AGXT2 (alanine--glyoxylate aminotransferase 2) - Rat Genome Database

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Gene: AGXT2 (alanine--glyoxylate aminotransferase 2) Homo sapiens
Analyze
Symbol: AGXT2
Name: alanine--glyoxylate aminotransferase 2
RGD ID: 1352542
HGNC Page HGNC:14412
Description: Enables (R)-3-amino-2-methylpropionate-pyruvate transaminase activity and alanine-glyoxylate transaminase activity. Involved in carboxylic acid metabolic process and positive regulation of nitric oxide biosynthetic process. Located in mitochondrion. Implicated in artery disease (multiple); atrial fibrillation; cerebral infarction; congestive heart failure; and mild cognitive impairment.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: (R)-3-amino-2-methylpropionate--pyruvate transaminase; AGT2; alanine--glyoxylate aminotransferase 2, mitochondrial; BAIBA; beta-ALAAT II; beta-alanine-pyruvate aminotransferase; D-3-aminoisobutyrate-pyruvate aminotransferase; D-beta-aminoisobutyrate-pyruvate aminotransferase; DAIBAT
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
GRCh38534,998,102 - 35,047,949 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl534,998,101 - 35,048,135 (-)EnsemblGRCh38hg38GRCh38
GRCh37534,998,207 - 35,048,054 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36535,033,963 - 35,083,756 (-)NCBINCBI36Build 36hg18NCBI36
Build 34535,033,962 - 35,083,756NCBI
Celera534,880,411 - 34,930,420 (-)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef534,946,958 - 34,996,974 (-)NCBIHuRef
CHM1_1535,000,510 - 35,050,560 (-)NCBICHM1_1
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial matrix  (IEA,TAS)
mitochondrion  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. AGXT2 and DDAH-1 genetic variants are highly correlated with serum ADMA and SDMA levels and with incidence of coronary artery disease in Egyptians. Amir M, etal., Mol Biol Rep. 2018 Dec;45(6):2411-2419. doi: 10.1007/s11033-018-4407-1. Epub 2018 Oct 3.
2. Genetic and environmental determinants of dimethylarginines and association with cardiovascular disease in patients with type 2 diabetes. Anderssohn M, etal., Diabetes Care. 2014;37(3):846-54. doi: 10.2337/dc13-0546. Epub 2013 Nov 1.
3. Alanine-glyoxylate aminotransferase-2 metabolizes endogenous methylarginines, regulates NO, and controls blood pressure. Caplin B, etal., Arterioscler Thromb Vasc Biol. 2012 Dec;32(12):2892-900. doi: 10.1161/ATVBAHA.112.254078. Epub 2012 Sep 27.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment. Granot-Hershkovitz E, etal., Transl Psychiatry. 2023 Apr 29;13(1):140. doi: 10.1038/s41398-023-02437-y.
6. Considerable impacts of AGXT2 V140I polymorphism on chronic heart failure in the Chinese population. Hu XL, etal., Atherosclerosis. 2016 Aug;251:255-262. doi: 10.1016/j.atherosclerosis.2016.07.006. Epub 2016 Jul 7.
7. AGXT2 rs37369 polymorphism predicts the renal function in patients with chronic heart failure. Hu XL, etal., Gene. 2017 Dec 30;637:145-151. doi: 10.1016/j.gene.2017.09.038. Epub 2017 Sep 21.
8. Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginine. Lüneburg N, etal., Circ Cardiovasc Genet. 2014 Dec;7(6):864-72. doi: 10.1161/CIRCGENETICS.113.000264. Epub 2014 Sep 21.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Associations of functional alanine-glyoxylate aminotransferase 2 gene variants with atrial fibrillation and ischemic stroke. Seppälä I, etal., Sci Rep. 2016 Mar 17;6:23207. doi: 10.1038/srep23207.
13. A genome-wide association study of metabolic traits in human urine. Suhre K, etal., Nat Genet. 2011 Jun;43(6):565-9. doi: 10.1038/ng.837. Epub 2011 May 15.
14. Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method. Yoshino Y, etal., BMC Genomics. 2021 Apr 20;22(1):287. doi: 10.1186/s12864-021-07612-3.
