Aliases for ATP9B Gene

Aliases for ATP9B Gene

  • ATPase Phospholipid Transporting 9B (Putative) 2 3 5
  • ATPIIB 2 3 4
  • Probable Phospholipid-Transporting ATPase IIB 3 4
  • ATPase, Class II, Type 9B 2 3
  • NEO1L 3 4
  • ATPase Type IV, Phospholipid Transporting (P-Type) 3
  • Macrophage MHC Receptor 1 3
  • ATPase Class II Type 9B 4
  • EC 51
  • EC 4
  • HUSSY-20 3
  • EC 3.6.3 51
  • HMMR1 3
  • ATP9B 5

External Ids for ATP9B Gene

Previous GeneCards Identifiers for ATP9B Gene

  • GC18P076619
  • GC18P076855
  • GC18P074928
  • GC18P074930
  • GC18P073459
  • GC18P076829
  • GC18P079047

Summaries for ATP9B Gene

GeneCards Summary for ATP9B Gene

ATP9B (ATPase Phospholipid Transporting 9B (Putative)) is a Protein Coding gene. Diseases associated with ATP9B include Cholestasis, Benign Recurrent Intrahepatic, 1 and Robinow Syndrome, Autosomal Dominant 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP9A.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP9B Gene

Genomics for ATP9B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP9B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP9B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP9B

Top Transcription factor binding sites by QIAGEN in the ATP9B gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • En-1
  • Hlf
  • SEF-1 (1)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for ATP9B Gene

Latest Assembly
309,107 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
308,890 bases
Plus strand

(GRCh37/hg19 by Ensembl)
308,999 bases
Plus strand

Genomic View for ATP9B Gene

Genes around ATP9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP9B Gene

Proteins for ATP9B Gene

  • Protein details for ATP9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable phospholipid-transporting ATPase IIB
    Protein Accession:
    Secondary Accessions:
    • O60872
    • Q08AD8
    • Q08AD9

    Protein attributes for ATP9B Gene

    1147 amino acids
    Molecular mass:
    129304 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ATP9B Gene


neXtProt entry for ATP9B Gene

Selected DME Specific Peptides for ATP9B Gene


Post-translational modifications for ATP9B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP9B Gene

Gene Families for ATP9B Gene

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

Suggested Antigen Peptide Sequences for ATP9B Gene

GenScript: Design optimal peptide antigens:
  • ATPase class II type 9B (ATP9B_HUMAN)
  • cDNA FLJ36385 fis, clone THYMU2008727, highly similar to Probable phospholipid-transporting ATPase IIB (EC (B3KSI8_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP9B: view

Function for ATP9B Gene

Molecular function for ATP9B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=;.

Enzyme Numbers (IUBMB) for ATP9B Gene

Phenotypes From GWAS Catalog for ATP9B Gene

Gene Ontology (GO) - Molecular Function for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP9B: view
genes like me logo Genes that share phenotypes with ATP9B: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ATP9B

miRNA for ATP9B Gene

miRTarBase miRNAs that target ATP9B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP9B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP9B Gene

Localization for ATP9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP9B Gene

Golgi apparatus, trans-Golgi network membrane. Multi-pass membrane protein. Note=Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B.

Subcellular locations from

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 ATP9B gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
endosome 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IEA,IDA 21914794
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATP9B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP9B Gene

Pathways & Interactions for ATP9B Gene

genes like me logo Genes that share pathways with ATP9B: view

Pathways by source for ATP9B Gene

Gene Ontology (GO) - Biological Process for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA 21873635
GO:0006897 endocytosis IBA 21873635
GO:0015914 phospholipid transport IEA --
GO:0034204 lipid translocation IEA --
GO:0045332 phospholipid translocation IBA,NAS 21914794
genes like me logo Genes that share ontologies with ATP9B: view

No data available for SIGNOR curated interactions for ATP9B Gene

Drugs & Compounds for ATP9B Gene

(3) Drugs for ATP9B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for ATP9B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
genes like me logo Genes that share compounds with ATP9B: view

Transcripts for ATP9B Gene

mRNA/cDNA for ATP9B Gene

23 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP9B

Alternative Splicing Database (ASD) splice patterns (SP) for ATP9B Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21
SP2: - -
SP3: -
SP5: -

Relevant External Links for ATP9B Gene

GeneLoc Exon Structure for

Expression for ATP9B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP9B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP9B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP9B Gene

