ANO7

gene
On this page

Also known as NGEPPCANAP5LIPCA-5

Summary

ANO7 (anoctamin 7, HGNC:31677) is a protein-coding gene on chromosome 2q37.3, encoding Anoctamin-7 (Q6IWH7). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide.

This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 50636 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 427 total — 2 pathogenic, 2 likely-pathogenic
  • MANE Select transcript: NM_001370694

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:31677
Approved symbolANO7
Nameanoctamin 7
Location2q37.3
Locus typegene with protein product
StatusApproved
AliasesNGEP, PCANAP5L, IPCA-5
Ensembl geneENSG00000146205
Ensembl biotypeprotein_coding
OMIM605096
Entrez50636

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 5 retained_intron

ENST00000274979, ENST00000402430, ENST00000402530, ENST00000451047, ENST00000459928, ENST00000471606, ENST00000475532, ENST00000481071, ENST00000487192, ENST00000674324, ENST00000880340, ENST00000880341, ENST00000880342

RefSeq mRNA: 2 — MANE Select: NM_001370694 NM_001001666, NM_001370694

CCDS: CCDS33423, CCDS46563

Canonical transcript exons

ENST00000674324 — 25 exons

ExonStartEnd
ENSE00001305115241218239241218381
ENSE00001460033241223662241223781
ENSE00001460034241223186241223276
ENSE00001460036241217686241217891
ENSE00001460037241216093241216238
ENSE00001460038241214805241214902
ENSE00001460039241212572241212626
ENSE00001460040241212094241212205
ENSE00001460041241210468241210570
ENSE00001460042241210295241210393
ENSE00001460043241209498241209635
ENSE00001460044241209285241209428
ENSE00001460045241207574241207670
ENSE00001460046241204865241204955
ENSE00001460048241203333241203498
ENSE00001460049241202194241202304
ENSE00001460050241201298241201355
ENSE00001460051241200089241200225
ENSE00001460052241199316241199423
ENSE00001460053241195703241195845
ENSE00001460054241191194241191251
ENSE00003518153241223905241223955
ENSE00003898163241188677241188766
ENSE00003898463241190057241190171
ENSE00003925683241224097241225976

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 93.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0344 / max 51.2408, expressed in 1397 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
265043.18651304
265030.3495174
265050.2891136
265010.204961
2026430.00441

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
ileal mucosaUBERON:000033193.22silver quality
mucosa of transverse colonUBERON:000499192.76gold quality
prostate glandUBERON:000236788.65gold quality
transverse colonUBERON:000115787.58gold quality
small intestine Peyer’s patchUBERON:000345486.28gold quality
rectumUBERON:000105285.08gold quality
small intestineUBERON:000210883.51gold quality
body of stomachUBERON:000116183.20gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047379.59gold quality
mucosa of stomachUBERON:000119979.54gold quality
stomachUBERON:000094579.14gold quality
epithelial cell of pancreasCL:000008376.70gold quality
intestineUBERON:000016076.55gold quality
colonic epitheliumUBERON:000039776.11gold quality
upper arm skinUBERON:000426375.09gold quality
colonUBERON:000115574.86gold quality
kidney epitheliumUBERON:000481974.79gold quality
large intestineUBERON:000005974.68gold quality
minor salivary glandUBERON:000183073.75gold quality
fundus of stomachUBERON:000116073.29gold quality
endothelial cellCL:000011573.24gold quality
duodenumUBERON:000211472.58gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099172.17gold quality
mouth mucosaUBERON:000372971.38gold quality
stromal cell of endometriumCL:000225570.92gold quality
colonic mucosaUBERON:000031769.91gold quality
saliva-secreting glandUBERON:000104469.46gold quality
mucosa of sigmoid colonUBERON:000499369.10silver quality
C1 segment of cervical spinal cordUBERON:000646968.79gold quality
spinal cordUBERON:000224067.96gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting ANO7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6133100.0066.482064
HSA-MIR-5193100.0067.261744
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-153-5P99.8973.866317
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-129-5P99.8870.263273
HSA-MIR-548D-3P99.8770.674362
HSA-MIR-548BB-3P99.8670.584354
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-548AC99.8470.774351
HSA-MIR-548H-3P99.8470.804349
HSA-MIR-548Z99.8470.804349
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-808099.8267.521342
HSA-MIR-3680-3P99.7572.513095
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-149-3P99.7268.223963
HSA-MIR-119799.7067.751027
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-1249-5P99.6166.552049
HSA-MIR-6797-5P99.6166.552084
HSA-MIR-497-3P99.6169.711990
HSA-MIR-426199.5970.303415

