• Gene id: 4168

Gene Summary

• Gene Symbol: MCF2   Gene   UCSC   Ensembl
• Aliases: ARHGEF21, DBL
• Gene name: MCF.2 cell line derived transforming sequence
• Alternate names: proto-oncogene DBL, Oncogene MCF2 (oncogene DBL), proto-oncogene MCF-2,
• Gene location: Xq27.1 (20320059: 20314237)     Exons: 5     NC_000022.11
• Gene summary(Entrez): The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These
• OMIM: 311030

Protein Summary

• Protein general information: P10911  
  • Name: Proto oncogene DBL (Proto oncogene MCF 2) [Cleaved into: MCF2 transforming protein; DBL transforming protein]
  • Length: 925  
  • Mass: 107673
  • Tissue specificity: Isoform 1 is expressed only in brain. Isoform 3 is expressed in heart, kidney, spleen, liver and testis. Isoform 4 is expressed in brain, heart, kidney, testis, placenta, stomach and peripheral blood. The protein is detectable in brain
• Sequence:

  MAEANPRRGKMRFRRNAASFPGNLHLVLVLRPTSFLQRTFTDIGFWFSQEDFMLKLPVVMLSSVSDLLTYIDDKQ
  LTPELGGTLQYCHSEWIIFRNAIENFALTVKEMAQMLQSFGTELAETELPDDIPSIEEILAIRAERYHLLKNDIT
  AVTKEGKILLTNLEVPDTEGAVSSRLECHRQISGDWQTINKLLTQVHDMETAFDGFWEKHQLKMEQYLQLWKFEQ
  DFQQLVTEVEFLLNQQAELADVTGTIAQVKQKIKKLENLDENSQELLSKAQFVILHGHKLAANHHYALDLICQRC
  NELRYLSDILVNEIKAKRIQLSRTFKMHKLLQQARQCCDEGECLLANQEIDKFQSKEDAQKALQDIENFLEMALP
  FINYEPETLQYEFDVILSPELKVQMKTIQLKLENIRSIFENQQAGFRNLADKHVRPIQFVVPTPENLVTSGTPFF
  SSKQGKKTWRQNQSNLKIEVVPDCQEKRSSGPSSSLDNGNSLDVLKNHVLNELIQTERVYVRELYTVLLGYRAEM
  DNPEMFDLMPPLLRNKKDILFGNMAEIYEFHNDIFLSSLENCAHAPERVGPCFLERKDDFQMYAKYCQNKPRSET
  IWRKYSECAFFQECQRKLKHRLRLDSYLLKPVQRITKYQLLLKELLKYSKDCEGSALLKKALDAMLDLLKSVNDS
  MHQIAINGYIGNLNELGKMIMQGGFSVWIGHKKGATKMKDLARFKPMQRHLFLYEKAIVFCKRRVESGEGSDRYP
  SYSFKHCWKMDEVGITEYVKGDNRKFEIWYGEKEEVYIVQASNVDVKMTWLKEIRNILLKQQELLTVKKRKQQDQ
  LTERDKFQISLQQNDEKQQGAFISTEETELEHTSTVVEVCEAIASVQAEANTVWTEASQSAEISEEPAEWSSNYF
  YPTYDENEEENRPLMRPVSEMALLY

• Structural information:
  • Protein Domains: (1..8-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056-)
    (495..67-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (687..80-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR001251  IPR035899  IPR000219  IPR001331  IPR011993   IPR001849  IPR018159  
  • Prosite: PS50191 PS00741 PS50010 PS50003
  • CDD: cd00160
  • STRING: ENSP00000430276
• Other Databases: GeneCards:  MCF2  Malacards:  MCF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	TAS	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:0005829	cytosol	TAS	cellular component
GO:0050771	negative regulation of axonogenesis	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016358	dendrite development	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray