Reviewed,
UniProtKB/Swiss-Prot Q9NQ90 (ANO2_HUMAN)
Last modified
November 24, 2009.
Version 57.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Anoctamin-2 Alternative name(s): Transmembrane protein 16B | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1003 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Acts as a calcium-activated chloride channel (CaCC), mostly in photoreceptors. May mediate olfactory amplification in olfactory sensory neurons (OSNs) and light perception amplification in retina By similarity. |
| Subunit structure | Component of a presynaptic protein complex recruited to specialized plasma membrane domains of photoreceptors. Interacts with DLG4 by its C-terminus region By similarity. |
| Subcellular location | Cell membrane; Multi-pass membrane protein By similarity. |
| Tissue specificity | Retina, especially in the photoreceptor synaptic terminals. Ref.2 |
| Post-translational modification | Glycosylated By similarity. |
| Sequence similarities | Belongs to the anoctamin family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane |
| Ligand | Calcium Chloride |
| Molecular function | Chloride channel Ionic channel |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | ion transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from sequence or structural similarity. Source: UniProtKB |
| Molecular function | calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW chloride ion bindingInferred from electronic annotation. Source: UniProtKB-KW intracellular calcium activated chloride channel activityInferred from direct assay. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NQ90-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9NQ90-2) The sequence of this isoform differs from the canonical sequence as follows: 5-7: GPR → MPE | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1003 | 1003 | Anoctamin-2 | PRO_0000072564 | |||||
Regions | |||||||||
| Topological domain | 1 – 365 | 365 | Cytoplasmic Potential | ||||||
| Transmembrane | 366 – 386 | 21 | Potential | ||||||
| Topological domain | 387 – 434 | 48 | Extracellular Potential | ||||||
| Transmembrane | 435 – 455 | 21 | Potential | ||||||
| Topological domain | 456 – 538 | 83 | Cytoplasmic Potential | ||||||
| Transmembrane | 539 – 559 | 21 | Potential | ||||||
| Topological domain | 560 – 582 | 23 | Extracellular Potential | ||||||
| Transmembrane | 583 – 603 | 21 | Potential | ||||||
| Topological domain | 604 – 623 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 624 – 644 | 21 | Potential | ||||||
| Topological domain | 645 – 748 | 104 | Extracellular Potential | ||||||
| Transmembrane | 749 – 769 | 21 | Potential | ||||||
| Topological domain | 770 – 801 | 32 | Cytoplasmic Potential | ||||||
| Transmembrane | 802 – 822 | 21 | Potential | ||||||
| Topological domain | 823 – 907 | 85 | Extracellular Potential | ||||||
| Transmembrane | 908 – 928 | 21 | Potential | ||||||
| Topological domain | 929 – 1003 | 75 | Cytoplasmic Potential | ||||||
| Motif | 1001 – 1003 | 3 | DLG4 binding (PDZ) | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 422 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 841 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 849 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 856 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 5 – 7 | 3 | GPR → MPE in isoform 2. | VSP_038352 | |||||
| Natural variant | 112 | 1 | V → A: dbSNP rs3741903. | VAR_021932 | |||||
| Natural variant | 147 | 1 | P → S: dbSNP rs3741901. | VAR_057286 | |||||
| Natural variant | 505 | 1 | S → A: dbSNP rs1860961. | VAR_020331 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Transcripts in 12p13.3." Lorenz B., White K.E., Econs M.J., Strom T.M. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Retina. |
| [2] | "TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals." Stoehr H., Heisig J.B., Benz P.M., Schoeberl S., Milenkovic V.M., Strauss O., Aartsen W.M., Wijnholds J., Weber B.H.F., Schulz H.L. J. Neurosci. 29:6809-6818(2009) [PubMed: 19474308] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, GLYCOSYLATION, SUBUNIT, TISSUE SPECIFICITY. Tissue: Retina. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 556-999 (ISOFORMS 1 AND 2). Tissue: Retinoblastoma. |
| [4] | "TMEM16A confers receptor-activated calcium-dependent chloride conductance." Yang Y.D., Cho H., Koo J.Y., Tak M.H., Cho Y., Shim W.-S., Park S.P., Lee J., Lee B., Kim B.-M., Raouf R., Shin Y.K., Oh U. Nature 455:1210-1215(2008) [PubMed: 18724360] [Abstract] Cited for: IDENTIFICATION AS PUTATIVE CHLORIDE CHANNEL. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AJ272204 mRNA. Translation: CAC01125.1. FJ384095 mRNA. Translation: ACL36050.1. AK024010 mRNA. Translation: BAB14773.1. Different initiation. | |
| IPI | IPI00479837. |
| RefSeq | NP_065106.2. |
| UniGene | Hs.148970 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9NQ90. |
PTM databases | |
| PhosphoSite | Q9NQ90. |
Genome annotation databases | |
| Ensembl | ENST00000356134; ENSP00000348453; ENSG00000047617; Homo sapiens. [Genome view] |
| GeneID | 57101. |
| KEGG | hsa:57101. |
Organism-specific databases | |
| CTD | 57101. |
| GeneCards | GC12M005543. |
| HGNC | HGNC:1183. ANO2. |
| MIM | 610109. gene. |
| PharmGKB | PA25504. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9NQ90. |
| HOVERGEN | Q9NQ90. |
| OMA | DEDKLTW |
Enzyme and pathway databases | |
| BioCyc | CATTLE:ENSBTAG00000012246-MON. |
Gene expression databases | |
| ArrayExpress | Q9NQ90. |
| Bgee | Q9NQ90. |
| CleanEx | HS_ANO2. |
| Genevestigator | Q9NQ90. |
| GermOnline | ENSG00000047617. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007632. DUF590. [Graphical view] |
| PANTHER | PTHR12308. DUF590. 1 hit. |
| Pfam | PF04547. DUF590. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 62929. |
| SOURCE | Search... |
Entry information
| Entry name | ANO2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NQ90 Secondary accession number(s): C4N787, Q9H847 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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