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MGP001713

UniProt Annotations

Entry Information

Gene Name	potassium channel, voltage gated Shal related subfamily D, member 2
Protein Entry	KCND2_HUMAN
UniProt ID	Q9NZV8
Species	Human

Comments

Comment type	Description
Disease	Note=KNCD2 mutations have been found in a family with autism and epilepsy and may play a role in disease pathogenesis. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Epilepsy is characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO:0000269\|PubMed:24501278}.
Domain	The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Function	Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. {ECO:0000269\|PubMed:10551270, ECO:0000269\|PubMed:10729221}.
Interaction	Q9NZI2:KCNIP1; NbExp=4; IntAct=EBI-1646745, EBI-2120635; Q9NS61:KCNIP2; NbExp=3; IntAct=EBI-1646745, EBI-1052975; Q9NS61-3:KCNIP2; NbExp=3; IntAct=EBI-1646745, EBI-1053010;
Ptm	Phosphorylated on serine and threonine residues. {ECO:0000250}.
Sequence Caution	Sequence=BAA82996.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.2/KCND2 sub-subfamily. {ECO:0000305}.
Subcellular Location	Cell membrane {ECO:0000269\|PubMed:11102480}; Multi-pass membrane protein {ECO:0000269\|PubMed:11102480}. Cell projection, dendrite {ECO:0000269\|PubMed:11102480}. Note=Detected in dendrites in cultured hippocampal neurons. Association with KCNIP2 probably enhances cell surface expression.
Subunit	Homotetramer or heterotetramer with KCND1 and/or KCND3. Interacts with DPP6, DLG4 and NCS1/FREQ (By similarity). Interacts with DLG1. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. The KCND2-KCNIP2 channel complex contains four KCND2 and four KCNIP2 subunits. Interacts with FLNA, FLNC and DPP10. {ECO:0000250, ECO:0000269\|PubMed:10676964, ECO:0000269\|PubMed:11102480, ECO:0000269\|PubMed:11287421, ECO:0000269\|PubMed:11847232, ECO:0000269\|PubMed:12451113, ECO:0000269\|PubMed:14980207, ECO:0000269\|PubMed:15358149, ECO:0000269\|PubMed:15454437, ECO:0000269\|PubMed:19213956}.
Tissue Specificity	Highly expressed throughout the brain. Expression is very low or absent in other tissues. {ECO:0000269\|PubMed:10551270, ECO:0000269\|PubMed:10729221}.