Gene table of TPCN2 : two pore segment channel 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TPCN2	OMIM link	Number of associated genes	genes
PS227220	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	ClinVar, OMIM	link to OMIM	12	SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2

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Annotation of the gene TPCN2

Associated genes in ENSEMBL

ENSG00000162341

Associated proteins - SwissProt Accession ID

Q8NHX9

Associated PDB IDs

Cytogenetic Band

11q13.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Pancreatic secretion	hsa04972	6.07

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
ligand-gated ion channel activity	GO:0015276	4.8
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
transmembrane transporter activity	GO:0022857	2.82
voltage-gated cation channel activity	GO:0022843	4.83
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
identical protein binding	GO:0042802	2.63
intracellular ligand-gated ion channel activity	GO:0005217	6.41
inorganic cation transmembrane transporter activity	GO:0022890	3.49
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
substrate-specific transporter activity	GO:0022892	2.72
ligand-gated calcium channel activity	GO:0099604	6.97
substrate-specific transmembrane transporter activity	GO:0022891	2.9
NAADP-sensitive calcium-release channel activity	GO:0072345	8.64
substrate-specific channel activity	GO:0022838	3.67
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
voltage-gated calcium channel activity	GO:0005245	6.0
voltage-gated ion channel activity	GO:0005244	4.49
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32