PPFIA2 - PTPRF interacting protein alpha 2 Gene

Homo sapiens

Gene ID: 8499 | Gene type: protein coding

About PPFIA2

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:81,257,975-81,759,350 (from NCBI)

This gene has 28 transcripts (splice variants), 227 orthologues and 5 paralogues. Biased expression in brain (RPKM 7.4), adrenal (RPKM 1.4) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane Protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PPFIA2 Products(10)

mRNA	Protein	Name
NM_001220473.3	NP_001207402.1	liprin-alpha-2 isoform b
NM_001220474.3	NP_001207403.1	liprin-alpha-2 isoform c
NM_001220475.2	NP_001207404.1	liprin-alpha-2 isoform d
NM_001220476.2	NP_001207405.1	liprin-alpha-2 isoform e
NM_001220477.2	NP_001207406.1	liprin-alpha-2 isoform f
NM_001220478.2	NP_001207407.1	liprin-alpha-2 isoform g
NM_001220479.3	NP_001207408.1	liprin-alpha-2 isoform h
NM_001220480.3	NP_001207409.1	liprin-alpha-2 isoform i
NM_001282536.1	NP_001269465.1	liprin-alpha-2 isoform j
NM_003625.5	NP_003616.2	liprin-alpha-2 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12923177	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in dense core granule cytoskeletal transport	IMP IMP: Inferred from mutant phenotype	30021165	GOA
involved in regulation of dendritic spine development	IMP IMP: Inferred from mutant phenotype	30021165	GOA
involved in regulation of dendritic spine morphogenesis	IMP IMP: Inferred from mutant phenotype	30021165	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in dendritic spine	IDA IDA: Inferred from direct assay	30021165	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

PPFIA2 Protein Structure

SAM_1

SAM_2

0
200
400
600
800
1000
1257 a.a.

Protein Preferred Names

Protein Names

liprin-alpha-2

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

Related Diseases

Diseases

Alias

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Micpch
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis	Fhl
Familial Erythrophagocytic Lymphohistiocytosis	Hemophagocytic Syndrome
FHL1	Hplh1
Hlh1	Fel
Familial Hemophagocytic Lymphohistiocytosis 1	Primary Hemophagocytic Lymphohistiocytosis
Familial Hlh	Hlh
Familial Hemophagocytic Lymphocytosis	Hemophagocytic Lymphohistiocytosis, Familial
Reticulosis, Familial Histiocytic	Hemophagocytic Reticulosis, Familial
Erythrophagocytic Lymphohistiocytosis, Familial	Familial Histiocytic Reticulosis
Familial Hemophagocytic Histiocytosis	Familial Hemophagocytic Reticulosis
Fhlh	Hplh
Primary Hemophagocytic Hymphohistiocytosis	Genetic Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis	Familial Hemophagocytic Lymphohistiocytosis Type 1

Loeys-Dietz Syndrome 4

LDS4	Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome Type 4	Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations
Loeys-Dietz Syndrome, Type 4

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

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-RS10940	PPFIA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PPFIA2	VGNC	VGNC:44844
Macaca mulatta	PPFIA2	VGNC	VGNC:76235
Mus musculus	PPFIA2	MGD	MGI:2443834
Felis catus	PPFIA2	VGNC	VGNC:81203
Rattus norvegicus	PPFIA2	RGD	RGD:1305021
Bos taurus	PPFIA2	VGNC	VGNC:56228

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