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Aliases for CD177 Gene

Aliases for CD177 Gene

  • CD177 Molecule 2 3 5
  • CD177 Antigen 2 3 4
  • Polycythemia Rubra Vera Protein 1 3 4
  • Human Neutrophil Alloantigen 2a 3 4
  • NB1 Glycoprotein 3 4
  • NB1 GP 3 4
  • HNA-2a 3 4
  • PRV-1 3 4
  • PRV1 3 4
  • NB1 3 4
  • Polycythemia Rubra Vera 1 2
  • Cell Surface Receptor 3
  • HNA2A 3

External Ids for CD177 Gene

Previous GeneCards Identifiers for CD177 Gene

  • GC19P048550
  • GC19P043857
  • GC19P040287

Summaries for CD177 Gene

Entrez Gene Summary for CD177 Gene

  • This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 2014]

GeneCards Summary for CD177 Gene

CD177 (CD177 Molecule) is a Protein Coding gene. Diseases associated with CD177 include Polycythemia and Polycythemia Vera. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Innate Immune System. An important paralog of this gene is TEX101.

UniProtKB/Swiss-Prot for CD177 Gene

  • In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production (PubMed:21193407). In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration (PubMed:28807980). Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro (PubMed:17580308). However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo (PubMed:23461681). Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils (PubMed:17244676, PubMed:18462208). By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis (PubMed:23202369).

Gene Wiki entry for CD177 Gene

Additional gene information for CD177 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD177 Gene

Genomics for CD177 Gene

GeneHancer (GH) Regulatory Elements for CD177 Gene

Promoters and enhancers for CD177 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
GH19I043354 Promoter 0.7 EPDnew 550.8 +0.0 8 0.1 GLIS1 ZIC2 EZH2 CD177 ENSG00000272396
GH19I043353 Enhancer 0.5 Ensembl 558.7 +0.3 342 0.4 ZFP69B GLIS1 ZIC2 EZH2 CD177 ENSG00000272396
GH19I043352 Enhancer 0.5 FANTOM5 553 -1.3 -1334 0.4 ZSCAN21 GATA3 GLIS1 EZH2 ZNF112 CD177 MRPS15P2 ZNF283 ENSG00000267191 ZNF221 LOC101928063 ZNF576 ZNF223 ZNF225 PRG1
GH19I042419 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -931.1 -931130 5.3 HDGF PKNOX1 ATF1 SMAD1 FOXA2 ARID4B SIN3A ZNF2 ZNF48 ZNF143 CIC LIPE CD177 ENSG00000268605 LIPE-AS1 LOC101930071
GH19I042440 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.8 -910.7 -910706 5.3 FOXA2 ARID4B DMAP1 ZNF48 YY1 ZNF416 ZNF143 RUNX3 KLF13 RXRA CXCL17 ZNF574 LIPE-AS1 CNFN PSG8 ENSG00000268355 CD177 GC19P042435
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD177 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD177 gene promoter:

Genomic Locations for CD177 Gene

Genomic Locations for CD177 Gene
chr19:43,353,659-43,363,172
(GRCh38/hg38)
Size:
9,514 bases
Orientation:
Plus strand
chr19:43,857,811-43,867,480
(GRCh37/hg19)

Genomic View for CD177 Gene

Genes around CD177 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD177 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD177 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD177 Gene

Proteins for CD177 Gene

  • Protein details for CD177 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6Q3-CD177_HUMAN
    Recommended name:
    CD177 antigen
    Protein Accession:
    Q8N6Q3
    Secondary Accessions:
    • Q711Q2
    • Q8NCV9
    • Q96QH1
    • Q9HDA5

    Protein attributes for CD177 Gene

    Size:
    437 amino acids
    Molecular mass:
    46363 Da
    Quaternary structure:
    • Found in a complex with integrin ITGAM/CD11b and ITGB2/CD18 (PubMed:28807980, PubMed:21193407). Interacts with PECAM1 (via Ig-like C2-type domain 6); the interaction is Ca(2+)-dependent; the interaction is direct (PubMed:17580308). Interacts with serine protease PRTN3/myeloblastin; the interaction tethers PRTN3 to the cell surface; the interaction is direct (PubMed:17244676, PubMed:28240246).

