• Gene id: 22844

Gene Summary

• Gene Symbol: FRMPD1   Gene   UCSC   Ensembl
• Aliases: FRMD2
• Gene name: FERM and PDZ domain containing 1
• Alternate names: FERM and PDZ domain-containing protein 1, FERM domain-containing protein 2,
• Gene location: 9p13.2 (37603228: 37746903)     Exons: 22     NC_000009.12
• OMIM: 616919

Protein Summary

• Protein general information: Q5SYB0  
  • Name: FERM and PDZ domain containing protein 1 (FERM domain containing protein 2)
  • Length: 1578  
  • Mass: 173437
• Sequence:

  MEELETSLFQTRKAHRIEQMVARWLRRSRDSSARAKVAAADGPARNPTQTLIPVRHTVKIDKDTLLQDYGFHISE
  SLPLTVVAVTAGGSAHGKLFPGDQILQMNNEPAEDLSWERAVDILREAEDSLSITVVRCTSGVPKSSFLTEEKRA
  RLKTNPVKVHFAEEVLISGHSQGNSLLCMPNVLKLYLENGQTKAFKFEANTTVKDIILTVKEKLSIRSIEYFALA
  LEEQYSISRLHLLHEEELIQQVVEREESHDYRCLFRVCFVPKDPLDLLKEDPVAFEYLYLQSCSDVLQERFAVEM
  KCSSALRLAALHIQERIYACAQPQKISLKYIEKDWGIENFISPTLLRNMKGKDIKKAISFHMKRNQNLLEPRQKQ
  LISAAQLRLNYLQILGELKTYGGRIFNATLMLQDRESYIALLVGAKYGISQVINSKLNIMSTLAEFANISRVELT
  EESEKVSVVKVYLQDVKVLTLLLESNSAKDLACLIAGYYRLLVDPVTSIFLWPGNKQQAHRVSAEEGYESRACSD
  SEESSEVDCVLEPLSDRRLVKLAPCRSLIKEEQPPGNSPTPEVARRGPSTCGASSTTDSAESEASDSANTESRGY
  RTSGSSESMDALEEDDLDTCSSSRSTFFHFGSPGLAESIDSDSQEERSGIETSGFLCLLDLAQRANPQCQKTEFS
  ESAALETFGWAPELSTVRLDPRLYEGSHADYYSLCSSVSPASYLSDSSESTASRQGGAPPAWGQQGWTEAQPSSM
  LEPLALHPPLAFEDGSSDEEYYDAADKLTPPGPPSGPRDVSTAEPSATSLQNKASTSSPENSLPCGPDGRQPSRR
  GGVKKYAKTLRKRRSFLQTDYTSQVSFPLVPSASLESVDDVCYYDREPYLALGAPSPTVSSLQDMQGEPGLLETK
  ALGLLAPLRETKSTNPASRVMEMEPETMETKSVIDSRVSSISAIRFRIDPNNKENSGVVPAASSSASTPHCSNPG
  SSGPDTAQARPSQILPLSQDLDGIAPKEPTIEHGDSSFSLSSGDPNPDRACLASNPGLNNVSQGDTLELQLEPHV
  QLEMGLESFCTNHIQETAPKYTEPLLSPRDEPRSDECGINPGEKIASIPTKEEPQGQLSLERDREVTNKNGTNVF
  QEESRKDSGDSPGDVSNNVSQTLDISSPAGKIVTSLSLDAPVTGTEQIPPHPPRDPQGQSREPPGQGCQAQEQKL
  FVELDLDPDFFLGKQTVSPAVPPEGIKAEAPNHVTGQDIAPRDSPEWVCFNPEPSLPEPLPCPQEDPHLETSNHC
  LLSEGKSDSSSICLSAEKSFLCFAPESHPEVSASLRVATSLGFAGMNEMVAPRIGMDQCSCQFSYATCFRGPQPE
  TEEEDRDLEAHPMAPLTSPPSAGSPVVLPWRPARAHSCTTAPLSRKSHIWPEYCSRALRQLKATPASTPEGFIQL
  MESLLELQDILETSWGVGNKHPPEKCTWHFTESRSRLCMGSQKLLSSCRHVIRMDQSPEEMQGAVRDTFQHLVQL
  AGLCFQFTDCSRCSARHREAAGNLRDVVYTYHQFIEAAKSTCERGYHDLSVKLLARQCTALTAAVFCLTQKFRAS
  TAL

• Structural information:
  • Protein Domains: (57..13-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (181..49-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR041779  IPR001478  IPR036034  IPR011993  IPR029071  
  • Prosite: PS50057 PS50106
  • CDD: cd14473 cd13183
  • PDB: 2EDV 4G2V
  • PDBsum: 2EDV 4G2V
  • STRING: ENSP00000444411
• Other Databases: GeneCards:  FRMPD1  Malacards:  FRMPD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005938	cell cortex	IBA	colocalizes with
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005938	cell cortex	IMP	colocalizes with
GO:0090150	establishment of protein localization to membrane	IMP	biological process
GO:0005886	plasma membrane	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881