Protein tissue co-expression partners for ATP9B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP9B

SOURCE GeneReport for Unigene cluster for ATP9B Gene:


Evidence on tissue expression from TISSUES for ATP9B Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with ATP9B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP9B Gene

Orthologs for ATP9B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP9B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP9B 30 31
  • 99.58 (n)
(Monodelphis domestica)
Mammalia ATP9B 31
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia ATP9B 31
  • 92 (a)
(Canis familiaris)
Mammalia ATP9B 30 31
  • 87.87 (n)
(Rattus norvegicus)
Mammalia Atp9b 30
  • 87.56 (n)
(Mus musculus)
Mammalia Atp9b 30 17 31
  • 86.74 (n)
(Bos Taurus)
Mammalia ATP9B 30 31
  • 85.9 (n)
(Gallus gallus)
Aves ATP9B 30 31
  • 80.66 (n)
(Anolis carolinensis)
Reptilia ATP9B 31
  • 91 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp9b 30
  • 77.81 (n)
(Danio rerio)
Actinopterygii atp9b 30 31
  • 74.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008184 30
  • 62.81 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31729 30 31
  • 61.03 (n)
(Caenorhabditis elegans)
Secernentea tat-5 30 31
  • 57.99 (n)
tat-6 31
  • 55 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NEO1 30 31 33
  • 54.34 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08393g 30
  • 53.68 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL079C 30
  • 53.5 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03818 30
  • 53.98 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6C3.06c 30
  • 53.61 (n)
Species where no ortholog for ATP9B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for ATP9B Gene

Gene Tree for ATP9B (if available)
Gene Tree for ATP9B (if available)
Evolutionary constrained regions (ECRs) for ATP9B: view image

Paralogs for ATP9B Gene

(11) SIMAP similar genes for ATP9B Gene using alignment to 14 proteins:

  • B4DJ94_HUMAN
  • F5H8J1_HUMAN
  • K7EL57_HUMAN
  • K7EQ39_HUMAN
  • K7ES39_HUMAN
  • Q7Z6L4_HUMAN
genes like me logo Genes that share paralogs with ATP9B: view

Variants for ATP9B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP9B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs1113034 Benign: not provided 79,253,425(+) A/G
NM_198531.5(ATP9B):c.1152A>G (p.Leu384=)
rs115068761 Benign: not provided 79,336,714(+) G/A
rs139181346 Likely Benign: not provided 79,306,999(+) C/A
NM_198531.5(ATP9B):c.1538C>A (p.Ala513Asp)
rs34339254 Benign: not provided 79,307,171(+) C/T
NM_198531.5(ATP9B):c.1710C>T (p.Phe570=)
rs36034863 Benign: not provided. - 79,303,702(+) G/Ap.Asp504Asn
NM_198531.5(ATP9B):c.1510G>A (p.Asp504Asn)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP9B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP9B Gene