    Alternative splice isoforms for CD177 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD177 Gene

Post-translational modifications for CD177 Gene

Other Protein References for CD177 Gene

Antibody Products

  • Abcam antibodies for CD177

No data available for DME Specific Peptides for CD177 Gene

Domains & Families for CD177 Gene

Gene Families for CD177 Gene

Protein Domains for CD177 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CD177 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CD177: view

No data available for UniProtKB/Swiss-Prot for CD177 Gene

Function for CD177 Gene

Molecular function for CD177 Gene

UniProtKB/Swiss-Prot Function:
In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production (PubMed:21193407). In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration (PubMed:28807980). Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro (PubMed:17580308). However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo (PubMed:23461681). Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils (PubMed:17244676, PubMed:18462208). By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis (PubMed:23202369).
UniProtKB/Swiss-Prot Induction:
By CSF3/G-CSF in resting granulocytes (PubMed:10753836). Induced during CSF3/G-CSF-mediated neutrophil differentiation (PubMed:17244676, PubMed:18462208). Induced during pregnancy (PubMed:12675722). Induced in patients with polycythemia vera (PV) and with essential thrombocythemia (ET) (PubMed:10753836, PubMed:12377969).

Gene Ontology (GO) - Molecular Function for CD177 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 17244676
GO:0005178 integrin binding IPI 21193407
GO:0005515 protein binding IPI 16189514
GO:0048306 calcium-dependent protein binding IPI 17580308
genes like me logo Genes that share ontologies with CD177: view

Phenotypes for CD177 Gene

genes like me logo Genes that share phenotypes with CD177: view

Animal Models for CD177 Gene

MGI Knock Outs for CD177:

miRNA for CD177 Gene

miRTarBase miRNAs that target CD177

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD177 Gene

Localization for CD177 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD177 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Membrane raft; Lipid-anchor, GPI-like-anchor. Secreted. Cytoplasmic granule membrane. Cell projection, lamellipodium. Note=Cell surface expression on neutrophils is increased upon TNF-alpha, fMLP or CXCL8/IL8-mediated stimulation (PubMed:17244676, PubMed:17580308). In neutrophils, stored predominantly in secondary and tertiary granules (PubMed:18462208). Can also be shedded from the cell membrane (PubMed:12239154, PubMed:18462208). Localizes to lamellar protrusions in spreading neutrophils (PubMed:28807980). {ECO:0000269 PubMed:12239154, ECO:0000269 PubMed:17244676, ECO:0000269 PubMed:17580308, ECO:0000269 PubMed:18462208, ECO:0000269 PubMed:28807980}.

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 CD177 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CD177 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030027 lamellipodium IEA --
GO:0030667 secretory granule membrane IDA 18462208
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with CD177: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD177 Gene

Pathways & Interactions for CD177 Gene

genes like me logo Genes that share pathways with CD177: view

Interacting Proteins for CD177 Gene

Selected Interacting proteins: Q8N6Q3-CD177_HUMAN for CD177 Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for CD177 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IMP 28807980
GO:0007159 leukocyte cell-cell adhesion IMP 17580308
GO:0007596 blood coagulation TAS --
GO:0030100 regulation of endocytosis IDA 28807980
GO:0032930 positive regulation of superoxide anion generation IGI 21193407
genes like me logo Genes that share ontologies with CD177: view

No data available for SIGNOR curated interactions for CD177 Gene

Drugs & Compounds for CD177 Gene

(1) Drugs for CD177 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CD177: view

Transcripts for CD177 Gene

Unigene Clusters for CD177 Gene

CD177 molecule:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD177 Gene

No ASD Table

Relevant External Links for CD177 Gene

GeneLoc Exon Structure for
CD177
ECgene alternative splicing isoforms for
CD177

Expression for CD177 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD177 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD177 Gene

This gene is overexpressed in Whole Blood (x47.7).

Protein differential expression in normal tissues from HIPED for CD177 Gene

This gene is overexpressed in Nasal epithelium (45.5), Cervix (6.9), and Saliva (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD177 Gene



NURSA nuclear receptor signaling pathways regulating expression of CD177 Gene:

CD177

SOURCE GeneReport for Unigene cluster for CD177 Gene:

Hs.232165

mRNA Expression by UniProt/SwissProt for CD177 Gene:

Q8N6Q3-CD177_HUMAN
Tissue specificity: Highly expressed in normal bone marrow and weakly expressed in fetal liver (PubMed:10753836). During neutrophil differentiation, expression begins at the metamyelocyte stage and continues throughout the subsequent stages (at protein level) (PubMed:17244676, PubMed:18462208, PubMed:24926686). Expressed by a subset of mature neutrophils (at protein level) (PubMed:10753836, PubMed:28240246, PubMed:12377969, PubMed:18462208, PubMed:12675722, PubMed:17244676, PubMed:17580308, PubMed:21193407, PubMed:24926686, PubMed:28807980, PubMed:27227454). The percentage of neutrophils expressing CD177 varies across the population (PubMed:17244676, PubMed:27227454). Expressed in granulocytes of patients with polycythemia vera (PV) and with essential thrombocythemia (ET) (PubMed:10753836, PubMed:12377969).

