Gene table of CC2D1A : coiled-coil and C2 domain containing 1A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CC2D1A	OMIM link	Number of associated genes	genes
PS249500	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	OMIM	link to OMIM	31	ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L

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Annotation of the gene CC2D1A

Associated genes in ENSEMBL

ENSG00000132024

Associated proteins - SwissProt Accession ID

Q6P1N0

Associated PDB IDs

Cytogenetic Band

19p13.12

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
nucleic acid binding	GO:0003676	1.44
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
signal transducer activity	GO:0004871	2.28
DNA binding	GO:0003677	1.92
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001078	5.08
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
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
regulatory region nucleic acid binding	GO:0001067	3.03
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