2. Gene
  3. PACSIN2 - protein kinase C and casein kinase substrate in neurons 2 Gene

PACSIN2 - protein kinase C and casein kinase substrate in neurons 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SDPII

Gene ID: 11252 | Gene type: protein coding

About PACSIN2

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,869,766-43,015,149 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues and 2 paralogues. Ubiquitous expression in adrenal (RPKM 24.2), colon (RPKM 24.1) and 25 other tissues.

Summary

This gene is a member of the protein kinase C and Casein Kinase substrate in neurons family. The encoded protein is involved in linking the actin Cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PACSIN2 Products(10)

mRNA Protein Name
NM_001184970.3 NP_001171899.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform A
NM_001184971.1 NP_001171900.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform B
NM_001349968.1 NP_001336897.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C
NM_001349969.2 NP_001336898.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform D
NM_001349970.2 NP_001336899.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform D
NM_001349971.2 NP_001336900.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C
NM_001349972.1 NP_001336901.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C
NM_001349973.1 NP_001336902.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform C
NM_001349974.2 NP_001336903.1 protein kinase C and casein kinase substrate in neurons protein 2 isoform E
NM_007229.3 NP_009160.2 protein kinase C and casein kinase substrate in neurons protein 2 isoform A
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables phosphatidic acid binding IDA
IDA: Inferred from direct assay
23596323 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in caveola assembly IMP
IMP: Inferred from mutant phenotype
21610094 GOA
involved in caveolin-mediated endocytosis IMP
IMP: Inferred from mutant phenotype
21610094 GOA
involved in plasma membrane tubulation IDA
IDA: Inferred from direct assay
23596323 GOA
involved in protein localization to endosome IMP
IMP: Inferred from mutant phenotype
23596323 GOA
Cellular Component GO Annotation Evidence Reference Source
located in caveola IDA
IDA: Inferred from direct assay
21610094 GOA
located in recycling endosome membrane IDA
IDA: Inferred from direct assay
23596323 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

PACSIN2 Protein Structure

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (16 - 103)

SH3_9

SH3_9: Variant SH3 domain (433 - 483)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 486 a.a.
Protein Preferred Names Protein Names

protein kinase C and casein kinase substrate in neurons protein 2

cytoplasmic phosphoprotein PACSIN2

Recombinant PACSIN2 Proteins

Cat. No. Product Name Accession Purity
HY-P71184 PACSIN2 Protein, Human (HEK293, His) Q9UNF0-1 (M1-Q486) ≥95%

Related Diseases

Diseases Alias
Thiopurines, Poor Metabolism Of, 1

Thiopurine S-Methyltransferase Deficiency

Tpmt Deficiency

Thiopurine Methyltransferase Deficiency

Thiopurine S Methyltranferase Deficiency

THPM1

Tpmtd

Poor Metabolism Of Thiopurines-1

6-Mercaptopurine Sensitivity

Thiopurines, Poor Metabolism Of

Poor Metabolism Of Thiopurines
Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv
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-RS09958 PACSIN2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PACSIN2 RGD RGD:69411
Mus musculus PACSIN2 MGD MGI:1345153
Canis familiaris PACSIN2 VGNC VGNC:44232
Bos taurus PACSIN2 VGNC VGNC:32543
Felis catus PACSIN2 VGNC VGNC:68682
Macaca mulatta PACSIN2 VGNC VGNC:75745
Others PACSIN2 NCBI