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

Homo sapiens

Also known as VIP; ASGD8; K-CAP

Gene ID: 27151 | Gene type: protein coding

About CPAMD8

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,892,951-17,026,810 (from NCBI)

This gene has 20 transcripts (splice variants), 192 orthologues, 8 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 10.3), prostate (RPKM 7.9) and 12 other tissues.

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]

CPAMD8 Products(1)

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

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in eye development	IMP IMP: Inferred from mutant phenotype	27839872	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CPAMD8 Protein Structure

A2M_N

A2M_N_2

A2M

Methyltransf_FA

Thiol-ester_cl

A2M_comp

A2M_recep

Kazal_2

0
300
600
900
1200
1500
1800
1932 a.a.

Protein Preferred Names

Protein Names

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

alpha-2 macroglobulin family protein VIP

Related Diseases

Diseases

Alias

Anterior Segment Dysgenesis 8

ASGD8

Autosomal Recessive Anterior Segment Dysgenesis

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Anterior Segment Dysgenesis 1

Anterior Segment Mesenchymal Dysgenesis	Anterior Segment Dysgenesis 1, Multiple Subtypes
ASGD1	Asmd
Anterior Segment Ocular Dysgenesis	Asod
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Ocular Anterior Segment Dysgenesis
Dysgenesis, Anterior Segment, Type 1	Axenfeld-Rieger Syndrome, Type 3
Irido-Corneal Dysgenesis

Morgagni Cataract

Hypermature Cataract

Morgagnian Cataract

Retinitis Pigmentosa 66

RP66	Retinitis Pigmentosa, Type 66

Primary Congenital Glaucoma

Lens Subluxation

Subluxation Of Lens

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome	11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
11p Deletion Syndrome	Chromosome 11p Deletion Syndrome
Wagr Complex	Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
Deletion 11p13	WAGR
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	Chromosome 11p Deletion
11p Deletion	11p Monosomy
Deletion 11p	Monosomy 11p
Partial Monosomy 11p	Agr Triad
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wagr Contiguous Gene Syndrome	Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome	Del(11)(P13)
Monosomy 11p13	Chromosome 11, Deletion 11p

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03086	CPAMD8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CPAMD8	VGNC	VGNC:39548
Bos taurus	CPAMD8	VGNC	VGNC:27644
Macaca mulatta	CPAMD8	VGNC	VGNC:71470
Rattus norvegicus	CPAMD8	RGD	RGD:1566313
Felis catus	CPAMD8	VGNC	VGNC:78413

Name
Email *

	Sorry, but the email address you supplied was invalid.