PPFIA2 - PTPRF interacting protein alpha 2 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 8499

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 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
12923177 GOA
Biological Process GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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_1: SAM domain (Sterile alpha motif) (897 - 960)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (1020 - 1082)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1105 - 1173)

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  • 1257 a.a.
Protein Preferred Names Protein Names

liprin-alpha-2

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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10940 PPFIA2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others PPFIA2 NCBI