• Gene id: 79641

Gene Summary

• Gene Symbol: ROGDI   Gene   UCSC   Ensembl
• Aliases: KTZS
• Gene name: rogdi atypical leucine zipper
• Alternate names: protein rogdi homolog, leucine zipper domain protein, rogdi homolog,
• Gene location: 16p13.3 (4802949: 4796961)     Exons: 11     NC_000016.10
• Gene summary(Entrez): This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
• OMIM: 602662

Protein Summary

• Protein general information: Q9GZN7  
  • Name: Protein rogdi homolog
  • Length: 287  
  • Mass: 32254
  • Tissue specificity: Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver. {ECO
• Sequence:

  MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLRFTLPGSGTEGPAKQENFILGSCGTDQVKGVL
  TLQGDALSQADVNLKMPRNNQLLHFAFREDKQWKLQQIQDARNHVSQAIYLLTSRDQSYQFKTGAEVLKLMDAVM
  LQLTRARNRLTTPATLTLPEIAASGLTRMFAPALPSDLLVNVYINLNKLCLTVYQLHALQPNSTKNFRPAGGAVL
  HSPGAMFEWGSQRLEVSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKISVFSSYWSYRPF

• Structural information:
  • Interpro: IPR028241  
  • PDB: 5XQH 5XQI
  • PDBsum: 5XQH 5XQI
  • STRING: ENSP00000322832
• Other Databases: GeneCards:  ROGDI  Malacards:  ROGDI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007035	vacuolar acidification	IBA	biological process
GO:0032502	developmental process	IBA	biological process
GO:0043291	RAVE complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0022008	neurogenesis	IMP	biological process
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0007035	vacuolar acidification	IBA	biological process
GO:0032502	developmental process	IBA	biological process
GO:0043291	RAVE complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0022008	neurogenesis	IMP	biological process
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component

Diseases

Associated diseases	References
Kohlschutter-Tonz syndrome	KEGG:H02058
Kohlschutter-Tonz syndrome	KEGG:H02058
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

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