C3 MGI Mouse Gene Detail - MGI:88227 - complement component 3

Symbol

C3
Name

complement component 3
Synonyms

acylation stimulating protein, complement factor 3, Plp

Feature Type

protein coding gene
IDs

MGI:88227
NCBI Gene: 12266
Alliance

gene page
Transcription Start Sites

55 TSS

Sequence Map

Chr17:57510970-57535136 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 29.72 cM, cytoband E1-E3
Mapping Data

41 experiments

SNPs within 2kb

687 from dbSNP Build 142
Strain Annotations

18
RFLP

7

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88227	protein coding gene	Chr17:57510967-57535136 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023959	protein coding gene	Chr17:58971369-59001221 (-)
A/J	MGP_AJ_G0023917	protein coding gene	Chr17:57335091-57359217 (-)
AKR/J	MGP_AKRJ_G0023886	protein coding gene	Chr17:58062465-58086584 (-)
BALB/cJ	MGP_BALBcJ_G0023918	protein coding gene	Chr17:57172948-57197061 (-)
C3H/HeJ	MGP_C3HHeJ_G0023682	protein coding gene	Chr17:58779408-58803383 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024364	protein coding gene	Chr17:61267678-61293597 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021810	protein coding gene	Chr17:53802779-53828080 (-)
CAST/EiJ	MGP_CASTEiJ_G0023164	protein coding gene	Chr17:59088416-59114439 (-)
CBA/J	MGP_CBAJ_G0023658	protein coding gene	Chr17:63662063-63689043 (-)
DBA/2J	MGP_DBA2J_G0023786	protein coding gene	Chr17:56025716-56050095 (-)
FVB/NJ	MGP_FVBNJ_G0023752	protein coding gene	Chr17:55604214-55628264 (-)
LP/J	MGP_LPJ_G0023868	protein coding gene	Chr17:59655620-59680444 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023780	protein coding gene	Chr17:63092197-63116217 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024408	protein coding gene	Chr17:58423657-58448824 (-)
PWK/PhJ	MGP_PWKPhJ_G0022910	protein coding gene	Chr17:55396411-55420853 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022721	protein coding gene	Chr17:55197617-55224500 (-)
WSB/EiJ	MGP_WSBEiJ_G0023230	protein coding gene	Chr17:59059143-59083996 (-)

Human Ortholog

C3, complement C3

Vertebrate Orthologs

7

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

C3, complement C3
Synonyms

AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
Links

HGNC:1318

NCBI Gene ID: 718

neXtProt AC: NX_P01024

UniProt: P01024
Chr Location

19p13.3; chr19:6677704-6730562 (-) GRCh38

MGI Vertebrate Homology

C3 stringent orthology
1 human;1 mouse;1 rat;5 zebrafish
HCOP

vertebrate homology predictions: C3
Gene Tree

C3

Diseases

1 with C3 mouse models; 13 with human C3 associations

Human Disease

Mouse Models

complement component 3 deficiency

IDs

View 3 models

age related macular degeneration 7

IDs

age related macular degeneration 9

IDs

Alzheimer's disease

IDs

asthma

IDs

atypical hemolytic-uremic syndrome

IDs

COVID-19

IDs

Kuhnt-Junius degeneration

IDs

macular degeneration

IDs

paroxysmal nocturnal hemoglobinuria

IDs

sickle cell anemia

IDs

silicosis

IDs

systemic lupus erythematosus

IDs

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

Mutations/Alleles

3 with disease annotations

References

3 with disease annotations

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Phenotype Summary

89 phenotypes from 3 alleles in 10 genetic backgrounds
41 phenotypes from multigenic genotypes
3 images
469 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
Endonuclease-mediated

8
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

103 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.

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All GO Annotations

61
GO References

24

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

855
Tissues

72
cDNA Data

423
Literature Summary

19

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase c3

ZFIN c3a.1, c3a.2, c3a.3, c3a.4, c3a.6

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All Sequences

51
RefSeq

4
UniProt

6
CCDS

CCDS37670.1

Ensembl

ENSMUSG00000024164 (Evidence)
NCBI Gene

12266

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024164	Ensembl Gene Model \| MGI Sequence Detail	24167	C57BL/6J	± kb
transcript	ENSMUST00000024988	Ensembl \| MGI Sequence Detail	5136	Not Applicable
polypeptide	ENSMUSP00000024988	Ensembl \| MGI Sequence Detail	1663	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004900 complement C3

