BCAT2 (branched chain amino acid transaminase 2) - Rat Genome Database

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Gene: BCAT2 (branched chain amino acid transaminase 2) Homo sapiens
Analyze
Symbol: BCAT2
Name: branched chain amino acid transaminase 2
RGD ID: 69002
HGNC Page HGNC
Description: Predicted to have branched-chain-amino-acid transaminase activity. Predicted to be involved in isoleucine metabolic process; leucine biosynthetic process; and valine biosynthetic process. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCAM; BCATM; BCT2; branched chain amino-acid transaminase 2, mitochondrial; branched chain aminotransferase 2, mitochondrial; branched-chain-amino-acid aminotransferase, mitochondrial; HVLI; placental protein 18; PP18
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1948,795,062 - 48,811,029 (-)EnsemblGRCh38hg38GRCh38
GRCh381948,795,064 - 48,811,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,298,321 - 49,314,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,990,131 - 54,006,113 (-)NCBINCBI36hg18NCBI36
Build 341953,990,131 - 54,006,113NCBI
Celera1946,166,129 - 46,182,134 (-)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,677,853 - 45,693,853 (-)NCBIHuRef
CHM1_11949,300,194 - 49,316,125 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:3896163   PMID:6933702   PMID:8125298   PMID:8702755   PMID:8889548   PMID:9478945   PMID:9657861   PMID:9665099   PMID:11170829   PMID:11264579   PMID:12119021   PMID:12269802  
PMID:12477932   PMID:12686109   PMID:14702039   PMID:15182179   PMID:15489334   PMID:16141215   PMID:16344560   PMID:17050531   PMID:19119849   PMID:20877624   PMID:21832049   PMID:21873635  
PMID:21988832   PMID:22107788   PMID:23043456   PMID:26186194   PMID:26344197   PMID:26760575   PMID:28319085   PMID:28514442   PMID:29117863   PMID:29211698   PMID:29568061   PMID:29725856  
PMID:30021884   PMID:31929181   PMID:32029896  


Genomics

Comparative Map Data
BCAT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1948,795,062 - 48,811,029 (-)EnsemblGRCh38hg38GRCh38
GRCh381948,795,064 - 48,811,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,298,321 - 49,314,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,990,131 - 54,006,113 (-)NCBINCBI36hg18NCBI36
Build 341953,990,131 - 54,006,113NCBI
Celera1946,166,129 - 46,182,134 (-)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,677,853 - 45,693,853 (-)NCBIHuRef
CHM1_11949,300,194 - 49,316,125 (-)NCBICHM1_1
Bcat2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,218,391 - 45,239,134 (+)NCBIGRCm39mm39
GRCm39 Ensembl745,219,577 - 45,239,135 (+)Ensembl
GRCm38745,568,967 - 45,589,710 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,570,153 - 45,589,711 (+)EnsemblGRCm38mm10GRCm38
MGSCv37752,825,733 - 52,845,078 (+)NCBIGRCm37mm9NCBIm37
MGSCv36745,438,405 - 45,457,750 (+)NCBImm8
Celera741,023,580 - 41,045,483 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.36NCBI
Bcat2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2196,040,407 - 96,060,008 (+)NCBI
Rnor_6.0 Ensembl1101,554,642 - 101,572,080 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01101,553,900 - 101,572,103 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01102,633,422 - 102,650,883 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,038,287 - 96,055,622 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1196,116,397 - 96,133,732 (+)NCBI
Celera190,298,174 - 90,315,510 (+)NCBICelera
Cytogenetic Map1q22NCBI
Bcat2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,785,253 - 1,797,899 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,785,253 - 1,796,838 (+)NCBIChiLan1.0ChiLan1.0
BCAT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11954,945,156 - 54,962,887 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1954,945,157 - 54,962,887 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01945,793,433 - 45,809,546 (-)NCBIMhudiblu_PPA_v0panPan3
BCAT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,539,125 - 107,549,286 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,538,465 - 107,549,234 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1107,061,565 - 107,071,746 (+)NCBI
ROS_Cfam_1.01108,063,749 - 108,073,941 (+)NCBI
UMICH_Zoey_3.11107,730,663 - 107,740,841 (+)NCBI
UNSW_CanFamBas_1.01107,377,548 - 107,387,729 (+)NCBI
UU_Cfam_GSD_1.01108,213,156 - 108,223,338 (+)NCBI
Bcat2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,247,666 - 21,259,021 (-)NCBI
SpeTri2.0NW_0049366642,865,804 - 2,890,038 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCAT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,107,681 - 54,143,602 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,107,682 - 54,123,595 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,855,038 - 49,870,815 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCAT2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,031,003 - 42,051,770 (-)NCBI
ChlSab1.1 Ensembl642,030,984 - 42,049,050 (-)Ensembl
Bcat2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248325,132,667 - 5,147,099 (+)NCBI

Position Markers
BCAT2_8226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,298,151 - 49,298,673UniSTSGRCh37
Build 361953,989,963 - 53,990,485RGDNCBI36
Celera1946,165,961 - 46,166,483RGD
HuRef1945,677,685 - 45,678,207UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3395
Count of miRNA genes:860
Interacting mature miRNAs:1050
Transcripts:ENST00000316273, ENST00000402551, ENST00000545387, ENST00000593515, ENST00000595376, ENST00000596981, ENST00000597011, ENST00000598162, ENST00000599246, ENST00000599510, ENST00000601496, ENST00000601681
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2418 2106 1468 375 1160 217 4270 2054 2469 403 1433 1588 170 1189 2737 3
Low 20 880 256 248 786 248 85 142 1247 16 26 24 5 1 15 51 3 1
Below cutoff 4 1 5 1 1 16 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE139200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM802402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU178552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB049110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA129578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC395685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC897076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316273   ⟹   ENSP00000322991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,795,064 - 48,811,029 (-)Ensembl
RefSeq Acc Id: ENST00000402551   ⟹   ENSP00000385161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,795,065 - 48,811,027 (-)Ensembl
RefSeq Acc Id: ENST00000545387   ⟹   ENSP00000440973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,795,062 - 48,811,012 (-)Ensembl
RefSeq Acc Id: ENST00000593515   ⟹   ENSP00000469139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,795,100 - 48,807,074 (-)Ensembl
RefSeq Acc Id: ENST00000595376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,798,810 - 48,807,792 (-)Ensembl
RefSeq Acc Id: ENST00000596981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,807,789 - 48,811,029 (-)Ensembl
RefSeq Acc Id: ENST00000597011   ⟹   ENSP00000469651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,795,110 - 48,810,916 (-)Ensembl
RefSeq Acc Id: ENST00000598162   ⟹   ENSP00000470216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,796,259 - 48,811,027 (-)Ensembl
RefSeq Acc Id: ENST00000599246   ⟹   ENSP00000470680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,795,865 - 48,811,029 (-)Ensembl
RefSeq Acc Id: ENST00000599510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,796,247 - 48,797,543 (-)Ensembl
RefSeq Acc Id: ENST00000601496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,807,013 - 48,811,029 (-)Ensembl
RefSeq Acc Id: ENST00000601681   ⟹   ENSP00000472641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,800,066 - 48,810,921 (-)Ensembl
RefSeq Acc Id: NM_001164773   ⟹   NP_001158245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,795,064 - 48,811,029 (-)NCBI
GRCh371949,298,319 - 49,314,320 (-)ENTREZGENE
HuRef1945,677,853 - 45,693,853 (-)ENTREZGENE
CHM1_11949,300,194 - 49,316,125 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190   ⟹   NP_001181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,795,064 - 48,811,029 (-)NCBI
GRCh371949,298,319 - 49,314,320 (-)ENTREZGENE
Build 361953,990,131 - 54,006,113 (-)NCBI Archive
HuRef1945,677,853 - 45,693,853 (-)ENTREZGENE
CHM1_11949,300,194 - 49,316,125 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001284325   ⟹   NP_001271254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,795,064 - 48,811,029 (-)NCBI
HuRef1945,677,853 - 45,693,853 (-)NCBI
CHM1_11949,300,194 - 49,316,125 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451630   ⟹   XP_024307398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,795,064 - 48,810,958 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001158245   ⟸   NM_001164773
- Peptide Label: isoform b
- UniProtKB: O15382 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001181   ⟸   NM_001190
- Peptide Label: isoform a precursor
- UniProtKB: O15382 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271254   ⟸   NM_001284325
- Peptide Label: isoform c
- UniProtKB: O15382 (UniProtKB/Swiss-Prot),   B3KSI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307398   ⟸   XM_024451630
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000469651   ⟸   ENST00000597011
RefSeq Acc Id: ENSP00000440973   ⟸   ENST00000545387
RefSeq Acc Id: ENSP00000470216   ⟸   ENST00000598162
RefSeq Acc Id: ENSP00000470680   ⟸   ENST00000599246
RefSeq Acc Id: ENSP00000385161   ⟸   ENST00000402551
RefSeq Acc Id: ENSP00000472641   ⟸   ENST00000601681
RefSeq Acc Id: ENSP00000322991   ⟸   ENST00000316273
RefSeq Acc Id: ENSP00000469139   ⟸   ENST00000593515

Promoters
RGD ID:13205019
Promoter ID:EPDNEW_H26090
Type:initiation region
Name:BCAT2_1
Description:branched chain amino acid transaminase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,811,029 - 48,811,089EPDNEW
RGD ID:6795194
Promoter ID:HG_KWN:30481
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002PKQ.2,   UC002PKR.1,   UC002PKS.1,   UC002PKT.1,   UC010EMH.1,   UC010EMI.1,   UC010EMJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,005,821 - 54,006,321 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_001190.3(BCAT2):c.1140+214G>A single nucleotide variant Malignant melanoma [RCV000072240] Chr19:48796214 [GRCh38]
Chr19:49299471 [GRCh37]
Chr19:53991283 [NCBI36]
Chr19:19q13.33
not provided
GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3 copy number gain See cases [RCV000135686] Chr19:48577651..48839042 [GRCh38]
Chr19:49080908..49342299 [GRCh37]
Chr19:53772720..54034111 [NCBI36]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33(chr19:49302695-49348682)x3 copy number gain See cases [RCV000447789] Chr19:49302695..49348682 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3 copy number gain not provided [RCV000684074] Chr19:49169554..49388064 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33(chr19:49297794-49339098)x3 copy number gain not provided [RCV000752722] Chr19:49297794..49339098 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33(chr19:49260273-49334248)x3 copy number gain not provided [RCV000740201] Chr19:49260273..49334248 [GRCh37]
Chr19:19q13.33
benign
NM_001190.4(BCAT2):c.696-10C>T single nucleotide variant not provided [RCV000936641] Chr19:48797343 [GRCh38]
Chr19:49300600 [GRCh37]
Chr19:19q13.33
likely benign
NM_001190.4(BCAT2):c.997C>T (p.Arg333Trp) single nucleotide variant not provided [RCV000904820] Chr19:48796646 [GRCh38]
Chr19:49299903 [GRCh37]
Chr19:19q13.33
likely benign
NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln) single nucleotide variant Hypervalinemia and hyperleucine-isoleucinemia [RCV001078195] Chr19:48800003 [GRCh38]
Chr19:49303260 [GRCh37]
Chr19:19q13.33
pathogenic
NM_001190.4(BCAT2):c.786C>T (p.Leu262=) single nucleotide variant not provided [RCV000967525] Chr19:48797243 [GRCh38]
Chr19:49300500 [GRCh37]
Chr19:19q13.33
benign
