PACS2 - phosphofurin acidic cluster sorting protein 2 Gene

Also Known as DEE66; EIEE66; PACS-2; PACS1L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23241

About PACS2

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:105,300,774-105,398,147 (from NCBI)

This gene has 20 transcripts (splice variants), 236 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 15.4), testis (RPKM 10.2) and 25 other tissues.

Summary

Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Apr 2022]

PACS2 Products (3)

mRNA Protein Name
NM_001100913.3 NP_001094383.2 phosphofurin acidic cluster sorting protein 2 isoform 1
NM_001243127.3 NP_001230056.1 phosphofurin acidic cluster sorting protein 2 isoform 3
NM_015197.4 NP_056012.2 phosphofurin acidic cluster sorting protein 2 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19481529 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within autophagosome assembly IDA
IDA: Inferred from direct assay
23455425 GOA
involved in endoplasmic reticulum calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
15692567 GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering IMP
IMP: Inferred from mutant phenotype
15692567 GOA
acts upstream of or within protein localization to phagophore assembly site IDA
IDA: Inferred from direct assay
23455425 GOA
involved in protein localization to plasma membrane IMP
IMP: Inferred from mutant phenotype
15692563 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
15692563 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

PACS2 Protein Structure

Pacs-1

Pacs-1: PACS-1 cytosolic sorting protein (473 - 886)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 889 a.a.
Protein Preferred Names Protein Names

phosphofurin acidic cluster sorting protein 2

  • PACS1-like protein

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 66

  • DEE66

  • Epileptic Encephalopathy, Early Infantile, 66

  • Eiee66

  • Developmental And Epileptic Encephalopathy, 66

  • Early Infantile Epileptic Encephalopathy 66

  • Encephalopathy, Epileptic, Early Infantile, Type 66
Developmental And Epileptic Encephalopathy 1

  • Epileptic Encephalopathy, Early Infantile, 1

  • Infantile Epileptic-Dyskinetic Encephalopathy

  • DEE1

  • Eiee1

  • Issx1

  • Xmesid

  • X-Linked Infantile Spasm Syndrome 1

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

  • Developmental And Epileptic Encephalopathy, 1

  • Infantile Epileptic Dyskinetic Encephalopathy

  • Infantile Spasm Syndrome, X-Linked 1

  • West Syndrome, X-Linked

  • Ohtahara Syndrome, X-Linked

  • Early Infantile Epileptic Encephalopathy 1

  • Early Infantile Epileptic Encephalopathy-1

  • Issx

  • X-Linked Ohtahara Syndrome

  • X-Linked West Syndrome

  • Infantile Spasm Syndrome X-Linked 1

  • Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

  • Ohtahara Syndrome X-Linked

  • West Syndrome X-Linked

  • Encephalopathy, Epileptic, Early Infantile, Type 1
West Syndrome

  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic
Encephalopathy

  • Brain Diseases

  • Encephalopathies

  • Toxic Encephalopathy

  • Toxic Brain Fever

  • Toxic Brain Inflammation

  • Toxic Brain Stem Inflammation

  • Toxic Cerebral Fever

  • Toxic Cerebrospinal Fever

  • Toxic Cerebrospinal Inflammation

  • Encephalopathy Nec

  • Encephalopathy Nos

  • Encephalopathy Disease

  • Encephalopathy Syndrome
Developmental And Epileptic Encephalopathy

  • Encephalopathy, Developmental And Epileptic
Neurooculocardiogenitourinary Syndrome

  • NOCGUS
Schuurs-Hoeijmakers Syndrome

  • SHMS

  • Pacs1-Related Syndrome

  • Mrd17

  • Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

  • Intellectual Developmental Disorder, Autosomal Dominant 17

  • Autosomal Dominant Intellectual Disability-17

  • Autosomal Dominant Mental Retardation 17

  • Pacs1 Syndrome

  • Mental Retardation, Autosomal Dominant 17
Intellectual Developmental Disorder, Autosomal Dominant 13

  • MRD13

  • Mental Retardation, Autosomal Dominant 13

  • Mental Retardation, Autosomal Dominant 13, With Neuronal Migration Defects

  • Autosomal Dominant Non-Syndromic Intellectual Disability 13

  • Autosomal Dominant Intellectual Developmental Disorder 13

  • Autosomal Dominant Mental Retardation 13

  • Mental Retardation, Autosomal Dominant, Type 13
Early Infantile Epileptic Encephalopathy

  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile
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 (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09956 PACS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-182121 Pac-2-amino-dA-CE phosphoramidite / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PACS2 VGNC VGNC:44230
Macaca mulatta PACS2 VGNC VGNC:75671
Rattus norvegicus PACS2 RGD RGD:1597262
Bos taurus PACS2 VGNC VGNC:53946
Mus musculus PACS2 MGD MGI:1924399
Felis catus PACS2 VGNC VGNC:64020
Others PACS2 NCBI