TRAV4 (T cell receptor alpha variable 4) - Rat Genome Database

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Gene: TRAV4 (T cell receptor alpha variable 4) Homo sapiens
Analyze
Symbol: TRAV4
Name: T cell receptor alpha variable 4
RGD ID: 1349042
HGNC Page HGNC:12140
Description: Predicted to be involved in response to bacterium. 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: TCRAV20S1; TCRAV4S1
RGD Orthologs
Mouse
Alliance Orthologs
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
GRCh381421,736,219 - 21,736,982 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,736,152 - 21,736,982 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,204,501 - 22,205,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,274,341 - 21,275,104 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,068,045 - 2,068,808 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,322,378 - 2,323,141 (+)NCBIHuRef
CHM1_11422,204,121 - 22,204,884 (+)NCBICHM1_1
T2T-CHM13v2.01415,933,947 - 15,934,710 (+)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:8188290   PMID:21873635   PMID:23657505  


Genomics

Comparative Map Data
TRAV4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381421,736,219 - 21,736,982 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,736,152 - 21,736,982 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,204,501 - 22,205,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,274,341 - 21,275,104 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,068,045 - 2,068,808 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,322,378 - 2,323,141 (+)NCBIHuRef
CHM1_11422,204,121 - 22,204,884 (+)NCBICHM1_1
T2T-CHM13v2.01415,933,947 - 15,934,710 (+)NCBIT2T-CHM13v2.0
Trav2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391452,804,750 - 52,805,510 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1452,804,655 - 52,805,508 (+)EnsemblGRCm39 Ensembl
GRCm381452,567,293 - 52,568,053 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1452,567,198 - 52,568,051 (+)EnsemblGRCm38mm10GRCm38
MGSCv371453,186,968 - 53,187,728 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1449,556,901 - 49,557,752 (+)NCBICelera
Cytogenetic Map14C2NCBI
cM Map1427.0NCBI


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 14q11.2-32.33(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:181
Count of miRNA genes:178
Interacting mature miRNAs:181
Transcripts:ENST00000390426
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 pharyngeal arch
High
Medium 12 119 9 1 184 1 1 3 1 2 3 6
Low 510 793 425 161 1039 127 387 56 129 142 372 756 34 328 190 2
Below cutoff 756 673 624 239 110 164 1323 415 723 97 533 423 75 526 724 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390426   ⟹   ENSP00000451535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1421,736,152 - 21,736,982 (+)Ensembl
Protein Sequences
GenBank Protein A0A0B4J268 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000451535.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000451535   ⟸   ENST00000390426
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0B4J268-F1-model_v2 AlphaFold A0A0B4J268 1-109 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12140 AgrOrtholog
COSMIC TRAV4 COSMIC
Ensembl Genes ENSG00000211778 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390426.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211778 GTEx
HGNC ID HGNC:12140 ENTREZGENE
Human Proteome Map TRAV4 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 TRAV4 ENTREZGENE
PANTHER T CELL RECEPTOR ALPHA VARIABLE 4 UniProtKB/Swiss-Prot
  T-CELL RECEPTOR ALPHA CHAIN V REGION-RELATED UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA36822 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGv UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt A0A0B4J268 ENTREZGENE, UniProtKB/Swiss-Prot