TRAV13-2 (T cell receptor alpha variable 13-2) - Rat Genome Database

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Gene: TRAV13-2 (T cell receptor alpha variable 13-2) Homo sapiens
Analyze
Symbol: TRAV13-2
Name: T cell receptor alpha variable 13-2
RGD ID: 1350924
HGNC Page HGNC:12109
Description: Predicted to enable peptide antigen binding activity. 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: TCRAV13S2; TCRAV8S2; TRAV132
RGD Orthologs
Rat
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
GRCh381421,918,258 - 21,918,756 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,918,188 - 21,918,756 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,386,433 - 22,386,931 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,456,273 - 21,456,771 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,250,006 - 2,250,504 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,504,294 - 2,504,792 (+)NCBIHuRef
CHM1_11422,386,160 - 22,386,658 (+)NCBICHM1_1
T2T-CHM13v2.01416,115,891 - 16,116,389 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References
Additional References at PubMed
PMID:8188290   PMID:21873635  


Genomics

Comparative Map Data
TRAV13-2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381421,918,258 - 21,918,756 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1421,918,188 - 21,918,756 (+)EnsemblGRCh38hg38GRCh38
GRCh371422,386,433 - 22,386,931 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361421,456,273 - 21,456,771 (+)NCBINCBI36Build 36hg18NCBI36
Celera142,250,006 - 2,250,504 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef142,504,294 - 2,504,792 (+)NCBIHuRef
CHM1_11422,386,160 - 22,386,658 (+)NCBICHM1_1
T2T-CHM13v2.01416,115,891 - 16,116,389 (+)NCBIT2T-CHM13v2.0
Trav13-1l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81528,181,203 - 28,181,905 (+)NCBIGRCr8
mRatBN7.21525,707,729 - 25,708,431 (+)NCBImRatBN7.2mRatBN7.2
Rnor_6.01531,709,631 - 31,710,335 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01535,524,044 - 35,524,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41529,494,499 - 29,495,201 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic Map15p14NCBI


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(chr14:21854413-22495939)x1 copy number loss See cases [RCV000135900] Chr14:21854413..22495939 [GRCh38]
Chr14:22322590..22964922 [GRCh37]
Chr14:21392430..22034762 [NCBI36]
Chr14:14q11.2
benign
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:102
Count of miRNA genes:102
Interacting mature miRNAs:102
Transcripts:ENST00000390439
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 pharyngeal arch
High
Medium 3 79 4 120 2 1 2
Low 423 732 267 117 1082 96 199 36 89 113 348 555 23 193 99 2
Below cutoff 742 564 568 239 161 166 1084 317 866 108 525 497 76 528 590

Sequence


RefSeq Acc Id: ENST00000390439   ⟹   ENSP00000438480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1421,918,188 - 21,918,756 (+)Ensembl
Protein Sequences
GenBank Protein A0A0B4J235 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000438480.1
RefSeq Acc Id: ENSP00000438480   ⟸   ENST00000390439
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0B4J235-F1-model_v2 AlphaFold A0A0B4J235 1-113 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12109 AgrOrtholog
COSMIC TRAV13-2 COSMIC
Ensembl Genes ENSG00000211791 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390439.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211791 GTEx
HGNC ID HGNC:12109 ENTREZGENE
Human Proteome Map TRAV13-2 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 TRAV13-2 ENTREZGENE
PANTHER IG-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  T CELL RECEPTOR ALPHA VARIABLE 1-2 UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA36791 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGv UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt A0A0B4J235 ENTREZGENE, UniProtKB/Swiss-Prot