• Gene id: 57822

Gene Summary

• Gene Symbol: GRHL3   Gene   UCSC   Ensembl
• Aliases: SOM, TFCP2L4, VWS2
• Gene name: grainyhead like transcription factor 3
• Alternate names: grainyhead-like protein 3 homolog, sister of mammalian grainyhead, transcription factor CP2-like 4, transcription factor hSOM1,
• Gene location: 1p36.11 (24319332: 24364481)     Exons: 19     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encod
• OMIM: 601598

Protein Summary

• Protein general information: Q8TE85  
  • Name: Grainyhead like protein 3 homolog (Sister of mammalian grainyhead) (Transcription factor CP2 like 4)
  • Length: 626  
  • Mass: 70345
  • Tissue specificity: Expressed in brain, colon, pancreas, placenta and kidney. Isoform 1 is expressed in lung and tonsil. Isoform 2 is prostate-specific. {ECO
• Sequence:

  MSNELDFRSVRLLKNDPVNLQKFSYTSEDEAWKTYLENPLTAATKAMMRVNGDDDSVAALSFLYDYYMGPKEKRI
  LSSSTGGRNDQGKRYYHGMEYETDLTPLESPTHLMKFLTENVSGTPEYPDLLKKNNLMSLEGALPTPGKAAPLPA
  GPSKLEAGSVDSYLLPTTDMYDNGSLNSLFESIHGVPPTQRWQPDSTFKDDPQESMLFPDILKTSPEPPCPEDYP
  SLKSDFEYTLGSPKAIHIKSGESPMAYLNKGQFYPVTLRTPAGGKGLALSSNKVKSVVMVVFDNEKVPVEQLRFW
  KHWHSRQPTAKQRVIDVADCKENFNTVEHIEEVAYNALSFVWNVNEEAKVFIGVNCLSTDFSSQKGVKGVPLNLQ
  IDTYDCGLGTERLVHRAVCQIKIFCDKGAERKMRDDERKQFRRKVKCPDSSNSGVKGCLLSGFRGNETTYLRPET
  DLETPPVLFIPNVHFSSLQRSGGAAPSAGPSSSNRLPLKRTCSPFTEEFEPLPSKQAKEGDLQRVLLYVRRETEE
  VFDALMLKTPDLKGLRNAISEKYGFPEENIYKVYKKCKRGETSLLHPRLSRHPPPDCLECSHPVTQVRNMGFGDG
  FWRQRDLDSNPSPTTVNSLHFTVNSE

• Structural information:
  • Interpro: IPR007604  IPR040167  
  • STRING: ENSP00000288955
• Other Databases: GeneCards:  GRHL3  Malacards:  GRHL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0008544	epidermis development	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0001736	establishment of planar polarity	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0061029	eyelid development in camera-type eye	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042060	wound healing	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Van der Woude syndrome	KEGG:H01927
Van der Woude syndrome	KEGG:H01927
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R