• Gene id: 23263

Gene Summary

• Gene Symbol: MCF2L   Gene   UCSC   Ensembl
• Aliases: ARHGEF14, DBS, OST
• Gene name: MCF.2 cell line derived transforming sequence like
• Alternate names: guanine nucleotide exchange factor DBS, DBL's big sister, MCF2 transforming sequence-like protein,
• Gene location: 13q34 (112894377: 113099741)     Exons: 42     NC_000013.11
• Gene summary(Entrez): This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multi
• OMIM: 610146

Protein Summary

• Protein general information: O15068  
  • Name: Guanine nucleotide exchange factor DBS (DBL's big sister) (MCF2 transforming sequence like protein)
  • Length: 1137  
  • Mass: 128109
• Sequence:

  MFDCWRFILCKRPGSNSYSSPQRPNEAKKEETDHQIDVSDVIRLVQDTPEATAMATDEIMHQDIVPLCAADIQDQ
  LKKRFAYLSGGRGQDGSPVITFPDYPAFSEIPDKEFQNVMTYLTSIPSLQDAGIGFILVIDRRRDKWTSVKASVL
  RIAASFPANLQLVLVLRPTGFFQRTLSDIAFKFNRDDFKMKVPVIMLSSVPDLHGYIDKSQLTEDLGGTLDYCHS
  RWLCQRTAIESFALMVKQTAQMLQSFGTELAETELPNDVQSTSSVLCAHTEKKDKAKEDLRLALKEGHSVLESLR
  ELQAEGSEPSVNQDQLDNQATVQRLLAQLNETEAAFDEFWAKHQQKLEQCLQLRHFEQGFREVKAILDAASQKIA
  TFTDIGNSLAHVEHLLRDLASFEEKSGVAVERARALSLDGEQLIGNKHYAVDSIRPKCQELRHLCDQFSAEIARR
  RGLLSKSLELHRRLETSMKWCDEGIYLLASQPVDKCQSQDGAEAALQEIEKFLETGAENKIQELNAIYKEYESIL
  NQDLMEHVRKVFQKQASMEEVFHRRQASLKKLAARQTRPVQPVAPRPEALAKSPCPSPGIRRGSENSSSEGGALR
  RGPYRRAKSEMSESRQGRGSAGEEEESLAILRRHVMSELLDTERAYVEELLCVLEGYAAEMDNPLMAHLLSTGLH
  NKKDVLFGNMEEIYHFHNRIFLRELENYTDCPELVGRCFLERMEDFQIYEKYCQNKPRSESLWRQCSDCPFFQEC
  QRKLDHKLSLDSYLLKPVQRITKYQLLLKEMLKYSRNCEGAEDLQEALSSILGILKAVNDSMHLIAITGYDGNLG
  DLGKLLMQGSFSVWTDHKRGHTKVKELARFKPMQRHLFLHEKAVLFCKKREENGEGYEKAPSYSYKQSLNMAAVG
  ITENVKGDAKKFEIWYNAREEVYIVQAPTPEIKAAWVNEIRKVLTSQLQACREASQHRALEQSQSLPLPAPTSTS
  PSRGNSRNIKKLEERKTDPLSLEGYVSSAPLTKPPEKGKGWSKTSHSLEAPEDDGGWSSAEEQINSSDAEEDGGL
  GPKKLVPGKYTVVADHEKGGPDALRVRSGDVVELVQEGDEGLWYVRDPTTGKEGWVPASSLSVRLGPSGSAQCLS
  SSGKAHVPRAHP

• Structural information:
  • Protein Domains: (52..22-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056-)
    (631..81-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (829..94-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (-)
  • Interpro: IPR001251  IPR036865  IPR035899  IPR035534  IPR035532   IPR000219  IPR001331  IPR011993  IPR001849  IPR036028  IPR001452  IPR018159  IPR002017  
  • Prosite: PS50191 PS00741 PS50010 PS50003 PS50002
  • CDD: cd01227 cd00160 cd00170 cd11857
  • STRING: ENSP00000440374
• Other Databases: GeneCards:  MCF2L  Malacards:  MCF2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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