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ANO8 anoctamin 8 [ Homo sapiens (human) ]

Gene ID: 57719, updated on 23-Nov-2021

Summary

Official Symbol
ANO8provided by HGNC
Official Full Name
anoctamin 8provided by HGNC
Primary source
HGNC:HGNC:29329
See related
Ensembl:ENSG00000074855 MIM:610216
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
TMEM16H; KIAA1623
Expression
Ubiquitous expression in brain (RPKM 8.2), skin (RPKM 5.5) and 25 other tissues See more
Orthologs
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Genomic context

See ANO8 in Genome Data Viewer
Location:
19p13.11
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17323223..17334855, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17434032..17445664, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and LEM domain containing 1 Neighboring gene abhydrolase domain containing 8 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene DET1 and DDB1 associated 1 Neighboring gene GTP binding protein 3, mitochondrial Neighboring gene plasmalemma vesicle associated protein

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anoctamin-8
Names
transmembrane protein 16H

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)

  1. NM_020959.3NP_066010.1  anoctamin-8

    See identical proteins and their annotated locations for NP_066010.1

    Status: VALIDATED

    Source sequence(s)
    AB046843, AC010463, AI860149
    Consensus CDS
    CCDS32949.1
    UniProtKB/Swiss-Prot
    Q9HCE9
    Related
    ENSP00000159087.4, ENST00000159087.7
    Conserved Domains (2) summary
    PHA03307
    Location:9401120
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam04547
    Location:237877
    Anoctamin; Calcium-activated chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17323223..17334855 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027048.1XP_016882537.1  anoctamin-8 isoform X1

    UniProtKB/Swiss-Prot
    Q9HCE9

RNA

  1. XR_936199.3 RNA Sequence

  2. XR_001753729.1 RNA Sequence

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