Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23241
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphofurin acidic cluster sorting protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PACS2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE66, EIEE66, PACS-2, PACS1L
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1555408401 G>A Pathogenic, likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023894 hsa-miR-1-3p Microarray 18668037
MIRT051538 hsa-let-7e-5p CLASH 23622248
MIRT046818 hsa-miR-222-3p CLASH 23622248
MIRT701176 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT701175 hsa-miR-6893-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 23455425
GO:0005515 Function Protein binding IPI 19481529, 28514442, 29656858, 33961781, 34642815
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005783 Component Endoplasmic reticulum IDA 15692563
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610423 23794 ENSG00000179364
Protein
UniProt ID Q86VP3
Protein name Phosphofurin acidic cluster sorting protein 2 (PACS-2) (PACS1-like protein)
Protein function Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptotic inducer, translocates BIB to
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10254 Pacs-1 473 885 PACS-1 cytosolic sorting protein Family
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas and testis. {ECO:0000269|PubMed:15692567}.
Sequence
MAERGRLGLPGAPGALNTPVPMNLFATWEVDGSSPSCVPRLCSLTLKKLVVFKELEKELI
SVVIAVKMQGSKRILRSHEIVLPPSGQVETDLALTFSLQYPHFLKREGNKLQIMLQRRKR
YKNRTILGYKTLAAGSISMAEVMQHPSEGGQVLSLCSSIKEAPVKAAEIWIASLSSQPID
HEDSTMQAGPKAKSTDNYSEEEYESFSSEQEASDDAVQGQDLDEDDFDVGKPKKQRRSIV
RTTSMTRQQNFKQKVVALLRRFKVSDEVLDSEQDPAEHIPEAEEDLDLLYDTLDMEHPSD
SGPDMEDDDSVLSTPKPKLRPYFEGLSHSSSQTEIGSIHSARSHKEPPSPADVPEKTRSL
GGRQPSDSVSDTVALGVPGPREHPGQPEDSPEAEASTLDVFTERLPPSGRITKTESLVIP
STRSEGKQAGRRGRSTSLKERQAARPQNERANSLDNERCPDARSQLQIPRKTVYDQLNHI
LISDDQLPENIILVNTSDWQGQFLSDVLQRHTLPVVCTCSPADVQAAFSTIVSRIQRYCN
CNSQPPTPVKIAVAGAQHYLSAILRLFVEQLSHKTPDWLGYMRFLVIPLGSHPVARYLGS
VDYRYNNFFQDLAWRDLFNKLEAQSAVQDTPDIVSRITQYIAGANCAHQLPIAEAMLTYK
QKSPDEESSQKFIPFVGVVKVGIVEPSSATSGDSDDAAPSGSGTLSSTPPSASPAAKEAS
PTPPSSPSVSGGLSSPSQGVGAELMGLQVDYWTAAQPADRKRDAEKKDLPVTKNTLKCTF
RSLQVSRLPSSGEAAATPTMSMTVVTKEKNKKVMFLPKKAKDKDVESKSQCIEGISRLIC
TARQQQNMLRVLIDGVECSDVKFFQLAAQWSSHVKHFPICIFGHS
KATF
Sequence length 889
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy, 66 rs1555408401 N/A
Mental retardation intellectual disability rs1555408401 N/A
seizure Seizure rs1555408401 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aprosencephaly and Cerebellar Dysgenesis Associate 29656858
Brain Diseases Associate 29656858
Cerebellar Diseases Associate 29656858
Diabetic Nephropathies Associate 33679616
Epilepsies Partial Associate 29656858
Epilepsy Associate 29656858
Epileptic Encephalopathy Early Infantile 3 Associate 29656858
Facial Dysmorphism with Multiple Malformations Associate 29656858
Facial Neoplasms Associate 29656858
Kidney Diseases Associate 33679616