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

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: all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Title: Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Title: Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Title: CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
study delineates a unique form of recessive anterior segment dysgeneses (ASD) and defines a role for CPAMD8, a protein of unknown function, in anterior segment development, implying another pathway for the pathogenicity of ASD
Title: Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
a novel member of the complement 3/alpha(2)-macroglobulin (C3/alpha(2)M) family named CPAMD8 has been identified and characterized.
Title: Identification and characterization of CPAMD8, a novel member of the complement 3/alpha2-macroglobulin family with a C-terminal Kazal domain.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1425 (e-PCR)
- UniSTS:149621

F2RL3_2451 (e-PCR)
- UniSTS:471428

G29028 (e-PCR)
- UniSTS:34455

D7S2816 (e-PCR)
- UniSTS:27629

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

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

Names: alpha-2 macroglobulin family protein VIP

NCBI Reference Sequences (RefSeq)

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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

NG_054892.1 RefSeqGene

Range

5009..138868

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015692.5 → NP_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:1712 → 1744

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1141 → 1429

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:750 → 841

A2M; Alpha-2-macroglobulin family

pfam01835
Location:129 → 221

A2M_N; MG2 domain

pfam07677
Location:1569 → 1659

A2M_recep; A-macroglobulin receptor

pfam07703
Location:455 → 626

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:991 → 1086

Methyltransf_FA; Farnesoic acid 0-methyl transferase

cl26464
Location:1640 → 1844

Atrophin-1; Atrophin-1 family

RNA

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
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

16892951..17026810 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A494C0S9

Conserved Domains (8) summary

smart00280
Location:1747 → 1779

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1176 → 1464

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:785 → 876

A2M; Alpha-2-macroglobulin family

pfam01835
Location:164 → 256

A2M_N; MG2 domain

pfam07677
Location:1604 → 1694

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1217 → 1466

A2M_comp; A-macroglobulin complement component

pfam07703
Location:492 → 660

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1020 → 1121

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_047438612.1 → XP_047294568.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X5

UniProtKB/TrEMBL

A0A494C0S9
XM_011527922.2 → XP_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:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_011527921.4 → XP_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:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_011527924.3 → XP_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:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_011527918.2 → XP_011526220.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X2

UniProtKB/TrEMBL

A0A494C0S9

Conserved Domains (8) summary

smart00280
Location:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_011527919.2 → XP_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:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_011527920.3 → XP_011526222.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X4

UniProtKB/TrEMBL

A0A494C0S9

Conserved Domains (8) summary

smart00280
Location:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_047438613.1 → XP_047294569.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X8

UniProtKB/TrEMBL

A0A494C0S9
XM_047438614.1 → XP_047294570.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X8

UniProtKB/TrEMBL

A0A494C0S9
XM_011527925.1 → XP_011526227.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X9

Conserved Domains (6) summary

smart00280
Location:1016 → 1048

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:445 → 733

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:54 → 145

A2M; Alpha-2-macroglobulin family

pfam07677
Location:873 → 963

A2M_recep; A-macroglobulin receptor

pfam07678
Location:486 → 735

A2M_comp; A-macroglobulin complement component

pfam12248
Location:289 → 390

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_011527923.2 → XP_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:1759 → 1791

KAZAL; Kazal type serine protease inhibitors

cd02897
Location:1188 → 1476

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:797 → 888

A2M; Alpha-2-macroglobulin family

pfam01835
Location:176 → 268

A2M_N; MG2 domain

pfam07677
Location:1616 → 1706

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1229 → 1478

A2M_comp; A-macroglobulin complement component

pfam07703
Location:504 → 672

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

pfam12248
Location:1032 → 1133

Methyltransf_FA; Farnesoic acid 0-methyl transferase
XM_017026594.2 → XP_016882083.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

UniProtKB/TrEMBL

A0A494C0S9

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

17027788..17161726 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A494C0S9
XM_054320556.1 → XP_054176531.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X5

UniProtKB/TrEMBL

A0A494C0S9
XM_054320559.1 → XP_054176534.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

UniProtKB/TrEMBL

A0A494C0S9
XM_054320561.1 → XP_054176536.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

UniProtKB/TrEMBL

A0A494C0S9
XM_054320558.1 → XP_054176533.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

UniProtKB/TrEMBL

A0A494C0S9
XM_054320553.1 → XP_054176528.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X2

UniProtKB/TrEMBL

A0A494C0S9
XM_054320554.1 → XP_054176529.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X3

UniProtKB/TrEMBL

A0A494C0S9
XM_054320555.1 → XP_054176530.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X4

UniProtKB/TrEMBL

A0A494C0S9
XM_054320562.1 → XP_054176537.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X8

UniProtKB/TrEMBL

A0A494C0S9
XM_054320563.1 → XP_054176538.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X9
XM_054320560.1 → XP_054176535.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

UniProtKB/TrEMBL

A0A494C0S9
XM_054320557.1 → XP_054176532.1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

UniProtKB/TrEMBL

A0A494C0S9