CEP63 - centrosomal protein 63 Gene

Homo sapiens

Also known as SCKL6

Gene ID: 80254 | Gene type: protein coding

About CEP63

Cytogenetic location: 3q22.2 Genomic coordinates (GRCh38): 3:134,485,724-134,782,559 (from NCBI)

This gene has 62 transcripts (splice variants), 186 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.9), fat (RPKM 3.4) and 25 other tissues.

Summary

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

CEP63 Products(20)

mRNA	Protein	Name
NM_001042383.2	NP_001035842.1	centrosomal protein of 63 kDa isoform c
NM_001042384.2	NP_001035843.1	centrosomal protein of 63 kDa isoform d
NM_001042400.3	NP_001035859.1	centrosomal protein of 63 kDa isoform b
NM_001353108.3	NP_001340037.1	centrosomal protein of 63 kDa isoform a
NM_001353109.1	NP_001340038.1	centrosomal protein of 63 kDa isoform e
NM_001353110.1	NP_001340039.1	centrosomal protein of 63 kDa isoform b
NM_001353111.2	NP_001340040.1	centrosomal protein of 63 kDa isoform b
NM_001353112.2	NP_001340041.1	centrosomal protein of 63 kDa isoform b
NM_001353113.1	NP_001340042.1	centrosomal protein of 63 kDa isoform f
NM_001353117.2	NP_001340046.1	centrosomal protein of 63 kDa isoform f
NM_001353118.1	NP_001340047.1	centrosomal protein of 63 kDa isoform g
NM_001353119.2	NP_001340048.1	centrosomal protein of 63 kDa isoform c
NM_001353120.2	NP_001340049.1	centrosomal protein of 63 kDa isoform c
NM_001353121.2	NP_001340050.1	centrosomal protein of 63 kDa isoform c
NM_001353122.1	NP_001340051.1	centrosomal protein of 63 kDa isoform c
NM_001353123.2	NP_001340052.1	centrosomal protein of 63 kDa isoform d
NM_001353124.2	NP_001340053.1	centrosomal protein of 63 kDa isoform d
NM_001353125.2	NP_001340054.1	centrosomal protein of 63 kDa isoform h
NM_001353126.2	NP_001340055.1	centrosomal protein of 63 kDa isoform i
NM_025180.5	NP_079456.2	centrosomal protein of 63 kDa isoform a

Protein Preferred Names

Protein Names

centrosomal protein of 63 kDa

centrosomal protein 63kDa

Related Diseases

Diseases

Alias

Seckel Syndrome 6

SCKL6

Seckel Syndrome, Type 6

Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7	MFM7
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome	Myopathy, Myofibrillar, Type 7

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Dyslexia

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Majewski Osteodysplastic Primordial Dwarfism Type Ii
MOPD2	Mopd Ii
Osteodysplastic Primordial Dwarfism Type Ii	Mopdii
Osteodysplastic Primordial Dwarfism Type 2	Osteodysplastic Primordial Dwarfism, Type Ii
Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism	Microcephalic Osteodysplastic Primordial Dwarfism Type 2
Mopd 2	Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities
Mopd Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism 2
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii

Microcephaly 5, Primary, Autosomal Recessive

MCPH5	Primary Autosomal Recessive Microcephaly 5
Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern	Microcephaly, Primary Autosomal Recessive, 5

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Brain Small Vessel Disease 2

Porencephaly 2	BSVD2
Gould Syndrome 2	Porencephaly 2, Formerly
Poren2, Formerly	Poren2

Reading Disorder

Specific Reading Disorder	Reading
Dyslexia	Developmental Reading Disorder

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome	Mva Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome	Warburton Anyane Yeboa Syndrome

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome	Ear, Patella, Short Stature Syndrome
Microtia, Absent Patellae, Micrognathia Syndrome	MGORS1
Eps	Ear-Patella-Short Stature Syndrome
Ear Patella Short Stature Syndrome	Microtia Absent Patellae Micrognathia Syndrome
Meier-Gorlin Syndrome, Type 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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-RS02519	CEP63 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CEP63	VGNC	VGNC:27209
Rattus norvegicus	CEP63	RGD	RGD:1561183
Felis catus	CEP63	VGNC	VGNC:60779
Macaca mulatta	CEP63	VGNC	VGNC:71104
Mus musculus	CEP63	MGD	MGI:2158560
Canis familiaris	CEP63	VGNC	VGNC:39133

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