CFAP57 - cilia and flagella associated protein 57 Gene

Also Known as VWS2; WDR65

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 149465

About CFAP57

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:43,172,330-43,254,358 (from NCBI)

This gene has 8 transcripts (splice variants) and 215 orthologues. Biased expression in testis (RPKM 8.0), lung (RPKM 1.3) and 2 other tissues.

Summary

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

CFAP57 Products (4)

mRNA	Protein	Name
NM_001167965.1	NP_001161437.1	cilia- and flagella-associated protein 57 isoform b
NM_001195831.3	NP_001182760.2	cilia- and flagella-associated protein 57 isoform a
NM_001378189.1	NP_001365118.1	cilia- and flagella-associated protein 57 isoform c
NM_152498.3	NP_689711.2	cilia- and flagella-associated protein 57 isoform b

CFAP57 Protein Structure

WD40

0
200
400
600
800
1000
1250 a.a.

Protein Preferred Names	Protein Names
cilia- and flagella-associated protein 57	WD repeat-containing protein 65

Related Diseases

Diseases	Alias
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Van Der Woude Syndrome 2	VWS2
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Cone-Rod Dystrophy 18	CORD18 Dystrophy, Cone-Rod, Type 18
Popliteal Pterygium Syndrome	PPS Faciogenitopopliteal Syndrome Facio-Genito-Popliteal Syndrome Popliteal Web Syndrome Autosomal Dominant Popliteal Pterygium Syndrome Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies Popliteal Pterygium Syndrome 1 Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies Popliteal Pterygium

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02555	CFAP57 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CFAP57	VGNC	VGNC:39166
Felis catus	CFAP57	VGNC	VGNC:60817
Mus musculus	CFAP57	MGD	MGI:2686209
Bos taurus	CFAP57	VGNC	VGNC:54907
Rattus norvegicus	CFAP57	RGD	RGD:1585948
Macaca mulatta	CFAP57	VGNC	VGNC:99866
Others	CFAP57	NCBI