TRBV12-5 (T cell receptor beta variable 12-5) - Rat Genome Database

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Pathways
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Gene: TRBV12-5 (T cell receptor beta variable 12-5) Homo sapiens
Analyze
Symbol: TRBV12-5
Name: T cell receptor beta variable 12-5
RGD ID: 1347155
HGNC Page HGNC:12187
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: TCRBV12S5; TCRBV8S3; TRBV125
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
GRCh387142,580,981 - 142,581,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,580,917 - 142,581,427 (+)EnsemblGRCh38hg38GRCh38
Build 367141,969,589 - 141,970,035 (+)NCBINCBI36Build 36hg18NCBI36
Celera7137,096,766 - 137,097,212 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,617,134 - 136,617,580 (+)NCBIHuRef
CHM1_17142,214,953 - 142,215,399 (+)NCBICHM1_1
T2T-CHM13v2.07143,937,873 - 143,938,319 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
keratoconus  (IAGP)

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

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Keratoconus  (IAGP)
References
Additional References at PubMed
PMID:3772297   PMID:6402305   PMID:8650574   PMID:21873635  


Genomics

Comparative Map Data
TRBV12-5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387142,580,981 - 142,581,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,580,917 - 142,581,427 (+)EnsemblGRCh38hg38GRCh38
Build 367141,969,589 - 141,970,035 (+)NCBINCBI36Build 36hg18NCBI36
Celera7137,096,766 - 137,097,212 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,617,134 - 136,617,580 (+)NCBIHuRef
CHM1_17142,214,953 - 142,215,399 (+)NCBICHM1_1
T2T-CHM13v2.07143,937,873 - 143,938,319 (+)NCBIT2T-CHM13v2.0
Trbv16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39641,128,725 - 41,129,164 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl641,128,674 - 41,129,164 (+)EnsemblGRCm39 Ensembl
GRCm38641,151,791 - 41,152,230 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl641,151,740 - 41,152,230 (+)EnsemblGRCm38mm10GRCm38
MGSCv37641,101,790 - 41,102,229 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera641,106,449 - 41,106,888 (+)NCBICelera
Cytogenetic Map6B1NCBI
cM Map619.24NCBI

Variants

.
Variants in TRBV12-5
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q34(chr7:142355688-142605368)x1 copy number loss See cases [RCV000136743] Chr7:142355688..142605368 [GRCh38]
Chr7:141723794..141993871 [NCBI36]
Chr7:7q34		 benign
GRCh38/hg38 7q34(chr7:142416934-142605368)x1 copy number loss See cases [RCV000136745] Chr7:142416934..142605368 [GRCh38]
Chr7:141785397..141993871 [NCBI36]
Chr7:7q34		 benign
GRCh38/hg38 7q34(chr7:142237788-142779344)x3 copy number gain See cases [RCV000137716] Chr7:142237788..142779344 [GRCh38]
Chr7:141584064..142187156 [NCBI36]
Chr7:7q34		 likely benign
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q34(chr7:142578930-142753745)x1 copy number loss See cases [RCV000138582] Chr7:142578930..142753745 [GRCh38]
Chr7:141967536..142141170 [NCBI36]
Chr7:7q34		 likely benign
GRCh38/hg38 7q34(chr7:142503036-142753076)x1 copy number loss See cases [RCV000139181] Chr7:142503036..142753076 [GRCh38]
Chr7:141871507..142140501 [NCBI36]
Chr7:7q34		 likely benign
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q34(chr7:142578930-142752607)x3 copy number gain See cases [RCV000139475] Chr7:142578930..142752607 [GRCh38]
Chr7:141967536..142140032 [NCBI36]
Chr7:7q34		 likely benign
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q34(chr7:142503036-142753745)x1 copy number loss See cases [RCV000142812] Chr7:142503036..142753745 [GRCh38]
Chr7:141871507..142141170 [NCBI36]
Chr7:7q34		 likely benign
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35		 uncertain 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 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
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 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 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
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NC_000007.14:g.142581165C>G single nucleotide variant Keratoconus [RCV003235800] Chr7:142581165 [GRCh38]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely 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 entire extraembryonic component
High
Medium 11 3 17 1
Low 86 421 50 1 649 25 5 9 3 40 122 1 39 12
Below cutoff 372 466 212 60 437 32 427 116 219 24 349 320 28 250 207 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000621184   ⟹   ENSP00000479506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,580,917 - 142,581,427 (+)Ensembl
Protein Sequences
GenBank Protein A0A1B0GX78 (Get FASTA)   NCBI Sequence Viewer  
  CAA30186 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000479506.1
  ENSP00000488633.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000479506   ⟸   ENST00000621184
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1B0GX78-F1-model_v2 AlphaFold A0A1B0GX78 1-115 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12187 AgrOrtholog
COSMIC TRBV12-5 COSMIC
Ensembl Genes ENSG00000275158 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000282605 UniProtKB/TrEMBL
Ensembl Transcript ENST00000621184.1 UniProtKB/Swiss-Prot
  ENST00000632829.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000275158 GTEx
  ENSG00000282605 GTEx
HGNC ID HGNC:12187 ENTREZGENE
Human Proteome Map TRBV12-5 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene TRBV12-5 ENTREZGENE
PANTHER T CELL RECEPTOR BETA VARIABLE 12-5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T-CELL RECEPTOR BETA CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36867 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YY10_HUMAN UniProtKB/TrEMBL
  A0A1B0GX78 ENTREZGENE
  A0A8S4QEX8_HUMAN UniProtKB/TrEMBL
  TVBL5_HUMAN UniProtKB/Swiss-Prot