NM_001190.4(BCAT2):c.939G>T (p.Val313=) single nucleotide variant not provided [RCV000892202] Chr19:48796704 [GRCh38]
Chr19:49299961 [GRCh37]
Chr19:19q13.33
likely benign
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_001190.4(BCAT2):c.712G>A (p.Val238Met) single nucleotide variant not provided [RCV000996956] Chr19:48797317 [GRCh38]
Chr19:49300574 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_001190.4(BCAT2):c.644C>G (p.Pro215Arg) single nucleotide variant not provided [RCV000908031] Chr19:48799726 [GRCh38]
Chr19:49302983 [GRCh37]
Chr19:19q13.33
likely benign
NM_001190.4(BCAT2):c.99+6A>G single nucleotide variant not provided [RCV000970727] Chr19:48806994 [GRCh38]
Chr19:49310251 [GRCh37]
Chr19:19q13.33
likely benign
NM_001190.4(BCAT2):c.298C>G (p.Gln100Glu) single nucleotide variant not provided [RCV000957987] Chr19:48806519 [GRCh38]
Chr19:49309776 [GRCh37]
Chr19:19q13.33
benign
BCAT2, GLU264LYS variation Hypervalinemia and hyperleucine-isoleucinemia [RCV001078196] Chr19:19q13.33 pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3 copy number gain not provided [RCV001259943] Chr19:48854319..49430535 [GRCh37]
Chr19:19q13.33
likely pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:977 AgrOrtholog
COSMIC BCAT2 COSMIC
Ensembl Genes ENSG00000105552 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000322991 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385161 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000440973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000469139 UniProtKB/TrEMBL
  ENSP00000469651 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000470216 UniProtKB/TrEMBL
  ENSP00000470680 UniProtKB/TrEMBL
  ENSP00000472641 UniProtKB/TrEMBL
Ensembl Transcript ENST00000316273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402551 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000545387 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000593515 UniProtKB/TrEMBL
  ENST00000597011 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000598162 UniProtKB/TrEMBL
  ENST00000599246 UniProtKB/TrEMBL
  ENST00000601681 UniProtKB/TrEMBL
Gene3D-CATH 3.20.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.470.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105552 GTEx
HGNC ID HGNC:977 ENTREZGENE
Human Proteome Map BCAT2 Human Proteome Map
InterPro Aminotrans_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_IV_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotransferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B_amino_transII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCAT-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCAT-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCAT_family UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:587 UniProtKB/Swiss-Prot
NCBI Gene 587 ENTREZGENE
OMIM 113530 OMIM
  618850 OMIM
Pfam Aminotran_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25289 PharmGKB
PIRSF BCAT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56752 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ilvE_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KSI3 ENTREZGENE, UniProtKB/TrEMBL
  BCAT2_HUMAN UniProtKB/Swiss-Prot
  M0QXF9_HUMAN UniProtKB/TrEMBL
  M0QZ10_HUMAN UniProtKB/TrEMBL
  M0QZP4_HUMAN UniProtKB/TrEMBL
  M0R2K7_HUMAN UniProtKB/TrEMBL
  O15382 ENTREZGENE
UniProt Secondary B2RB87 UniProtKB/Swiss-Prot
  O00269 UniProtKB/Swiss-Prot
  Q96KG1 UniProtKB/Swiss-Prot
  Q9BTB6 UniProtKB/Swiss-Prot
  Q9BUU6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 BCAT2  branched chain amino acid transaminase 2    branched chain amino-acid transaminase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED
2011-08-17 BCAT2  branched chain amino-acid transaminase 2, mitochondrial  BCAT2  branched chain amino-acid transaminase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED
2011-07-27 BCAT2  branched chain amino-acid transaminase 2, mitochondrial  BCAT2  branched chain aminotransferase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED