Gene Gene information from NCBI Gene database.
Entrez ID 23241
Gene name Phosphofurin acidic cluster sorting protein 2
Gene symbol PACS2
Synonyms (NCBI Gene)
DEE66EIEE66PACS-2PACS1L
Chromosome 14
Chromosome location 14q32.33
SNPs SNP information provided by dbSNP.
1
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.
900
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610423 23794 ENSG00000179364
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 1 Likely pathogenic; Pathogenic rs1555408401 RCV001813790
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 66 Likely pathogenic; Pathogenic rs1555408401 RCV000677126
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs1555408401 RCV000585789
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PACS2-related disorder Likely pathogenic; Pathogenic rs1555408401 RCV004752955
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 30970236
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30970236
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 29656858 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar diseases Pubtator 29656858 Associate
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 29312533
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29312533
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of face Facial dysmorphism BEFREE 30684285
★☆☆☆☆
Found in Text Mining only