SCA14
MCID: SPN312
MIFTS: 48

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 58 54 76 30 13 6 74
Sca14 58 25 54 60 76 56
Spinocerebellar Ataxia Type 14 12 25 54 60 15
Ataxia, Spinocerebellar, Type 14 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spinocerebellar ataxia 14:
Onset and clinical course incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

25
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: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98763Disease definitionSpinocerebellar 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 aceruloplasminemia and spinocerebellar ataxia, autosomal recessive 14, 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 MAPK signaling pathway and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are gait ataxia and limb ataxia

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 : 76 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).

Description from OMIM: 605361
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 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 30.7 APTX ITPR1 PRKCG
2 spinocerebellar ataxia, autosomal recessive 14 11.3
3 dystonia 11, myoclonic 11.1
4 autosomal dominant cerebellar ataxia 10.4
5 ataxia and polyneuropathy, adult-onset 10.3
6 dystonia 10.2
7 depression 10.1
8 myoclonus 10.1
9 tremor 10.1
10 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.1 APTX ITPR1
11 cerebellar disease 10.1 APTX ITPR1 PRKCG
12 hypomyelinating leukoencephalopathy 9.7 GJA1 HSPA4
13 ischemia 9.3 CASP3 GJA1 HSPA4

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:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
2 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
3 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
4 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
5 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
6 abnormality of the achilles tendon 60 33 frequent (33%) Frequent (79-30%) HP:0005109
7 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
8 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
9 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
10 myoclonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001336
11 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
12 saccadic smooth pursuit 60 33 occasional (7.5%) Occasional (29-5%) HP:0001152
13 sensory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0003474
14 gaze-evoked nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000640
15 hyporeflexia of lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002600
16 nystagmus 33 HP:0000639
17 depressivity 33 HP:0000716
18 hyperreflexia 33 HP:0001347
19 dysphagia 33 HP:0002015
20 attention deficit hyperactivity disorder 33 HP:0007018
21 dysmetria 33 HP:0001310
22 memory impairment 33 HP:0002354
23 mental deterioration 33 HP:0001268
24 cerebellar atrophy 33 HP:0001272
25 focal dystonia 33 HP:0004373
26 facial myokymia 33 HP:0000317
27 impaired vibration sensation at ankles 33 HP:0006938

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 ATG5 CASP3 DDIT3 GJA1 HSPA4 ITPR1
2 cellular MP:0005384 9.61 APTX ATG5 CASP3 DDIT3 GJA1 HSPA4
3 nervous system MP:0003631 9.36 ATG5 CASP3 DDIT3 GJA1 HSPA4 HSPA5

Drugs & Therapeutics for Spinocerebellar Ataxia 14

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 30 PRKCG

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

42
Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

(show all 32)
# Title Authors Year
1
Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. ( 30249303 )
2018
2
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )
2017
3
Writer's Cramp as the First Symptom of Spinocerebellar Ataxia 14. ( 30363848 )
2015
4
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein. ( 25217572 )
2015
5
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ( 24937631 )
2014
6
SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization. ( 24134140 )
2014
7
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia. ( 23853068 )
2013
8
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. ( 24289098 )
2013
9
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. ( 21434874 )
2012
10
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. ( 22675081 )
2012
11
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
12
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. ( 20398063 )
2010
13
Congo red, an amyloid-inhibiting compound, alleviates various types of cellular dysfunction triggered by mutant protein kinase cγ that causes spinocerebellar ataxia type 14 (SCA14) by inhibiting oligomerization and aggregation. ( 20938103 )
2010
14
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
15
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. ( 18986758 )
2009
16
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. ( 19561170 )
2009
17
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ( 17149711 )
2007
18
Codon 101 of PRKCG, a preferential mutation site in SCA14. ( 17659643 )
2007
19
Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. ( 17708558 )
2007
20
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. ( 16547918 )
2006
21
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. ( 16649092 )
2006
22
A Japanese case of SCA14 with the Gly128Asp mutation. ( 17024314 )
2006
23
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ( 15618281 )
2005
24
The clinical and genetic spectrum of spinocerebellar ataxia 14. ( 15824357 )
2005
25
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. ( 15841389 )
2005
26
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. ( 16189624 )
2005
27
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. ( 15313841 )
2004
28
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ( 14694043 )
2003
29
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. ( 12644968 )
2003
30
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. ( 14676051 )
2003
31
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. ( 12164726 )
2002
32
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. ( 10939565 )
2000

Variations for Spinocerebellar Ataxia 14

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

76
# 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

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKCG NM_002739.4(PRKCG): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs121918511 GRCh37 Chromosome 19, 54392907: 54392907
2 PRKCG NM_002739.4(PRKCG): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs121918511 GRCh38 Chromosome 19, 53889653: 53889653
3 PRKCG NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro) single nucleotide variant Pathogenic rs121918512 GRCh37 Chromosome 19, 54392961: 54392961
4 PRKCG NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro) single nucleotide variant Pathogenic rs121918512 GRCh38 Chromosome 19, 53889707: 53889707
5 PRKCG NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp) single nucleotide variant Pathogenic rs121918513 GRCh37 Chromosome 19, 54392989: 54392989
6 PRKCG NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp) single nucleotide variant Pathogenic rs121918513 GRCh38 Chromosome 19, 53889735: 53889735
7 PRKCG NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic rs121918514 GRCh37 Chromosome 19, 54392959: 54392959
8 PRKCG NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic rs121918514 GRCh38 Chromosome 19, 53889705: 53889705
9 PRKCG NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg) single nucleotide variant Pathogenic rs121918515 GRCh37 Chromosome 19, 54392986: 54392986
10 PRKCG NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg) single nucleotide variant Pathogenic rs121918515 GRCh38 Chromosome 19, 53889732: 53889732
11 PRKCG NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu) single nucleotide variant Pathogenic rs121918516 GRCh37 Chromosome 19, 54409982: 54409982
12 PRKCG NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu) single nucleotide variant Pathogenic rs121918516 GRCh38 Chromosome 19, 53906728: 53906728
13 PRKCG NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly) single nucleotide variant Pathogenic rs121918517 GRCh37 Chromosome 19, 54401354: 54401354
14 PRKCG NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly) single nucleotide variant Pathogenic rs121918517 GRCh38 Chromosome 19, 53898100: 53898100
15 PRKCG NM_002739.4(PRKCG): c.303C> G (p.His101Gln) single nucleotide variant Pathogenic rs121918518 GRCh37 Chromosome 19, 54392909: 54392909
16 PRKCG NM_002739.4(PRKCG): c.303C> G (p.His101Gln) single nucleotide variant Pathogenic rs121918518 GRCh38 Chromosome 19, 53889655: 53889655
17 PRKCG NM_002739.3(PRKCG): c.2091_*98del102 deletion Pathogenic rs1555808841 GRCh37 Chromosome 19, 54410146: 54410247
18 PRKCG NM_002739.3(PRKCG): c.2091_*98del102 deletion Pathogenic rs1555808841 GRCh38 Chromosome 19, 53906892: 53906993
19 PRKCG NM_002739.3(PRKCG): c.530_919del deletion Pathogenic
20 PRKCG NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr) single nucleotide variant Pathogenic rs387906679 GRCh37 Chromosome 19, 54403866: 54403866
21 PRKCG NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr) single nucleotide variant Pathogenic rs387906679 GRCh38 Chromosome 19, 53900612: 53900612
22 PRKCG NM_002739.4(PRKCG): c.188G> T (p.Gly63Val) single nucleotide variant Pathogenic rs386134159 GRCh37 Chromosome 19, 54386434: 54386434
23 PRKCG NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr) single nucleotide variant Pathogenic rs386134162 GRCh37 Chromosome 19, 54392947: 54392947
24 PRKCG NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr) single nucleotide variant Pathogenic rs386134162 GRCh38 Chromosome 19, 53889693: 53889693
25 PRKCG NM_002739.4(PRKCG): c.188G> T (p.Gly63Val) single nucleotide variant Pathogenic rs386134159 GRCh38 Chromosome 19, 53883180: 53883180
26 PRKCG NM_002739.4(PRKCG): c.296_301del (p.His101_Lys102del) deletion Pathogenic rs386134161 GRCh37 Chromosome 19, 54392902: 54392907
27 PRKCG NM_002739.4(PRKCG): c.296_301del (p.His101_Lys102del) deletion Pathogenic rs386134161 GRCh38 Chromosome 19, 53889648: 53889653
28 PRKCG NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly) single nucleotide variant Pathogenic rs386134157 GRCh37 Chromosome 19, 54385824: 54385824
29 PRKCG NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly) single nucleotide variant Pathogenic rs386134157 GRCh38 Chromosome 19, 53882570: 53882570
30 PRKCG NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser) single nucleotide variant Pathogenic rs386134171 GRCh37 Chromosome 19, 54401351: 54401351
31 PRKCG NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser) single nucleotide variant Pathogenic rs386134171 GRCh38 Chromosome 19, 53898097: 53898097
32 PRKCG NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro) single nucleotide variant Pathogenic rs386134158 GRCh37 Chromosome 19, 54385870: 54385870
33 PRKCG NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro) single nucleotide variant Pathogenic rs386134158 GRCh38 Chromosome 19, 53882616: 53882616
34 PRKCG NM_002739.3(PRKCG): c.2075T> G (p.Val692Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs78437096 GRCh37 Chromosome 19, 54410130: 54410130
35 PRKCG NM_002739.3(PRKCG): c.2075T> G (p.Val692Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs78437096 GRCh38 Chromosome 19, 53906876: 53906876
36 PRKCG NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser) single nucleotide variant Pathogenic rs386134160 GRCh37 Chromosome 19, 54387441: 54387441
37 PRKCG NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser) single nucleotide variant Pathogenic rs386134160 GRCh38 Chromosome 19, 53884187: 53884187
38 PRKCG NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe) single nucleotide variant Likely pathogenic rs386134163 GRCh37 Chromosome 19, 54392962: 54392962
39 PRKCG NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe) single nucleotide variant Likely pathogenic rs386134163 GRCh38 Chromosome 19, 53889708: 53889708
40 PRKCG NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs386134164 GRCh37 Chromosome 19, 54392973: 54392973
41 PRKCG NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg) single nucleotide variant Pathogenic rs386134164 GRCh38 Chromosome 19, 53889719: 53889719
42 PRKCG NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu) single nucleotide variant Pathogenic rs386134165 GRCh37 Chromosome 19, 54392974: 54392974
43 PRKCG NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu) single nucleotide variant Pathogenic rs386134165 GRCh38 Chromosome 19, 53889720: 53889720
44 PRKCG NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs386134166 GRCh37 Chromosome 19, 54392997: 54392997
45 PRKCG NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg) single nucleotide variant Pathogenic rs386134166 GRCh38 Chromosome 19, 53889743: 53889743
46 PRKCG NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr) single nucleotide variant Pathogenic rs386134167 GRCh37 Chromosome 19, 54392998: 54392998
47 PRKCG NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr) single nucleotide variant Pathogenic rs386134167 GRCh38 Chromosome 19, 53889744: 53889744
48 PRKCG NM_002739.4(PRKCG): c.413T> A (p.Val138Glu) single nucleotide variant Pathogenic rs386134168 GRCh37 Chromosome 19, 54393155: 54393155
49 PRKCG NM_002739.4(PRKCG): c.413T> A (p.Val138Glu) single nucleotide variant Pathogenic rs386134168 GRCh38 Chromosome 19, 53889901: 53889901
50 PRKCG NM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe) indel Pathogenic rs386134170 GRCh37 Chromosome 19, 54393191: 54393192

