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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 Essential Thrombocythemia. Among its related pathways are Innate Immune System and Cell surface interactions at the vascular wall. An important paralog of this gene is TEX101.

Gene Wiki entry for CD177 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD177 Gene

Genomics for CD177 Gene

Regulatory Elements for CD177 Gene

Enhancers for CD177 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G043673 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +321.2 321192 3.0 PKNOX1 ATF1 ZNF133 SIN3A YBX1 ZNF2 ZNF48 ZBTB7B ZNF121 ZNF143 ZNF225 ZNF45 ZNF180 PLAUR LOC100505715 ZNF285 ZNF234 ZNF223 MRPS15P2 LOC100379224
GH19G042419 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -931.1 -931130 5.3 HDGF PKNOX1 FOXA2 ATF1 ARID4B SIN3A ZNF2 ZNF48 ZNF143 REST CIC LIPE CD177 ENSG00000268605 LOC101930071 LIPE-AS1
GH19G042449 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -903.3 -903330 1.7 PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 ZNF143 ZNF207 LIPE RNU4-60P PSG8 CD177 CEACAM1 CXCL17 PIR51613
GH19G042440 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -910.7 -910706 5.3 FOXA2 ARID4B DMAP1 ZNF48 YY1 ZNF416 ZNF143 PPARG KAT8 GLIS1 ZNF574 LIPE-AS1 CNFN CXCL17 PSG8 ENSG00000268355 CD177 GC19P042435
GH19G043341 0.8 Ensembl 9.2 -11.5 -11514 0.9 FEZF1 ZNF366 PATZ1 ZNF600 PRDM10 KLF8 ZBTB10 MAZ ZNF114 YY2 IRGQ LOC100505715 ENSG00000267191 ENSG00000231412 ZNF404 ZNF223 PINLYP ZNF225 CD177 PRG1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD177 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD177 Gene

Chromosome:
19
Start:
43,353,659 bp from pter
End:
43,363,172 bp from pter
Size:
9,514 bases
Orientation:
Plus strand

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:
    No Data Available

    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

Protein Products

  • Abcam proteins 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 Induction:
By CSF3 in resting granulocytes. Induced in patients with polycythemia vera (PV) and with essential thrombocythemia (ET).

Gene Ontology (GO) - Molecular Function for CD177 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
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:

Animal Model Products

CRISPR Products

miRNA for CD177 Gene

miRTarBase miRNAs that target CD177

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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.

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
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:0031225 anchored component of membrane IEA --
GO:0035579 specific granule membrane TAS --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with CD177: view

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:0007596 blood coagulation TAS --
GO:0043312 neutrophil degranulation TAS --
GO:0050900 leukocyte migration TAS --
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:

CRISPR Products

Inhibitory RNA Products

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. Expressed on neutrophils. Expressed in granulocytes of patients with polycythemia vera (PV) and with essential thrombocythemia (ET).

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

Primer Products

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 34 35
  • 96.17 (n)
dog
(Canis familiaris)
Mammalia LOC612424 34
  • 68.7 (n)
CD177 35
  • 18 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd177 34
  • 64.03 (n)
mouse
(Mus musculus)
Mammalia Cd177 34 16 35
  • 62.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 26 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CD177 35
  • 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.

Sequence variations from dbSNP and Humsavar for CD177 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000207945 -- 43,354,142(+) TAGCA(A/G)CGTCT intron-variant
rs1000336340 -- 43,352,947(+) TGATG(C/T)CCACT upstream-variant-2KB
rs1000383035 -- 43,361,832(+) GAGGG(C/G)CTGGG intron-variant
rs1000678785 -- 43,353,164(+) TATGG(A/C)GGGCC upstream-variant-2KB
rs1001220105 -- 43,362,242(+) GAGGG(A/C)CTGGA intron-variant, reference, synonymous-codon

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)

Relevant External Links for CD177 Gene

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

Disorders for CD177 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
polycythemia
  • polycythemia vera
essential thrombocythemia
  • essential thrombocythaemia
deep leiomyoma
myelofibrosis
  • agnogenic myeloid metaplasia
polycythemia vera, somatic
  • polycythemia vera
- elite association - COSMIC cancer census association via MalaCards
Search CD177 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CD177

Genetic Association Database (GAD)
CD177
Human Genome Epidemiology (HuGE) Navigator
CD177
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD177
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 46 64
  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 H.L. (Blood 2000) 2 3 4 22 64
  3. 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 64
  4. Overexpression of the polycythemia rubra vera-1 gene in essential thrombocythemia. (PMID: 12377969) Teofili L. … Larocca L.M. (J. Clin. Oncol. 2002) 3 4 22 64
  5. Molecular basis of NB1 (HNA-2a, CD177) deficiency. (PMID: 12010833) Kissel K. … Bux J. (Blood 2002) 3 4 22 64

Products for CD177 Gene

Sources for CD177 Gene

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