• Gene id: 79961

Gene Summary

• Gene Symbol: DENND2D   Gene   UCSC   Ensembl
• Gene name: DENN domain containing 2D
• Alternate names: DENN domain-containing protein 2D, DENN/MADD domain containing 2D, RP5-1180E21.2,
• Gene location: 1p13.3-p13.2 (203325012: 203432168)     Exons: 20     NC_000002.12
• OMIM: 615111

Protein Summary

• Protein general information: Q9H6A0  
  • Name: DENN domain containing protein 2D
  • Length: 471  
  • Mass: 53672
  • Tissue specificity: In bronchial mucosa, mainly expressed in ciliated and basal epithelial cells and weakly in alveolar cells (at protein level). Tends to be down-regulated in lung cancers, immortalized bronchial epithelial cell lines and precancerous les
• Sequence:

  MEGQVVGRVFRLFQRRLLQLRAGPPQDNSGEALKEPERAQEHSLPNFAGGQHFFEYLLVVSLKKKRSEDDYEPII
  TYQFPKRENLLRGQQEEEERLLKAIPLFCFPDGNEWASLTEYPRETFSFVLTNVDGSRKIGYCRRLLPAGPGPRL
  PKVYCIISCIGCFGLFSKILDEVEKRHQISMAVIYPFMQGLREAAFPAPGKTVTLKSFIPDSGTEFISLTRPLDS
  HLEHVDFSSLLHCLSFEQILQIFASAVLERKIIFLAEGLSTLSQCIHAAAALLYPFSWAHTYIPVVPESLLATVC
  CPTPFMVGVQMRFQQEVMDSPMEEVLLVNLCEGTFLMSVGDEKDILPPKLQDDILDSLGQGINELKTAEQINEHV
  SGPFVQFFVKIVGHYASYIKREANGQGHFQERSFCKALTSKTNRRFVKKFVKTQLFSLFIQEAEKSKNPPAGYFQ
  QKILEYEEQKKQKKPREKTVK

• Structural information:
  • Protein Domains: (55..20-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (226..35-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (361..44-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304"-)
  • Interpro: IPR001194  IPR005112  IPR037516  IPR005113  
  • Prosite: PS50211
  • STRING: ENSP00000350266
• Other Databases: GeneCards:  DENND2D  Malacards:  DENND2D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
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