Expression for Spinocerebellar Ataxia 14

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

Pathways for Spinocerebellar Ataxia 14

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 cytoplasm GO:0005737 9.4 APTX ATG5 CASP3 DDIT3 EEA1 GJA1
2 gap junction GO:0005921 9.16 GJA1 GJA8
3 connexin complex GO:0005922 8.96 GJA1 GJA8

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

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.85 ATG5 CASP3 DDIT3 GJA1 ITPR1
2 transmembrane transport GO:0055085 9.65 GJA1 GJA8 ITPR1 SLC17A6 TRPC3
3 platelet activation GO:0030168 9.61 ITPR1 PRKCG TRPC3
4 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.48 DDIT3 ITPR1
5 PERK-mediated unfolded protein response GO:0036499 9.4 DDIT3 HSPA5
6 ER overload response GO:0006983 9.37 DDIT3 HSPA5
7 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.32 DDIT3 HSPA5
8 ATF6-mediated unfolded protein response GO:0036500 9.16 DDIT3 HSPA5
9 response to unfolded protein GO:0006986 9.13 DDIT3 HSPA4 HSPA5
10 luteolysis GO:0001554 8.62 CASP3 HSPA5

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.96 GJA1 GJA8
2 inositol 1,4,5 trisphosphate binding GO:0070679 8.62 ITPR1 TRPC3

Sources for Spinocerebellar Ataxia 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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