• Gene id: 9873

Gene Summary

• Gene Symbol: FCHSD2   Gene   UCSC   Ensembl
• Aliases: NWK, NWK1, SH3MD3
• Gene name: FCH and double SH3 domains 2
• Alternate names: F-BAR and double SH3 domains protein 2, FCH and double SH3 domains protein 2, SH3 multiple domains 3, SH3 multiple domains protein 3, carom, nervous wreck homolog, protein nervous wreck 1,
• Gene location: 11q13.4 (207421: 202923)     Exons: 4     NC_000011.10
• OMIM: 617556

Protein Summary

• Protein general information: O94868  
  • Name: F BAR and double SH3 domains protein 2 (Carom) (Protein nervous wreck 1) (NWK1) (SH3 multiple domains protein 3)
  • Length: 740  
  • Mass: 84276
  • Tissue specificity: Liver, brain, heart, placenta, skeletal muscle, pancreas, lung and kidney. {ECO
• Sequence:

  MQPPPRKVKVTQELKNIQVEQMTKLQAKHQAECDLLEDMRTFSQKKAAIEREYAQGMQKLASQYLKRDWPGVKAD
  DRNDYRSMYPVWKSFLEGTMQVAQSRMNICENYKNFISEPARTVRSLKEQQLKRCVDQLTKIQTELQETVKDLAK
  GKKKYFETEQMAHAVREKADIEAKSKLSLFQSRISLQKASVKLKARRSECNSKATHARNDYLLTLAAANAHQDRY
  YQTDLVNIMKALDGNVYDHLKDYLIAFSRTELETCQAVQNTFQFLLENSSKVVRDYNLQLFLQENAVFHKPQPFQ
  FQPCDSDTSRQLESETGTTEEHSLNKEARKWATRVAREHKNIVHQQRVLNDLECHGAAVSEQSRAELEQKIDEAR
  ENIRKAEIIKLKAEARLDLLKQIGVSVDTWLKSAMNQVMEELENERWARPPAVTSNGTLHSLNADTEREEGEEFE
  DNMDVFDDSSSSPSGTLRNYPLTCKVVYSYKASQPDELTIEEHEVLEVIEDGDMEDWVKARNKVGQVGYVPEKYL
  QFPTSNSLLSMLQSLAALDSRSHTSSNSTEAELVSGSLNGDASVCFVKALYDYEGQTDDELSFPEGAIIRILNKE
  NQDDDGFWEGEFNGRIGVFPSVLVEELSASENGDTPWMREIQISPSPKPHASLPPLPLYDQPPSSPYPSPDKRSS
  LYFPRSPSANEKSLHAESPGFSQASRHTPETSYGKLRPVRAAPPPPTQNHRRPAEKIEDVEITLV

• Structural information:
  • Protein Domains: (8..28-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (469..53-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (567..62-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR034934  IPR035556   IPR035460  IPR036028  IPR001452  
  • Prosite: PS51741 PS50002
  • CDD: cd11894 cd11761
  • PDB: 2DL5 2DL7 6GBU
  • PDBsum: 2DL5 2DL7 6GBU
  • STRING: ENSP00000386722
• Other Databases: GeneCards:  FCHSD2  Malacards:  FCHSD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0030833	regulation of actin filament polymerization	IBA	biological process
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0055037	recycling endosome	IBA	cellular component
GO:0005905	clathrin-coated pit	IDA	colocalizes with
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0120043	stereocilium shaft	ISS	cellular component
GO:0030838	positive regulation of actin filament polymerization	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0120043	stereocilium shaft	IEA	cellular component
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0044803	multi-organism membrane organization	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq