• Gene id: 414918

Gene Summary

• Gene Symbol: DENND6B   Gene   UCSC   Ensembl
• Aliases: AFI1B, FAM116B
• Gene name: DENN domain containing 6B
• Alternate names: protein DENND6B, DENN domain-containing protein 6B, DENN/MADD domain containing 6B, family with sequence similarity 116, member B, protein FAM116B,
• Gene location: 22q13.33 (50327015: 50309029)     Exons: 21     NC_000022.11
• OMIM: 0

Protein Summary

• Protein general information: Q8NEG7  
  • Name: Protein DENND6B (DENN domain containing protein 6B)
  • Length: 585  
  • Mass: 66464
• Sequence:

  MDALLGTGPRRARGCLGAAGPTSSGRAARTPAAPWARFSAWLECVCVVTFDLELGQALELVYPNDFRLTDKEKSS
  ICYLSFPDSHSGCLGDTQFSFRMRQCGGQRSPWHADDRHYNSRAPVALQREPAHYFGYVYFRQVKDSSVKRGYFQ
  KSLVLVSRLPFVRLFQALLSLIAPEYFDKLAPCLEAVCSEIDQWPAPAPGQTLNLPVMGVVVQVRIPSRVDKSES
  SPPKQFDQENLLPAPVVLASVHELDLFRCFRPVLTHMQTLWELMLLGEPLLVLAPSPDVSSEMVLALTSCLQPLR
  FCCDFRPYFTIHDSEFKEFTTRTQAPPNVVLGVTNPFFIKTLQHWPHILRVGEPKMSGDLPKQVKLKKPSRLKTL
  DTKPGLYTAYTAHLHRDKALLKRLLKGVQKKRPSDVQSALLRRHLLELTQSFIIPLEHYMASLMPLQKSITPWKT
  PPQIQPFSQDDFLRSLEHAGPQLTCILKGDWLGLYRRFFKSPHFDGWYRQRHKEMALKLEALHLEAICEANIETW
  MKDKSEVEVVDLVLKLREKLVRAQGHQLPVKEATLQRAQLYIETVIGSLPKDLQAVLCPP

• Structural information:
  • Protein Domains: (43..21-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (246..37-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (375..49-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304"-)
  • Interpro: IPR018307  IPR024224  IPR037516  
  • Prosite: PS50211
  • STRING: ENSP00000391524
• Other Databases: GeneCards:  DENND6B  Malacards:  DENND6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0055037	recycling endosome	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0055037	recycling endosome	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq