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

Also Known as SDPII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11252

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

PACSIN2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PACSIN2 Q9UNF0 PBX4 Homo sapiens Q9BYU1 32296183
Intra
PACSIN2 Q9UNF0 PBX4 Homo sapiens Q9BYU1 32296183
Intra
PACSIN2 Q9UNF0 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
PACSIN2 Q9UNF0 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
PACSIN2 Q9UNF0 GSC2 Homo sapiens O15499 32296183
Intra
PACSIN2 Q9UNF0 GSC2 Homo sapiens O15499 32296183
Intra
PACSIN2 Q9UNF0 COBL Homo sapiens O75128 35271311
Intra
PACSIN2 Q9UNF0 COBL Homo sapiens O75128 33961781
Intra
PACSIN2 Q9UNF0 DNM2 Homo sapiens P50570 16551695
Intra
PACSIN2 Q9UNF0 FASLG Homo sapiens P48023 16318909
Intra
PACSIN2 Q9UNF0 FASLG Homo sapiens P48023 16318909
Intra
PACSIN2 Q9UNF0 FASLG Homo sapiens P48023 16318909
Intra
PACSIN2 Q9UNF0 TERF1 Homo sapiens P54274 21044950
Intra
PACSIN2 Q9UNF0 PACSIN1 Homo sapiens Q9BY11 32296183
Intra
PACSIN2 Q9UNF0 PACSIN1 Homo sapiens Q9BY11 16189514
Intra
PACSIN2 Q9UNF0 PACSIN1 Homo sapiens Q9BY11 32296183
Intra
PACSIN2 Q9UNF0 PACSIN1 Homo sapiens Q9BY11 33961781
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 32296183
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 25416956
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 32296183
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 16189514
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 20188097
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 31515488
Intra
PACSIN2 Q9UNF0 PACSIN2 Homo sapiens Q9UNF0 32296183
Intra
PACSIN2 Q9UNF0 MEOX2 Homo sapiens P50222 25416956
Intra
PACSIN2 Q9UNF0 MEOX2 Homo sapiens P50222 25416956
Intra
PACSIN2 Q9UNF0 PACSIN3 Homo sapiens Q9UKS6 32296183
Intra
PACSIN2 Q9UNF0 PACSIN3 Homo sapiens Q9UKS6 33961781
Intra
PACSIN2 Q9UNF0 PACSIN3 Homo sapiens Q9UKS6 32296183
Intra
PACSIN2 Q9UNF0 PACSIN3 Homo sapiens Q9UKS6 35271311
Intra
PACSIN2 Q9UNF0 RIC8A Homo sapiens Q9NPQ8-4 32296183
Intra
PACSIN2 Q9UNF0 RIC8A Homo sapiens Q9NPQ8-4 32296183
Intra
PACSIN2 Q9UNF0 WASL Homo sapiens O00401 32296183
Intra
PACSIN2 Q9UNF0 WASL Homo sapiens O00401 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PACSIN2 Proteins

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

PACSIN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810839 Syndapin-2 Antibody (YA10082) WB Human, Mouse

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

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