Cwh43 MGI Mouse Gene Detail - MGI:2444131 - cell wall biogenesis 43 C-terminal homolog

Symbol

Cwh43
Name

cell wall biogenesis 43 C-terminal homolog
Synonyms

C130090K23Rik

Feature Type

protein coding gene
IDs

MGI:2444131
NCBI Gene: 231293
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr5:73563418-73610778 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 38.78 cM
Mapping Data

1 experiment

SNPs within 2kb

1535 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444131	protein coding gene	Chr5:73563394-73610778 (+)
129S1/SvImJ	ENSMUSG00200035136	protein coding gene	Chr5:69221701-69270043 (+)
A/J	ENSMUSG00195032144	protein coding gene	Chr5:68545872-68594328 (+)
AKR/J	ENSMUSG00220003063	protein coding gene	Chr5:68656539-68705008 (+)
BALB/cJ	ENSMUSG00180022272	protein coding gene	Chr5:68302885-68351348 (+)
C3H/HeJ	ENSMUSG00175027227	protein coding gene	Chr5:70371943-70420240 (+)
C57BL/6NJ	ENSMUSG00215004938	protein coding gene	Chr5:69137734-69186018 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027296	protein coding gene	Chr5:66354404-66401689 (+)
CAST/EiJ	ENSTCUG00005029800	protein coding gene	Chr5:68114896-68163000 (+)
CBA/J	ENSMUSG00210022793	protein coding gene	Chr5:69310041-69358337 (+)
DBA/2J	ENSMUSG00185016214	protein coding gene	Chr5:71139832-71188134 (+)
FVB/NJ	ENSMUSG00205029257	protein coding gene	Chr5:68069828-68118286 (+)
JF1/MsJ	ENSUMUG00000002915	protein coding gene	Chr5:75622550-75677860 (+)
LP/J	ENSMUSG00230017594	protein coding gene	Chr5:75795984-75844301 (+)
NOD/ShiLtJ	ENSMUSG00190004069	protein coding gene	Chr5:68238680-68286974 (+)
NZO/HlLtJ	ENSMUSG00225008618	protein coding gene	Chr5:80866082-80914512 (+)
PWK/PhJ	ENSLUMG00010012462	protein coding gene	Chr5:68193136-68237951 (+)
SPRET/EiJ	ENSMSPG00010029360	protein coding gene	Chr5:70201020-70245486 (+)
WSB/EiJ	ENSIUOG00005017415	protein coding gene	Chr5:71083123-71131514 (+)

Human Ortholog

CWH43, cell wall biogenesis 43 C-terminal homolog

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CWH43, cell wall biogenesis 43 C-terminal homolog
Synonyms

CWH43-C, PGAP2IP
Links

HGNC:26133

NCBI Gene ID: 80157

UniProt: Q9H720
Chr Location

4p11; chr4:48986162-49062093 (+) GRCh38

MGI Vertebrate Homology

Cwh43 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CWH43
Gene Tree

Cwh43

Diseases

1 with Cwh43 mouse models

Human Disease

Mouse Models

normal pressure hydrocephalus

IDs

View 3 models

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

Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 4 alleles in 4 genetic backgrounds
30 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)

2
Endonuclease-mediated

7
Gene trapped

2
Radiation induced

1
Spontaneous

1
Targeted

2
Genomic Mutations

4 involving Cwh43
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Male mice homozygous for a null allele exhibit normal fertility.

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All GO Annotations

26
GO References

5

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

599
Tissues

2
cDNA Data

15
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

41
RefSeq

11
UniProt

1
CCDS

CCDS19341.1

Ensembl

ENSMUSG00000029154 (Evidence)
NCBI Gene

231293

			Length	Strain/Species	Flank
genomic	ENSMUSG00000029154	Ensembl Gene Model \| MGI Sequence Detail	47361	C57BL/6J	± kb
transcript	ENSMUST00000031040	Ensembl \| MGI Sequence Detail	2716	Not Applicable
polypeptide	ENSMUSP00000031040	Ensembl \| MGI Sequence Detail	699	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012596 PGAP2-interacting protein

(term hierarchy)
InterPro Domains

IPR036691 Endonuclease/exonuclease/phosphatase superfamily

IPR051916 GPI-anchor maturation lipid remodeler

IPR057315 PGAP2IP, C-terminal nuclease-like domain

IPR053912 PGAP2IP, first transmembrane domain

IPR053911 PGAP2IP, second transmembrane domain
GlyGen

Q91YL7 1 site

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All nucleic 15

cDNA 15

Microarray probesets 2

Summaries

All 49

Developmental Gene Expression 1

Diseases 1

Gene Ontology 5

Phenotypes 30
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

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

TSS for Cwh43:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr46643	Chr5:73563561-73563611 (+)	168 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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