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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	220136
Gene name	Cilia and flagella associated protein 53
Gene symbol	CFAP53
Synonyms (NCBI Gene)	CCDC11HTX6
Chromosome	18
Chromosome location	18q21.1
Summary	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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dextrocardia	Likely pathogenic	rs1555672928	RCV000578206	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy	Pathogenic; Likely pathogenic	rs778118886, rs557771609	RCV001732148 RCV001732153	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy, visceral, 6, autosomal	Pathogenic; Likely pathogenic	rs375801610, rs1178515683, rs2144412496, rs897584290	RCV000190555 RCV003649061 RCV000030691 RCV003147972	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFAP53-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic left heart syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS	—	Disgenet Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bronchiectasis	Bronchiectasis	Pubtator	34556108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	34556108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	23035047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	BEFREE	26531781		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dextrocardia	Dextrocardia	CLINVAR_DG	26531781		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dextrocardia	Dextrocardia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	23035047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxia	BEFREE	28621423		★★★★★ ★☆☆☆☆ Found in Text Mining only
HETEROTAXY, VISCERAL, 6, AUTOSOMAL	Heterotaxy, Visceral	UNIPROT_DG	22577226, 26531781		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HETEROTAXY, VISCERAL, 6, AUTOSOMAL	Heterotaxy, Visceral	GENOMICS_ENGLAND_DG	25504577, 28621423		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HETEROTAXY, VISCERAL, 6, AUTOSOMAL	Heterotaxy, Visceral	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HETEROTAXY, VISCERAL, 6, AUTOSOMAL	Heterotaxy, Visceral	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL	Rigidity And Multifocal Seizure Syndrome	BEFREE	23035047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguous	Situs ambiguus	ORPHANET_DG	22577226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	ORPHANET_DG	22577226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	GENOMICS_ENGLAND_DG	25504577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	BEFREE	26531781		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	ORPHANET_DG	22577226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	BEFREE	25504577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	BEFREE	22577226, 25504577, 28621423		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CFAP53 (cilia and flagella associated protein 53)