CCDC47 - coiled-coil domain containing 47 Gene

Homo sapiens

Also known as THNS; GK001; MSTP041

Gene ID: 57003 | Gene type: protein coding

About CCDC47

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,745,255-63,773,597 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 44.7), duodenum (RPKM 34.8) and 25 other tissues.

Summary

Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and protein insertion into ER membrane. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

CCDC47 Products(1)

mRNA	Protein	Name
NM_020198.3	NP_064583.2	PAT complex subunit CCDC47 precursor

CCDC47 Protein Structure

DUF1682

0
100
200
300
400
483 a.a.

Protein Preferred Names

Protein Names

PAT complex subunit CCDC47

Calumin

Recombinant CCDC47 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76768	CCDC47 Protein, Human (HEK293, His)	Q96A33 (K21-S135)	≥95%

Related Diseases

Diseases

Alias

Trichohepatoneurodevelopmental Syndrome

THNS

Atypical Choroid Plexus Papilloma

Atypical Papilloma Of Choroid Plexus

Atypical Cpp

Choroid Plexus Cancer

Choroid Plexus Carcinoma	Choroid Plexus Neoplasms
Choroid Plexus Neoplasm	Tumor Of Choroid Plexus
Tumor Of The Choroid Plexus	Choroid Plexus Tumor
Choroid Plexus Tumors	Anaplastic Choroid Plexus Papilloma
Choroid Plexus Papilloma Nos	Papilloma Of Choroid Plexus
Plexus Choroideus Papilloma	Choroid Plexus Papilloma In Fourth Ventricle
Plexus Choroideus Papilloma In Fourth Ventricle

Cerebrovascular Benign Neoplasm

Papilloma Of Choroid Plexus

Choroid Plexus Papilloma	CPP
Childhood Choroid Plexus Papilloma	Papilloma Choroid Plexus
Papilloma, Choroid Plexus	Choroid Plexus Carcinoma

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

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-RS02047	CCDC47 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CCDC47	VGNC	VGNC:97373
Canis familiaris	CCDC47	VGNC	VGNC:51936
Rattus norvegicus	CCDC47	RGD	RGD:1308813
Bos taurus	CCDC47	VGNC	VGNC:97247
Mus musculus	CCDC47	MGD	MGI:1914413
Macaca mulatta	CCDC47	VGNC	VGNC:97745
Others	CCDC47	NCBI

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