2. Gene
  3. PACS2 - phosphofurin acidic cluster sorting protein 2 Gene

PACS2 - phosphofurin acidic cluster sorting protein 2 Gene

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

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

Gene ID: 23241 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19481529 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09956 PACS2 Human Pre-designed siRNA Set A Pre-designed Sets / 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