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Aliases for CPAMD8 Gene

Aliases for CPAMD8 Gene

  • C3 And PZP Like, Alpha-2-Macroglobulin Domain Containing 8 2 3 5
  • C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 8 3
  • Alpha-2 Macroglobulin Family Protein VIP 3
  • KIAA1283 4
  • ASGD8 3
  • K-CAP 3
  • VIP 3

External Ids for CPAMD8 Gene

Previous GeneCards Identifiers for CPAMD8 Gene

  • GC19M016866
  • GC19M016867
  • GC19M017003
  • GC07P009820

Summaries for CPAMD8 Gene

Entrez Gene Summary for CPAMD8 Gene

  • This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]

GeneCards Summary for CPAMD8 Gene

CPAMD8 (C3 And PZP Like, Alpha-2-Macroglobulin Domain Containing 8) is a Protein Coding gene. Diseases associated with CPAMD8 include Anterior Segment Dysgenesis 8 and Iris Hypoplasia. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is CD109.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPAMD8 Gene

Genomics for CPAMD8 Gene

Regulatory Elements for CPAMD8 Gene

Enhancers for CPAMD8 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
GH19G016956 1.1 Ensembl ENCODE 26.9 +69.7 69731 1.8 PKNOX1 RB1 FEZF1 ZBTB40 RAD21 ZNF366 ZNF143 ZNF207 THAP11 ZNF654 CPAMD8 ENSG00000269578 MVB12A ENSG00000268087 COLGALT1 ENSG00000267904 PLVAP RAB8A ENSG00000268743 GC19P019557
GH19G017072 1.8 FANTOM5 ENCODE dbSUPER 11.2 -50.4 -50437 8.6 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 ZFP41 ENSG00000268743 MYO9B SIN3B ENSG00000269578 ENSG00000267904 HAUS8 ENSG00000268087 CPAMD8 ENSG00000269439 ENSG00000269044
GH19G016961 0.7 ENCODE 27.3 +65.2 65190 0.9 PKNOX1 KLF1 FOXA2 CREB3L1 KLF17 RBBP5 ZIC2 ZNF2 ZSCAN5C IKZF2 CPAMD8 GC19P019557 GC19P019542
GH19G017239 1.4 ENCODE dbSUPER 10.5 -218.2 -218199 10.4 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF263 TBX21 MEF2D SSRP1 GLIS1 MVB12A NR2F6 ENSG00000267904 ENSG00000268087 OCEL1 ENSG00000269578 BST2 CPAMD8 RPL18A GTPBP3
GH19G016819 1.3 Ensembl ENCODE 11.3 +203.6 203638 6.5 ATF1 GLIS2 GATA2 FOS SP3 CAVIN1 YY2 ZNF518A ZNF592 SREBF1 ENSG00000269578 MVB12A ENSG00000268087 COLGALT1 CPAMD8 ENSG00000267904 PLVAP RAB8A ENSG00000268743 SIN3B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPAMD8 on UCSC Golden Path with GeneCards custom track

Promoters for CPAMD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107827 18 401 NFIC KLF1 L3MBTL2 ZBTB11 KDM1A MGA

Genomic Location for CPAMD8 Gene

Chromosome:
19
Start:
16,892,947 bp from pter
End:
17,026,818 bp from pter
Size:
133,872 bases
Orientation:
Minus strand

Genomic View for CPAMD8 Gene

Genes around CPAMD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPAMD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPAMD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPAMD8 Gene

Proteins for CPAMD8 Gene

  • Protein details for CPAMD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZJ3-CPMD8_HUMAN
    Recommended name:
    C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
    Protein Accession:
    Q8IZJ3
    Secondary Accessions:
    • Q8NC09
    • Q9ULD7

    Protein attributes for CPAMD8 Gene

    Size:
    1885 amino acids
    Molecular mass:
    206702 Da
    Quaternary structure:
    • Interacts with heparin.
    SequenceCaution:
    • Sequence=BAC11400.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CPAMD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPAMD8 Gene

Post-translational modifications for CPAMD8 Gene

  • Proteolytically cleaved into 2 chains of about 70 and 130 kDa. The fragments are not connected by disulfide bonds.
  • Glycosylation at Asn117, isoforms=2190, isoforms=2267, Asn757, and isoforms=21439
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CPAMD8 Gene

Domains & Families for CPAMD8 Gene

Suggested Antigen Peptide Sequences for CPAMD8 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZJ3

UniProtKB/Swiss-Prot:

CPMD8_HUMAN :
  • Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
Family:
  • Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family.
genes like me logo Genes that share domains with CPAMD8: view

Function for CPAMD8 Gene

Molecular function for CPAMD8 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated by IL1B/interleukin-1 beta and IL6/interleukin-6.

Gene Ontology (GO) - Molecular Function for CPAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CPAMD8: view
genes like me logo Genes that share phenotypes with CPAMD8: view

Animal Model Products

CRISPR Products

miRNA for CPAMD8 Gene

miRTarBase miRNAs that target CPAMD8

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CPAMD8 Gene

Localization for CPAMD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPAMD8 Gene

Secreted. Cell membrane; Peripheral membrane protein; Extracellular side.

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 CPAMD8 gene
Compartment Confidence
plasma membrane 4
extracellular 2

Gene Ontology (GO) - Cellular Components for CPAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CPAMD8: view

Pathways & Interactions for CPAMD8 Gene

SuperPathways for CPAMD8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CPAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 27839872
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with CPAMD8: view

No data available for Pathways by source and SIGNOR curated interactions for CPAMD8 Gene

Transcripts for CPAMD8 Gene

Unigene Clusters for CPAMD8 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPAMD8 Gene

No ASD Table

Relevant External Links for CPAMD8 Gene

GeneLoc Exon Structure for
CPAMD8
ECgene alternative splicing isoforms for
CPAMD8

Expression for CPAMD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPAMD8 Gene

mRNA differential expression in normal tissues according to GTEx for CPAMD8 Gene

This gene is overexpressed in Prostate (x6.8).

Protein differential expression in normal tissues from HIPED for CPAMD8 Gene

This gene is overexpressed in Vitreous humor (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CPAMD8 Gene



Protein tissue co-expression partners for CPAMD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CPAMD8 Gene:

CPAMD8

SOURCE GeneReport for Unigene cluster for CPAMD8 Gene:

Hs.631644

mRNA Expression by UniProt/SwissProt for CPAMD8 Gene:

Q8IZJ3-CPMD8_HUMAN
Tissue specificity: Highly expressed in the kidney, brain and testis and to a lower extent in heart, liver and small intestine (PubMed:15177561). Expressed in the lens, cornea and retina. Strongly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body (PubMed:27839872).

Evidence on tissue expression from TISSUES for CPAMD8 Gene

  • Nervous system(4.3)
  • Eye(2)
genes like me logo Genes that share expression patterns with CPAMD8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPAMD8 Gene

Orthologs for CPAMD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPAMD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC455828 34
  • 96.5 (n)
dog
(Canis familiaris)
Mammalia CPAMD8 34 35
  • 85.57 (n)
cow
(Bos Taurus)
Mammalia CPAMD8 34 35
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia CPAMD8 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPAMD8 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves CPAMD8 34 35
  • 70.05 (n)
lizard
(Anolis carolinensis)
Reptilia CPAMD8 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpamd8 34
  • 64.08 (n)
zebrafish
(Danio rerio)
Actinopterygii cpamd8 34
  • 65.67 (n)
CPAMD8 35
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mcr 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for CPAMD8 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for CPAMD8 Gene

ENSEMBL:
Gene Tree for CPAMD8 (if available)
TreeFam:
Gene Tree for CPAMD8 (if available)

Paralogs for CPAMD8 Gene

Paralogs for CPAMD8 Gene

(5) SIMAP similar genes for CPAMD8 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for CPAMD8 Gene

genes like me logo Genes that share paralogs with CPAMD8: view

Variants for CPAMD8 Gene

Sequence variations from dbSNP and Humsavar for CPAMD8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_077933 Anterior segment dysgenesis 8 (ASGD8) [MIM:617319]
rs1057519340 Pathogenic 16,904,267(-) GGCTG(C/T)CCCAG reference, missense
rs369858688 Pathogenic 16,903,624(+) GGGAT(C/T)TGGAG splice-acceptor-variant
rs756064750 Pathogenic 16,970,892(+) TACCT(-/G)GGGGG reference, frameshift-variant
rs869025231 Uncertain significance 16,906,964(-) GCCTG(A/G)CCATC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CPAMD8 Gene

Variant ID Type Subtype PubMed ID
dgv1990e59 CNV duplication 20981092
esv1011304 CNV loss 20482838
esv2669422 CNV deletion 23128226
esv2675257 CNV deletion 23128226
esv2718270 CNV deletion 23290073
esv2718271 CNV deletion 23290073
esv29414 CNV loss 19812545
esv32733 CNV gain 17666407
esv3353965 CNV insertion 20981092
esv3556111 CNV deletion 23714750
esv3556112 CNV deletion 23714750
esv3583265 CNV loss 25503493
esv3643805 CNV loss 21293372
esv3643806 CNV loss 21293372
esv3643807 CNV loss 21293372
nsv1078434 CNV duplication 25765185
nsv1118818 CNV deletion 24896259
nsv1136280 CNV deletion 24896259
nsv1148866 CNV duplication 26484159
nsv2426 CNV insertion 18451855
nsv472179 CNV novel sequence insertion 20440878
nsv519740 CNV gain+loss 19592680
nsv578736 CNV gain 21841781

Variation tolerance for CPAMD8 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.40; 96.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPAMD8 Gene

Human Gene Mutation Database (HGMD)
CPAMD8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPAMD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPAMD8 Gene

Disorders for CPAMD8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CPAMD8 Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
anterior segment dysgenesis 8
  • asgd8
iris hypoplasia
peters anomaly
  • peters-plus syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CPMD8_HUMAN
  • Anterior segment dysgenesis 8 (ASGD8) [MIM:617319]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra-ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:27839872}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CPAMD8

Genetic Association Database (GAD)
CPAMD8
Human Genome Epidemiology (HuGE) Navigator
CPAMD8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CPAMD8
genes like me logo Genes that share disorders with CPAMD8: view

No data available for Genatlas for CPAMD8 Gene

Publications for CPAMD8 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. (PMID: 27839872) Cheong S.S. … Hardcastle A.J. (Am. J. Hum. Genet. 2016) 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini S.E. … Oksenberg J.R. (Hum. Mol. Genet. 2009) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CPAMD8 Gene

Sources for CPAMD8 Gene

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