CFAP57 - cilia and flagella associated protein 57 Gene

Homo sapiens

Also known as VWS2; WDR65

Gene ID: 149465 | Gene type: protein coding

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

Bioactive Molecules (1)

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

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