Tbc1d12 MGI Mouse Gene Detail - MGI:2384803 - TBC1D12: TBC1 domain family, member 12

Symbol

Tbc1d12
Name

TBC1D12: TBC1 domain family, member 12
Synonyms

MGC:38216

Feature Type

protein coding gene
IDs

MGI:2384803
NCBI Gene: 209478
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr19:38825035-38908103 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 33.47 cM
Mapping Data

2 experiments

SNPs within 2kb

1849 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384803	protein coding gene	Chr19:38825023-38908367 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025095	protein coding gene	Chr19:37925211-38017440 (+)
A/J	MGP_AJ_G0025071	protein coding gene	Chr19:36087755-36171477 (+)
AKR/J	MGP_AKRJ_G0025039	protein coding gene	Chr19:37276156-37372097 (+)
BALB/cJ	MGP_BALBcJ_G0025069	protein coding gene	Chr19:36185632-36269348 (+)
C3H/HeJ	MGP_C3HHeJ_G0024828	protein coding gene	Chr19:37396701-37484374 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025510	protein coding gene	Chr19:38999731-39087841 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022929	protein coding gene	Chr19:35406038-35481680 (+)
CAST/EiJ	MGP_CASTEiJ_G0024295	protein coding gene	Chr19:37253193-37349822 (+)
CBA/J	MGP_CBAJ_G0024805	protein coding gene	Chr19:40837258-40956702 (+)
DBA/2J	MGP_DBA2J_G0024937	protein coding gene	Chr19:35920951-36006408 (+)
FVB/NJ	MGP_FVBNJ_G0024898	protein coding gene	Chr19:35752364-35834905 (+)
LP/J	MGP_LPJ_G0025023	protein coding gene	Chr19:38007778-38096189 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024929	protein coding gene	Chr19:40566569-40663543 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025568	protein coding gene	Chr19:37408908-37500299 (+)
PWK/PhJ	MGP_PWKPhJ_G0024047	protein coding gene	Chr19:35797541-35883434 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023847	protein coding gene	Chr19:36242768-36328136 (+)
WSB/EiJ	MGP_WSBEiJ_G0024362	protein coding gene	Chr19:37497561-37583621 (+)

Human Ortholog

TBC1D12, TBC1 domain family member 12

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBC1D12, TBC1 domain family member 12
Links

HGNC:29082

NCBI Gene ID: 23232

neXtProt AC: NX_O60347

UniProt: O60347
Chr Location

10q23.33; chr10:94402541-94536332 (+) GRCh38

MGI Vertebrate Homology

Tbc1d12 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TBC1D12
Gene Tree

Tbc1d12

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
9 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

20
Endonuclease-mediated

2
Gene trapped

15
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

6
GO References

3

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

706
cDNA Data

28

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbc1d12

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All Sequences

45
RefSeq

5
UniProt

5
CCDS

CCDS37975.1, CCDS89387.1

Ensembl

ENSMUSG00000048720 (Evidence)
NCBI Gene

209478

			Length	Strain/Species	Flank
genomic	209478	NCBI Gene Model \| MGI Sequence Detail	83069	C57BL/6J	± kb
transcript	NR_175806	RefSeq \| MGI Sequence Detail	4052	C57BL/6
polypeptide	Q6A039	UniProt \| EBI \| MGI Sequence Detail	696	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000016096 TBC1 domain family member 12

(term hierarchy)
InterPro Domains

IPR000195 Rab-GAP-TBC domain

IPR035969 Rab-GAP-TBC domain superfamily

IPR050302 Rab GTPase-activating TBC domain-containing protein

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All nucleic 28

cDNA 28

Microarray probesets 3

Summaries

All 31

Gene Ontology 3

Phenotypes 9
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

TSS for Tbc1d12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr156268	Chr19:38825005-38825056 (+)	-4 bp
Tssr156269	Chr19:38825121-38825136 (+)	94 bp
Tssr156270	Chr19:38825143-38825151 (+)	112 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)
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