CCDC141 - coiled-coil domain containing 141 Gene

Also Known as CAMDI

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285025

About CCDC141

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,814,978-179,050,137 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 4.9), lung (RPKM 0.5) and 4 other tissues.

Summary

Predicted to be involved in axon guidance and cell adhesion. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome; cytoplasm; and plasma membrane. Predicted to be active in neuron projection. [provided by Alliance of Genome Resources, Apr 2022]

CCDC141 Products (2)

mRNA	Protein	Name
NM_001316745.2	NP_001303674.1	coiled-coil domain-containing protein 141 isoform 2
NM_173648.4	NP_775919.3	coiled-coil domain-containing protein 141 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12812986	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC141 Protein Structure

Spectrin

I-set

0
300
600
900
1200
1530 a.a.

Protein Preferred Names	Protein Names
coiled-coil domain-containing protein 141	coiled-coil protein associated with myosin II and DISC1

CCDC141 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCDC141	Q6ZP82	DISC1	Homo sapiens	Q9NRI5	Y2H	12812986

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Idiopathic Hypogonadotropic Hypogonadism HH7 Hypogonadism, Isolated Hypogonadotropic Ihh Hypogonadism, Isolated, Hypogonadotropic Hypogonadotropic Hypogonadism Isolated Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism 7 Without Anosmia Congenital Hypogonadotropic Hypogonadism Normosmic Hh Klinefelter Syndrome Isolated Gonadotropin Deficiency
Third-Degree Atrioventricular Block	Third Degree Atrioventricular Block Complete Atrioventricular Block Complete Av Block Third-Degree Block Complete Atrioventricular Heart Block Complete Heart Block Third Degree Atrioventricular Heart Block Third Degree Heart Block Complete Heart Block Nos Chb - [Complete Heart Block] Idioventricular Rhythm Av - [Atrioventricular] Block, Complete
Waardenburg Syndrome, Type 4c	Waardenburg Syndrome Type 4c WS4C Waardenburg Syndrome Type Ivc Waardenburg Syndrome With Hirschsprung Disease Type 4c Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc Waardenburg Syndrome 4c Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a

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-RS02031	CCDC141 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CCDC141	VGNC	VGNC:26852
Rattus norvegicus	CCDC141	RGD	RGD:1593250
Mus musculus	CCDC141	MGD	MGI:1919735
Canis familiaris	CCDC141	VGNC	VGNC:38796
Felis catus	CCDC141	VGNC	VGNC:80159
Others	CCDC141	NCBI