ZACN zinc activated ion channel [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZACNprovided by HGNC
Official Full Name: zinc activated ion channelprovided by HGNC
Primary source: HGNC:HGNC:29504
See related: Ensembl:ENSG00000186919 MIM:610935; AllianceGenome:HGNC:29504
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: L2; ZAC; ZAC1; LGICZ; LGICZ1
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]
Expression: Ubiquitous expression in prostate (RPKM 23.1), brain (RPKM 20.2) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 17q25.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (76079182..76082806)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76975753..76979376)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (74075263..74078887)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Probing the molecular basis for signal transduction through the Zinc-Activated Channel (ZAC).
Title: Probing the molecular basis for signal transduction through the Zinc-Activated Channel (ZAC).
analysis of ligand-gated ion-channel receptor L2 in central nervous system
Title: Cloning and expression of ligand-gated ion-channel receptor L2 in central nervous system.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:487331

SHGC-36023 (e-PCR)
- UniSTS:42433

EXOC7__7609 (e-PCR)
- UniSTS:467677

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ligand-gated monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables pH-gated monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in response to zinc ion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ligand-gated cation channel ZACN

Names: ligand-gated ion channel subunit; ligand-gated ion channel zinc-activated 1; ligand-gated ion-channel receptor L2; zinc activated ligand-gated ion channel 1; zinc-activated channel; zinc-activated ligand-gated ion channel

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_180990.4 → NP_851321.2 ligand-gated cation channel ZACN precursor

See identical proteins and their annotated locations for NP_851321.2

Status: VALIDATED

Source sequence(s)

AB223030, AC018665, DB119720

Consensus CDS

CCDS11740.2

UniProtKB/Swiss-Prot

Q2TB29, Q401N2, Q6ZWK3, Q86YW4

Related

ENSP00000334854.5, ENST00000334586.10

Conserved Domains (2) summary

TIGR00860
Location:11 → 368

LIC; Cation transporter family protein

pfam02931
Location:54 → 187

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain