Ttbk2 MGI Mouse Gene Detail - MGI:2155779

Symbol

Ttbk2
Name

tau tubulin kinase 2
Synonyms

2610507N02Rik, B930008N24Rik, TTK

Feature Type

protein coding gene
IDs

MGI:2155779
NCBI Gene: 140810
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:120563297-120681085 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.37 cM, cytoband F1
Mapping Data

3 experiments

SNPs within 2kb

1754 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2155779	protein coding gene	Chr2:120563297-120681111 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026374	protein coding gene	Chr2:123607955-123717260 (-)
A/J	MGP_AJ_G0026335	protein coding gene	Chr2:118551210-118655861 (-)
AKR/J	MGP_AKRJ_G0026314	protein coding gene	Chr2:121861021-121979109 (-)
BALB/cJ	MGP_BALBcJ_G0026348	protein coding gene	Chr2:118790371-118893956 (-)
C3H/HeJ	MGP_C3HHeJ_G0026094	protein coding gene	Chr2:122360630-122468821 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026795	protein coding gene	Chr2:127647440-127771113 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024175	protein coding gene	Chr2:113564877-113689317 (-)
CAST/EiJ	MGP_CASTEiJ_G0025556	protein coding gene	Chr2:122663101-122770136 (-)
CBA/J	MGP_CBAJ_G0026070	protein coding gene	Chr2:132111683-132223857 (-)
DBA/2J	MGP_DBA2J_G0026209	protein coding gene	Chr2:117943228-118044755 (-)
FVB/NJ	MGP_FVBNJ_G0026171	protein coding gene	Chr2:116774962-116879284 (-)
LP/J	MGP_LPJ_G0026310	protein coding gene	Chr2:123871740-123978909 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026190	protein coding gene	Chr2:136410921-136523821 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026850	protein coding gene	Chr2:121991042-122103284 (-)
PWK/PhJ	MGP_PWKPhJ_G0025292	protein coding gene	Chr2:117545090-117658529 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025091	protein coding gene	Chr2:121194394-121319096 (-)
WSB/EiJ	MGP_WSBEiJ_G0025625	protein coding gene	Chr2:122823058-122933234 (-)

Human Ortholog

TTBK2, tau tubulin kinase 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TTBK2, tau tubulin kinase 2
Synonyms

SCA11, TTBK
Links

HGNC:19141

NCBI Gene ID: 146057

neXtProt AC: NX_Q6IQ55

UniProt: Q6IQ55
Chr Location

15q15.2; chr15:42738730-42921000 (-) GRCh38

MGI Vertebrate Homology

Ttbk2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TTBK2
Gene Tree

Ttbk2

Diseases

1 with human TTBK2 associations

				Human Disease	Mouse Models
				spinocerebellar ataxia type 11 IDs spinocerebellar ataxia type 11 DOID:0050961 OMIM:604432

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

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Phenotype Summary

24 phenotypes from 4 alleles in 4 genetic backgrounds
16 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

9
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Ttbk2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

64 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning.

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All GO Annotations

67
GO References

14

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

746
Tissues

9
cDNA Data

58
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ttbk2

ZFIN ttbk2b

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All Sequences

54
RefSeq

6
UniProt

1
CCDS

CCDS16626.1, CCDS16627.1

Ensembl

ENSMUSG00000090100 (Evidence)
NCBI Gene

140810

			Length	Strain/Species	Flank
genomic	ENSMUSG00000090100	Ensembl Gene Model \| MGI Sequence Detail	117789	C57BL/6J	± kb
transcript	ENSMUST00000028740	Ensembl \| MGI Sequence Detail	10926	Not Applicable
polypeptide	ENSMUSP00000028740	Ensembl \| MGI Sequence Detail	1312	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000016778 tau-tubulin kinase 2

(term hierarchy)

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All nucleic 60

cDNA 58

Primer pair 1

Other 1

Microarray probesets 6

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MGI:1921460, MGI:2138912, MGI:2443971

Summaries

All 53

Developmental Gene Expression 4

Gene Ontology 14

Phenotypes 16
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ttbk2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr25887	Chr2:120681104-120681116 (-)	-25 bp
Tssr25886	Chr2:120681088-120681099 (-)	-9 bp
Tssr25885	Chr2:120681079-120681084 (-)	3 bp
Tssr25884	Chr2:120680909-120680926 (-)	167 bp
Tssr25883	Chr2:120680870-120680898 (-)	201 bp
Tssr25882	Chr2:120680850-120680868 (-)	226 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