15. Missense variants of the alanine: glyoxylate aminotransferase 2 gene correlated with carotid atherosclerosis in the Japanese population. Yoshino Y, etal., J Biol Regul Homeost Agents. 2014 Oct-Dec;28(4):605-14.
16. Association of the AGXT2 V140I polymorphism with risk for coronary heart disease in a Chinese population. Zhou JP, etal., J Atheroscler Thromb. 2014;21(10):1022-30. doi: 10.5551/jat.23077. Epub 2014 May 16.
Additional References at PubMed
PMID:7592550   PMID:8125298   PMID:12477932   PMID:14702039   PMID:15240345   PMID:15342556   PMID:15956068   PMID:16344560   PMID:20018850   PMID:20877624   PMID:21873635   PMID:21931564  
PMID:21945966   PMID:21988832   PMID:23823483   PMID:23859953   PMID:24159190   PMID:24180385   PMID:24586186   PMID:24586340   PMID:24727203   PMID:25002409   PMID:25294000   PMID:27752063  
PMID:28357606   PMID:30585266   PMID:31062169   PMID:31818439   PMID:32948897   PMID:33892010   PMID:33961781   PMID:35961823   PMID:38261033  


Genomics

Comparative Map Data
AGXT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38534,998,102 - 35,047,949 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl534,998,101 - 35,048,135 (-)EnsemblGRCh38hg38GRCh38
GRCh37534,998,207 - 35,048,054 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36535,033,963 - 35,083,756 (-)NCBINCBI36Build 36hg18NCBI36
Build 34535,033,962 - 35,083,756NCBI
Celera534,880,411 - 34,930,420 (-)NCBICelera
Cytogenetic Map5p13.2NCBI
HuRef534,946,958 - 34,996,974 (-)NCBIHuRef
CHM1_1535,000,510 - 35,050,560 (-)NCBICHM1_1
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBIT2T-CHM13v2.0
Agxt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391510,358,602 - 10,410,244 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1510,358,618 - 10,410,239 (+)EnsemblGRCm39 Ensembl
GRCm381510,358,516 - 10,410,158 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1510,358,532 - 10,410,153 (+)EnsemblGRCm38mm10GRCm38
MGSCv371510,288,334 - 10,339,493 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361510,303,304 - 10,354,463 (+)NCBIMGSCv36mm8
Celera1510,155,885 - 10,206,282 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map155.35NCBI
Agxt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8261,063,416 - 61,104,828 (+)NCBIGRCr8
mRatBN7.2259,336,252 - 59,377,664 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl259,336,283 - 59,377,926 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx266,436,973 - 66,485,549 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0264,558,502 - 64,607,076 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0259,559,851 - 59,608,437 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0260,337,667 - 60,379,144 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl260,337,667 - 60,379,420 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0284,308,289 - 84,348,843 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4259,713,365 - 59,754,876 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1259,641,628 - 59,683,371 (+)NCBI
Celera259,294,201 - 59,335,576 (-)NCBICelera
Cytogenetic Map2q16NCBI
Agxt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542620,101,620 - 20,142,620 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542620,102,368 - 20,142,596 (-)NCBIChiLan1.0ChiLan1.0
AGXT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2475,288,478 - 75,339,754 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1573,442,171 - 73,493,386 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0575,322,351 - 75,373,261 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1580,601,554 - 80,652,575 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl580,601,554 - 80,652,575 (+)Ensemblpanpan1.1panPan2
AGXT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1473,292,117 - 73,327,769 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl473,292,101 - 73,327,962 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha472,908,514 - 72,944,184 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0473,797,662 - 73,833,439 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl473,797,685 - 73,833,434 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1473,545,393 - 73,581,098 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0473,668,622 - 73,704,659 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0474,202,253 - 74,237,942 (+)NCBIUU_Cfam_GSD_1.0
