TRBV6-2 (T cell receptor beta variable 6-2) - Rat Genome Database

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Pathways
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Gene: TRBV6-2 (T cell receptor beta variable 6-2) Homo sapiens
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Symbol: TRBV6-2
Name: T cell receptor beta variable 6-2
RGD ID: 1347964
HGNC Page HGNC:12227
Description: Predicted to be involved in cell surface receptor signaling pathway. Predicted to be located in membrane. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane.
Type: gene (Ensembl: TR_V_gene)
RefSeq Status: VALIDATED
Previously known as: T cell receptor beta variable 6-2 (gene/pseudogene); TCRBV13S2; TCRBV13S2A1T; TCRBV6S2; TRBV62
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: only annotated on alternate loci in reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387142,349,232 - 142,349,664 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,349,152 - 142,349,664 (+)EnsemblGRCh38hg38GRCh38
Build 367141,695,655 - 141,696,087 (+)NCBINCBI36Build 36hg18NCBI36
Celera7136,826,514 - 136,826,946 (+)NCBICelera
Cytogenetic Map7q34NCBI
CHM1_17141,983,204 - 141,983,636 (+)NCBICHM1_1
T2T-CHM13v2.07143,664,288 - 143,664,720 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References
Additional References at PubMed
PMID:1660526   PMID:8650574   PMID:22627740  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 7q34(chr7:141937588-142486548)x3 copy number gain See cases [RCV000143759] Chr7:141937588..142486548 [GRCh37]
Chr7:141584062..142186550 [NCBI36]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 7 182 1 203 3
Low 320 713 197 32 871 12 288 29 100 14 139 505 20 266 144
Below cutoff 649 576 525 168 91 102 1087 336 653 39 457 412 66 520 617

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000634383   ⟹   ENSP00000488969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,349,152 - 142,349,664 (+)Ensembl
Protein Sequences
GenBank Protein AAC13346 (Get FASTA)   NCBI Sequence Viewer  
  AAC80202 (Get FASTA)   NCBI Sequence Viewer  
  CAA43685 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000488603.1
  ENSP00000488969.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000488969   ⟸   ENST00000634383
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0J9YXY3-F1-model_v2 AlphaFold A0A0J9YXY3 1-114 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC TRBV6-2 COSMIC
Ensembl Genes ENSG00000282719 UniProtKB/Swiss-Prot
  ENSG00000283063 Ensembl, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000632016.1 UniProtKB/Swiss-Prot
  ENST00000634383.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000282719 GTEx
  ENSG00000283063 GTEx
HGNC ID HGNC:12227 ENTREZGENE
Human Proteome Map TRBV6-2 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
NCBI Gene TRBV6-2 ENTREZGENE
PANTHER T CELL RECEPTOR BETA VARIABLE 6-2-RELATED UniProtKB/Swiss-Prot
  T-CELL RECEPTOR BETA CHAIN UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA36907 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt TVB62_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A588 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 TRBV6-2  T cell receptor beta variable 6-2  TRBV6-2  T cell receptor beta variable 6-2 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2016-04-12 TRBV6-2  T cell receptor beta variable 6-2 (gene/pseudogene)    T cell receptor beta variable 6-2  Symbol and/or name change 5135510 APPROVED