CCDC78 - coiled-coil domain containing 78 Gene

Also Known as CNM4; JFP10; C16orf25; hsCCDC78

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 124093

About CCDC78

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:722,582-726,880 (from NCBI)

This gene has 18 transcripts (splice variants), 141 orthologues and is associated with 3 phenotypes. Broad expression in lung (RPKM 2.8), spleen (RPKM 1.3) and 22 other tissues.

Summary

The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

CCDC78 Products (4)

mRNA	Protein	Name
NM_001031737.3	NP_001026907.2	coiled-coil domain-containing protein 78 isoform 1
NM_001378030.1	NP_001364959.1	coiled-coil domain-containing protein 78 isoform 3
NM_001378031.1	NP_001364960.1	coiled-coil domain-containing protein 78 isoform 4
NM_001378033.1	NP_001364962.1	coiled-coil domain-containing protein 78 isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	IDA IDA: Inferred from direct assay	24075808	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	22818856	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centriole	IDA IDA: Inferred from direct assay	24075808	GOA
located in deuterosome	IDA IDA: Inferred from direct assay	24075808	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	22818856	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	22818856	GOA
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	22818856	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

CCDC78 Protein Structure

DUF4472

0
100
200
300
400
438 a.a.

Protein Preferred Names	Protein Names
coiled-coil domain-containing protein 78

関連疾患

Diseases	Alias
Myopathy, Centronuclear, 4	CNM4 Centronuclear Myopathy 4 Congenital Myopathy With Internal Nuclei And Atypical Cores Centronuclear Myopathy Type 4 Myopathy, Centronuclear, Type 4
Myopathy, Myofibrillar, 8	Myofibrillar Myopathy 8 MFM8 Myopathy, Myofibrillar, Type 8
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A10 Mddga10 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Tmem5-Related
Rhabdomyolysis-Myalgia Syndrome
Myopathy, Centronuclear, 5	CNM5 Centronuclear Myopathy 5 Myopathy, Centronuclear, Type 5
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Myopathy, Myofibrillar, 7	Myofibrillar Myopathy 7 MFM7 Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Myopathy, Myofibrillar, Type 7
Congenital Muscular Dystrophy-Dystroglycanopathy A14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14 Mddga14 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Joubert Syndrome 13	JBTS13 Joubert Syndrome, Type 13
Myopathy	Muscular Diseases Myopathies
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Myopathy, Congenital, Bailey-Bloch	Native American Myopathy Nam MYPBB Myopathy, Congenital, Baily-Bloch Anti-Hmg-Coa Myopathy Anti-Srp Myopathy Autoimmune Necrotizing Myositis Imnm Immune Myopathy With Myocyte Necrosis Immune-Mediated Necrotizing Myopathy Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia Necrotizing Autoimmune Myopathy Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Conorenal Syndrome Saldino-Mainzer Syndrome SRTD9 Mainzer-Saldino Syndrome Mzsds Mainzer-Saldino Disease Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy Mainzer Saldino Syndrome Conorenal Dysplasia Mainzer-Saldino Chondrodysplasia Saldino-Mainzer Dysplasia Short-Rib Thoracic Dysplasia 9 Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome Mss Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia
Cenani-Lenz Syndactyly Syndrome	Syndactyly Type 7 Cenani Syndactylism Cenani-Lenz Syndactyly CLSS Syndactyly Cenani Lenz Type Cenani-Lenz Syndrome Syndactyly, Type Vii Cenani-Lenz Type Syndactyly Cenani Syndactyly Syndactyly Type Vii
Heinz Body Anemias	Heinz Body Anemia Heinz Body Anemias, Alpha- HEIBAN Anemia, Heinz Body Acquired Heinz Body Anemia
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia

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)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02056	CCDC78 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	CCDC78	VGNC	VGNC:26916
Canis familiaris	CCDC78	VGNC	VGNC:38856
Rattus norvegicus	CCDC78	RGD	RGD:1560244
Mus musculus	CCDC78	MGD	MGI:2685784
Felis catus	CCDC78	VGNC	VGNC:107743
Macaca mulatta	CCDC78	VGNC	VGNC:70708
Others	CCDC78	NCBI