Agxt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213224,827,079 - 224,863,177 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365186,508,928 - 6,544,146 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365186,508,928 - 6,544,324 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGXT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1620,576,659 - 20,617,011 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11620,576,661 - 20,617,008 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21621,478,686 - 21,519,012 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AGXT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1433,889,615 - 33,933,500 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl433,888,533 - 33,933,449 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607124,192,128 - 24,237,014 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agxt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475919,858,148 - 19,938,229 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475919,858,255 - 19,909,516 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGXT2
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 copy number loss See cases [RCV000053449] Chr5:30149035..35213678 [GRCh38]
Chr5:30149142..35213780 [GRCh37]
Chr5:30184899..35249537 [NCBI36]
Chr5:5p13.3-13.2		 pathogenic
NM_031900.3(AGXT2):c.472C>T (p.Pro158Ser) single nucleotide variant Malignant melanoma [RCV000066902] Chr5:35036956 [GRCh38]
Chr5:35037061 [GRCh37]
Chr5:35072818 [NCBI36]
Chr5:5p13.2		 not provided
NM_031900.3(AGXT2):c.1083C>T (p.Val361=) single nucleotide variant Malignant melanoma [RCV000061239] Chr5:35014000 [GRCh38]
Chr5:35014105 [GRCh37]
Chr5:35049862 [NCBI36]
Chr5:5p13.2		 not provided
NM_031900.3(AGXT2):c.*380C>A single nucleotide variant Lung cancer [RCV000095879] Chr5:34998339 [GRCh38]
Chr5:34998444 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2		 likely pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
NM_031900.4(AGXT2):c.815C>G (p.Thr272Arg) single nucleotide variant Inborn genetic diseases [RCV003266419] Chr5:35026465 [GRCh38]
Chr5:35026570 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.295G>A (p.Ala99Thr) single nucleotide variant Inborn genetic diseases [RCV003266763] Chr5:35039391 [GRCh38]
Chr5:35039496 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.2(chr5:34945121-35060842)x3 copy number gain See cases [RCV000447852] Chr5:34945121..35060842 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p13.2(chr5:34945903-35060803)x3 copy number gain See cases [RCV000448098] Chr5:34945903..35060803 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1188+1G>A single nucleotide variant not specified [RCV000454854] Chr5:35012953 [GRCh38]
Chr5:35013058 [GRCh37]
Chr5:5p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
NM_031900.4(AGXT2):c.418G>A (p.Val140Ile) single nucleotide variant Beta-aminoisobutyric acid, urinary excretion of [RCV000490599] Chr5:35037010 [GRCh38]
Chr5:35037115 [GRCh37]
Chr5:5p13.2		 pathogenic|affects
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_031900.4(AGXT2):c.824C>T (p.Thr275Ile) single nucleotide variant Inborn genetic diseases [RCV003249399] Chr5:35026456 [GRCh38]
Chr5:35026561 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1079C>T (p.Ala360Val) single nucleotide variant Inborn genetic diseases [RCV003244231] Chr5:35014004 [GRCh38]
Chr5:35014109 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_031900.4(AGXT2):c.609C>T (p.Tyr203=) single nucleotide variant not provided [RCV000948698] Chr5:35033526 [GRCh38]
Chr5:35033631 [GRCh37]
Chr5:5p13.2		 benign
NM_031900.4(AGXT2):c.725G>A (p.Arg242Gln) single nucleotide variant not provided [RCV000880378] Chr5:35032776 [GRCh38]
Chr5:35032881 [GRCh37]
Chr5:5p13.2		 benign
NM_031900.4(AGXT2):c.288C>G (p.Leu96=) single nucleotide variant not provided [RCV000922372] Chr5:35039398 [GRCh38]
Chr5:35039503 [GRCh37]
Chr5:5p13.2		 likely benign
NM_031900.4(AGXT2):c.1339-8A>G single nucleotide variant not provided [RCV000910186] Chr5:35003869 [GRCh38]
Chr5:35003974 [GRCh37]
Chr5:5p13.2		 likely benign
NM_031900.4(AGXT2):c.398G>A (p.Arg133His) single nucleotide variant not provided [RCV000897117] Chr5:35037030 [GRCh38]
Chr5:35037135 [GRCh37]
Chr5:5p13.2		 benign
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_031900.4(AGXT2):c.1451C>T (p.Ala484Val) single nucleotide variant Inborn genetic diseases [RCV003291595] Chr5:34998813 [GRCh38]
Chr5:34998918 [GRCh37]
Chr5:5p13.2		 uncertain significance
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
NM_031900.4(AGXT2):c.397C>T (p.Arg133Cys) single nucleotide variant not provided [RCV000972415] Chr5:35037031 [GRCh38]
Chr5:35037136 [GRCh37]
Chr5:5p13.2		 benign
