Gene

ano3

ID

ZDB-GENE-111031-3

Name

anoctamin 3

Symbol

ano3 Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Description

Predicted to enable protein dimerization activity. Predicted to be located in plasma membrane. Is expressed in head. Human ortholog(s) of this gene implicated in dystonia 24. Orthologous to human ANO3 (anoctamin 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Zech et al., 2015

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa44351	Allele with one point mutation	Unknown	Unknown	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)

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Sequence Targeting Reagents

No data available

Human Disease

Associated With ano3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
dystonia 24	Alliance	Dystonia 24	615034

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Associated With ano3 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR032394	Anoctamin, dimerisation domain
Domain	IPR049452	Anoctamin, transmembrane domain
Family	IPR007632	Anoctamin

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Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0AB32TCV5	InterPro	989
UniProtKB:A0AB32TJJ5	InterPro	1018
UniProtKB:A0AB32TJQ4	InterPro	998
UniProtKB:A0AB32TLC9	InterPro	1027

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 25

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	ano3-201 (1) Ensembl	Ensembl		5,648 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH73-147O17	CU929090	ZFIN Curated Data
Contained in	BAC	CH211-87J1	FP102071	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_068217575 (1)	5734 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:FP102071 (1)	170462 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0AB32TLC9 (1)	1027 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	ANO3	11	Ensembl:ENSG00000134343 Gene:63982 HGNC:14004 OMIM:610110	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)
Mouse	Ano3	2	Ensembl:ENSMUSG00000074968 Gene:228432 MGI:3613666	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)

Citations

Include unpublished citations

Zech, M., Lam, D.D., Francescatto, L., Schormair, B., Salminen, A.V., Jochim, A., Wieland, T., Lichtner, P., Peters, A., Gieger, C., Lochmüller, H., Strom, T.M., Haslinger, B., Katsanis, N., Winkelmann, J. (2015) Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia. American journal of human genetics. 96(6):883-93

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