HUMAN:A8KAQ8

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	HERC2 (ECO:0000313 with EMBL:AAI48319.1)
Protein Name(s)	HERC2 protein (ECO:0000313 with EMBL:AAI48319.1)
External Links
UniProt	A8KAQ8
EMBL	BC148318
RefSeq	NP_004658.3
UniGene	Hs.434890 Hs.610412 Hs.741019
PRIDE	A8KAQ8
GeneID	8924
KEGG	hsa:8924
CTD	8924
KO	K10595
ChiTaRS	HERC2
GenomeRNAi	8924
NextBio	33552
GO	GO:0008270
Gene3D	2.130.10.30 2.30.30.30 2.60.120.260
InterPro	IPR004939 IPR021097 IPR008979 IPR009091 IPR000408 IPR014722 IPR000433
Pfam	PF03256 PF11515 PF00415 PF00569
PRINTS	PR00633
SMART	SM00291
SUPFAM	SSF49785 SSF50985
PROSITE	PS51284 PS00626 PS50012 PS01357 PS50135

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0010628	positive regulation of gene expression	PMID:22234890	ECO:0000314			P		The over-expression of transcription factor HLTF led to an elevated expression of OCA2, which leads to a darker pigmentation (Figure 4B), when bound to the HERC2 region. This is an IDA because the levels of HLTF correlated to a darker pigmentation when bound to HERC2. Therefore, HERC2 positively regulates the expression of the gene for dark pigment.	complete CACAO 9949
	GO:0046158	ocellus pigment metabolic process	PMID:22234890	ECO:0000314			P		The over-expression of the transcription factor MITF in HEMn-LP cells (cells with the C-allele, which have lighter pigmentation)led to increased OCA2 expression, which darkened the pigmentation of the eye (Figure 4-E).	complete CACAO 9952
enables	GO:0008270	zinc ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000433	F		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000038	ECO:0000323	imported automatically asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
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References

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