Literature-anchored findings (GeneRIF, showing 12)

  • expressed only in prostate and prostate camcer is a promising target for the antibody-based therapies of prostate cancer (PMID:14981236)
  • Complete coding sequence of TMEM16G cDNA was determined by assembling 25 exons of TMEM16G gene (PMID:15375614)
  • description of the novel prostate-restricted molecule D-TMPP widely expressed in prostate cancer tissues (PMID:15761874)
  • NGEP is a glycoprotein with predicted glycosylation sites at N809 and N824. When these residues were converted to glutamine, glycosylation was abolished, confirming that the residues are extracellular (PMID:18676855)
  • NGEP is a potential target for T cell-mediated immunotherapy of prostate cancer. (PMID:19495750)
  • NGEP protein is widely expressed in low-grade to high-grade prostate adenocarcinomas as well as benign prostate tissues, and the intensity of expression is inversely proportional to the level of malignancy. (PMID:23955683)
  • high level of NGEP expression could be associated with good prognosis in prostate cancer (PMID:25808443)
  • ANO7 genotypes correlate with expression and biochemical relapse, suggesting that ANO7 is a potential PrCa susceptibility gene and that its elevated expression correlates with disease severity and outcome. (PMID:30157291)
  • The interactome of the prostate-specific protein Anoctamin 7. (PMID:32176628)
  • Reduced anoctamin 7 (ANO7) expression is a strong and independent predictor of poor prognosis in prostate cancer. (PMID:33628598)
  • The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression. (PMID:35043958)
  • Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells. (PMID:36674564)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioano7ENSDARG00000104834
mus_musculusAno7ENSMUSG00000034107
rattus_norvegicusAno7ENSRNOG00000023427

Paralogs (10): ANO2 (ENSG00000047617), ANO8 (ENSG00000074855), PPP1R7 (ENSG00000115685), ANO1 (ENSG00000131620), ANO3 (ENSG00000134343), ANO4 (ENSG00000151572), ANO10 (ENSG00000160746), ANO5 (ENSG00000171714), ANO6 (ENSG00000177119), ANO9 (ENSG00000185101)

Protein

Protein identifiers

Anoctamin-7Q6IWH7 (reviewed: Q6IWH7)

Alternative names: Dresden transmembrane protein of the prostate, IPCA-5, New gene expressed in prostate, Prostate cancer-associated protein 5, Transmembrane protein 16G

All UniProt accessions (5): Q6IWH7, A0A6I8PRE6, A0A6Q8JT31, A0A6Q8JTU6, H7C220

UniProt curated annotations — full annotation on UniProt →

Function. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity. May play a role in cell-cell interactions.

Subcellular location. Cell membrane. Cell junction. Endoplasmic reticulum Cytoplasm. Cytosol.

Tissue specificity. Specifically expressed in epithelial cells of the prostate (at protein level).

Induction. Up-regulated by androgen.

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.

Similarity. Belongs to the anoctamin family.

Isoforms (3)

UniProt IDNamesCanonical?
Q6IWH7-11, NGEP-Lyes
Q6IWH7-22, NGEP-S
Q6IWH7-33, D-TMPP

RefSeq proteins (2): NP_001001666, NP_001357623* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007632AnoctaminFamily
IPR032394Anoct_dimerDomain
IPR049452Anoctamin_TMDomain

Pfam: PF04547, PF16178

Catalyzed reactions (Rhea), 3 shown:

  • a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
  • a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
  • a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(out) = a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine(in) (RHEA:38899)

UniProt features (30 total): topological domain 9, transmembrane region 8, splice variant 5, region of interest 2, glycosylation site 2, sequence variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6IWH7-F178.560.37

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 809, 824

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

IDPathway
R-HSA-2672351Stimuli-sensing channels
R-HSA-9733458Induction of Cell-Cell Fusion
R-HSA-1643685Disease
R-HSA-382551Transport of small molecules
R-HSA-5663205Infectious disease
R-HSA-9679506SARS-CoV Infections
R-HSA-9694516SARS-CoV-2 Infection
R-HSA-9772573Late SARS-CoV-2 Infection Events
R-HSA-9824446Viral Infection Pathways
R-HSA-983712Ion channel transport

MSigDB gene sets: 65 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_INORGANIC_ANION_TRANSPORT, CHANDRAN_METASTASIS_DN, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_CHLORIDE_TRANSPORT, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION, GOBP_LIPID_LOCALIZATION, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_ANCHORING_JUNCTION, GOMF_LIPID_TRANSPORTER_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY

