Cfp MGI Mouse Gene Detail - MGI:97545 - complement factor properdin

Symbol

Cfp
Name

complement factor properdin
Synonyms

Pfc

Feature Type

protein coding gene
IDs

MGI:97545
NCBI Gene: 18636
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

ChrX:20791693-20797794 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 16.44 cM, cytoband A3
Mapping Data

12 experiments

SNPs within 2kb

18 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97545	protein coding gene	ChrX:20791693-20797794 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035600	protein coding gene	ChrX:15828673-15834774 (-)
A/J	MGP_AJ_G0035577	protein coding gene	ChrX:15908573-15914674 (-)
AKR/J	MGP_AKRJ_G0035510	protein coding gene	ChrX:16461467-16467568 (-)
BALB/cJ	MGP_BALBcJ_G0035570	protein coding gene	ChrX:15677469-15683570 (-)
C3H/HeJ	MGP_C3HHeJ_G0035288	protein coding gene	ChrX:16046007-16052108 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036106	protein coding gene	ChrX:16247805-16253906 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032970	protein coding gene	ChrX:14164465-14170589 (-)
CAST/EiJ	MGP_CASTEiJ_G0034579	protein coding gene	ChrX:15342936-15349049 (-)
CBA/J	MGP_CBAJ_G0035257	protein coding gene	ChrX:16986458-16992559 (-)
DBA/2J	MGP_DBA2J_G0035409	protein coding gene	ChrX:15711007-15717108 (-)
FVB/NJ	MGP_FVBNJ_G0035355	protein coding gene	ChrX:15618816-15624917 (-)
LP/J	MGP_LPJ_G0035491	protein coding gene	ChrX:16081661-16087762 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035399	protein coding gene	ChrX:17248468-17254569 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036113	protein coding gene	ChrX:15746116-15752217 (-)
PWK/PhJ	MGP_PWKPhJ_G0034280	protein coding gene	ChrX:14911021-14917107 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034120	protein coding gene	ChrX:15755156-15761258 (-)
WSB/EiJ	MGP_WSBEiJ_G0034714	protein coding gene	ChrX:15613185-15619282 (-)

Human Ortholog

CFP, complement factor properdin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFP, complement factor properdin
Synonyms

BFD, PFC, PFD, PROPERDIN
Links

HGNC:8864

NCBI Gene ID: 5199

neXtProt AC: NX_P27918

UniProt: P27918
Chr Location

Xp11.23; chrX:47624213-47630305 (-) GRCh38.p7

Alliance of Genome Resources

Cfp stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CFP
Gene Tree

Cfp

Diseases

1 with human CFP associations

				Human Disease	Mouse Models
				X-linked properdin deficiency IDs X-linked properdin deficiency DOID:0111768 MESH:C537241 OMIM:312060 ORDO:2966 UMLS_CUI:C0398762 UMLS_CUI:C1839454

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

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Phenotype Summary

9 phenotypes from 4 alleles in 6 genetic backgrounds
1 phenotype from multigenic genotypes
26 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Endonuclease-mediated

2
Gene trapped

4
Targeted

7
Incidental Mutations

APF
Find Mice (IMSR)

5 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations have defects in the alternative complement pathway.

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All GO Annotations

10
GO References

4

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded 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

697
Tissues

3
cDNA Data

47
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cfp

ZFIN cfp

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Cfp interacts with 27 markers (Mir16-2, Mir23a, Mir23b, ...) View All

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All Sequences

40
RefSeq

2
UniProt

2
CCDS

CCDS30047.1

Ensembl

ENSMUSG00000001128 (Evidence)
NCBI Gene

18636

			Length	Strain/Species	Flank
genomic	18636	NCBI Gene Model \| MGI Sequence Detail	6102	C57BL/6J	± kb
transcript	NM_008823	RefSeq \| MGI Sequence Detail	1636	Not Specified
polypeptide	P11680	UniProt \| EBI \| MGI Sequence Detail	464	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005387 properdin

(term hierarchy)
InterPro Domains

IPR000884 Thrombospondin type-1 (TSP1) repeat

IPR036383 Thrombospondin type-1 (TSP1) repeat superfamily

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All nucleic 48

cDNA 47

Primer pair 1

Microarray probesets 3

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MGD-MRK-13243

Summaries

All 62

Developmental Gene Expression 2

Gene Ontology 4

Phenotypes 26
Earliest

J:7192 Farrar JJ, et al., Biochemical and physicochemical characterization of mouse B cell growth factor: a lymphokine distinct from interleukin 2. J Immunol. 1983 Oct;131(4):1838-42
Latest

J:311130 Wu Y, et al., Properdin Deficiency Impairs Phagocytosis and Enhances Injury at Kidney Repair Phase Post Ischemia-Reperfusion. Front Immunol. 2021;12:697760

TSS for Cfp:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr163103	ChrX:20797759-20797773 (-)	28 bp
Tssr163102	ChrX:20797734-20797756 (-)	49 bp
Tssr163101	ChrX:20797702-20797720 (-)	83 bp
Tssr163100	ChrX:20797478-20797494 (-)	308 bp
Tssr163099	ChrX:20796094-20796109 (-)	1,692 bp
Tssr163098	ChrX:20796041-20796068 (-)	1,739 bp
Tssr163097	ChrX:20795941-20795955 (-)	1,846 bp
Tssr163096	ChrX:20795906-20795935 (-)	1,873 bp
Tssr163095	ChrX:20795011-20795022 (-)	2,777 bp
Tssr163094	ChrX:20794743-20794754 (-)	3,045 bp
Tssr163093	ChrX:20794621-20794633 (-)	3,167 bp
Tssr163092	ChrX:20794337-20794356 (-)	3,447 bp
Tssr163091	ChrX:20794296-20794314 (-)	3,489 bp
Tssr163090	ChrX:20793924-20793945 (-)	3,859 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 & Copyright Notice Send questions and comments to User Support.	last database update 08/09/2022 MGI 6.21