Tmem63a MGI Mouse Gene Detail - MGI:2384789

Symbol

Tmem63a
Name

transmembrane protein 63a
Synonyms

MGC:11687, MGC:25803

Feature Type

protein coding gene
IDs

MGI:2384789
NCBI Gene: 208795
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr1:180769909-180802677 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 84.46 cM
Mapping Data

2 experiments

SNPs within 2kb

1109 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384789	protein coding gene	Chr1:180769899-180802677 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016879	protein coding gene	Chr1:187426541-187459222 (+)
A/J	MGP_AJ_G0016858	protein coding gene	Chr1:179833262-179868304 (+)
AKR/J	MGP_AKRJ_G0016824	protein coding gene	Chr1:185177827-185213952 (+)
BALB/cJ	MGP_BALBcJ_G0016816	protein coding gene	Chr1:180456179-180489517 (+)
C3H/HeJ	MGP_C3HHeJ_G0016641	protein coding gene	Chr1:185954473-185988198 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017279	protein coding gene	Chr1:193476384-193547334 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014987	protein coding gene	Chr1:170807482-170841456 (+)
CAST/EiJ	MGP_CASTEiJ_G0016222	protein coding gene	Chr1:185296657-185333449 (+)
CBA/J	MGP_CBAJ_G0016615	protein coding gene	Chr1:200647381-200679681 (+)
DBA/2J	MGP_DBA2J_G0016721	protein coding gene	Chr1:178668316-178701781 (+)
FVB/NJ	MGP_FVBNJ_G0016717	protein coding gene	Chr1:176768005-176801830 (+)
LP/J	MGP_LPJ_G0016795	protein coding gene	Chr1:188676260-188709262 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016748	protein coding gene	Chr1:207811591-207846905 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017316	protein coding gene	Chr1:184956188-184992575 (+)
PWK/PhJ	MGP_PWKPhJ_G0016010	protein coding gene	Chr1:177783330-177818365 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015786	protein coding gene	Chr1:183892815-183928881 (+)
WSB/EiJ	MGP_WSBEiJ_G0016285	protein coding gene	Chr1:185159499-185195562 (+)

Human Ortholog

TMEM63A, transmembrane protein 63A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMEM63A, transmembrane protein 63A
Synonyms

HLD19, KIAA0792
Links

HGNC:29118

NCBI Gene ID: 9725

neXtProt AC: NX_O94886

UniProt: O94886
Chr Location

1q42.12; chr1:225840556-225882380 (-) GRCh38

MGI Vertebrate Homology

Tmem63a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TMEM63A
Gene Tree

Tmem63a

Diseases

1 with human TMEM63A associations

				Human Disease	Mouse Models
				hypomyelinating leukodystrophy 19 IDs hypomyelinating leukodystrophy 19 DOID:0070400 OMIM:618688

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

less

Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
12 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

18
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

10
Targeted

2
Genomic Mutations

2 involving Tmem63a
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

60 strains or lines available

less

All GO Annotations

20
GO References

11

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

706
cDNA Data

54

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tmem63a

less

All Sequences

76
RefSeq

20
UniProt

6
CCDS

CCDS15578.1

Ensembl

ENSMUSG00000026519 (Evidence)
NCBI Gene

208795

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026519	Ensembl Gene Model \| MGI Sequence Detail	32769	C57BL/6J	± kb
transcript	ENSMUST00000027800	Ensembl \| MGI Sequence Detail	3306	Not Applicable
polypeptide	ENSMUSP00000027800	Ensembl \| MGI Sequence Detail	804	Not Applicable

less

UniProt

6 Sequences
Protein Ontology

PR:000030450 CSC1-like protein 1

(term hierarchy)
InterPro Domains

IPR045122 Calcium permeable stress-gated cation channel 1-like

IPR003864 CSC1/OSCA1-like, 7TM region

IPR027815 CSC1/OSCA1-like, cytosolic domain

IPR032880 CSC1/OSCA1-like, N-terminal transmembrane domain

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR035979 RNA-binding domain superfamily
GlyGen

Q91YT8 6 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

less

All nucleic 54

cDNA 54

Microarray probesets 3

Summaries

All 43

Gene Ontology 11

Phenotypes 12
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:346997 Chen GL, et al., Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion. J Clin Invest. 2024 Dec 21;134(5):e174508

TSS for Tmem63a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10503	Chr1:180769890-180769917 (+)	-5 bp
Tssr10504	Chr1:180769924-180769933 (+)	20 bp
Tssr10505	Chr1:180769999-180770010 (+)	96 bp
Tssr10506	Chr1:180770017-180770042 (+)	121 bp
Tssr10507	Chr1:180770065-180770094 (+)	171 bp
Tssr324	Chr1:180771622-180771636 (+)	1,720 bp
Tssr10508	Chr1:180773463-180773490 (+)	3,568 bp
Tssr10509	Chr1:180780242-180780250 (+)	10,337 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