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    CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 27151, updated on 14-Nov-2024

    Summary

    Official Symbol
    CPAMD8provided by HGNC
    Official Full Name
    C3 and PZP like alpha-2-macroglobulin domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:23228
    See related
    Ensembl:ENSG00000160111 MIM:608841; AllianceGenome:HGNC:23228
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VIP; ASGD8; K-CAP
    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 chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
    Expression
    Biased expression in lung (RPKM 10.3), prostate (RPKM 7.9) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CPAMD8 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16892951..17026810, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17027788..17161726, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17003762..17137620, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16939935-16940436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14248 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16947461-16947962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16957115-16957616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16957617-16958116 Neighboring gene SIN3 transcription regulator family member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16996894-16997394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17000485-17001084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10318 Neighboring gene RNA, 7SL, cytoplasmic 835, pseudogene Neighboring gene F2R like thrombin or trypsin receptor 3 Neighboring gene RNA, 7SL, cytoplasmic 823, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17062521-17063084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17071591-17072150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17072151-17072708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17137792-17138700 Neighboring gene Sharpr-MPRA regulatory region 9643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10319 Neighboring gene Sharpr-MPRA regulatory region 7940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17190569-17191106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17192643-17193192 Neighboring gene HAUS augmin like complex subunit 8 Neighboring gene myosin IXB Neighboring gene small nucleolar RNA, H/ACA box 118

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Anterior segment dysgenesis 8
    MedGen: C4310622 OMIM: 617319 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42058, FLJ90618, KIAA1283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
    Names
    alpha-2 macroglobulin family protein VIP

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054892.1 RefSeqGene

      Range
      5009..138868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015692.5NP_056507.3  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      AC008737, AC020908, AI670110, AY101765, BC067854, BF726092, BP302427
      Consensus CDS
      CCDS42519.2
      UniProtKB/Swiss-Prot
      Q8IZJ3, Q8NC09, Q9ULD7
      UniProtKB/TrEMBL
      A0A494C0S9
      Related
      ENSP00000402505.3, ENST00000443236.7
      Conserved Domains (8) summary
      smart00280
      Location:17121744
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11411429
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:750841
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:129221
      A2M_N; MG2 domain
      pfam07677
      Location:15691659
      A2M_recep; A-macroglobulin receptor
      pfam07703
      Location:455626
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:9911086
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
      cl26464
      Location:16401844
      Atrophin-1; Atrophin-1 family

    RNA

    1. NR_147452.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a downstream promoter compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF.
      Source sequence(s)
      AC008737, AY101765, DA368557
      Related
      ENST00000594249.6
    2. NR_165644.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      AC020908
      Related
      ENST00000291440.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      16892951..17026810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527917.2XP_011526219.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17471779
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11761464
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:785876
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:164256
      A2M_N; MG2 domain
      pfam07677
      Location:16041694
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12171466
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:492660
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10201121
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    2. XM_047438612.1XP_047294568.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X5

    3. XM_011527922.2XP_011526224.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

      See identical proteins and their annotated locations for XP_011526224.1

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    4. XM_011527921.4XP_011526223.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

      See identical proteins and their annotated locations for XP_011526223.1

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    5. XM_011527924.3XP_011526226.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

      See identical proteins and their annotated locations for XP_011526226.1

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    6. XM_011527918.2XP_011526220.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    7. XM_011527919.2XP_011526221.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      A0A494C0S9
      Related
      ENSP00000498697.2, ENST00000651564.2
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    8. XM_011527920.3XP_011526222.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    9. XM_047438613.1XP_047294569.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X8

    10. XM_047438614.1XP_047294570.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X8

    11. XM_011527925.1XP_011526227.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X9

      Conserved Domains (6) summary
      smart00280
      Location:10161048
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:445733
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:54145
      A2M; Alpha-2-macroglobulin family
      pfam07677
      Location:873963
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:486735
      A2M_comp; A-macroglobulin complement component
      pfam12248
      Location:289390
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    12. XM_011527923.2XP_011526225.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

      See identical proteins and their annotated locations for XP_011526225.1

      UniProtKB/TrEMBL
      A0A494C0S9
      Conserved Domains (8) summary
      smart00280
      Location:17591791
      KAZAL; Kazal type serine protease inhibitors
      cd02897
      Location:11881476
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:797888
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:176268
      A2M_N; MG2 domain
      pfam07677
      Location:16161706
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:12291478
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:504672
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam12248
      Location:10321133
      Methyltransf_FA; Farnesoic acid 0-methyl transferase
    13. XM_017026594.2XP_016882083.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

      UniProtKB/TrEMBL
      A0A494C0S9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17027788..17161726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320552.1XP_054176527.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X1

    2. XM_054320556.1XP_054176531.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X5

    3. XM_054320559.1XP_054176534.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

    4. XM_054320561.1XP_054176536.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

    5. XM_054320558.1XP_054176533.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

    6. XM_054320553.1XP_054176528.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X2

    7. XM_054320554.1XP_054176529.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X3

    8. XM_054320555.1XP_054176530.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X4

    9. XM_054320562.1XP_054176537.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X8

    10. XM_054320563.1XP_054176538.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X9

    11. XM_054320560.1XP_054176535.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

    12. XM_054320557.1XP_054176532.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6