Gene table of PRDM5 : PR/SET domain 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PRDM5	OMIM link	Number of associated genes	genes
180500	AXENFELD-RIEGER SYNDROME, TYPE 1	ClinVar	link to OMIM	2	PRDM5, PITX2
PS229200	BRITTLE CORNEA SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	PRDM5, ZNF469

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Annotation of the gene PRDM5

Associated genes in ENSEMBL

ENSG00000138738

Associated proteins - SwissProt Accession ID

Q9NQX1

Associated PDB IDs

Cytogenetic Band

4q27

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
methyltransferase activity	GO:0008168	4.35
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001078	5.08
heterocyclic compound binding	GO:1901363	1.06
repressing transcription factor binding	GO:0070491	5.71
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
cation binding	GO:0043169	1.4
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
catalytic activity	GO:0003824	1.05
transcription regulatory region DNA binding	GO:0044212	3.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001227	4.61
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
binding	GO:0005488	0.18