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

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27151
Gene name Gene Name - the full gene name approved by the HGNC.
C3 and PZP like alpha-2-macroglobulin domain containing 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPAMD8
Synonyms (NCBI Gene) Gene synonyms aliases
ASGD8, K-CAP, VIP
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez 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 cha
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608841 23228 ENSG00000160111
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
anterior segment dysgenesis Anterior segment dysgenesis rs369858688 N/A
Segment dysgenesis anterior segment dysgenesis 8 rs1057519340, rs756064750, rs369858688 N/A
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease 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