Variant ID Type Subtype PubMed ID
dgv1657n106 CNV tandem duplication 24896259
dgv1948e59 CNV duplication 20981092
dgv1949e59 CNV duplication 20981092
dgv6109n54 CNV loss 21841781
dgv6110n54 CNV loss 21841781
dgv6111n54 CNV loss 21841781
dgv6112n54 CNV loss 21841781
dgv647e214 CNV loss 21293372
esv1008165 CNV gain 20482838
esv1056624 CNV insertion 17803354
esv1077708 CNV insertion 17803354
esv1119288 CNV deletion 17803354
esv1174461 CNV insertion 17803354
esv1190688 CNV insertion 17803354
esv1259444 CNV deletion 17803354
esv1264547 CNV deletion 17803354
esv1427355 CNV deletion 17803354
esv1522973 CNV deletion 17803354
esv1673763 CNV insertion 17803354
esv1713949 CNV deletion 17803354
esv1733392 CNV insertion 17803354
esv1783371 CNV deletion 17803354
esv2199105 CNV deletion 18987734
esv2312062 CNV deletion 18987734
esv23162 CNV loss 19812545
esv2335299 CNV deletion 18987734
esv23740 CNV loss 19812545
esv24030 CNV loss 19812545
esv2450569 CNV deletion 19546169
esv25299 CNV loss 19812545
esv2578938 CNV insertion 19546169
esv2585896 CNV insertion 19546169
esv2618492 CNV deletion 19546169
esv2658682 CNV deletion 23128226
esv26605 CNV gain+loss 19812545
esv2662015 CNV deletion 23128226
esv2665946 CNV deletion 23128226
esv2675984 CNV deletion 23128226
esv2717497 CNV deletion 23290073
esv2717624 CNV deletion 23290073
esv2717625 CNV deletion 23290073
esv2717626 CNV deletion 23290073
esv2717627 CNV deletion 23290073
esv2717628 CNV deletion 23290073
esv2717630 CNV deletion 23290073
esv2717631 CNV deletion 23290073
esv2717632 CNV deletion 23290073
esv2717633 CNV deletion 23290073
esv2717634 CNV deletion 23290073
esv2717635 CNV deletion 23290073
esv2717636 CNV deletion 23290073
esv2717637 CNV deletion 23290073
esv2717638 CNV deletion 23290073
esv2717639 CNV deletion 23290073
esv2717641 CNV deletion 23290073
esv2760476 CNV gain+loss 21179565
esv2855125 CNV duplication 24192839
esv3212 CNV loss 18987735
esv3555767 CNV deletion 23714750
esv3555770 CNV deletion 23714750
esv3555771 CNV deletion 23714750
esv3555772 CNV deletion 23714750
esv3555773 CNV deletion 23714750
esv3643283 CNV loss 21293372
esv3643284 CNV gain 21293372
esv3643288 CNV loss 21293372
esv3643289 CNV gain 21293372
esv3643290 CNV loss 21293372
esv3643291 CNV loss 21293372
esv3643292 CNV loss 21293372
esv3643293 CNV loss 21293372
esv3643294 CNV loss 21293372
esv3643295 CNV gain 21293372
esv3643298 CNV gain 21293372
esv3643299 CNV loss 21293372
esv3643301 CNV loss 21293372
esv3643302 CNV gain 21293372
esv6904 CNV loss 19470904
esv7963 CNV gain 19470904
esv992301 CNV deletion 20482838
nsv1055232 CNV loss 25217958
nsv1057354 CNV gain 25217958
nsv1065064 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1072823 CNV deletion 25765185
nsv1075946 CNV duplication 25765185
nsv1078231 CNV insertion 25765185
nsv1078909 CNV insertion 25765185
nsv1118607 CNV duplication 24896259
nsv1119467 CNV insertion 24896259
nsv1120351 CNV tandem duplication 24896259
nsv1123201 CNV deletion 24896259
nsv1141945 CNV deletion 24896259
nsv1146663 CNV deletion 26484159
nsv1147130 CNV deletion 26484159
nsv1147433 CNV insertion 26484159
nsv1151252 CNV deletion 26484159
nsv130751 CNV deletion 16902084
nsv130781 CNV insertion 16902084
nsv131327 CNV insertion 16902084
nsv131338 CNV deletion 16902084
nsv131643 CNV deletion 16902084
nsv131739 CNV deletion 16902084
nsv131751 CNV deletion 16902084
nsv132147 CNV deletion 16902084
nsv2379 CNV insertion 18451855
nsv428359 CNV gain 18775914
nsv475637 CNV novel sequence insertion 20440878
nsv475677 CNV novel sequence insertion 20440878
nsv477225 CNV novel sequence insertion 20440878
nsv509704 CNV insertion 20534489
nsv509705 CNV insertion 20534489
nsv509706 CNV insertion 20534489
nsv577794 CNV gain 21841781
nsv577848 CNV loss 21841781
nsv577860 CNV loss 21841781
nsv577871 CNV loss 21841781
nsv577873 CNV gain 21841781
nsv577874 CNV loss 21841781
nsv577875 CNV loss 21841781
nsv577876 CNV loss 21841781
nsv820421 CNV deletion 20802225
nsv828343 CNV loss 20364138
nsv954129 CNV deletion 24416366
nsv954134 CNV deletion 24416366

Variation tolerance for ATP9B Gene

Residual Variation Intolerance Score: 1.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.52; 85.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP9B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP9B Gene

Disorders for ATP9B Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP9B Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search ATP9B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATP9B

genes like me logo Genes that share disorders with ATP9B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP9B Gene

Publications for ATP9B Gene

  1. Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. (PMID: 9548971) Halleck MS … Schlegel RA (Genome research 1998) 2 3 4
  2. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PMID: 21914794) Takatsu H … Shin HW (The Journal of biological chemistry 2011) 3 4
  3. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F … Valle G (Yeast (Chichester, England) 2001) 3 4

Products for ATP9B Gene

Sources for ATP9B Gene