MFAP3 - microfibril associated protein 3 Gene

Homo sapiens

Gene ID: 4238 | Gene type: protein coding

About MFAP3

Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,038,967-154,057,450 (from NCBI)

This gene has 14 transcripts (splice variants), 187 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 9.1), urinary bladder (RPKM 9.1) and 25 other tissues.

Summary

Predicted to be located in extracellular region. Predicted to be active in cytoplasm; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

MFAP3 Products(3)

mRNA	Protein	Name
NM_001135037.2	NP_001128509.1	microfibril-associated glycoprotein 3 isoform 2
NM_001242336.2	NP_001229265.1	microfibril-associated glycoprotein 3 isoform 1 precursor
NM_005927.5	NP_005918.1	microfibril-associated glycoprotein 3 isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

MFAP3 Protein Structure

I-set

0
100
200
300
362 a.a.

Protein Preferred Names

Protein Names

microfibril-associated glycoprotein 3

microfibrillar associated protein 3

MFAP3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MFAP3	P55082	GRIP1	Homo sapiens	Q9Y3R0-3	Validated Y2H	32296183
Intra	MFAP3	P55082	GRIP1	Homo sapiens	Q9Y3R0-3	Y2H Array	32296183
Intra	MFAP3	P55082	GRIP1	Homo sapiens	Q9Y3R0-3	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MFAP3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77085	MFAP3 Protein, Human (HEK293, Fc)	P55082-1 (A19-M147)	≥95%

Related Diseases

Diseases

Alias

Lutembacher'S Syndrome

Lutembacher Syndrome

Lutembacher'S Anomaly

Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly	Beals Syndrome
CCA	Beals-Hecht Syndrome
Distal Arthrogryposis Type 9	Arthrogryposis, Distal, Type 9
Da9	Arachnodactyly, Contractural Beals Type
Contractures, Multiple With Arachnodactyly	Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis
Arthrogyroposis, Distal, Type 9	Distal Arthrogyropsis Type 9
Cca Syndrome	Arachnodactyly

Yellow Nail Syndrome

Yns	Lymphedema And Yellow Nails
Lymphedema With Yellow Nails	Lymphedema-Yellow Nails
LYYN	Hereditary Lymphedema And Yellow Nails
Hereditary Lymphoedema And Yellow Nails

Isolated Ectopia Lentis

Familial Ectopia Lentis	Ectopia Lentis
Ectopia Lentis Syndrome	Lens Subluxation
Iel	Congenital Ectopia Lentis
Subluxation Of Lens	Ectopia Lentis, Isolated
Ectopia Lentis Isolated

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-RS08377	MFAP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MFAP3	VGNC	VGNC:68240
Bos taurus	MFAP3	VGNC	VGNC:50216
Macaca mulatta	MFAP3	VGNC	VGNC:74709
Rattus norvegicus	MFAP3	RGD	RGD:1359463
Canis familiaris	MFAP3	VGNC	VGNC:43188
Mus musculus	MFAP3	MGD	MGI:1924068
Others	MFAP3	NCBI

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