1. Gene
  2. CCDC78 - coiled-coil domain containing 78 Gene

CCDC78 - coiled-coil domain containing 78 Gene

Homo sapiens

Also known as CNM4; JFP10; C16orf25; hsCCDC78

Gene ID: 124093 | Gene type: protein coding

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

CCDC78 Protein Structure

DUF4472

DUF4472: Domain of unknown function (DUF4472) (55 - 166)

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  • 438 a.a.
Protein Preferred Names Protein Names

coiled-coil domain-containing protein 78

Related Diseases

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

Orthologs Information

Species Symbol Source 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