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
NC_000005.9:g.(?_33944753)_(35089722_?)dup duplication Alpha-methylacyl-CoA racemase deficiency [RCV001946089] Chr5:33944753..35089722 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_031900.4(AGXT2):c.226C>T (p.Pro76Ser) single nucleotide variant Inborn genetic diseases [RCV002865521] Chr5:35039460 [GRCh38]
Chr5:35039565 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.475G>A (p.Glu159Lys) single nucleotide variant Inborn genetic diseases [RCV002946754] Chr5:35036953 [GRCh38]
Chr5:35037058 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.661A>G (p.Thr221Ala) single nucleotide variant Inborn genetic diseases [RCV003013112] Chr5:35033474 [GRCh38]
Chr5:35033579 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.442G>C (p.Glu148Gln) single nucleotide variant Inborn genetic diseases [RCV002794318] Chr5:35036986 [GRCh38]
Chr5:35037091 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.697C>T (p.Arg233Cys) single nucleotide variant Inborn genetic diseases [RCV002687963] Chr5:35032804 [GRCh38]
Chr5:35032909 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.137C>T (p.Pro46Leu) single nucleotide variant Inborn genetic diseases [RCV002823156] Chr5:35040615 [GRCh38]
Chr5:35040720 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1504C>T (p.Arg502Cys) single nucleotide variant Inborn genetic diseases [RCV002738850] Chr5:34998760 [GRCh38]
Chr5:34998865 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1291G>A (p.Val431Ile) single nucleotide variant Inborn genetic diseases [RCV002704459] Chr5:35010047 [GRCh38]
Chr5:35010152 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.548C>T (p.Ala183Val) single nucleotide variant Inborn genetic diseases [RCV002884302] Chr5:35035255 [GRCh38]
Chr5:35035360 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1271A>T (p.Glu424Val) single nucleotide variant Inborn genetic diseases [RCV002641846] Chr5:35010067 [GRCh38]
Chr5:35010172 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.565G>A (p.Asp189Asn) single nucleotide variant Inborn genetic diseases [RCV002983263] Chr5:35035238 [GRCh38]
Chr5:35035343 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1073T>C (p.Met358Thr) single nucleotide variant Inborn genetic diseases [RCV002789884] Chr5:35014010 [GRCh38]
Chr5:35014115 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.220C>A (p.Leu74Ile) single nucleotide variant Inborn genetic diseases [RCV002981915] Chr5:35039466 [GRCh38]
Chr5:35039571 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.980G>T (p.Gly327Val) single nucleotide variant Inborn genetic diseases [RCV002655105] Chr5:35014103 [GRCh38]
Chr5:35014208 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.794A>G (p.Tyr265Cys) single nucleotide variant Inborn genetic diseases [RCV002652869] Chr5:35026486 [GRCh38]
Chr5:35026591 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.683G>A (p.Cys228Tyr) single nucleotide variant Inborn genetic diseases [RCV003178675] Chr5:35032818 [GRCh38]
Chr5:35032923 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1283T>C (p.Val428Ala) single nucleotide variant Inborn genetic diseases [RCV003173070] Chr5:35010055 [GRCh38]
Chr5:35010160 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1044G>A (p.Met348Ile) single nucleotide variant Inborn genetic diseases [RCV003208725] Chr5:35014039 [GRCh38]
Chr5:35014144 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1000T>C (p.Trp334Arg) single nucleotide variant Inborn genetic diseases [RCV003199054] Chr5:35014083 [GRCh38]
Chr5:35014188 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1333G>A (p.Asp445Asn) single nucleotide variant Inborn genetic diseases [RCV003199668] Chr5:35010005 [GRCh38]
Chr5:35010110 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.901G>A (p.Gly301Arg) single nucleotide variant Inborn genetic diseases [RCV003309748] Chr5:35025825 [GRCh38]
Chr5:35025930 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1411G>T (p.Val471Phe) single nucleotide variant Inborn genetic diseases [RCV003357744] Chr5:35003789 [GRCh38]
Chr5:35003894 [GRCh37]
Chr5:5p13.2		 uncertain significance
NM_031900.4(AGXT2):c.1193T>C (p.Ile398Thr) single nucleotide variant Inborn genetic diseases [RCV003367283] Chr5:35010145 [GRCh38]
Chr5:35010250 [GRCh37]
Chr5:5p13.2		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:866
Count of miRNA genes:580
Interacting mature miRNAs:625
Transcripts:ENST00000231420, ENST00000505349, ENST00000505542, ENST00000510428, ENST00000512135
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.

