SCA14
MCID: SPN312
MIFTS: 51

Spinocerebellar Ataxia 14 (SCA14)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 14

MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 57 53 74 29 13 6 72
Sca14 57 24 53 59 74 55
Spinocerebellar Ataxia Type 14 12 24 53 59 15
Ataxia, Spinocerebellar, Type 14 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Miscellaneous:
slow progression
incomplete penetrance
mean age of onset 31 years (range 5-60)

Inheritance:
autosomal dominant


HPO:

32
spinocerebellar ataxia 14:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance


GeneReviews:

24
Penetrance Too few families have been studied to specify the penetrance or to determine if decreased penetrance is related to specific pathogenic variants. however, clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least two families [yabe et al 2003, chen et al 2005]. in general, penetrance is high when late-onset cases are included [klebe et al 2005].

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050964
MeSH 44 D020754
MESH via Orphanet 45 C537196
ICD10 via Orphanet 34 G11.2
UMLS via Orphanet 73 C1854369
Orphanet 59 ORPHA98763
MedGen 42 C1854369
UMLS 72 C1854369

Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98763DefinitionSpinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.EpidemiologyThe disease has been reported in more than twenty families from Europe, the United States, and Australia.Clinical descriptionOnset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia, axial myoclonus, facial myokymia, choreic movement of hands and epilepsy.EtiologySCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma).PrognosisPrognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 14, also known as sca14, is related to cerebellar disease and aceruloplasminemia, and has symptoms including gait ataxia and memory loss. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Allograft rejection. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait ataxia and generalized hypotonia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has material basis in mutation in the PRKCG gene.

UniProtKB/Swiss-Prot : 74 Spinocerebellar ataxia 14: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

More information from OMIM: 605361 PS164400
GeneReviews: NBK1399

Related Diseases for Spinocerebellar Ataxia 14

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 cerebellar disease 30.3 PRKCG ITPR1 APTX
2 aceruloplasminemia 30.2 PRKCG ITPR1 APTX
3 spinocerebellar ataxia, autosomal recessive 14 11.4
4 dystonia 11, myoclonic 11.3
5 ataxia and polyneuropathy, adult-onset 10.4
6 autosomal dominant cerebellar ataxia 10.4
7 dystonia 10.3
8 spinocerebellar ataxia 10 10.1
9 focal dystonia 10.1
10 cervical dystonia 10.1
11 hereditary ataxia 10.1
12 retinal degeneration 10.1
13 myoclonus 10.1
14 tremor 10.1
15 alzheimer disease 10.1
16 multiple system atrophy 1 10.1
17 kearns-sayre syndrome 10.1
18 dystonia, focal, task-specific 10.1
19 movement disease 10.1
20 peripheral nervous system disease 10.1
21 paraplegia 10.1
22 prion disease 10.1
23 neuropathy 10.1
24 sgce myoclonus-dystonia 10.1
25 dysphagia 10.1
26 spasticity 10.1
27 huntington disease 10.0
28 pathologic nystagmus 10.0
29 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.0 ITPR1 APTX
30 hypomyelinating leukoencephalopathy 9.5 HSPA4 GJA1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:



Diseases related to Spinocerebellar Ataxia 14

Symptoms & Phenotypes for Spinocerebellar Ataxia 14

Human phenotypes related to Spinocerebellar Ataxia 14:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
2 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
3 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
4 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
5 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
6 abnormality of the achilles tendon 59 32 frequent (33%) Frequent (79-30%) HP:0005109
7 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
8 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
9 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
10 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
11 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
12 saccadic smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0001152
13 sensory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0003474
14 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
15 hyporeflexia of lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002600
16 nystagmus 32 HP:0000639
17 depressivity 32 HP:0000716
18 hyperreflexia 32 HP:0001347
19 dysphagia 32 HP:0002015
20 memory impairment 32 HP:0002354
21 attention deficit hyperactivity disorder 32 HP:0007018
22 dysmetria 32 HP:0001310
23 mental deterioration 32 HP:0001268
24 cerebellar atrophy 32 HP:0001272
25 focal dystonia 32 HP:0004373
26 facial myokymia 32 HP:0000317
27 impaired vibration sensation at ankles 32 HP:0006938

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic intrusions

Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
decreased vibration sense at ankles

Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysphagia
gait ataxia
dysmetria
more
Neurologic Behavioral Psychiatric Manifestations:
memory loss
depression
cognitive decline
attention deficits

Clinical features from OMIM:

605361

UMLS symptoms related to Spinocerebellar Ataxia 14:


gait ataxia, memory loss

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ATG5 CASP3 CKAP5 DDIT3 EIF2AK3 GJA1
2 cellular MP:0005384 10.11 APTX ATG5 CASP3 DDIT3 EIF2AK3 GJA1
3 growth/size/body region MP:0005378 10 ATG5 CASP3 CKAP5 DDIT3 EIF2AK3 GJA1
4 endocrine/exocrine gland MP:0005379 9.92 ATG5 CASP3 DDIT3 EIF2AK3 GJA1 HSP90AA1
5 immune system MP:0005387 9.81 ATG5 CASP3 DDIT3 EIF2AK3 GJA1 HSP90AA1
6 mortality/aging MP:0010768 9.7 ATG5 CASP3 CKAP5 EIF2AK3 GJA1 HSP90AA1
7 nervous system MP:0003631 9.44 ATG5 CASP3 CKAP5 DDIT3 EIF2AK3 GJA1

Drugs & Therapeutics for Spinocerebellar Ataxia 14

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 14

Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 14 29 PRKCG

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

41
Eye, Cerebellum, Spinal Cord, Cortex

Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. 9 38 4 8 71
19561170 2009
2
A Japanese case of SCA14 with the Gly128Asp mutation. 9 38 4 8 71
17024314 2006
3
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. 9 38 4 8 71
15841389 2005
4
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. 9 38 4 8 71
15313841 2004
5
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. 9 38 4 8 71
14676051 2003
6
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. 38 4 8 71
14694043 2003
7
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. 38 4 8 71
12164726 2002
8
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 4 8 71
12644968 2003
9
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. 9 38 4 8
16193476 2005
10
The clinical and genetic spectrum of spinocerebellar ataxia 14. 9 38 4 71
15824357 2005
11
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. 9 38 4 71
15618281 2005
12
A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. 38 4 8
10939565 2000
13
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. 9 38 71
16189624 2005
14
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. 38 8
22675081 2012
15
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. 9 38 4
18986758 2009
16
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. 9 38 4
18577575 2008
17
Protection from ataxia-linked apoptosis by gap junction inhibitors. 9 38 4
17822669 2007
18
Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. 9 38 4
17708558 2007
19
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. 9 38 4
16763984 2006
20
Spinocerebellar Ataxia Type 14 38 71
20301573 2005
21
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. 38 4
21434874 2012
22
Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo. 38 4
21976518 2011
23
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 71
21937992 2011
24
Elucidation of the molecular mechanism and exploration of novel therapeutics for spinocerebellar ataxia caused by mutant protein kinase Cγ. 38 4
21666345 2011
25
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. 38 4
19913450 2010
26
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. 38 4
20398063 2010
27
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 71
20050888 2010
28
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. 38 4
19041943 2009
29
Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse. 38 4
19056342 2009
30
Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. 38 4
18503760 2008
31
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. 38 4
18499672 2008
32
Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. 38 4
18005063 2007
33
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. 8
17562946 2007
34
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. 38 4
17805477 2007
35
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. 38 4
17149711 2007
36
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. 38 4
16649092 2006
37
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. 38 4
16547918 2006
38
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. 38 4
15964845 2005
39
Hereditary Ataxia Overview 71
20301317 1998
40
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 4
18976727 2008
41
Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions. 4
17493614 2007
42
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. 4
17343273 2007
43
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. 9 38
16828200 2006
44
The different facets of protein kinases C: old and new players in neuronal signal transduction pathways. 4
16996748 2006
45
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. 4
16291902 2005
46
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. 9 38
15148151 2004
47
Peripheral nerve involvement in spinocerebellar ataxias. 4
14967775 2004
48
Altered dendritic development of cerebellar Purkinje cells in slice cultures from protein kinase Cgamma-deficient mice. 4
11934475 2002
49
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. 4
11586300 2001
50
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 4
11545739 2001

Variations for Spinocerebellar Ataxia 14

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

6 (show all 38)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRKCG NM_002739.5(PRKCG): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs121918511 19:54392907-54392907 19:53889653-53889653
2 PRKCG NM_002739.5(PRKCG): c.355T> C (p.Ser119Pro) single nucleotide variant Pathogenic rs121918512 19:54392961-54392961 19:53889707-53889707
3 PRKCG NM_002739.5(PRKCG): c.383G> A (p.Gly128Asp) single nucleotide variant Pathogenic rs121918513 19:54392989-54392989 19:53889735-53889735
4 PRKCG NM_002739.5(PRKCG): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic rs121918514 19:54392959-54392959 19:53889705-53889705
5 PRKCG NM_002739.5(PRKCG): c.380A> G (p.Gln127Arg) single nucleotide variant Pathogenic rs121918515 19:54392986-54392986 19:53889732-53889732
6 PRKCG NM_002739.5(PRKCG): c.1927T> C (p.Phe643Leu) single nucleotide variant Pathogenic rs121918516 19:54409982-54409982 19:53906728-53906728
7 PRKCG NM_002739.5(PRKCG): c.1081A> G (p.Ser361Gly) single nucleotide variant Pathogenic rs121918517 19:54401354-54401354 19:53898100-53898100
8 PRKCG NM_002739.5(PRKCG): c.303C> G (p.His101Gln) single nucleotide variant Pathogenic rs121918518 19:54392909-54392909 19:53889655-53889655
9 PRKCG NM_002739.5(PRKCG): c.2091_*98del (p.Met697_Ter698delinsXaa) deletion Pathogenic rs1555808841 19:54410146-54410247 19:53906892-53906993
10 PRKCG NM_002739.3(PRKCG): c.530_919del deletion Pathogenic
11 PRKCG NM_002739.5(PRKCG): c.1438G> T (p.Asp480Tyr) single nucleotide variant Pathogenic rs387906679 19:54403866-54403866 19:53900612-53900612
12 PRKCG NM_002739.5(PRKCG): c.300_305del (p.His101_Lys102del) deletion Pathogenic rs386134161 19:54392902-54392907 19:53889648-53889653
13 PRKCG NM_002739.5(PRKCG): c.341G> A (p.Cys114Tyr) single nucleotide variant Pathogenic rs386134162 19:54392947-54392947 19:53889693-53889693
14 PRKCG NM_002739.5(PRKCG): c.229T> A (p.Cys77Ser) single nucleotide variant Pathogenic rs386134160 19:54387441-54387441 19:53884187-53884187
15 PRKCG NM_002739.5(PRKCG): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs386134166 19:54392997-54392997 19:53889743-53889743
16 PRKCG NM_002739.5(PRKCG): c.392G> A (p.Cys131Tyr) single nucleotide variant Pathogenic rs386134167 19:54392998-54392998 19:53889744-53889744
17 PRKCG NM_002739.5(PRKCG): c.413T> A (p.Val138Glu) single nucleotide variant Pathogenic rs386134168 19:54393155-54393155 19:53889901-53889901
18 PRKCG NM_002739.5(PRKCG): c.449_450delinsTT (p.Cys150Phe) indel Pathogenic rs386134170 19:54393191-54393192 19:53889937-53889938
19 PRKCG NM_002739.5(PRKCG): c.417C> A (p.His139Gln) single nucleotide variant Pathogenic rs386134169 19:54393159-54393159 19:53889905-53889905
20 PRKCG NM_002739.5(PRKCG): c.76A> G (p.Arg26Gly) single nucleotide variant Pathogenic rs386134157 19:54385824-54385824 19:53882570-53882570