(term hierarchy)
PDB

6XZU
InterPro Domains

IPR001599 Alpha-2-macroglobulin

IPR011625 Alpha-2-macroglobulin, bait region domain

IPR050473 Alpha-2-macroglobulin/Complement system

IPR019742 Alpha-2-macroglobulin, conserved site

IPR011626 Alpha-macroglobulin-like, TED domain

IPR047565 Alpha-macroglobulin-like, thiol-ester bond-forming region

IPR009048 Alpha-macroglobulin, receptor-binding

IPR036595 Alpha-macroglobulin, receptor-binding domain superfamily

IPR018081 Anaphylatoxin, complement system

IPR001840 Anaphylatoxin, complement system domain

IPR000020 Anaphylatoxin/fibulin

IPR041425 Complement C3/4/5, macroglobulin domain MG1

IPR035815 Complement C3-like, NTR domain

IPR049466 Complement component 3, CUB domain, first segment

IPR048848 Complement component 3, CUB domain, second segment

IPR013783 Immunoglobulin-like fold

IPR002890 Macroglobulin domain

IPR041555 Macroglobulin domain MG3

IPR040839 Macroglobulin domain MG4

IPR001134 Netrin domain

IPR018933 Netrin module, non-TIMP type

IPR008930 Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid

IPR008993 Tissue inhibitor of metalloproteinases-like, OB-fold
GlyGen

P01027 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 434

Genomic 1

cDNA 424

Primer pair 4

Other 5

Microarray probesets 3

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MGD-MRK-1700, MGI:2146809

Summaries

All 633

Developmental Gene Expression 19

Diseases 3

Gene Ontology 24

Phenotypes 469
Earliest

J:5960 Da Silva FP, et al., Murine complement component 3: genetic variation and linkage to H-2. Proc Natl Acad Sci U S A. 1978 Feb;75(2):963-5
Latest

J:358533 Song HJ, et al., Novel Role of the ALPI Gene Associated with Constipation Caused by Complement Component 3 Deficiency. Int J Mol Sci. 2024 Sep 2;25(17)

TSS for C3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr148967	Chr17:57535084-57535101 (-)	43 bp
Tssr148966	Chr17:57533813-57533853 (-)	1,303 bp
Tssr148965	Chr17:57533796-57533812 (-)	1,332 bp
Tssr148964	Chr17:57533285-57533298 (-)	1,844 bp
Tssr148963	Chr17:57533252-57533263 (-)	1,878 bp
Tssr148962	Chr17:57533200-57533225 (-)	1,923 bp
Tssr148961	Chr17:57533054-57533076 (-)	2,071 bp
Tssr148960	Chr17:57533017-57533034 (-)	2,110 bp
Tssr148959	Chr17:57532263-57532321 (-)	2,844 bp
Tssr148958	Chr17:57532103-57532115 (-)	3,027 bp
Tssr148957	Chr17:57531880-57531952 (-)	3,220 bp
Tssr148956	Chr17:57531352-57531366 (-)	3,777 bp
Tssr148955	Chr17:57531319-57531333 (-)	3,810 bp
Tssr148954	Chr17:57531172-57531188 (-)	3,956 bp
Tssr148953	Chr17:57531121-57531163 (-)	3,994 bp
Tssr148952	Chr17:57530937-57530982 (-)	4,176 bp
Tssr148951	Chr17:57530896-57530922 (-)	4,227 bp
Tssr148950	Chr17:57530855-57530893 (-)	4,262 bp
Tssr148949	Chr17:57530290-57530339 (-)	4,821 bp
Tssr148948	Chr17:57530235-57530283 (-)	4,877 bp
Tssr148947	Chr17:57530183-57530199 (-)	4,945 bp
Tssr148946	Chr17:57529944-57529949 (-)	5,189 bp
Tssr148945	Chr17:57529919-57529937 (-)	5,208 bp
Tssr148944	Chr17:57529891-57529900 (-)	5,240 bp
Tssr148943	Chr17:57529871-57529886 (-)	5,257 bp
Tssr148942	Chr17:57529831-57529846 (-)	5,297 bp
Tssr148941	Chr17:57529330-57529346 (-)	5,798 bp
Tssr148940	Chr17:57529250-57529273 (-)	5,874 bp
Tssr148939	Chr17:57528915-57528929 (-)	6,214 bp
Tssr148938	Chr17:57528352-57528400 (-)	6,760 bp
Tssr148937	Chr17:57528081-57528094 (-)	7,048 bp
Tssr148936	Chr17:57528058-57528073 (-)	7,070 bp
Tssr148935	Chr17:57528041-57528052 (-)	7,089 bp
Tssr148934	Chr17:57527180-57527196 (-)	7,948 bp
Tssr148927	Chr17:57524147-57524170 (-)	10,977 bp
Tssr148926	Chr17:57522878-57522896 (-)	12,249 bp
Tssr148925	Chr17:57522147-57522178 (-)	12,973 bp
Tssr148924	Chr17:57521840-57521850 (-)	13,291 bp
Tssr148923	Chr17:57521785-57521830 (-)	13,328 bp
Tssr148922	Chr17:57520816-57520843 (-)	14,306 bp
Tssr148921	Chr17:57519716-57519735 (-)	15,410 bp
Tssr148920	Chr17:57519669-57519691 (-)	15,456 bp
Tssr148919	Chr17:57518712-57518725 (-)	16,417 bp
Tssr148918	Chr17:57518667-57518703 (-)	16,451 bp
Tssr148917	Chr17:57518637-57518656 (-)	16,489 bp
Tssr148916	Chr17:57517276-57517299 (-)	17,848 bp
Tssr148915	Chr17:57517218-57517253 (-)	17,900 bp
Tssr148914	Chr17:57517191-57517197 (-)	17,942 bp
Tssr148913	Chr17:57516615-57516653 (-)	18,502 bp
Tssr148912	Chr17:57516434-57516503 (-)	18,667 bp
Tssr148911	Chr17:57514567-57514616 (-)	20,544 bp
Tssr148910	Chr17:57514438-57514446 (-)	20,694 bp
Tssr148909	Chr17:57514363-57514374 (-)	20,767 bp
Tssr148908	Chr17:57513228-57513241 (-)	21,901 bp
Tssr148907	Chr17:57512529-57512535 (-)	22,604 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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