Human Gene CPAMD8 (ENST00000443236.7_10) from GENCODE V47lift37
  Description: C3 and PZP like alpha-2-macroglobulin domain containing 8, transcript variant 1 (from RefSeq NM_015692.5)
Gencode Transcript: ENST00000443236.7_10
Gencode Gene: ENSG00000160111.15_14
Transcript (Including UTRs)
   Position: hg19 chr19:17,003,762-17,137,620 Size: 133,859 Total Exon Count: 42 Strand: -
Coding Region
   Position: hg19 chr19:17,003,919-17,137,452 Size: 133,534 Coding Exon Count: 42 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:17,003,762-17,137,620)mRNA (may differ from genome)Protein (1885 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CPMD8_HUMAN
DESCRIPTION: RecName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8; Flags: Precursor;
SUBUNIT: Interacts with heparin.
SUBCELLULAR LOCATION: Secreted (Probable). Cell membrane; Peripheral membrane protein; Extracellular side.
TISSUE SPECIFICITY: Highly expressed in the kidney, brain and testis and to a lower extent in heart, liver and small intestine.
INDUCTION: Up-regulated by IL1B/interleukin-1 beta and IL6/interleukin-6.
PTM: Proteolytically cleaved into 2 chains of about 70 and 130 kDa. The fragments are not connected by disulfide bonds.
SIMILARITY: Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family.
SIMILARITY: Contains 1 Kazal-like domain.
SEQUENCE CAUTION: Sequence=BAC11400.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CPAMD8
Diseases sorted by gene-association score: anterior segment dysgenesis 8* (1229), iris hypoplasia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C517826 tetrabrominated diphenyl ether 47

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.53 RPKM in Prostate
Total median expression: 119.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.50168-0.568 Picture PostScript Text
3' UTR -39.80157-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009048 - A-macroglobulin_rcpt-bd
IPR011626 - A2M_comp
IPR002890 - A2M_N
IPR011625 - A2M_N_2
IPR011497 - Kazal-type_dom
IPR001599 - Macroglobln_a2
IPR019742 - MacrogloblnA2_CS
IPR019565 - MacrogloblnA2_thiol-ester-bond
IPR022041 - Methyltransf_FA
IPR002350 - Prot_inh_Kazal
IPR008930 - Terpenoid_cyclase/PrenylTrfase

Pfam Domains:
PF00207 - Alpha-2-macroglobulin family
PF01835 - MG2 domain
PF07648 - Kazal-type serine protease inhibitor domain
PF07677 - A-macroglobulin receptor binding domain
PF07678 - A-macroglobulin TED domain
PF07703 - Alpha-2-macroglobulin bait region domain
PF12248 - Farnesoic acid 0-methyl transferase
PF17789 - Macroglobulin domain MG4
PF17791 - Macroglobulin domain MG3

SCOP Domains:
48239 - Terpenoid cyclases/Protein prenyltransferases
81853 - Family 10 polysaccharide lyase
81296 - E set domains
49410 - Alpha-macroglobulin receptor domain
100895 - Kazal-type serine protease inhibitors

ModBase Predicted Comparative 3D Structure on Q8IZJ3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004866 endopeptidase inhibitor activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity

Biological Process:
GO:0001654 eye development
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AB033109 - Homo sapiens mRNA for KIAA1283 protein, partial cds.
AY101765 - Homo sapiens C3 and PZP-like alpha-2-macroglobulin domain containing 8 (CPAMD8) mRNA, complete cds.
AK124052 - Homo sapiens cDNA FLJ42058 fis, clone SYNOV1000374.
AK092632 - Homo sapiens cDNA FLJ35313 fis, clone PROST2010579.
AK075099 - Homo sapiens cDNA FLJ90618 fis, clone PLACE1002355, weakly similar to COMPLEMENT C4 PRECURSOR.
JD284377 - Sequence 265401 from Patent EP1572962.
JD491527 - Sequence 472551 from Patent EP1572962.
BC067854 - Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8, mRNA (cDNA clone IMAGE:30339671), complete cds.
JD522036 - Sequence 503060 from Patent EP1572962.
JD395205 - Sequence 376229 from Patent EP1572962.
JD296013 - Sequence 277037 from Patent EP1572962.
JD504640 - Sequence 485664 from Patent EP1572962.
JD432247 - Sequence 413271 from Patent EP1572962.
JD396884 - Sequence 377908 from Patent EP1572962.
JD286947 - Sequence 267971 from Patent EP1572962.
JD056759 - Sequence 37783 from Patent EP1572962.
JD115856 - Sequence 96880 from Patent EP1572962.
JD203638 - Sequence 184662 from Patent EP1572962.
JD454826 - Sequence 435850 from Patent EP1572962.
JD085863 - Sequence 66887 from Patent EP1572962.
JD351157 - Sequence 332181 from Patent EP1572962.
JD400443 - Sequence 381467 from Patent EP1572962.
JD162780 - Sequence 143804 from Patent EP1572962.
JD147975 - Sequence 128999 from Patent EP1572962.
JD382314 - Sequence 363338 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CPAMD8 , CPMD8_HUMAN, ENST00000443236.1, ENST00000443236.2, ENST00000443236.3, ENST00000443236.4, ENST00000443236.5, ENST00000443236.6, KIAA1283 , NM_015692, Q8IZJ3, Q8NC09, Q9ULD7, uc320leq.1, uc320leq.2
UCSC ID: ENST00000443236.7_10
RefSeq Accession: NM_015692.5
Protein: Q8IZJ3 (aka CPMD8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.