PTCRA (pre T cell antigen receptor alpha)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 171558
Gene name Pre T cell antigen receptor alpha
Gene symbol PTCRA
Synonyms (NCBI Gene)
IMD126PT-ALPHAPTA
Chromosome 6
Chromosome location 6p21.1
Summary The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell developme
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22795130
GO:0005886 Component Plasma membrane IDA 38422122
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0046632 Process Alpha-beta T cell differentiation IMP 38422122
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606817 21290 ENSG00000171611
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ISU1
Protein name Pre T-cell antigen receptor alpha (pT-alpha) (pTa) (pT-alpha-TCR)
Protein function Component of the pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) that has a crucial role in early T-cell development, particularly alpha-beta T cell differentiation.
PDB 3OF6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15028 PTCRA 20 → 146 Pre-T-cell antigen receptor Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in immature but not mature T-cells. Also found in CD34+ cells from peripheral blood, CD34+ precursors from umbilical cord blood and adult bone marrow. {ECO:0000269|PubMed:8618853, ECO:0000269|PubMed:8760805}.
Sequence 
MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSP
IWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRST
QPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLP
SPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYL
SSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
Sequence length 281
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Notch signaling pathway
Transcriptional misregulation in cancer 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
CORONARY ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 126 — HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (35)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 16857994
★★★★★
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia BEFREE 30465440
★★★★★
★☆☆☆☆
Found in Text Mining only
Auditory neuropathy spectrum disorder Auditory neuropathy BEFREE 28688553
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 3486671
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 29956579
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28683901
★★★★★
★☆☆☆☆
Found in Text Mining only
Color Blindness, Red-Green Color blindness BEFREE 29754850
★★★★★
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 20667457
★★★★★
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 31772254
★★★★★
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 20207019
★★★★★
★☆☆☆☆
Found in Text Mining only