• Gene id: 55691

Gene Summary

• Gene Symbol: FRMD4A   Gene   UCSC   Ensembl
• Aliases: CCAFCA, FRMD4, bA295P9.4
• Gene name: FERM domain containing 4A
• Alternate names: FERM domain-containing protein 4A, FERM domain containing 4,
• Gene location: 10p13 (14330923: 13638299)     Exons: 38     NC_000010.11
• Gene summary(Entrez): This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation du
• OMIM: 603050

Protein Summary

• Protein general information: Q9P2Q2  
  • Name: FERM domain containing protein 4A
  • Length: 1039  
  • Mass: 115458
• Sequence:

  MAVQLVPDSALGLLMMTEGRRCQVHLLDDRKLELLVQPKLLAKELLDLVASHFNLKEKEYFGIAFTDETGHLNWL
  QLDRRVLEHDFPKKSGPVVLYFCVRFYIESISYLKDNATIELFFLNAKSCIYKELIDVDSEVVFELASYILQEAK
  GDFSSNEVVRSDLKKLPALPTQALKEHPSLAYCEDRVIEHYKKLNGQTRGQAIVNYMSIVESLPTYGVHYYAVKD
  KQGIPWWLGLSYKGIFQYDYHDKVKPRKIFQWRQLENLYFREKKFSVEVHDPRRASVTRRTFGHSGIAVHTWYAC
  PALIKSIWAMAISQHQFYLDRKQSKSKIHAARSLSEIAIDLTETGTLKTSKLANMGSKGKIISGSSGSLLSSGSQ
  ESDSSQSAKKDMLAALKSRQEALEETLRQRLEELKKLCLREAELTGKLPVEYPLDPGEEPPIVRRRIGTAFKLDE
  QKILPKGEEAELERLEREFAIQSQITEAARRLASDPNVSKKLKKQRKTSYLNALKKLQEIENAINENRIKSGKKP
  TQRASLIIDDGNIASEDSSLSDALVLEDEDSQVTSTISPLHSPHKGLPPRPPSHNRPPPPQSLEGLRQMHYHRND
  YDKSPIKPKMWSESSLDEPYEKVKKRSSHSHSSSHKRFPSTGSCAEAGGGSNSLQNSPIRGLPHWNSQSSMPSTP
  DLRVRSPHYVHSTRSVDISPTRLHSLALHFRHRSSSLESQGKLLGSENDTGSPDFYTPRTRSSNGSDPMDDCSSC
  TSHSSSEHYYPAQMNANYSTLAEDSPSKARQRQRQRQRAAGALGSASSGSMPNLAARGGAGGAGGAGGGVYLHSQ
  SQPSSQYRIKEYPLYIEGGATPVVVRSLESDQEGHYSVKAQFKTSNSYTAGGLFKESWRGGGGDEGDTGRLTPSR
  SQILRTPSLGREGAHDKGAGRAAVSDELRQWYQRSTASHKEHSRLSHTSSTSSDSGSQYSTSSQSTFVAHSRVTR
  MPQMCKATSAALPQSQRSSTPSSEIGATPPSSPHHILTWQTGEATENSPILDGSESPPHQSTDE

• Structural information:
  • Protein Domains: (20..32-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR021774  IPR014352  IPR035963  IPR019748   IPR019747  IPR000299  IPR018979  IPR018980  IPR041785  IPR011993  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473 cd13191
  • STRING: ENSP00000350032
• Other Databases: GeneCards:  FRMD4A  Malacards:  FRMD4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005912	adherens junction	IBA	cellular component
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0090162	establishment of epithelial cell polarity	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0050709	negative regulation of protein secretion	IEA	biological process
GO:0030674	protein-macromolecule adaptor activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0050714	positive regulation of protein secretion	IMP	biological process
GO:0005737	cytoplasm	IMP	cellular component

Diseases

Associated diseases	References
Corpus callosum agenesis with facial anomalies and cerebellar ataxia	KEGG:H02396
Corpus callosum agenesis with facial anomalies and cerebellar ataxia	KEGG:H02396
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray