Col4a3 MGI Mouse Gene Detail - MGI:104688 - collagen, type IV, alpha 3

Symbol

Col4a3
Name

collagen, type IV, alpha 3
Synonyms

alpha3(IV), tumstatin

Feature Type

protein coding gene
IDs

MGI:104688
NCBI Gene: 12828
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr1:82564647-82699778 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 42.32 cM
Mapping Data

3 experiments

SNPs within 2kb

4077 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104688	protein coding gene	Chr1:82564642-82699780 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016217	protein coding gene	Chr1:83499096-83643160 (+)
A/J	MGP_AJ_G0016200	protein coding gene	Chr1:80534490-80674710 (+)
AKR/J	MGP_AKRJ_G0016157	protein coding gene	Chr1:82721041-82868288 (+)
BALB/cJ	MGP_BALBcJ_G0016155	protein coding gene	Chr1:80604134-80818419 (+)
C3H/HeJ	MGP_C3HHeJ_G0015985	protein coding gene	Chr1:83115064-83254104 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016608	protein coding gene	Chr1:86718767-86869638 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014328	protein coding gene	Chr1:75764915-75895165 (+)
CAST/EiJ	MGP_CASTEiJ_G0015571	protein coding gene	Chr1:82522534-82674934 (+)
CBA/J	MGP_CBAJ_G0015959	protein coding gene	Chr1:89493165-89656944 (+)
DBA/2J	MGP_DBA2J_G0016060	protein coding gene	Chr1:79827467-79962368 (+)
FVB/NJ	MGP_FVBNJ_G0016063	protein coding gene	Chr1:78923403-79058412 (+)
LP/J	MGP_LPJ_G0016133	protein coding gene	Chr1:84620808-84758670 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016083	protein coding gene	Chr1:92900251-93051932 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016655	protein coding gene	Chr1:82898335-83038841 (+)
PWK/PhJ	MGP_PWKPhJ_G0015356	protein coding gene	Chr1:79261566-79403936 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015134	protein coding gene	Chr1:82096325-82237204 (+)
WSB/EiJ	MGP_WSBEiJ_G0015631	protein coding gene	Chr1:82691702-82839113 (+)

Human Ortholog

COL4A3, collagen type IV alpha 3 chain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL4A3, collagen type IV alpha 3 chain
Synonyms

ATS2, ATS3, ATS3A, ATS3B, BFH2
Links

HGNC:2204

NCBI Gene ID: 1285

neXtProt AC: NX_Q01955

UniProt: Q01955
Chr Location

2q36.3; chr2:227164624-227314792 (+) GRCh38

MGI Vertebrate Homology

Col4a3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COL4A3
Gene Tree

Col4a3

Diseases

1 with Col4a3 mouse models; 5 with human COL4A3 associations

Human Disease

Mouse Models

autosomal recessive Alport syndrome

IDs

View 5 models

Alport syndrome

IDs

autosomal dominant Alport syndrome

IDs

benign familial hematuria

IDs

end stage renal disease

IDs

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

Mutations/Alleles

2 with disease annotations

References

6 with disease annotations

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Phenotype Summary

53 phenotypes from 4 alleles in 7 genetic backgrounds
22 phenotypes from multigenic genotypes
3 images
100 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)

1
Endonuclease-mediated

5
Radiation induced

1
Targeted

8
Genomic Mutations

2 involving Col4a3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

62 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies.

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All GO Annotations

32
GO References

14

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

834
Tissues

93
cDNA Data

16
Literature Summary

31

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN col4a3

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All Sequences

41
RefSeq

4
UniProt

3
CCDS

CCDS35631.1

Ensembl

ENSMUSG00000079465 (Evidence)
NCBI Gene

12828

			Length	Strain/Species	Flank
genomic	12828	NCBI Gene Model \| MGI Sequence Detail	135132	C57BL/6J	± kb
transcript	NM_007734	RefSeq \| MGI Sequence Detail	8342	C57BL/6
polypeptide	Q9QZS0	UniProt \| EBI \| MGI Sequence Detail	1669	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005715 collagen alpha-3(IV) chain

(term hierarchy)
InterPro Domains

IPR001442 Collagen IV, non-collagenous

IPR036954 Collagen IV, non-collagenous domain superfamily

IPR050149 Collagen superfamily

IPR008160 Collagen triple helix repeat

IPR016187 C-type lectin fold
GlyGen

Q9QZS0 2 sites

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All nucleic 22

Genomic 1

cDNA 17

Primer pair 3

Other 1

Microarray probesets 5

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MGD-MRK-27051

Summaries

All 173

Developmental Gene Expression 31

Diseases 6

Gene Ontology 14

Phenotypes 100
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:354275 Duara J, et al., Oxysterol-binding protein-like 7 deficiency leads to ER stress-mediated apoptosis in podocytes and proteinuria. Am J Physiol Renal Physiol. 2024 Sep 1;327(3):F340-F350

TSS for Col4a3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7615	Chr1:82564630-82564659 (+)	-2 bp
Tssr7616	Chr1:82564663-82564709 (+)	39 bp
Tssr7617	Chr1:82564864-82564877 (+)	224 bp
Tssr7618	Chr1:82564894-82564913 (+)	257 bp
Tssr133	Chr1:82564921-82564926 (+)	277 bp
Tssr7619	Chr1:82564948-82564957 (+)	306 bp
Tssr7620	Chr1:82581767-82581778 (+)	17,126 bp
Tssr7621	Chr1:82581794-82581814 (+)	17,157 bp
Tssr7622	Chr1:82654105-82654111 (+)	89,461 bp
Tssr7623	Chr1:82696653-82696659 (+)	132,009 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