ZACN (zinc activated ion channel)

Gene

• Entrez ID: 353174
• Gene name: Zinc activated ion channel
• Gene symbol: ZACN
• Synonyms (NCBI Gene): L2, LGICZ, LGICZ1, ZAC, ZAC1
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2463737	hsa-miR-1266	CLIP-seq
MIRT2463738	hsa-miR-1270	CLIP-seq
MIRT2463739	hsa-miR-1273f	CLIP-seq
MIRT2463740	hsa-miR-1291	CLIP-seq
MIRT2463741	hsa-miR-146b-3p	CLIP-seq
MIRT2463742	hsa-miR-147	CLIP-seq
MIRT2463743	hsa-miR-1538	CLIP-seq
MIRT2463744	hsa-miR-218	CLIP-seq
MIRT2463745	hsa-miR-339-5p	CLIP-seq
MIRT2463746	hsa-miR-361-3p	CLIP-seq
MIRT2463747	hsa-miR-3670	CLIP-seq
MIRT2463748	hsa-miR-4419a	CLIP-seq
MIRT2463749	hsa-miR-4510	CLIP-seq
MIRT2463750	hsa-miR-4518	CLIP-seq
MIRT2463751	hsa-miR-4683	CLIP-seq
MIRT2463752	hsa-miR-4707-3p	CLIP-seq
MIRT2463753	hsa-miR-4745-3p	CLIP-seq
MIRT2463754	hsa-miR-520a-5p	CLIP-seq
MIRT2463755	hsa-miR-525-5p	CLIP-seq
MIRT2463756	hsa-miR-581	CLIP-seq
MIRT2463757	hsa-miR-620	CLIP-seq
MIRT2463758	hsa-miR-621	CLIP-seq
MIRT2463759	hsa-miR-629	CLIP-seq
MIRT2463760	hsa-miR-636	CLIP-seq
MIRT2463761	hsa-miR-658	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16083862, 26872532
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0008270	Function	Zinc ion binding	IDA	12381728
GO:0010043	Process	Response to zinc ion	IDA	12381728
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IDA	12381728
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IDA	12381728
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0099094	Function	Ligand-gated monoatomic cation channel activity	IDA	26872532
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	26872532
GO:1902495	Component	Transmembrane transporter complex	IBA

Other IDs

• MIM: 610935
• HGNC: 29504
• e!Ensembl: ENSG00000186919

Protein

• UniProt ID: Q401N2
• Protein name: Ligand-gated cation channel ZACN (Ligand-gated ion channel zinc-activated 1) (Ligand-gated ion-channel receptor L2) (Zinc-activated channel)
• Protein function: Ligand-gated cation channel that allows the movement of sodium and potassium monoatomic cations across cell membranes when activated by zinc (Zn2+), copper (Cu2+), and changes in pH (PubMed:26872532). Could also transport cesium (PubMed:26872532
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	40 → 216	Neurotransmitter-gated ion-channel ligand binding domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in pancreas, brain, liver, placenta, trachea, kidney, spinal cord, stomach and fetal brain. In the adult brain region expression is detected in the hippocampus, striatum, amygdala and thalamus. {ECO:0000269|PubMed:12381728, EC
• Sequence:

  MMALWSLLHLTFLGFSITLLLVHGQGFQGTAAIWPSLFNVNLSKKVQESIQIPNNGSAPL
  LVDVRVFVSNVFNVDILRYTMSSMLLLRLSWLDTRLAWNTSAHPRHAITLPWESLWTPRL
  TILEALWVDWRDQSPQARVDQDGHVKLNLALATETNCNFELLHFPRDHSNCSLSFYALSN
  TAMELEFQAHVVNEIVSVKREYVVYDLKTQVPPQQLVPCFQVTLRLKNTALKSIIALLVP
  AEALLLADVCGGLLPLRAIERIGYKVTLLLSYLVLHSSLVQALPSSSSCNPLLIYYFTIL
  LLLLFLSTIETVLLAGLLARGNLGAKSGPSPAPRGEQREHGNPGPHPAEEPSRGVKGSQR
  SWPETADRIFFLVYVVGVLCTQFVFAGIWMWAACKSDAAPGEAAPHGRRPRL

• Sequence length: 412

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
Neurodevelopmental disorder with seizures and brain atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	23847328		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	16733217, 21872827		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	20175198		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	15888726		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10435621		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16179495		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26134521		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	20518900		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30197757		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	19155788, 24316753		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24316753		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24316753		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16012265		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	BEFREE	10655556, 11297535, 12119104, 15286800, 22547676		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20175198		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17395140		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	28835453		★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	21872827		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	12471198		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	12471198		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	22547676		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10435621		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11156367, 12473647		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10435621, 11297535		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	12119104		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10435621, 11313869, 11888928, 12473647, 15751035, 15888726, 16179495, 17805016, 20518900, 23270713, 24098585, 30447469		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	21872827		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	20117169		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	19694203		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16179495		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29916534	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28781677		★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	10655556, 11297535, 11448939, 11935319, 15888726, 19155788, 22547676, 24316753		★☆☆☆☆ Found in Text Mining only