Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	220136
Gene name Gene Name - the full gene name approved by the HGNC.	Cilia and flagella associated protein 53
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CFAP53
Synonyms (NCBI Gene) Gene synonyms aliases	CCDC11, HTX6
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs375801610	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886037751	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1555672928	TTGCTGGTCTAGCTTTTCAGCCACAAAATCCTGCCTCTCTTTTTCATTCTTCTCTTTTAGTAATTTAGTTTTCTCTCTCATCCTATCTTTTTTCTCCTCAATGGTTTCTTTCTTCAATTGCATTTCTGTAAAATACTCATTTTCTTCTAATGCTAAAAGCTCACGTAGCCTGAA>-	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, splice acceptor variant, coding sequence variant, intron variant

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	26538025
GO:0000922	Component	Spindle pole	IEA
GO:0002177	Component	Manchette	ISS
GO:0003341	Process	Cilium movement	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IDA	38538594
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	25504577
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	26531781
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0034451	Component	Centriolar satellite	IDA	26538025
GO:0034451	Component	Centriolar satellite	IEA
GO:0035869	Component	Ciliary transition zone	IDA	26538025
GO:0036126	Component	Sperm flagellum	ISS
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IMP	26538025
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA
GO:0120316	Process	Sperm flagellum assembly	ISS
GO:0160111	Component	Axonemal A tubule inner sheath	ISS
GO:1905198	Process	Manchette assembly	ISS

MIM	HGNC	e!Ensembl
614759	26530	ENSG00000172361

Protein

UniProt ID

Q96M91

Protein name

Cilia- and flagella-associated protein 53 (Coiled-coil domain-containing protein 11)

Protein function

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of both 9+0 and 9+2 motile cilia through differe

PDB

7UNG , 8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13868	TPH	157 → 497	Trichohyalin-plectin-homology domain	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in skin fibroblasts (at protein level) (PubMed:22577226, PubMed:28621423). Expressed in nasal respiratory epithelial cells (at protein level) (PubMed:25504577). Expressed in airway epithelial cells (PubMed:36191189). {ECO:000

Sequence

MYSQRFGTVQREVKGPTPKVVIVRSKPPKGQGAEHHLERIRRSHQKHNAILASIKSSERD
RLKAEWDQHNDCKILDSLVRARIKDAVQGFIINIEERRNKLRELLALEENEYFTEMQLKK
ETIEEKKDRMREKTKLLKEKNEKERQDFVAEKLDQQFRERCEELRVELLSIHQKKVCEER
KAQIAFNEELSRQKLVEEQMFSKLWEEDRLAKEKREAQEARRQKELMENTRLGLNAQITS
IKAQRQATQLLKEEEARLVESNNAQIKHENEQDMLKKQKAKQETRTILQKALQERIEHIQ
QEYRDEQDLNMKLVQRALQDLQEEADKKKQKREDMIREQKIYHKYLAQRREEEKAQEKEF
DRILEEDKAKKLAEKDKELRLEKEARRQLVDEVMCTRKLQVQEKLQREAKEQEERAMEQK
HINESLKELNCEEKENFARRQRLAQEYRKQLQMQIAYQQQSQEAEKEEKRREFEAGVAAN
KMCLDKVQEVLSTHQVLPQNIHPMRKACPSKLPP

Sequence length

514

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dextrocardia	dextrocardia	rs1555672928	N/A
Heterotaxy, Visceral	heterotaxy, visceral, 6, autosomal	rs2144412496, rs375801610	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypoplastic Left Heart Syndrome	hypoplastic left heart syndrome	N/A	N/A	ClinVar
Situs Inversus	situs inversus	N/A	N/A	GenCC

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bronchiectasis	Associate	34556108
Ciliary Motility Disorders	Associate	34556108
Heterotaxy Syndrome	Associate	23035047

CFAP53 (cilia and flagella associated protein 53)