21 PRKCG NM_002739.5(PRKCG): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs386134164 19:54392973-54392973 19:53889719-53889719
22 PRKCG NM_002739.5(PRKCG): c.368G> A (p.Gly123Glu) single nucleotide variant Pathogenic rs386134165 19:54392974-54392974 19:53889720-53889720
23 PRKCG NM_002739.5(PRKCG): c.188G> T (p.Gly63Val) single nucleotide variant Pathogenic rs386134159 19:54386434-54386434 19:53883180-53883180
24 PRKCG NM_002739.5(PRKCG): c.1078G> A (p.Gly360Ser) single nucleotide variant Pathogenic rs386134171 19:54401351-54401351 19:53898097-53898097
25 PRKCG NM_002739.5(PRKCG): c.122G> C (p.Arg41Pro) single nucleotide variant Pathogenic rs386134158 19:54385870-54385870 19:53882616-53882616
26 PRKCG NM_002739.5(PRKCG): c.197G> A (p.Cys66Tyr) single nucleotide variant Likely pathogenic rs1555806333 19:54386443-54386443 19:53883189-53883189
27 PRKCG NM_002739.5(PRKCG): c.154T> A (p.Cys52Ser) single nucleotide variant Likely pathogenic rs797045900 19:54385902-54385902 19:53882648-53882648
28 PRKCG NM_002739.5(PRKCG): c.1883C> T (p.Pro628Leu) single nucleotide variant Likely pathogenic 19:54409689-54409689 19:53906435-53906435
29 PRKCG NM_002739.5(PRKCG): c.356C> T (p.Ser119Phe) single nucleotide variant Likely pathogenic rs386134163 19:54392962-54392962 19:53889708-53889708
30 PRKCG NM_002739.5(PRKCG): c.2075T> G (p.Val692Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs78437096 19:54410130-54410130 19:53906876-53906876
31 PRKCG NM_002739.5(PRKCG): c.715C> T (p.Arg239Trp) single nucleotide variant Uncertain significance rs1471641294 19:54395791-54395791 19:53892537-53892537
32 PRKCG NM_002739.5(PRKCG): c.1747G> A (p.Val583Met) single nucleotide variant Uncertain significance rs143513754 19:54407979-54407979 19:53904725-53904725
33 PRKCG NM_002739.5(PRKCG): c.285C> T (p.Asp95=) single nucleotide variant Benign/Likely benign rs17854523 19:54387497-54387497 19:53884243-53884243
34 PRKCG NM_002739.5(PRKCG): c.1404C> G (p.Leu468=) single nucleotide variant Benign/Likely benign rs35079513 19:54403703-54403703 19:53900449-53900449
35 PRKCG NM_002739.5(PRKCG): c.207C> T (p.Cys69=) single nucleotide variant Benign/Likely benign rs307955 19:54387419-54387419 19:53884165-53884165
36 PRKCG NM_002739.5(PRKCG): c.686+14G> T single nucleotide variant Benign rs3745405 19:54395098-54395098 19:53891844-53891844
37 PRKCG NM_002739.5(PRKCG): c.567T> C (p.Asn189=) single nucleotide variant Benign rs3745406 19:54394965-54394965 19:53891711-53891711
38 PRKCG NM_002739.5(PRKCG): c.72C> T (p.Ala24=) single nucleotide variant Benign rs2547362 19:54385820-54385820 19:53882566-53882566

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

74
# Symbol AA change Variation ID SNP ID
1 PRKCG p.His101Tyr VAR_017060 rs121918511
2 PRKCG p.Ser119Pro VAR_017061 rs121918512
3 PRKCG p.Gly128Asp VAR_017062 rs121918513
4 PRKCG p.Gly63Arg VAR_080740
5 PRKCG p.Gly63Val VAR_080741 rs386134159

Expression for Spinocerebellar Ataxia 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.

