPADSELVSFCYLHMREQRKEQESRTDVNENLIFFEETRPRTKSDPTSK
  SSGQGYEVVPDDFDAASLDHEPCASRARSYTLDNSLGAEALNFYCDSCKAKLQEQLGPRK
  GGKPGSSRDNIVDLMSLPPPGSEEEEEEEDETTSLLPAIAAPPPGFRDNSSDEDDPKRRA
  VQSQEQGRHLRGLLYDEIPVTLIDSVQTRTVRDHAQELDDALVSTLQALEALAASEDGPH
  PPPPQTAGLIVLATITPESSLDSGHETNSSELTDMSEMMSAMKQHQNTTYFLAQHLNKDS
  LLARKDLPFRIQSCAAQAVLTAPYSLGRPDPNPSLQPIATGQSPGPPGARRKLPQSEGQV
  QGERTYSLAVHPALSPQLSEQKNLSLLSPVPEDKGPGHTRAGLEMSLRAATSSLSEEQVS
  ELRDNLPKEVRLSPKLILDPKSSVTPAIISAALQQVVHNKSLVTAGGALGNPPSRGERRL
  EASMGRPEVSMMSSSASKNLKFKISPSAPETSWNSQHQLGAEVSSSPRAPTGSRADSLHL
  SQQEDSLPVQNFPPKSYLLRTSRESVGKQATGEVAGKGGPVGGKPTLQKQGTISSQGEKA
  QLESTPKRSKLEETSLVPRATYPMALQSPSCQSRSHSPSCQPHGHSPSSQSRGQSPSCQP
  RGQSPLRSQAASRQVSTMPSRKLETTLNGAHSTSEGPAKPKSSRGPFRLRNLFSATFPTR
  QKKETDERQAQLQKVKQYELEFLEELLKPPSQGELPGTEYLQPPAPGRCSCQLRSSPVQQ
  GPGMSREQRRSCDCKRICRGGRPQATQTPVPSLRGRERDRVLPSQRQPEAGPGVSLSSPI
  NVQRIRSTSLESRECRSDPESGVSCLTTCASGGECLGAPNYRKLMRRYSISELDQGDRAS
  LTSDVYPHPPLGMLPREAKEVEASLPIALGPKSRSLESPTLGDPSYVQVAPETKGPRQMA
  VFSLPEEVYRKPAELDEDSESSKCCSIRYCFYYRKCDMADDASDGKDELSYSIPMKILPG
  MKLDEQVVPVVSRTLQVLDAATCSSSSPEASRTQEIDLRVSTFEGSLAKINALRAHAYGL
  PDGFLAARLDTNELLTVLRQCVASPEARAPKPYVSQISEYKLELALKFKELRASCRRVAN
  VDKSPTHMLAAITGSFQVLSSLIETFVRLVFIVRSEAQRQELLAKVEEVVRNYTFLLRAA
  EESTARNLNQQQQQQQQQQQQQQQQQQQQQQQQQQQVAAAAGAATEHPPGSPTSATVMST
  FTHSLKTLIK

• Sequence length: 1810

Pathways

Reactome Pathway:

Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormality of neuronal migration	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low-frequency hearing loss	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low-frequency sensorineural hearing impairment	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	39519104	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for FRMPD3.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to FRMPD3.