Markers in Region
RH99171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,033,433 - 35,033,576UniSTSGRCh37
Build 36535,069,190 - 35,069,333RGDNCBI36
Celera534,915,606 - 34,915,749RGD
Cytogenetic Map5p13UniSTS
HuRef534,982,174 - 34,982,317UniSTS
GeneMap99-GB4 RH Map5124.27UniSTS
SHGC-105268  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera534,908,116 - 34,908,444RGD
Cytogenetic Map5p13UniSTS
HuRef534,974,670 - 34,974,998UniSTS
TNG Radiation Hybrid Map517661.0UniSTS
SGC33361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37534,998,242 - 34,998,367UniSTSGRCh37
Build 36535,033,999 - 35,034,124RGDNCBI36
Celera534,880,447 - 34,880,572RGD
Cytogenetic Map5p13UniSTS
HuRef534,946,993 - 34,947,118UniSTS
TNG Radiation Hybrid Map517658.0UniSTS
GeneMap99-GB4 RH Map5124.27UniSTS
Whitehead-RH Map5130.9UniSTS
RH78189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,027,604 - 35,027,775UniSTSGRCh37
Build 36535,063,361 - 35,063,532RGDNCBI36
Celera534,909,803 - 34,909,974RGD
Cytogenetic Map5p13UniSTS
HuRef534,976,357 - 34,976,528UniSTS
GeneMap99-GB4 RH Map5128.77UniSTS
RH17937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37534,998,270 - 34,998,417UniSTSGRCh37
Build 36535,034,027 - 35,034,174RGDNCBI36
Celera534,880,475 - 34,880,622RGD
Cytogenetic Map5p13UniSTS
HuRef534,947,021 - 34,947,168UniSTS
GeneMap99-GB4 RH Map5124.27UniSTS
D5S2573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,037,926 - 35,038,017UniSTSGRCh37
Build 36535,073,683 - 35,073,774RGDNCBI36
Celera534,920,105 - 34,920,196RGD
Cytogenetic Map5p13UniSTS
HuRef534,986,673 - 34,986,764UniSTS
TNG Radiation Hybrid Map517672.0UniSTS
Stanford-G3 RH Map51336.0UniSTS


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 2 380 379 1 379 219 3 1
Low 114 27 53 47 126 48 8 3 7 66 22 6 7 2 1
Below cutoff 679 641 493 73 405 12 1567 370 955 43 727 365 61 283 911

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001306173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB193309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ292204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP277413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA633665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU847977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000231420   ⟹   ENSP00000231420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,998,102 - 35,047,949 (-)Ensembl
RefSeq Acc Id: ENST00000505349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl535,012,397 - 35,025,833 (-)Ensembl
RefSeq Acc Id: ENST00000505542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl535,033,011 - 35,047,890 (-)Ensembl
RefSeq Acc Id: ENST00000510428   ⟹   ENSP00000422799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,998,250 - 35,047,935 (-)Ensembl
RefSeq Acc Id: ENST00000512135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,998,103 - 35,026,395 (-)Ensembl
RefSeq Acc Id: ENST00000618015   ⟹   ENSP00000479154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl534,998,101 - 35,048,135 (-)Ensembl
RefSeq Acc Id: NM_001306173   ⟹   NP_001293102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,998,102 - 35,047,949 (-)NCBI
CHM1_1535,000,510 - 35,050,560 (-)NCBI
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031900   ⟹   NP_114106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,998,102 - 35,047,949 (-)NCBI
GRCh37534,998,206 - 35,048,293 (-)NCBI
Build 36535,033,963 - 35,083,756 (-)NCBI Archive
Celera534,880,411 - 34,930,420 (-)RGD
HuRef534,946,958 - 34,996,974 (-)ENTREZGENE
CHM1_1535,000,510 - 35,050,560 (-)NCBI
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248337   ⟹   XP_005248394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,998,102 - 35,047,949 (-)NCBI
GRCh37534,998,206 - 35,048,293 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248338   ⟹   XP_005248395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,998,102 - 35,047,949 (-)NCBI
