TRAV6 (T cell receptor alpha variable 6) - Rat Genome Database

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Gene: TRAV6 (T cell receptor alpha variable 6) Homo sapiens
Analyze
No known orthologs.
Symbol: TRAV6
Name: T cell receptor alpha variable 6
RGD ID: 1347077
HGNC Page HGNC:12144
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: TCRAV5S1; TCRAV6S1
RGD Orthologs
Alliance Genes
More Info homologs ...
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
GRCh381421,768,553 - 21,769,080 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,768,489 - 21,769,080 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,236,793 - 22,237,320 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,306,633 - 21,307,160 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,100,332 - 2,100,859 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,354,663 - 2,355,190 (+)NCBIHuRef
CHM1_11422,236,455 - 22,236,982 (+)NCBICHM1_1
T2T-CHM13v2.01415,966,231 - 15,966,758 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:8188290   PMID:8530018   PMID:21873635  


Genomics


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:262
Count of miRNA genes:246
Interacting mature miRNAs:261
Transcripts:ENST00000390428
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.

Markers in Region
GDB:642127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371422,237,067 - 22,237,310UniSTSGRCh37
Build 361421,306,907 - 21,307,150RGDNCBI36
Celera142,100,606 - 2,100,849RGD
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q11UniSTS
HuRef142,354,937 - 2,355,180UniSTS


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 15 3 40 15 3 3
Low 222 560 147 52 901 45 64 16 22 66 111 300 5 66 26 2
Below cutoff 562 522 409 175 311 119 782 191 367 114 372 530 59 434 402 1

Sequence


RefSeq Acc Id: ENST00000390428   ⟹   ENSP00000438290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1421,768,489 - 21,769,080 (+)Ensembl
Protein Sequences
GenBank Protein A0A075B6T7 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000438290.1
RefSeq Acc Id: ENSP00000438290   ⟸   ENST00000390428
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A075B6T7-F1-model_v2 AlphaFold A0A075B6T7 1-132 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12144 AgrOrtholog
COSMIC TRAV6 COSMIC
Ensembl Genes ENSG00000211780 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390428.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211780 GTEx
HGNC ID HGNC:12144 ENTREZGENE
Human Proteome Map TRAV6 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 TRAV6 ENTREZGENE
PANTHER T CELL RECEPTOR ALPHA VARIABLE 1-2 UniProtKB/Swiss-Prot
  T CELL RECEPTOR ALPHA VARIABLE 21 UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA36826 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGv UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt A0A075B6T7 ENTREZGENE, UniProtKB/Swiss-Prot