TRAC (T cell receptor alpha constant)

Gene

• Entrez ID: 28755
• Gene name: T cell receptor alpha constant
• Gene symbol: TRAC
• Synonyms (NCBI Gene): IMD7, TCRA, TRA, TRCA
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	NAS	29789755
GO:0002376	Process	Immune system process	IEA
GO:0005886	Component	Plasma membrane	IDA	31461748
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0009617	Process	Response to bacterium	IBA
GO:0016020	Component	Membrane	IEA
GO:0042101	Component	T cell receptor complex	IEA
GO:0042105	Component	Alpha-beta T cell receptor complex	IPI	31461748
GO:0042105	Component	Alpha-beta T cell receptor complex	ISS
GO:0046631	Process	Alpha-beta T cell activation	NAS	29789755
GO:0050852	Process	T cell receptor signaling pathway	NAS	29789755

Other IDs

• MIM: 186880
• HGNC: 12029
• e!Ensembl: ENSG00000277734

Protein

• UniProt ID: P01848
• Protein name: T cell receptor alpha chain constant
• Protein function: Constant region of T cell receptor (TR) alpha chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-
• PDB: 1AO7, 1BD2, 1FYT, 1J8H, 1KGC, 1MI5, 1OGA, 1QRN, 1QSF, 1YMM, 1ZGL, 2AK4, 2BNQ, 2BNR, 2BNU, 2CDF, 2CDG, 2ESV, 2EYR, 2EYS, 2EYT, 2F53, 2F54, 2GJ6, 2IAL, 2IAM, 2IAN, 2NX5, 2P5E, 2P5W, 2PO6, 2PYE, 2PYF, 2VLJ, 2VLK, 2VLM, 2VLR, 2XN9, 2XNA, 3ARB, 3ARD, 3ARE, 3ARF, 3ARG, 3D39, 3DX9, 3DXA, 3FFC, 3GSN, 3HE7, 3HG1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09291	DUF1968	6 → 90		Domain

• Sequence:

  IQNPDPAVYQLRDSKSSDKSVCLFTDFDSQTNVSQSKDSDVYITDKTVLDMRSMDFKSNS
  AVAWSNKSDFACANAFNNSIIPEDTFFPSPESSCDVKLVEKSFETDTNLNFQNLSVIGFR
  ILLLKVAGFNLLMTLRLWSS

• Sequence length: 140

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
TCR-alpha-beta-positive T-cell deficiency	Pathogenic	rs397514259	RCV000054556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Anemia Sickle Cell	Associate	30082871	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	34763648	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Associate	19470682	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	2788889	★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Associate	40114033	★☆☆☆☆ Found in Text Mining only