TRAV8-3 (T cell receptor alpha variable 8-3) - Rat Genome Database

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Gene: TRAV8-3 (T cell receptor alpha variable 8-3) Homo sapiens
Analyze
Symbol: TRAV8-3
Name: T cell receptor alpha variable 8-3
RGD ID: 1344365
HGNC Page HGNC:12148
Description: Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex.
Type: gene (Ensembl: TR_V_gene)
RefSeq Status: REVIEWED
Previously known as: TCRAV1S4; TCRAV8S3; TRAV83
RGD Orthologs
Mouse
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381421,852,558 - 21,853,006 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,852,558 - 21,853,006 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,320,735 - 22,321,183 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,390,575 - 21,391,023 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,184,310 - 2,184,758 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,438,650 - 2,439,098 (+)NCBIHuRef
CHM1_11422,320,460 - 22,320,908 (+)NCBICHM1_1
T2T-CHM13v2.01416,050,191 - 16,050,639 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
methotrexate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2971534   PMID:8188290  


Genomics

Comparative Map Data
TRAV8-3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381421,852,558 - 21,853,006 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,852,558 - 21,853,006 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,320,735 - 22,321,183 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,390,575 - 21,391,023 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,184,310 - 2,184,758 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,438,650 - 2,439,098 (+)NCBIHuRef
CHM1_11422,320,460 - 22,320,908 (+)NCBICHM1_1
T2T-CHM13v2.01416,050,191 - 16,050,639 (+)NCBIT2T-CHM13v2.0
Trav9-1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391453,725,563 - 53,726,024 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1453,725,502 - 53,726,024 (+)EnsemblGRCm39 Ensembl
GRCm381453,488,106 - 53,488,567 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1453,488,045 - 53,488,567 (+)EnsemblGRCm38mm10GRCm38
MGSCv371454,107,781 - 54,108,242 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Cytogenetic Map14C2NCBI
cM Map1427.39NCBI


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3 copy number gain See cases [RCV000140829] Chr14:21010790..22951814 [GRCh38]
Chr14:21478949..23421023 [GRCh37]
Chr14:20548789..22490863 [NCBI36]
Chr14:14q11.2		 uncertain significance
GRCh38/hg38 14q11.2(chr14:21830995-22324997)x3 copy number gain See cases [RCV000142945] Chr14:21830995..22324997 [GRCh38]
Chr14:22299151..22793429 [GRCh37]
Chr14:21368991..21863269 [NCBI36]
Chr14:14q11.2		 pathogenic|likely benign
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 copy number loss See cases [RCV000051483] Chr14:19755249..22741281 [GRCh38]
Chr14:20223408..23210490 [GRCh37]
Chr14:19293248..22280330 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 copy number gain See cases [RCV000050914] Chr14:20151149..23442195 [GRCh38]
Chr14:20619308..23911404 [GRCh37]
Chr14:19689148..22981244 [NCBI36]
Chr14:14q11.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:233
Count of miRNA genes:224
Interacting mature miRNAs:233
Transcripts:ENST00000390435
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 entire extraembryonic component
High
Medium 26 103 11 2 191 2 2 1 5 8 9 1
Low 560 810 486 176 1046 135 668 72 334 157 667 856 42 427 311
Below cutoff 855 749 617 254 145 159 1529 530 1196 117 366 403 96 499 890 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390435   ⟹   ENSP00000440087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1421,852,558 - 21,853,006 (+)Ensembl
Protein Sequences
GenBank Protein A0A0A6YYJ7 (Get FASTA)   NCBI Sequence Viewer  
  AAA60655 (Get FASTA)   NCBI Sequence Viewer  
  AAB69008 (Get FASTA)   NCBI Sequence Viewer  
  CAA41572 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000440087.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000440087   ⟸   ENST00000390435
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0A6YYJ7-F1-model_v2 AlphaFold A0A0A6YYJ7 1-113 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12148 AgrOrtholog
COSMIC TRAV8-3 COSMIC
Ensembl Genes ENSG00000211787 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390435.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211787 GTEx
HGNC ID HGNC:12148 ENTREZGENE
Human Proteome Map TRAV8-3 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 TRAV8-3 ENTREZGENE
PANTHER T CELL RECEPTOR ALPHA VARIABLE 8-3 UniProtKB/Swiss-Prot
  T-CELL RECEPTOR ALPHA CHAIN V REGION UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA36830 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGv UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt A0A0A6YYJ7 ENTREZGENE, UniProtKB/Swiss-Prot