Tbc1d20 MGI Mouse Gene Detail - MGI:1914481 - TBC1 domain family, member 20

Symbol

Tbc1d20
Name

TBC1 domain family, member 20
Synonyms

1110028I04Rik, 2810442O16Rik, bs

Feature Type

protein coding gene
IDs

MGI:1914481
NCBI Gene: 67231
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr2:152135748-152155916 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 74.83 cM, cytoband H1
Mapping Data

7 experiments

SNPs within 2kb

416 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914481	protein coding gene	Chr2:152135745-152155916 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026654	protein coding gene	Chr2:156820538-156842153 (+)
A/J	MGP_AJ_G0026620	protein coding gene	Chr2:150574468-150597033 (+)
AKR/J	MGP_AKRJ_G0026590	protein coding gene	Chr2:154970345-154992014 (+)
BALB/cJ	MGP_BALBcJ_G0026629	protein coding gene	Chr2:150885583-150905261 (+)
C3H/HeJ	MGP_C3HHeJ_G0026372	protein coding gene	Chr2:155355627-155375967 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027078	protein coding gene	Chr2:161404195-161424244 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024449	protein coding gene	Chr2:144168099-144188793 (+)
CAST/EiJ	MGP_CASTEiJ_G0025833	protein coding gene	Chr2:155578129-155610647 (+)
CBA/J	MGP_CBAJ_G0026350	protein coding gene	Chr2:167306892-167336863 (+)
DBA/2J	MGP_DBA2J_G0026486	protein coding gene	Chr2:149793342-149813502 (+)
FVB/NJ	MGP_FVBNJ_G0026451	protein coding gene	Chr2:148233536-148253473 (+)
LP/J	MGP_LPJ_G0026590	protein coding gene	Chr2:156990586-157010884 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026473	protein coding gene	Chr2:171424926-171447852 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027133	protein coding gene	Chr2:154845847-154868521 (+)
PWK/PhJ	MGP_PWKPhJ_G0025567	protein coding gene	Chr2:149311444-149331901 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025370	protein coding gene	Chr2:153684453-153704502 (+)
WSB/EiJ	MGP_WSBEiJ_G0025903	protein coding gene	Chr2:155776501-155797260 (+)

Human Ortholog

TBC1D20, TBC1 domain family member 20

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBC1D20, TBC1 domain family member 20
Synonyms

C20orf140, WARBM4
Links

HGNC:16133

NCBI Gene ID: 128637

neXtProt AC: NX_Q96BZ9

UniProt: Q96BZ9
Chr Location

20p13; chr20:423596-462566 (-) GRCh38

MGI Vertebrate Homology

Tbc1d20 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TBC1D20
Gene Tree

Tbc1d20

Diseases

1 with Tbc1d20 mouse models; 1 with human TBC1D20 associations

Human Disease

Mouse Models

Warburg micro syndrome 4

IDs

View 2 models

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

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

34 phenotypes from 3 alleles in 4 genetic backgrounds
1 images
18 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

6
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Radiation induced

1
Spontaneous

1
Genomic Mutations

2 involving Tbc1d20
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

20 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutants have bilateral cataracts, small eyes, glossy coats, and are male sterile.

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All GO Annotations

36
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.

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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

16

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbc1d20, tbc1d20.2

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All Sequences

95
RefSeq

4
UniProt

7
CCDS

CCDS16880.1

Ensembl

ENSMUSG00000027465 (Evidence)
NCBI Gene

67231

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027465	Ensembl Gene Model \| MGI Sequence Detail	20169	C57BL/6J	± kb
transcript	ENSMUST00000028963	Ensembl \| MGI Sequence Detail	3386	Not Applicable
polypeptide	ENSMUSP00000028963	Ensembl \| MGI Sequence Detail	402	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000016104 TBC1 domain family member 20

(term hierarchy)
InterPro Domains

IPR045913 GTPase-activating protein TBC20/Gyp8-like

IPR000195 Rab-GAP-TBC domain

IPR035969 Rab-GAP-TBC domain superfamily
GlyGen

Q9D9I4 1 site, 1 N-linked glycan (1 site)

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All nucleic 17

cDNA 17

Microarray probesets 6

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MGD-MRK-1673, MGI:1923567, MGI:2138929, MGI:88207

Summaries

All 42

Diseases 2

Gene Ontology 5

Phenotypes 18
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 Tbc1d20:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20785	Chr2:152135751-152135781 (+)	18 bp
Tssr20786	Chr2:152135783-152135804 (+)	46 bp
Tssr20787	Chr2:152135899-152135922 (+)	163 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