Aliases for ANO4 Gene

Aliases for ANO4 Gene

  • Anoctamin 4 2 3 5
  • Transmembrane Protein 16D 2 3 4
  • Anoctamin-4 3 4
  • TMEM16D 3 4

External Ids for ANO4 Gene

Previous HGNC Symbols for ANO4 Gene

  • TMEM16D

Previous GeneCards Identifiers for ANO4 Gene

  • GC12P099712
  • GC12P101188
  • GC12P098249
  • GC12P101111

Summaries for ANO4 Gene

GeneCards Summary for ANO4 Gene

ANO4 (Anoctamin 4) is a Protein Coding gene. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include intracellular calcium activated chloride channel activity and phospholipid scramblase activity. An important paralog of this gene is ANO3.

UniProtKB/Swiss-Prot Summary for ANO4 Gene

  • Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity).

Additional gene information for ANO4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANO4 Gene

Genomics for ANO4 Gene

GeneHancer (GH) Regulatory Elements for ANO4 Gene

Promoters and enhancers for ANO4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J100718 Promoter/Enhancer 0.9 Ensembl ENCODE 532.6 +0.3 318 2.4 ZNF10 ZIC2 ZBTB26 HDAC2 EZH2 SP2 JUND GATA2 RNF2 KLF16 ANO4 piR-38351-111
GH12J100716 Enhancer 0.4 ENCODE 500.7 -1.3 -1325 0.2 CTCF RAD21 EZH2 KDM1A ANO4 piR-33614-065
GH12J100705 Enhancer 0.7 Ensembl ENCODE 5.3 -11.2 -11175 2 EP300 FOS TRIM28 RFX1 MXI1 MAFK JUND BHLHE40 ZBTB20 USF2 ANO4 piR-33614-065 HSALNG0093461
GH12J100719 Enhancer 0.3 Ensembl 9.6 +2.7 2725 0.4 ZNF623 ANO4 piR-38351-111
GH12J100722 Enhancer 0.3 Ensembl 7.3 +4.4 4437 1.8 POLR2A SMARCA4 ANO4 piR-38351-111
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANO4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANO4

Top Transcription factor binding sites by QIAGEN in the ANO4 gene promoter:
  • Hlf
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • TBP

Genomic Locations for ANO4 Gene

Genomic Locations for ANO4 Gene
chr12:100,717,463-101,128,641
(GRCh38/hg38)
Size:
411,179 bases
Orientation:
Plus strand
chr12:101,111,304-101,522,419
(GRCh37/hg19)
Size:
411,116 bases
Orientation:
Plus strand

Genomic View for ANO4 Gene

Genes around ANO4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO4 Gene

Proteins for ANO4 Gene

  • Protein details for ANO4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32M45-ANO4_HUMAN
    Recommended name:
    Anoctamin-4
    Protein Accession:
    Q32M45
    Secondary Accessions:
    • Q8NAJ0
    • Q8NB39
    • Q8NB53

    Protein attributes for ANO4 Gene

    Size:
    955 amino acids
    Molecular mass:
    111462 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.
    SequenceCaution:
    • Sequence=BAC03688.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANO4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANO4 Gene

Post-translational modifications for ANO4 Gene

  • Glycosylation at Asn83, Asn105, Asn257, and Asn288
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANO4 Gene

Domains & Families for ANO4 Gene

Gene Families for ANO4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ANO4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO4 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 16D (ANO4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q32M45

UniProtKB/Swiss-Prot:

ANO4_HUMAN :
  • Belongs to the anoctamin family.
Family:
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO4: view

Function for ANO4 Gene

Molecular function for ANO4 Gene

UniProtKB/Swiss-Prot Function:
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = 1,2-diacyl-sn-glycero-3-phospho-L-serine(out); Xref=Rhea:RHEA:38663, ChEBI:CHEBI:57262; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38664; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine(out) = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine(in); Xref=Rhea:RHEA:38899, ChEBI:CHEBI:18390; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38900; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:38573; Evidence=. ;.

