Gene Gene information from NCBI Gene database.
Entrez ID 55022
Gene name Phosphotyrosine interaction domain containing 1
Gene symbol PID1
Synonyms (NCBI Gene)
HMFN2073NYGGF4P-CLI1PCLI1
Chromosome 2
Chromosome location 2q36.3
miRNA miRNA information provided by mirtarbase database.
145
miRTarBase ID miRNA Experiments Reference
MIRT1233034 hsa-miR-1271 CLIP-seq
MIRT1233035 hsa-miR-182 CLIP-seq
MIRT1233036 hsa-miR-3065-3p CLIP-seq
MIRT1233037 hsa-miR-3157-5p CLIP-seq
MIRT1233038 hsa-miR-34a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 16815647
GO:0005737 Component Cytoplasm IEA
GO:0006112 Process Energy reserve metabolic process IC 20165904
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612930 26084 ENSG00000153823
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z2X4
Protein name PTB-containing, cubilin and LRP1-interacting protein (P-CLI1) (Phosphotyrosine interaction domain-containing protein 1) (Protein NYGGF4)
Protein function Increases proliferation of preadipocytes without affecting adipocytic differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14719 PID_2 90 247 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in subcutaneous fat, heart, skeletal muscle, brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. {ECO:0000269|PubMed:16815647}.
Sequence
Sequence length 250
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Moyamoya angiopathy Likely pathogenic rs375488219 RCV004704484
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL NEOVASCULARIZATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
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
Adult Medulloblastoma Medulloblastoma BEFREE 24300787, 28400607
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 24300787
★☆☆☆☆
Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor Teratoid Rhabdoid Tumor BEFREE 28400607
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 34341362 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 24300787 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 28400607
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 8732866
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 8732866
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 24300787, 28400607
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 24737086
★☆☆☆☆
Found in Text Mining only