GRCh37534,998,206 - 35,048,293 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009748   ⟹   XP_016865237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,998,102 - 35,047,949 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417534   ⟹   XP_047273490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38534,998,102 - 35,047,949 (-)NCBI
RefSeq Acc Id: XM_054353174   ⟹   XP_054209149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBI
RefSeq Acc Id: XM_054353175   ⟹   XP_054209150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBI
RefSeq Acc Id: XM_054353176   ⟹   XP_054209151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBI
RefSeq Acc Id: XM_054353177   ⟹   XP_054209152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0535,245,145 - 35,294,998 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_114106   ⟸   NM_031900
- Peptide Label: isoform a precursor
- UniProtKB: Q53G03 (UniProtKB/Swiss-Prot),   Q53FY7 (UniProtKB/Swiss-Prot),   Q53FB4 (UniProtKB/Swiss-Prot),   E9PDL7 (UniProtKB/Swiss-Prot),   B7ZM47 (UniProtKB/Swiss-Prot),   Q5W7Q1 (UniProtKB/Swiss-Prot),   Q9BYV1 (UniProtKB/Swiss-Prot),   B2RBJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248394   ⟸   XM_005248337
- Peptide Label: isoform X1
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248395   ⟸   XM_005248338
- Peptide Label: isoform X2
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293102   ⟸   NM_001306173
- Peptide Label: isoform b precursor
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865237   ⟸   XM_017009748
- Peptide Label: isoform X3
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000231420   ⟸   ENST00000231420
RefSeq Acc Id: ENSP00000422799   ⟸   ENST00000510428
RefSeq Acc Id: ENSP00000479154   ⟸   ENST00000618015
RefSeq Acc Id: XP_047273490   ⟸   XM_047417534
- Peptide Label: isoform X4
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209152   ⟸   XM_054353177
- Peptide Label: isoform X4
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209149   ⟸   XM_054353174
- Peptide Label: isoform X1
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209150   ⟸   XM_054353175
- Peptide Label: isoform X2
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054209151   ⟸   XM_054353176
- Peptide Label: isoform X3
- UniProtKB: B2RBJ5 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BYV1-F1-model_v2 AlphaFold Q9BYV1 1-514 view protein structure

Promoters
RGD ID:6869370
Promoter ID:EPDNEW_H7850
Type:multiple initiation site
Name:AGXT2_1
Description:alanine--glyoxylate aminotransferase 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
GRCh38535,047,949 - 35,048,009EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14412 AgrOrtholog
COSMIC AGXT2 COSMIC
Ensembl Genes ENSG00000113492 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000231420 ENTREZGENE
  ENST00000231420.11 UniProtKB/Swiss-Prot
  ENST00000510428 ENTREZGENE
  ENST00000510428.1 UniProtKB/Swiss-Prot
  ENST00000618015 ENTREZGENE
  ENST00000618015.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113492 GTEx
HGNC ID HGNC:14412 ENTREZGENE
Human Proteome Map AGXT2 Human Proteome Map
InterPro Aminotrans_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_3_PPA_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64902 UniProtKB/Swiss-Prot
NCBI Gene 64902 ENTREZGENE
OMIM 612471 OMIM
PANTHER ALANINE--GLYOXYLATE AMINOTRANSFERASE 2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45688 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24634 PharmGKB
PIRSF Transaminase_4ab_Lys_Orn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AGT2_HUMAN UniProtKB/Swiss-Prot
  B2RBJ5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZM47 ENTREZGENE
  E9PDL7 ENTREZGENE
  Q53FB4 ENTREZGENE
  Q53FY7 ENTREZGENE
  Q53G03 ENTREZGENE
  Q5W7Q1 ENTREZGENE
  Q9BYV1 ENTREZGENE
UniProt Secondary B7ZM47 UniProtKB/Swiss-Prot
  E9PDL7 UniProtKB/Swiss-Prot
  Q53FB4 UniProtKB/Swiss-Prot
  Q53FY7 UniProtKB/Swiss-Prot
  Q53G03 UniProtKB/Swiss-Prot
  Q5W7Q1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 AGXT2  alanine--glyoxylate aminotransferase 2  AGXT2  alanine-glyoxylate aminotransferase 2  Symbol and/or name change 5135510 APPROVED