CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 27151
Gene name C3 and PZP like alpha-2-macroglobulin domain containing 8
Gene symbol CPAMD8
Synonyms (NCBI Gene)
ASGD8K-CAPVIP
Chromosome 19
Chromosome location 19p13.11
Summary 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 cha
miRNA miRNA information provided by mirtarbase database.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT017990 hsa-miR-335-5p Microarray 18185580
MIRT905695 hsa-miR-147 CLIP-seq
MIRT905696 hsa-miR-320e CLIP-seq
MIRT905697 hsa-miR-3650 CLIP-seq
MIRT905698 hsa-miR-3911 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IMP 27839872
GO:0004866 Function Endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608841 23228 ENSG00000160111
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZJ3
Protein name C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01835 MG2 129 → 221 MG2 domain Domain
PF17791 MG3 223 → 302 Macroglobulin domain MG3 Domain
PF17789 MG4 350 → 431 Macroglobulin domain MG4 Domain
PF07703 A2M_BRD 455 → 626 Alpha-2-macroglobulin bait region domain Domain
PF00207 A2M 750 → 841 Alpha-2-macroglobulin family Family
PF12248 Methyltransf_FA 984 → 1086 Family
PF07678 TED_complement 1120 → 1429 A-macroglobulin TED domain Domain
PF07677 A2M_recep 1569 → 1659 A-macroglobulin receptor binding domain Domain
PF07648 Kazal_2 1709 → 1749 Kazal-type serine protease inhibitor domain Domain
Tissue specificity 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 neuroepitheliu
Sequence 
MSGALLWPLLPLLLLLLSARDGVRAAQPQAPGYLIAAPSVFRAGVEEVISVTIFNSPREV
TVQAQLVAQGEPVVQSQGAILDKGTIKLKVPTGLRGQALLKVWGRGWQAEEGPLFHNQTS
VTVDGRGASVFIQTDKPVYRPQHRVLISIFTVSPNLRPVNEKLEAYILDPRGSRMIEWRH
LKPFCCGITNMSFPLSDQPVLGEWFIFVEMQGHAYNKSFEVQKYVLPKFELLIDPPRYIQ
DLDACETGTVRARYTFGKPVAGALMINMTVNGVGYYSHEVGRPVLRTTKILGSRDFDICV
RDMIPADVPEHFRGRVSIWAMVTSVDGSQQVAFDDSTPVQRQLVDIRYSKDTRKQFKPGL
AYVGKVELSYPDGSPAEGVTVQIKAELTPKDNIYTSEVVSQRGLVGFEIPSIPTSAQHVW
LETKVMALNGKPVGAQYLPSYLSLGSWYSPSQCYLQLQPPSHPLQVGEEAYFSVKSTCPC
NFTLYYEVAARGNIVLSGQQPAHTTQQRSKRAAPALEKPIRLTHLSETEPPPAPEAEVDV
CVTSLHLAVTPSMVPLGRLLVFYVRENGEGVADSLQFAVETFFENQVSVTYSANETQPGE
VVDLRIRAARGSCVCVAAVDKSVYLLRSGFRLTPAQVFQELEDYDVSDSFGVSREDGPFW
WAGLTAQRRRRSSVFPWPWGITKDSGFAFTETGLVVMTDRVSLNHRQDGGLYTDEAVPAF
QPHTGSLVAVAPSRHPPRTEKRKRTFFPETWIWHCLNISDPSGEGTLSVKVPDSITSWVG
EAVALSTSQGLGIAEPSLLKTFKPFFVDFMLPALIIRGEQVKIPLSVYNYMGTCAEVYMK
LSVPKGIQFVGHPGKRHVTKKMCVAPGEAEPIWVVLSFSDLGLNNITAKALAYGDTNCCR
DGRSSKHPEENHADRRVPIGVDHVRRSVMVEAEGVPRAYTYSAFFCPSERVHISTPNKYE
FQYVQRPLRLTRFDVAVRAHNDARVALSSGPQDTAGMIEIVLGGHQNTRSWISTSKMGEP
VASAHTAKILSWDEFRTFWISWRGGLIQVGHGPEPSNESVIVAWTLPRPPEVQFIGFSTG
WGSMGEFRIWRKMEVDESYSEAFTLGVPHGAIPGSERATASIIGDVMGPTLNHLNNLLRL
PFGCGEQNMIHFAPNVFVLKYLQKTQQLSPEVERETTDYLVQGYQRQLTYKRQDGSYSAF
GERDASGSMWLTAFVLKSFAQARSFIFVDPRELAAAKSWIIQQQQADGSFLAVGRVLNKD
IQGGIHGTVPLTAYVVVALLETGTASEEERGSTDKARHFLESAAPLAMDPYSCALTTYAL
TLLRSPAAPEALRKLRSLAIMRDGVTHWSLSNSWDVDKGTFLSFSDRVSQSVVSAEVEMT
AYALLTYTLLGDVAAALPVVKWLSQQRNALGGFSSTQDTCVALQALAEYAILSYAGGINL
TVSLASTNLDYQETFELHRTNQKVLQTAAIPSLPTGLFVSAKGDGCCLMQIDVTYNVPDP
VAKPAFQLLVSLQEPEAQGRPPPMPASAAEGSRGDWPPADDDDPAADQHHQEYKVMLEVC
TRWLHAGSSNMAVLEVPLLSGFRADIESLEQLLLDKHMGMKRYEVAGRRVLFYFDEIPSR
CLTCVRFRALRECVVGRTSALPVSVYDYYEPAFEATRFYNVSTHSPLARELCAGPACNEV
ERAPARGPGWFPGESGPAVAPEEGAAIARCGCDHDCGAQGNPVCGSDGVVYASACRLREA
ACRQAAPLEPAPPSCCALEQRLPASSSSTYGDDLASVAPGPLQQDVKLNGAGLEVEDSDP
EPEGEAEDRVTAGPRPPVSSGNLESSTQSASPFHRWGQTPAPQRHSGRVVGAHRPGLLSP
VFVYSPAFQSGGEEGLWMSNTCTLR
Sequence length 1885
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
114
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal anterior eye segment morphology Likely pathogenic rs2513247583 RCV002291330
Anterior segment dysgenesis Pathogenic; Likely pathogenic rs369858688, rs199728419 RCV001200034
RCV001200035
Anterior segment dysgenesis 8 Likely pathogenic; Pathogenic rs374939930, rs1312765862, rs577740063, rs753438460, rs201809454, rs376136046, rs1057519340, rs756064750, rs369858688 RCV005868358
RCV001808101
RCV003148395
RCV003492854
RCV004549015
RCV004549016
RCV004585194
RCV000416368
RCV000416324
RCV000416350
CPAMD8-related disorder Likely pathogenic rs2512740601, rs774658933 RCV003406058
RCV003402668
Show/Hide Unknown Diseases (18)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs117304670, rs61740405 RCV005926338
RCV005928680
Breast ductal adenocarcinoma Uncertain significance rs869025231 RCV000207116
Cholangiocarcinoma Benign rs117304670 RCV005926341
Colon adenocarcinoma Benign rs61745104 RCV005928713
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anterior segment mesenchymal dysgenesis Associate 27839872, 39603092
Autistic Disorder Associate 27839872, 32499604
Autoimmune Diseases Associate 31161422
Cardiomyopathies Associate 22228373
Crohn Disease Associate 22412388
Glaucoma 3 Primary Congenital A Associate 39603092
Hyperkinesis Associate 22228373
Multiple Sclerosis Associate 31161422
Pre Eclampsia Associate 22228373
Uveitis Associate 31161422