Phenotypes From GWAS Catalog for ANO4 Gene

Gene Ontology (GO) - Molecular Function for ANO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity IDA 22946059
GO:0017128 phospholipid scramblase activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ANO4: view
genes like me logo Genes that share phenotypes with ANO4: view

Animal Model Products

CRISPR Products

miRNA for ANO4 Gene

miRTarBase miRNAs that target ANO4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANO4 Gene

Localization for ANO4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO4 Gene

Cell membrane; Multi-pass membrane protein. Note=Shows an intracellular localization. {ECO:0000250 UniProtKB:Q8C5H1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANO4 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ANO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ANO4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANO4 Gene

Pathways & Interactions for ANO4 Gene

genes like me logo Genes that share pathways with ANO4: view

Pathways by source for ANO4 Gene

Interacting Proteins for ANO4 Gene

;

Gene Ontology (GO) - Biological Process for ANO4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IDA 22946059
GO:0006869 lipid transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0061588 calcium activated phospholipid scrambling IEA --
GO:0061589 calcium activated phosphatidylserine scrambling IEA --
genes like me logo Genes that share ontologies with ANO4: view

No data available for SIGNOR curated interactions for ANO4 Gene

Drugs & Compounds for ANO4 Gene

(2) Drugs for ANO4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Chloride ion Experimental Pharma 0
genes like me logo Genes that share compounds with ANO4: view

Transcripts for ANO4 Gene

mRNA/cDNA for ANO4 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO4

Alternative Splicing Database (ASD) splice patterns (SP) for ANO4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - -
SP2: -
SP3: -
SP4:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ANO4 Gene

GeneLoc Exon Structure for
ANO4

Expression for ANO4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANO4 Gene

mRNA differential expression in normal tissues according to GTEx for ANO4 Gene

This gene is overexpressed in Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for ANO4 Gene

This gene is overexpressed in Cardia (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANO4 Gene



Protein tissue co-expression partners for ANO4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANO4

SOURCE GeneReport for Unigene cluster for ANO4 Gene:

Hs.58785

Evidence on tissue expression from TISSUES for ANO4 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ANO4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO4 Gene

Orthologs for ANO4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANO4 31 30
  • 99.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANO4 31 30
  • 95.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANO4 31 30
  • 94.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ano4 17 31 30
  • 92.08 (n)
rat
(Rattus norvegicus)
Mammalia Ano4 30
  • 91.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANO4 31
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANO4 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANO4 31 30
  • 86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO4 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano4 30
  • 79.06 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9960 30
fruit fly
(Drosophila melanogaster)
Insecta CG6938 31
  • 30 (a)
OneToMany
Species where no ortholog for ANO4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ANO4 Gene

ENSEMBL:
Gene Tree for ANO4 (if available)
TreeFam:
Gene Tree for ANO4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANO4: view image

Paralogs for ANO4 Gene

Paralogs for ANO4 Gene

(7) SIMAP similar genes for ANO4 Gene using alignment to 4 proteins:

  • ANO4_HUMAN
  • F5H834_HUMAN
  • F8VUH1_HUMAN
  • F8VW62_HUMAN
genes like me logo Genes that share paralogs with ANO4: view

Variants for ANO4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANO4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
715963 Benign: not provided 101,120,541(+) G/A SYNONYMOUS_VARIANT
778657 Likely Benign: not provided 101,042,440(+) G/A MISSENSE_VARIANT
rs34162417 - p.Gly115Ala

Additional dbSNP identifiers (rs#s) for ANO4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANO4 Gene

Variant ID Type Subtype PubMed ID
dgv510e212 CNV loss 25503493
esv2586099 CNV deletion 19546169
esv2666281 CNV deletion 23128226
esv2673176 CNV deletion 23128226
esv27167 CNV loss 19812545
esv2763001 CNV loss 21179565
esv3630559 CNV loss 21293372
esv3630560 CNV gain 21293372
esv3630561 CNV loss 21293372
esv3630562 CNV loss 21293372
esv3630564 CNV loss 21293372
esv3630565 CNV loss 21293372
nsv1042478 CNV loss 25217958
nsv472341 CNV novel sequence insertion 20440878
nsv518877 CNV loss 19592680
nsv560005 CNV loss 21841781
nsv853 CNV deletion 18451855
nsv856 CNV insertion 18451855
nsv983358 CNV duplication 23825009

Variation tolerance for ANO4 Gene

Residual Variation Intolerance Score: 5.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.30; 76.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANO4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANO4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO4 Gene

Disorders for ANO4 Gene

Additional Disease Information for ANO4

No disorders were found for ANO4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANO4 Gene

Publications for ANO4 Gene

  1. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. (PMID: 12739008) Katoh M … Katoh M (International journal of oncology 2003) 2 3 4 54
  2. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N … Galietta LJ (Physiological reviews 2014) 2 3 54
  3. Anoctamins are a family of Ca2+-activated Cl- channels. (PMID: 22946059) Tian Y … Kunzelmann K (Journal of cell science 2012) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PMID: 15067359) Katoh M … Katoh M (International journal of oncology 2004) 2 3 54

Products for ANO4 Gene

Sources for ANO4 Gene