Evidence on tissue expression from TISSUES for CD177 Gene

  • Intestine(4.8)
  • Bone marrow(2.4)
  • Blood(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with CD177: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD177 Gene

Orthologs for CD177 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD177 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD177 33 34
  • 96.17 (n)
dog
(Canis familiaris)
Mammalia LOC612424 33
  • 68.7 (n)
CD177 34
  • 18 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd177 33
  • 64.03 (n)
mouse
(Mus musculus)
Mammalia Cd177 33 16 34
  • 62.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 26 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CD177 34
  • 16 (a)
OneToOne
Species where no ortholog for CD177 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD177 Gene

ENSEMBL:
Gene Tree for CD177 (if available)
TreeFam:
Gene Tree for CD177 (if available)

Paralogs for CD177 Gene

Paralogs for CD177 Gene

(2) SIMAP similar genes for CD177 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CD177 Gene

genes like me logo Genes that share paralogs with CD177: view

Variants for CD177 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CD177 Gene

CD177_HUMAN-Q8N6Q3
There is a significant association between the variants Ala-3, Leu-251 and Thr-348 and a low expression of CD177 on neutrophils (PubMed:12623849, PubMed:14692971). Expression of CD177 on neutrophils is a trait determined by ratio of CD177/CD177P1 alleles (PubMed:27227454). The phenotype of CD177 null neutrophils is due to recombination between exon 7 of CD177 and the pseudogene CD177P1 through gene conversion, changing Lys-263 codon into stop codon (PubMed:27227454). The lack of CD177 expression affects 1-10 percent of the population placing them at risk for formation of anti-neutrophil antibodies that can cause transfusion-related acute lung injury and neonatal alloimmune neutropenia.

Sequence variations from dbSNP and Humsavar for CD177 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000207945 -- 43,354,142(+) G/A intron_variant
rs1000336340 -- 43,352,947(+) C/T upstream_transcript_variant
rs1000383035 -- 43,361,832(+) G/C intron_variant
rs1000678785 -- 43,353,164(+) A/C upstream_transcript_variant
rs1001220105 -- 43,362,242(+) C/A/T coding_sequence_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CD177 Gene

Variant ID Type Subtype PubMed ID
dgv3591n100 CNV loss 25217958
dgv3603n100 CNV gain 25217958
dgv6502n54 CNV loss 21841781
esv2751795 CNV loss 17911159
esv2758763 CNV gain+loss 17122850
esv3644464 CNV loss 21293372
esv5616 OTHER inversion 19470904
esv8862 OTHER inversion 19470904
nsv1057657 CNV gain 25217958
nsv1057682 CNV loss 25217958
nsv1060280 CNV gain 25217958
nsv469666 CNV loss 16826518
nsv469787 CNV loss 16826518
nsv516973 CNV gain+loss 19592680
nsv526966 CNV loss 19592680
nsv828560 CNV gain 20364138
nsv828561 CNV loss 20364138
nsv963057 CNV duplication 23825009
nsv978908 CNV duplication 23825009

Variation tolerance for CD177 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD177 Gene

Human Gene Mutation Database (HGMD)
CD177
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD177

SNP Genotyping and Copy Number Assay Products

Disorders for CD177 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CD177 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polycythemia
  • polycythemia vera
polycythemia vera
  • pv
neonatal alloimmune neutropenia
  • neutropenia, alloimmune neonatal
essential thrombocythemia
  • essential thrombocythaemia
deep leiomyoma
- elite association - COSMIC cancer census association via MalaCards
Search CD177 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD177

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD177: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD177 Gene

Publications for CD177 Gene

  1. Lack of NB1 GP (CD177/HNA-2a) gene transcription in NB1 GP- neutrophils from NB1 GP-expressing individuals and association of low expression with NB1 gene polymorphisms. (PMID: 12623849) Wolff J … Bux J (Blood 2003) 3 4 22 44 58
  2. Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in polycythemia rubra vera. (PMID: 10753836) Temerinac S … Pahl HL (Blood 2000) 2 3 4 22 58
  3. Neutrophil surface presentation of the anti-neutrophil cytoplasmic antibody-antigen proteinase 3 depends on N-terminal processing. (PMID: 18462208) von Vietinghoff S … Kettritz R (Clinical and experimental immunology 2008) 3 4 22 58
  4. CD177 polymorphisms: correlation between high-frequency single nucleotide polymorphisms and neutrophil surface protein expression. (PMID: 14692971) Caruccio L … Stroncek D (Transfusion 2004) 3 4 22 58
  5. Expression of human neutrophil antigen-2a (NB1) is increased in pregnancy. (PMID: 12675722) Caruccio L … Stroncek D (Transfusion 2003) 3 4 22 58

Products for CD177 Gene

Sources for CD177 Gene

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