Pathways for Spinocerebellar Ataxia 14

Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 PRKCG ITPR1 HSPA4 HSP90AA1 EIF2AK3 CASP3
2
Show member pathways
12.62 ITPR1 HSPA5 HSPA4 HSP90AA1 CASP3
3
Show member pathways
12.5 ITPR1 HSP90AA1 EIF2AK3 DDIT3 CASP3
4
Show member pathways
12.29 PRKCG ITPR1 GJA8 GJA1
5 11.86 ITPR1 EIF2AK3 ATG5
6 11.82 PRKCG MARCKS ITPR1
7 11.75 PRKCG ITPR1 CASP3
8 11.67 HSPA5 HSP90AA1 EIF2AK3 DDIT3
9 11.6 HSP90AA1 GJA1 CASP3
10 11.55 PRKCG ITPR1 GJA1
11
Show member pathways
11.27 HSPA5 HSPA4 HSP90AA1
12
Show member pathways
11.19 HSPA5 EIF2AK3 DDIT3
13 10.74 HSPA5 HSPA4 HSP90AA1
14 10.37 HSPA4 HSP90AA1
15 10.26 HSPA5 EIF2AK3 DDIT3

GO Terms for Spinocerebellar Ataxia 14

Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 TRPC3 SLC17A6 SGCE PRKCG MARCKS ITPR1
2 protein-containing complex GO:0032991 9.55 ITPR1 HSPA5 HSP90AA1 GJA1 CKAP5
3 cytoplasm GO:0005737 9.5 SGCE PRKCG MARCKS ITPR1 HSPA5 HSPA4
4 connexin complex GO:0005922 9.26 GJA8 GJA1

Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.92 ITPR1 GJA1 DDIT3 CASP3 ATG5
2 transmembrane transport GO:0055085 9.88 TRPC3 SLC17A6 ITPR1 GJA8 GJA1
3 platelet activation GO:0030168 9.67 TRPC3 PRKCG ITPR1
4 response to endoplasmic reticulum stress GO:0034976 9.61 HSPA5 EIF2AK3 DDIT3
5 protein refolding GO:0042026 9.54 HSPA5 HSP90AA1
6 endoplasmic reticulum unfolded protein response GO:0030968 9.54 HSPA5 EIF2AK3 DDIT3
7 chaperone-mediated protein complex assembly GO:0051131 9.51 HSPA4 HSP90AA1
8 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.46 HSPA5 DDIT3
9 ATF6-mediated unfolded protein response GO:0036500 9.4 HSPA5 DDIT3
10 PERK-mediated unfolded protein response GO:0036499 9.33 HSPA5 EIF2AK3 DDIT3
11 protein import into mitochondrial outer membrane GO:0045040 9.32 HSPA4 HSP90AA1
12 luteolysis GO:0001554 9.26 HSPA5 CASP3
13 ER overload response GO:0006983 9.13 HSPA5 EIF2AK3 DDIT3
14 response to unfolded protein GO:0006986 9.02 HSPA5 HSPA4 HSP90AA1 EIF2AK3 DDIT3

Molecular functions related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase binding GO:1990782 9.26 HSP90AA1 GJA1
2 ATPase activity, coupled GO:0042623 9.16 HSPA5 HSP90AA1
3 gap junction channel activity GO:0005243 8.96 GJA8 GJA1
4 inositol 1,4,5 trisphosphate binding GO:0070679 8.62 TRPC3 ITPR1

Sources for Spinocerebellar Ataxia 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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