GO Biological Process (8): monoatomic ion transmembrane transport (GO:0034220), calcium activated phospholipid scrambling (GO:0061588), chloride transmembrane transport (GO:1902476), lipid transport (GO:0006869), establishment of localization in cell (GO:0051649), calcium activated phosphatidylserine scrambling (GO:0061589), calcium activated phosphatidylcholine scrambling (GO:0061590), calcium activated galactosylceramide scrambling (GO:0061591)

GO Molecular Function (4): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), protein dimerization activity (GO:0046983), phospholipid scramblase activity (GO:0017128)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), plasma membrane (GO:0005886), anchoring junction (GO:0070161), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-8 pathways:

CategoryPathways
Ion channel transport1
Late SARS-CoV-2 Infection Events1
Disease1
Viral Infection Pathways1
SARS-CoV Infections1
SARS-CoV-2 Infection1
Infectious disease1
Transport of small molecules1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
calcium activated phospholipid scrambling3
cellular anatomical structure3
plasma membrane phospholipid scrambling2
cytoplasm2
monoatomic ion transport1
transmembrane transport1
chloride transport1
monoatomic anion transmembrane transport1
transport1
lipid localization1
establishment of localization1
cellular localization1
chloride channel activity1
ligand-gated monoatomic anion channel activity1
intracellularly calcium-gated channel activity1
monoatomic anion channel activity1
chloride transmembrane transporter activity1
protein binding1
intramembrane lipid carrier activity1
endomembrane system1
intracellular membrane-bounded organelle1
membrane1
cell periphery1
cell junction1
intracellular anatomical structure1

Protein interactions and networks

STRING

620 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ANO7ACP3P15309772
ANO7KLK2P20151743
ANO7KLKB1P03952686
ANO7KLK3P07288675
ANO7GBA1P04062586
ANO7RHBDD2Q6NTF9506
ANO7CLCA4Q14CN2480
ANO7CLCA2Q9UQC9480
ANO7MYBPC1Q00872475
ANO7PTPRFP10586469
ANO7KANK1Q14678465
ANO7ARP10275463
ANO7TMEM44Q2T9K0462
ANO7BROXQ5VW32459
ANO7CLCA1A8K7I4447

IntAct

0 interactions, top by confidence:

BioGRID (70): ANO7 (Affinity Capture-RNA), ANO7 (Affinity Capture-MS), HSPA1A (Affinity Capture-MS), COPG2 (Affinity Capture-MS), GAR1 (Affinity Capture-MS), NOL10 (Affinity Capture-MS), LLPH (Affinity Capture-MS), HSD17B10 (Affinity Capture-MS), ARPC3 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), COPG1 (Affinity Capture-MS), ALDH18A1 (Affinity Capture-MS), EIF4A1 (Affinity Capture-MS), CAPZB (Affinity Capture-MS), GARS (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K1Q8, A0A494BA31, B1MTL0, B2RXE2, D3ZBP4, E9Q3M5, F1MH07, O18917, O62667, O88269, P02730, P04919, P04920, P13808, P15575, P16283, P23347, P23348, P23562, P48746, P48751, Q14940, Q14AT5, Q2Y0W8, Q32LP4, Q5DTL9, Q5RB85, Q5RD44, Q60825, Q6IFT6, Q6IWH7, Q6RI88, Q6RVG2, Q6SJP2, Q6U841, Q80ZA5, Q8JZR6, Q8K4V2, Q8NG04, Q8TDZ2

Diamond homologs: A1A5B4, A2AHL1, A6QLE6, P86044, Q14AT5, Q32M45, Q4KMQ2, Q5XXA6, Q6IFT6, Q6IWH7, Q6P9J9, Q75UR0, Q75V66, Q8BHY3, Q8C5H1, Q8CFW1, Q9BYT9, Q9NQ90, Q6PB70, Q9HCE9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

427 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic2
Likely pathogenic2
Uncertain significance264
Likely benign30
Benign84

Top pathogenic / likely-pathogenic (4)

Variant IDHGVSClassification
153228GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1Pathogenic
562613GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1Pathogenic
394636GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1Likely pathogenic
814382GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1Likely pathogenic

SpliceAI

5299 predictions. Top by Δscore:

VariantEffectΔscore
2:241190048:T:Aacceptor_gain1.0000
2:241191183:A:AGacceptor_gain1.0000
2:241191183:AT:Aacceptor_gain1.0000
2:241191184:T:Gacceptor_gain1.0000
2:241202184:T:Gacceptor_gain1.0000
2:241202192:A:AGacceptor_gain1.0000
2:241202192:AG:Aacceptor_loss1.0000
2:241202192:AGCT:Aacceptor_gain1.0000
2:241202193:G:GAacceptor_gain1.0000
2:241202193:GC:Gacceptor_gain1.0000
2:241202193:GCT:Gacceptor_gain1.0000
2:241202193:GCTG:Gacceptor_gain1.0000
2:241202193:GCTGT:Gacceptor_gain1.0000
2:241202272:G:GTdonor_gain1.0000
2:241202302:G:GTdonor_gain1.0000
2:241202302:GAC:Gdonor_gain1.0000
2:241202305:G:GGdonor_gain1.0000
2:241204863:AG:Aacceptor_gain1.0000
2:241204864:GG:Gacceptor_gain1.0000
2:241204956:G:GGdonor_gain1.0000
2:241209429:G:Tdonor_loss1.0000
2:241209430:T:Gdonor_loss1.0000
2:241210289:CCGCA:Cacceptor_loss1.0000
2:241210290:CGCA:Cacceptor_loss1.0000
2:241210291:GCAGG:Gacceptor_loss1.0000
2:241210292:CA:Cacceptor_loss1.0000
2:241210293:A:AGacceptor_gain1.0000
2:241210293:AGGT:Aacceptor_gain1.0000
2:241210294:G:GGacceptor_gain1.0000
2:241210294:GGT:Gacceptor_gain1.0000

AlphaMissense

5730 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:241217886:A:CS779R0.994
2:241217888:C:AS779R0.994
2:241217888:C:GS779R0.994
2:241209516:T:CF468L0.993
2:241209518:T:AF468L0.993
2:241209518:T:GF468L0.993
2:241201299:T:CF240L0.990
2:241201301:C:AF240L0.990
2:241201301:C:GF240L0.990
2:241203486:T:CF347L0.989
2:241203488:C:AF347L0.989
2:241203488:C:GF347L0.989
2:241212200:G:CK610N0.987
2:241212200:G:TK610N0.987
2:241202290:T:CF291L0.985
2:241202292:C:AF291L0.985
2:241202292:C:GF291L0.985
2:241217700:T:CF717L0.985
2:241217702:C:AF717L0.985
2:241217702:C:GF717L0.985
2:241218317:T:CF807L0.984
2:241218319:C:AF807L0.984
2:241218319:C:GF807L0.984
2:241203405:T:AW320R0.983
2:241203405:T:CW320R0.983
2:241217712:T:CF721L0.983
2:241217714:C:AF721L0.983
2:241217714:C:GF721L0.983
2:241217808:C:AR753S0.983
2:241200203:T:CF232L0.982

dbSNP variants (sampled 300 via entrez): RS1000109921 (2:241221546 T>G), RS1000255005 (2:241215967 T>A,C), RS1000273750 (2:241233637 T>G), RS1000314930 (2:241225806 G>A), RS1000395223 (2:241235668 T>G), RS1000413473 (2:241186727 C>T), RS1000416588 (2:241238089 A>G), RS1000442385 (2:241229817 G>A), RS1000468774 (2:241197375 C>T), RS1000543633 (2:241187515 G>A), RS1000547325 (2:241201707 A>T), RS1000578429 (2:241201850 G>A,T), RS1000622052 (2:241224955 G>A), RS1000631646 (2:241192497 C>A), RS1000674487 (2:241224749 T>C)

Disease associations

OMIM: gene MIM:605096 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST001942_6Prostate cancer5.000000e-09
GCST011053_8Neuroblastoma (pediatric)7.000000e-14

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases methylation2
aristolochic acid Idecreases expression1
sotorasibaffects cotreatment, decreases expression1
dicrotophosincreases expression1
pirinixic acidaffects binding, decreases expression, increases activity1
bisphenol Adecreases methylation1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
sodium arsenitedecreases expression1
benzo(e)pyrenedecreases methylation1
abrinedecreases expression1
trametinibaffects cotreatment, decreases expression1
(+)-JQ1 compounddecreases expression1
NVP-BKM120affects cotreatment, decreases expression1
Resveratrolaffects cotreatment, decreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicaffects methylation1
Cisplatindecreases expression1
Methapyrilenedecreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Tobacco Smoke Pollutionaffects expression1
Valproic Acidincreases methylation1
Aflatoxin B1decreases methylation, increases methylation1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_2106M-07eCancer cell lineFemale
CVCL_RM07M-07e/TPOCancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuroblastoma