KCNIP4 (potassium voltage-gated channel interacting protein 4)

Gene

• Entrez ID: 80333
• Gene name: Potassium voltage-gated channel interacting protein 4
• Gene symbol: KCNIP4
• Synonyms (NCBI Gene): CALP, KCHIP4
• Chromosome: 4
• Chromosome location: 4p15.31-p15.2
• Summary: This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1081167	hsa-miR-4477a	CLIP-seq
MIRT1081168	hsa-miR-4503	CLIP-seq
MIRT1081169	hsa-miR-4668-3p	CLIP-seq
MIRT1081170	hsa-miR-4698	CLIP-seq
MIRT1081171	hsa-miR-548aa	CLIP-seq
MIRT2452199	hsa-miR-1283	CLIP-seq
MIRT2452200	hsa-miR-3145-3p	CLIP-seq
MIRT2452201	hsa-miR-338-5p	CLIP-seq
MIRT2452202	hsa-miR-3689a-5p	CLIP-seq
MIRT2452203	hsa-miR-3689b	CLIP-seq
MIRT2452204	hsa-miR-3689e	CLIP-seq
MIRT2452205	hsa-miR-3689f	CLIP-seq
MIRT2452206	hsa-miR-4666-3p	CLIP-seq
MIRT2452207	hsa-miR-548c-3p	CLIP-seq
MIRT2452208	hsa-miR-570	CLIP-seq
MIRT2452209	hsa-miR-758	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005267	Function	Potassium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	11847232
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	26871637, 32296183
GO:0005737	Component	Cytoplasm	IDA	11847232
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	22057399
GO:0005777	Component	Peroxisome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA	11847232
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0015459	Function	Potassium channel regulator activity	IEA
GO:0015459	Function	Potassium channel regulator activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IBA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IEA
GO:1901379	Process	Regulation of potassium ion transmembrane transport	ISS

Other IDs

• MIM: 608182
• HGNC: 30083
• e!Ensembl: ENSG00000185774

Protein

• UniProt ID: Q6PIL6
• Protein name: Kv channel-interacting protein 4 (KChIP4) (A-type potassium channel modulatory protein 4) (Calsenilin-like protein) (Potassium channel-interacting protein 4)
• Protein function: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manne
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13833	EF-hand_8	99 → 152	EF-hand domain pair	Domain
  PF13499	EF-hand_7	158 → 234	EF-hand domain pair	Domain
  PF13202	EF-hand_5	209 → 233	EF hand	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in brain. {ECO:0000269|PubMed:11847232}.
• Sequence:

  MNVRRVESISAQLEEASSTGGFLYAQNSTKRSIKERLMKLLPCSAAKTSSPAIQNSVEDE
  LEMATVRHRPEALELLEAQSKFTKKELQILYRGFKNECPSGVVNEETFKEIYSQFFPQGD
  STTYAHFLFNAFDTDHNGAVSFEDFIKGLSILLRGTVQEKLNWAFNLYDINKDGYITKEE
  MLDIMKAIYDMMGKCTYPVLKEDAPRQHVETFFQKMDKNKDGVVTIDEFIESCQKDENIM
  RSMQLFENVI

• Sequence length: 250

Pathways

Reactome:

Phase 1 - inactivation of fast Na+ channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNIP4-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21624954, 40631452	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	28575239	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23457522		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22981920		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	11358814		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	26169577	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	36421848	Associate	★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	29215541		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31792968		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25644374	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11358814		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24419231	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	25663231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Personality Disorders	Personality Disorders	BEFREE	22981920		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17981209		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17981209		★☆☆☆☆ Found in Text Mining only