Col4a2 MGI Mouse Gene Detail - MGI:88455 - collagen, type IV, alpha 2

Symbol

Col4a2
Name

collagen, type IV, alpha 2
Synonyms

Col4a-2, MGC:7371

Feature Type

protein coding gene
IDs

MGI:88455
NCBI Gene: 12827
Alliance

genome feature page
Transcription Start Sites

19 TSS

Sequence Map

Chr8:11362878-11499287 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 5.62 cM
Mapping Data

8 experiments

SNPs within 2kb

3849 from dbSNP Build 142
Strain Annotations

19
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88455	protein coding gene	Chr8:11362805-11499287 (+)
129S1/SvImJ	ENSMUSG00200012311	protein coding gene	Chr8:8244336-8381289 (+)
A/J	ENSMUSG00195009945	protein coding gene	Chr8:8604225-8740732 (+)
AKR/J	ENSMUSG00220010574	protein coding gene	Chr8:8333512-8470016 (+)
BALB/cJ	ENSMUSG00180004330	protein coding gene	Chr8:8243318-8379820 (+)
C3H/HeJ	ENSMUSG00175007916	protein coding gene	Chr8:8396159-8532644 (+)
C57BL/6NJ	ENSMUSG00215007796	protein coding gene	Chr8:8277616-8414114 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030815	protein coding gene	Chr8:7757611-7895562 (+)
CAST/EiJ	ENSTCUG00005018965	protein coding gene	Chr8:8237575-8375001 (+)
CBA/J	ENSMUSG00210010717	protein coding gene	Chr8:8237164-8373654 (+)
DBA/2J	ENSMUSG00185003777	protein coding gene	Chr8:8369944-8506429 (+)
FVB/NJ	ENSMUSG00205004935	protein coding gene	Chr8:8262526-8399012 (+)
JF1/MsJ	ENSUMUG00000030588	protein coding gene	Chr8:8387872-8525130 (+)
LP/J	ENSMUSG00230021027	protein coding gene	Chr8:10547661-10684765 (+)
NOD/ShiLtJ	ENSMUSG00190011302	protein coding gene	Chr8:8362104-8498579 (+)
NZO/HlLtJ	ENSMUSG00225015439	protein coding gene	Chr8:18404388-18541339 (+)
PWK/PhJ	ENSLUMG00010010824	protein coding gene	Chr8:8306458-8443366 (+)
SPRET/EiJ	ENSMSPG00010016542	protein coding gene	Chr8:8435821-8572812 (+)
WSB/EiJ	ENSIUOG00005004096	protein coding gene	Chr8:8253816-8390721 (+)

Human Ortholog

COL4A2, collagen type IV alpha 2 chain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL4A2, collagen type IV alpha 2 chain
Synonyms

BSVD2, BSVD2A, BSVD2B, ICH, POREN2
Links

HGNC:2203

NCBI Gene ID: 1284

UniProt: P08572
Chr Location

13q34; chr13:110305812-110513209 (+) GRCh38

MGI Vertebrate Homology

Col4a2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COL4A2
Gene Tree

Col4a2

Diseases

5 with human COL4A2 associations

				Human Disease	Mouse Models
				atherosclerosis IDs atherosclerosis DOID:1936 EFO:0003914 ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C35768 UMLS_CUI:C0004153
				autosomal dominant brain small vessel disease 2A IDs autosomal dominant brain small vessel disease 2A DOID:0112314 OMIM:614483
				autosomal recessive brain small vessel disease 2B IDs autosomal recessive brain small vessel disease 2B DOID:0061233 OMIM:621414
				porencephaly IDs porencephaly DOID:0060263 ICD10CM:Q04.6 MESH:D065708 ORDO:2940 UMLS_CUI:C0302892 UMLS_CUI:C1867983 UMLS_CUI:C3698507
				uterine fibroid IDs uterine fibroid DOID:13223 EFO:0000731 ICD10CM:D25 ICD9CM_2006:218 ICD9CM:218 ICD9CM:218.9 MESH:D007889 NCI:C3434 OMIM:150699 UMLS_CUI:C0042133

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

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Phenotype Summary

73 phenotypes from 4 alleles in 4 genetic backgrounds
22 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

12
Chemically induced (ENU)

3
Endonuclease-mediated

4
Gene trapped

4
Targeted

1
Genomic Mutations

1 involving Col4a2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

75 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.

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All GO Annotations

29
GO References

18

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

720
Tissues

77
cDNA Data

304
Literature Summary

53

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase col4a2

ZFIN col4a2

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All Sequences

52
RefSeq

2
UniProt

2
CCDS

CCDS40220.1

Ensembl

ENSMUSG00000031503 (Evidence)
NCBI Gene

12827

			Length	Strain/Species	Flank
genomic	12827	NCBI Gene Model \| MGI Sequence Detail	136410	C57BL/6J	± kb
transcript	NM_009932	RefSeq \| MGI Sequence Detail	6377	C57BL/6
polypeptide	P08122	UniProt \| EBI \| MGI Sequence Detail	1707	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005714 collagen alpha-2(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

P08122 10 sites

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All nucleic 318

Genomic 5

cDNA 307

Primer pair 4

Other 2

Antibodies 9

Microarray probesets 3

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MGD-MRK-2067, MGD-MRK-2069, MGI:2142691

Summaries

All 152

Developmental Gene Expression 53

Gene Ontology 18

Phenotypes 22
Earliest

J:21950 Favor J, A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983 Aug;110(2):367-82
Latest

J:372530 Gawlik KI, et al., Laminin gamma1 chain is essential for the cardiorespiratory and muscular systems. Matrix Biol. 2025 Aug 23;

TSS for Col4a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr76193	Chr8:11362508-11362531 (+)	-358 bp
Tssr76194	Chr8:11362532-11362557 (+)	-333 bp
Tssr76195	Chr8:11362860-11362867 (+)	-14 bp
Tssr76196	Chr8:11362869-11362887 (+)	0 bp
Tssr76197	Chr8:11375485-11375492 (+)	12,611 bp
Tssr76198	Chr8:11375581-11375600 (+)	12,713 bp
Tssr76199	Chr8:11386213-11386224 (+)	23,341 bp
Tssr76200	Chr8:11402046-11402061 (+)	39,176 bp
Tssr76201	Chr8:11404318-11404330 (+)	41,446 bp
Tssr76202	Chr8:11448668-11448681 (+)	85,797 bp
Tssr76203	Chr8:11448757-11448768 (+)	85,885 bp
Tssr76204	Chr8:11456821-11456825 (+)	93,945 bp
Tssr2487	Chr8:11458104-11458115 (+)	95,232 bp
Tssr2488	Chr8:11473562-11473564 (+)	110,685 bp
Tssr76205	Chr8:11481090-11481101 (+)	118,218 bp
Tssr76206	Chr8:11498154-11498168 (+)	135,283 bp
Tssr76207	Chr8:11498495-11498557 (+)	135,648 bp
Tssr76208	Chr8:11498969-11499001 (+)	136,107 bp
Tssr76209	Chr8:11499034-11499045 (+)	136,162 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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