Atxn2l MGI Mouse Gene Detail - MGI:2446242

Symbol

Atxn2l
Name

ataxin 2-like
Synonyms

A2D, A2LG, A2lp, A2RP

Feature Type

protein coding gene
IDs

MGI:2446242
NCBI Gene: 233871
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr7:126090880-126102609 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 69.09 cM
Mapping Data

1 experiment

SNPs within 2kb

242 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2446242	protein coding gene	Chr7:126090880-126106991 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032984	protein coding gene	Chr7:130770106-130781834 (-)
A/J	MGP_AJ_G0032967	protein coding gene	Chr7:127312647-127324363 (-)
AKR/J	MGP_AKRJ_G0032899	protein coding gene	Chr7:130534076-130545805 (-)
BALB/cJ	MGP_BALBcJ_G0032972	protein coding gene	Chr7:126969563-126981292 (-)
C3H/HeJ	MGP_C3HHeJ_G0032682	protein coding gene	Chr7:130460970-130472737 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0033478	protein coding gene	Chr7:135858051-135869780 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030450	protein coding gene	Chr7:128507065-128518872 (-)
CAST/EiJ	MGP_CASTEiJ_G0032010	protein coding gene	Chr7:122247116-122258848 (-)
CBA/J	MGP_CBAJ_G0032655	protein coding gene	Chr7:140434299-140446028 (-)
DBA/2J	MGP_DBA2J_G0032807	protein coding gene	Chr7:125288450-125300179 (-)
FVB/NJ	MGP_FVBNJ_G0032760	protein coding gene	Chr7:125136898-125148626 (-)
LP/J	MGP_LPJ_G0032901	protein coding gene	Chr7:132237514-132249242 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032792	protein coding gene	Chr7:141621566-141633340 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033497	protein coding gene	Chr7:129550799-129562515 (-)
PWK/PhJ	MGP_PWKPhJ_G0031718	protein coding gene	Chr7:118272103-118283889 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0031564	protein coding gene	Chr7:116368879-116380566 (-)
WSB/EiJ	MGP_WSBEiJ_G0032123	protein coding gene	Chr7:130517008-130528784 (-)

Human Ortholog

ATXN2L, ataxin 2 like

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATXN2L, ataxin 2 like
Synonyms

A2D, A2LG, A2LP, A2RP
Links

HGNC:31326

NCBI Gene ID: 11273

neXtProt AC: NX_Q8WWM7

UniProt: Q8WWM7
Chr Location

16p11.2; chr16:28822999-28837237 (+) GRCh38

MGI Vertebrate Homology

Atxn2l stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATXN2L
Gene Tree

Atxn2l

less

Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
8 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

16
Endonuclease-mediated

2
Gene trapped

12
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit mid-gestation lethality associated with growth retardation, neuron apoptosis, and thin cortex.

less

All GO Annotations

11
GO References

5

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.

less

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

706
cDNA Data

9

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atxn2l

less

All Sequences

102
RefSeq

52
UniProt

7
CCDS

CCDS21831.1, CCDS85413.1

Ensembl

ENSMUSG00000032637 (Evidence)
NCBI Gene

233871

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032637	Ensembl Gene Model \| MGI Sequence Detail	11730	C57BL/6J	± kb
transcript	ENSMUST00000206577	Ensembl \| MGI Sequence Detail	3894	Not Applicable
polypeptide	ENSMUSP00000146023	Ensembl \| MGI Sequence Detail	1096	Not Applicable

less

UniProt

7 Sequences
Protein Ontology

PR:000004506 ataxin-2-like protein

(term hierarchy)
InterPro Domains

IPR009818 Ataxin-2, C-terminal

IPR045117 Ataxin2-like

IPR025852 Ataxin 2, SM domain

IPR009604 LsmAD domain

IPR047575 Sm domain
GlyGen

Q7TQH0 13 sites, 1 N-linked glycan (2 sites), 1 O-linked glycan (11 sites)

less

All nucleic 9

cDNA 9

Microarray probesets 4

Summaries

All 30

Gene Ontology 5

Phenotypes 8
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:294770 Key J, et al., Mid-Gestation lethality of Atxn2l-Ablated Mice. Int J Mol Sci. 2020 Jul 20;21(14):5124

TSS for Atxn2l:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr74740	Chr7:126102830-126102849 (-)	-231 bp
Tssr74739	Chr7:126102810-126102815 (-)	-204 bp
Tssr74738	Chr7:126102775-126102785 (-)	-171 bp
Tssr74737	Chr7:126102755-126102766 (-)	-152 bp
Tssr74736	Chr7:126102580-126102649 (-)	-6 bp
Tssr74735	Chr7:126102470-126102577 (-)	85 bp
Tssr74734	Chr7:126102439-126102456 (-)	161 bp
Tssr74733	Chr7:126101552-126101591 (-)	1,037 bp
Tssr74732	Chr7:126101528-126101548 (-)	1,071 bp
Tssr74731	Chr7:126101484-126101523 (-)	1,105 bp
Tssr74730	Chr7:126101266-126101281 (-)	1,335 bp
Tssr74729	Chr7:126101152-126101221 (-)	1,422 bp
Tssr74728	Chr7:126101124-126101132 (-)	1,481 bp
Tssr74727	Chr7:126095632-126095665 (-)	6,960 bp
Tssr74726	Chr7:126094602-126094650 (-)	7,983 bp
Tssr74725	Chr7:126093492-126093513 (-)	9,106 bp
Tssr74724	Chr7:126093372-126093446 (-)	9,200 bp
Tssr74723	Chr7:126091470-126091490 (-)	11,129 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 12/10/2024 MGI 6.24