Tbck MGI Mouse Gene Detail - MGI:2445052 - TBC1 domain containing kinase

Symbol

Tbck
Name

TBC1 domain containing kinase
Synonyms

1700120J03Rik, A630047E20Rik, C030007I09Rik

Feature Type

protein coding gene
IDs

MGI:2445052
NCBI Gene: 271981
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr3:132389905-132547449 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 61.49 cM
Mapping Data

2 experiments

SNPs within 2kb

4667 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2445052	protein coding gene	Chr3:132389874-132547451 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027893	protein coding gene	Chr3:135458612-135625103 (+)
A/J	MGP_AJ_G0027851	protein coding gene	Chr3:130682184-130839998 (+)
AKR/J	MGP_AKRJ_G0027816	protein coding gene	Chr3:134096049-134251809 (+)
BALB/cJ	MGP_BALBcJ_G0027864	protein coding gene	Chr3:130514124-130670500 (+)
C3H/HeJ	MGP_C3HHeJ_G0027593	protein coding gene	Chr3:134487137-134643053 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028307	protein coding gene	Chr3:140218105-140383424 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025645	protein coding gene	Chr3:126122295-126271788 (+)
CAST/EiJ	MGP_CASTEiJ_G0027049	protein coding gene	Chr3:134233584-134394745 (+)
CBA/J	MGP_CBAJ_G0027569	protein coding gene	Chr3:144951724-145122990 (+)
DBA/2J	MGP_DBA2J_G0027709	protein coding gene	Chr3:129853243-130005168 (+)
FVB/NJ	MGP_FVBNJ_G0027676	protein coding gene	Chr3:127428745-127577355 (+)
LP/J	MGP_LPJ_G0027819	protein coding gene	Chr3:136944975-137104081 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027707	protein coding gene	Chr3:152918874-153091631 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028365	protein coding gene	Chr3:133759907-133921552 (+)
PWK/PhJ	MGP_PWKPhJ_G0026773	protein coding gene	Chr3:129612967-129772103 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026598	protein coding gene	Chr3:131834214-131990533 (+)
WSB/EiJ	MGP_WSBEiJ_G0027128	protein coding gene	Chr3:134523030-134681134 (+)

Human Ortholog

TBCK, TBC1 domain containing kinase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBCK, TBC1 domain containing kinase
Synonyms

FERRY1, Fy-1, HSPC302, IHPRF3, TBCKL
Links

HGNC:28261

NCBI Gene ID: 93627

neXtProt AC: NX_Q8TEA7

UniProt: Q8TEA7
Chr Location

4q24; chr4:106041599-106316683 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: TBCK
Gene Tree

Tbck

Diseases

1 with human TBCK associations

				Human Disease	Mouse Models
				infantile hypotonia with psychomotor retardation and characteristic facies-3 IDs infantile hypotonia with psychomotor retardation and characteristic facies-3 DOID:0060935 OMIM:616900 ORDO:488632 UMLS_CUI:C5567480

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

References

1 with disease annotations

less

Phenotype Summary

7 phenotypes from 1 allele in 2 genetic backgrounds
14 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

15
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

9
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Tbck
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

53 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are embryonic lethal. Heterozygotes exhibit reduced exploratory behavior often with sex-specific differences.

less

All GO Annotations

13
GO References

4

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

744
Tissues

31
cDNA Data

14
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbck

ZFIN tbck

less

All Sequences

48
RefSeq

8
UniProt

2
CCDS

CCDS38643.1, CCDS51070.1

Ensembl

ENSMUSG00000028030 (Evidence)
NCBI Gene

271981

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028030	Ensembl Gene Model \| MGI Sequence Detail	157545	C57BL/6J	± kb
transcript	ENSMUST00000169172	Ensembl \| MGI Sequence Detail	6578	Not Applicable
polypeptide	ENSMUSP00000129205	Ensembl \| MGI Sequence Detail	893	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000029782 TBC domain-containing protein kinase-like protein

(term hierarchy)
InterPro Domains

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR000195 Rab-GAP-TBC domain

IPR035969 Rab-GAP-TBC domain superfamily

IPR001763 Rhodanese-like domain

IPR036873 Rhodanese-like domain superfamily

less

All nucleic 14

cDNA 14

Microarray probesets 4

less

MGI:1921563, MGI:1924592

Summaries

All 37

Developmental Gene Expression 2

Diseases 1

Gene Ontology 4

Phenotypes 14
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Tbck:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr31756	Chr3:132389867-132389906 (+)	-18 bp
Tssr31757	Chr3:132389920-132389952 (+)	31 bp
Tssr31758	Chr3:132430182-132430193 (+)	40,283 bp
Tssr31759	Chr3:132443180-132443187 (+)	53,279 bp
Tssr31760	Chr3:132449406-132449409 (+)	59,503 bp
Tssr31762	Chr3:132520749-132520760 (+)	130,850 bp
Tssr31763	Chr3:132523823-132523828 (+)	133,921 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