Cfap221 MGI Mouse Gene Detail - MGI:2684947 - cilia and flagella associated protein 221

Symbol

Cfap221
Name

cilia and flagella associated protein 221
Synonyms

Gm101, Pcdp1

Feature Type

protein coding gene
IDs

MGI:2684947
NCBI Gene: 226356
Alliance

genome feature page
Transcription Start Sites

3 TSS

Sequence Map

Chr1:119851071-119924964 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 52.54 cM, cytoband E2.3
Mapping Data

2 experiments

SNPs within 2kb

1857 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2684947	protein coding gene	Chr1:119851070-119934624 (-)
129S1/SvImJ	ENSMUSG00200001703	protein coding gene	Chr1:117327655-117401591 (-)
A/J	ENSMUSG00195004225	protein coding gene	Chr1:116568444-116642391 (-)
AKR/J	ENSMUSG00220024773	protein coding gene	Chr1:116384171-116458123 (-)
BALB/cJ	ENSMUSG00180012195	protein coding gene	Chr1:116978089-117052015 (-)
C3H/HeJ	ENSMUSG00175019101	protein coding gene	Chr1:116799294-116873221 (-)
C57BL/6NJ	ENSMUSG00215010579	protein coding gene	Chr1:116758242-116832149 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014517	protein coding gene	Chr1:111951032-112025557 (-)
CAST/EiJ	ENSTCUG00005006426	protein coding gene	Chr1:115732633-115806252 (-)
CBA/J	ENSMUSG00210001054	protein coding gene	Chr1:116628933-116702882 (-)
DBA/2J	ENSMUSG00185013369	protein coding gene	Chr1:121077264-121151213 (-)
FVB/NJ	ENSMUSG00205012071	protein coding gene	Chr1:116131313-116205260 (-)
JF1/MsJ	ENSUMUG00000025832	protein coding gene	Chr1:120170005-120244045 (-)
LP/J	ENSMUSG00230008884	protein coding gene	Chr1:120505460-120579390 (-)
NOD/ShiLtJ	ENSMUSG00190006368	protein coding gene	Chr1:116614145-116688065 (-)
NZO/HlLtJ	ENSMUSG00225004148	protein coding gene	Chr1:124299850-124373840 (-)
PWK/PhJ	ENSLUMG00010014019	protein coding gene	Chr1:115755627-115829951 (-)
SPRET/EiJ	ENSMSPG00010016255	protein coding gene	Chr1:118388592-118461000 (-)
WSB/EiJ	ENSIUOG00005002987	protein coding gene	Chr1:116480725-116554793 (-)

Human Ortholog

CFAP221, cilia and flagella associated protein 221

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFAP221, cilia and flagella associated protein 221
Synonyms

CILD55, FAP221, PCDP1
Links

HGNC:33720

NCBI Gene ID: 200373

UniProt: Q4G0U5
Chr Location

2q14.2; chr2:119544432-119662251 (+) GRCh38

MGI Vertebrate Homology

Cfap221 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CFAP221
Gene Tree

Cfap221

Diseases

1 with human CFAP221 associations

				Human Disease	Mouse Models
				primary ciliary dyskinesia 55 IDs primary ciliary dyskinesia 55 DOID:0061226 OMIM:279000 ORDO:3471

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

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Phenotype Summary

7 phenotype references

All Mutations and Alleles

5
Chemically induced (other)

2
Endonuclease-mediated

2
Radiation induced

1
Genomic Mutations

3 involving Cfap221
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

53 strains or lines available

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All GO Annotations

41
GO References

13

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

597
cDNA Data

6

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cfap221

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All Sequences

40
RefSeq

9
UniProt

2
CCDS

CCDS48340.1

Ensembl

ENSMUSG00000036962 (Evidence)
NCBI Gene

226356

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036962	Ensembl Gene Model \| MGI Sequence Detail	73894	C57BL/6J	± kb
transcript	ENSMUST00000174370	Ensembl \| MGI Sequence Detail	2871	Not Applicable
polypeptide	ENSMUSP00000134576	Ensembl \| MGI Sequence Detail	836	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000034749 cilia- and flagella-associated protein 221

(term hierarchy)
PDB

9IJJ
InterPro Domains

IPR029676 Cilia- and flagella-associated protein 221

IPR059041 Deleted in lung and esophageal cancer protein 1, Ig-like domain

IPR053879 HYDIN/VesB/CFA65-like, Ig-like domain

IPR013783 Immunoglobulin-like fold

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All nucleic 6

cDNA 6

Microarray probesets 2

Summaries

All 38

Gene Ontology 13

Phenotypes 7
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:294202 McKenzie CW, et al., Genetic interaction between central pair apparatus genes CFAP221, CFAP54, and SPEF2 in mouse models of primary ciliary dyskinesia. Sci Rep. 2020 Jul 23;10(1):12337

TSS for Cfap221:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr13231	Chr1:119924941-119924979 (-)	4 bp
Tssr13230	Chr1:119924891-119924900 (-)	68 bp
Tssr13229	Chr1:119864030-119864068 (-)	60,915 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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