Gpt2 MGI Mouse Gene Detail - MGI:1915391 - glutamic pyruvate transaminase (alanine aminotransferase) 2

Symbol

Gpt2
Name

glutamic pyruvate transaminase (alanine aminotransferase) 2
Synonyms

4631422C05Rik, ALT2

Feature Type

protein coding gene
IDs

MGI:1915391
NCBI Gene: 108682
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr8:86219205-86254189 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 41.61 cM, cytoband C2
Mapping Data

3 experiments

SNPs within 2kb

1046 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915391	protein coding gene	Chr8:86219090-86255531 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033902	protein coding gene	Chr8:86428985-86463777 (+)
A/J	MGP_AJ_G0033885	protein coding gene	Chr8:83030393-83065327 (+)
AKR/J	MGP_AKRJ_G0033811	protein coding gene	Chr8:85494519-85529377 (+)
BALB/cJ	MGP_BALBcJ_G0033878	protein coding gene	Chr8:83159738-83195382 (+)
C3H/HeJ	MGP_C3HHeJ_G0033589	protein coding gene	Chr8:86117996-86153481 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034399	protein coding gene	Chr8:89771137-89808145 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031339	protein coding gene	Chr8:76822890-76856793 (+)
CAST/EiJ	MGP_CASTEiJ_G0032918	protein coding gene	Chr8:85540508-85574767 (+)
CBA/J	MGP_CBAJ_G0033564	protein coding gene	Chr8:92807975-92844039 (+)
DBA/2J	MGP_DBA2J_G0033717	protein coding gene	Chr8:82667265-82702025 (+)
FVB/NJ	MGP_FVBNJ_G0033665	protein coding gene	Chr8:81611717-81646654 (+)
LP/J	MGP_LPJ_G0033809	protein coding gene	Chr8:86546732-86583823 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033708	protein coding gene	Chr8:95348498-95382794 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034416	protein coding gene	Chr8:85488203-85525504 (+)
PWK/PhJ	MGP_PWKPhJ_G0032622	protein coding gene	Chr8:81911850-81946927 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032457	protein coding gene	Chr8:84280735-84315026 (+)
WSB/EiJ	MGP_WSBEiJ_G0033031	protein coding gene	Chr8:85907493-85945742 (+)

Human Ortholog

GPT2, glutamic--pyruvic transaminase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GPT2, glutamic--pyruvic transaminase 2
Synonyms

ALT2, GPT 2, MRT49, NEDSPM
Links

HGNC:18062

NCBI Gene ID: 84706

neXtProt AC: NX_Q8TD30

UniProt: Q8TD30
Chr Location

16q11.2; chr16:46884362-46931289 (+) GRCh38

MGI Vertebrate Homology

Gpt2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GPT2
Gene Tree

Gpt2

Diseases

1 with human GPT2 associations

				Human Disease	Mouse Models
				neurodevelopmental disorder with spastic paraplegia and microcephaly IDs neurodevelopmental disorder with spastic paraplegia and microcephaly DOID:0070542 OMIM:616281 ORDO:477673 UMLS_CUI:C4225388 UMLS_CUI:C5567787

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
1 images
46 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

1
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Gpt2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit hypoactivity, reduced postnatal brain growth, various metabolic defects in pathways involving amino acid metabolism, the TCA cycle and neuroprotective mechanisms, and premature death.

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All GO Annotations

12
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

915
Tissues

106
cDNA Data

118
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gpt2

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All Sequences

65
RefSeq

7
UniProt

2
CCDS

CCDS22499.1

Ensembl

ENSMUSG00000031700 (Evidence)
NCBI Gene

108682

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031700	Ensembl Gene Model \| MGI Sequence Detail	34985	C57BL/6J	± kb
transcript	ENSMUST00000034136	Ensembl \| MGI Sequence Detail	3639	Not Applicable
polypeptide	ENSMUSP00000034136	Ensembl \| MGI Sequence Detail	522	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000008209 alanine aminotransferase 2

(term hierarchy)
EC

2.6.1.2
InterPro Domains

IPR045088 Aminotransferase ALAT1/2-like

IPR004839 Aminotransferase, class I/classII

IPR015424 Pyridoxal phosphate-dependent transferase

IPR015421 Pyridoxal phosphate-dependent transferase, major domain

IPR015422 Pyridoxal phosphate-dependent transferase, small domain
GlyGen

Q8BGT5 1 site, 1 O-linked glycan (1 site)

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All nucleic 120

cDNA 118

Primer pair 2

Microarray probesets 6

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MGI:2138407, MGI:2142714, MGI:2142880

Summaries

All 81

Developmental Gene Expression 3

Gene Ontology 6

Phenotypes 46
Earliest

J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
Latest

J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12

TSS for Gpt2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr78550	Chr8:86219104-86219119 (+)	-93 bp
Tssr78551	Chr8:86219197-86219255 (+)	21 bp
Tssr78552	Chr8:86219268-86219279 (+)	69 bp
Tssr78553	Chr8:86219305-86219316 (+)	106 bp
Tssr78554	Chr8:86219329-86219338 (+)	129 bp
Tssr78555	Chr8:86235810-86235834 (+)	16,617 bp
Tssr78556	Chr8:86242357-86242401 (+)	23,174 bp
Tssr78557	Chr8:86242463-86242497 (+)	23,275 bp
Tssr2633	Chr8:86247319-86247322 (+)	28,116 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24