Tmem53 MGI Mouse Gene Detail - MGI:1916027

Symbol

Tmem53
Name

transmembrane protein 53
Synonyms

1110038M16Rik, 1500001P22Rik, 1700012A05Rik

Feature Type

protein coding gene
IDs

MGI:1916027
NCBI Gene: 68777
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr4:117109148-117125779 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 53.43 cM, cytoband D1
Mapping Data

2 experiments

SNPs within 2kb

514 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916027	protein coding gene	Chr4:117109148-117125785 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028649	protein coding gene	Chr4:118222510-118241963 (+)
A/J	MGP_AJ_G0028610	protein coding gene	Chr4:113657876-113673957 (+)
AKR/J	MGP_AKRJ_G0028560	protein coding gene	Chr4:116143115-116163744 (+)
BALB/cJ	MGP_BALBcJ_G0028631	protein coding gene	Chr4:114288538-114306006 (+)
C3H/HeJ	MGP_C3HHeJ_G0028345	protein coding gene	Chr4:117730780-117754827 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029072	protein coding gene	Chr4:122783835-122811436 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026356	protein coding gene	Chr4:107701062-107716677 (+)
CAST/EiJ	MGP_CASTEiJ_G0027779	protein coding gene	Chr4:114932436-114952756 (+)
CBA/J	MGP_CBAJ_G0028312	protein coding gene	Chr4:126145378-126163887 (+)
DBA/2J	MGP_DBA2J_G0028460	protein coding gene	Chr4:114292397-114308230 (+)
FVB/NJ	MGP_FVBNJ_G0028428	protein coding gene	Chr4:112799121-112815897 (+)
LP/J	MGP_LPJ_G0028562	protein coding gene	Chr4:118400574-118417763 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028455	protein coding gene	Chr4:131087797-131108052 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029109	protein coding gene	Chr4:117296713-117314782 (+)
PWK/PhJ	MGP_PWKPhJ_G0027505	protein coding gene	Chr4:111099460-111116002 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027328	protein coding gene	Chr4:113614646-113632467 (+)
WSB/EiJ	MGP_WSBEiJ_G0027858	protein coding gene	Chr4:117175771-117196195 (+)

Human Ortholog

TMEM53, transmembrane protein 53

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMEM53, transmembrane protein 53
Synonyms

CTDI, NET4
Links

HGNC:26186

NCBI Gene ID: 79639

neXtProt AC: NX_Q6P2H8

UniProt: Q6P2H8
Chr Location

1p34.1; chr1:44635238-44674481 (-) GRCh38

MGI Vertebrate Homology

Tmem53 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMEM53
Gene Tree

Tmem53

Diseases

1 with Tmem53 mouse models; 1 with human TMEM53 associations

Human Disease

Mouse Models

craniotubular dysplasia Ikegawa type

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

18 phenotypes from 3 alleles in 1 genetic background
11 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

11
Chemically induced (other)

2
Endonuclease-mediated

6
Radiation induced

1
Targeted

2
Genomic Mutations

4 involving Tmem53
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

12
GO References

4

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

712
Tissues

6
cDNA Data

35
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmem53

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All Sequences

55
RefSeq

14
UniProt

2
CCDS

CCDS18533.1, CCDS71453.1, CCDS71454.1

Ensembl

ENSMUSG00000048772 (Evidence)
NCBI Gene

68777

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048772	Ensembl Gene Model \| MGI Sequence Detail	16632	C57BL/6J	± kb
transcript	ENSMUST00000106434	Ensembl \| MGI Sequence Detail	923	Not Applicable
polypeptide	ENSMUSP00000102042	Ensembl \| MGI Sequence Detail	283	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000031747 transmembrane protein 53

(term hierarchy)
InterPro Domains

IPR029058 Alpha/Beta hydrolase fold

IPR008547 Protein of unknown function DUF829, TMEM53

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All nucleic 37

cDNA 35

Primer pair 1

Other 1

Microarray probesets 3

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MGI:1916223, MGI:1923634

Summaries

All 33

Developmental Gene Expression 1

Diseases 1

Gene Ontology 4

Phenotypes 11
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:306057 Guo L, et al., Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021 Apr 6;12(1):2046

TSS for Tmem53:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38609	Chr4:117109174-117109201 (+)	40 bp
Tssr38610	Chr4:117109207-117109254 (+)	83 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