CCDC141 - coiled-coil domain containing 141 Gene

Homo sapiens

Also known as CAMDI

Gene ID: 285025 | Gene type: protein coding

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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02031	CCDC141 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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