HDL2
MCID: HNT004
MIFTS: 47

Huntington Disease-Like 2 (HDL2)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease-Like 2

MalaCards integrated aliases for Huntington Disease-Like 2:

Name: Huntington Disease-Like 2 58 12 25 60 76 30 13 56 6 74
Hdl2 58 12 60 76
Huntington's Disease-Like 2 12 15
Huntington Disease-Like, Type 2 41

Characteristics:

Orphanet epidemiological data:

60
huntington disease-like 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 35-40 years
normal alleles contain 6 to 28 repeats
pathogenic alleles contain greater than 41 repeats


HPO:

33
huntington disease-like 2:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance For ethical reasons, only a few unaffected individuals from families with hdl2 have been tested; therefore, the penetrance is unknown...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Huntington Disease-Like 2

UniProtKB/Swiss-Prot : 76 Huntington disease-like 2: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life.

MalaCards based summary : Huntington Disease-Like 2, also known as hdl2, is related to choreoacanthocytosis and huntington disease, and has symptoms including action tremor, bradykinesia and muscle rigidity. An important gene associated with Huntington Disease-Like 2 is JPH3 (Junctophilin 3). The drugs Atorvastatin and Pitavastatin have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and caudate nucleus, and related phenotypes are personality changes and gait disturbance

Disease Ontology : 12 A neurodegenerative disease characterized by autosomal dominant inheritance of a involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset that has material basis in a heterozygous expansion of a CAG/CTG repeat in the JPH3 gene on chromosome 16q24.

Description from OMIM: 606438
GeneReviews: NBK1529

Related Diseases for Huntington Disease-Like 2

Graphical network of the top 20 diseases related to Huntington Disease-Like 2:



Diseases related to Huntington Disease-Like 2

Symptoms & Phenotypes for Huntington Disease-Like 2

Human phenotypes related to Huntington Disease-Like 2:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 personality changes 60 33 frequent (33%) Frequent (79-30%) HP:0000751
2 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
3 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
4 chorea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002072
5 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
6 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332
7 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
8 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
9 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
10 parkinsonism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001300
11 functional motor deficit 60 33 occasional (7.5%) Occasional (29-5%) HP:0004302
12 caudate atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002340
13 primitive reflex 60 33 occasional (7.5%) Occasional (29-5%) HP:0002476
14 depressivity 33 HP:0000716
15 dysarthria 33 HP:0001260
16 behavioral abnormality 60 Occasional (29-5%)
17 hallucinations 33 HP:0000738
18 abnormality of movement 60 Frequent (79-30%)
19 irritability 33 HP:0000737
20 anxiety 33 HP:0000739
21 rigidity 33 HP:0002063
22 involuntary movements 60 Occasional (29-5%)
23 action tremor 33 HP:0002345
24 bradykinesia 33 HP:0002067
25 apathy 33 HP:0000741
26 delusions 33 HP:0000746
27 abnormality of the striatum 60 Occasional (29-5%)
28 abnormality of the cerebrum 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
chorea
dystonia
rigidity
more
Growth Weight:
weight loss

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
irritability
anxiety
apathy
delusions
more

Clinical features from OMIM:

606438

UMLS symptoms related to Huntington Disease-Like 2:


action tremor, bradykinesia, muscle rigidity

Drugs & Therapeutics for Huntington Disease-Like 2

Drugs for Huntington Disease-Like 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4,Phase 3 134523-00-5 60823
2
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
3
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
4
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
5
Methyltestosterone Approved Phase 4 58-18-4 6010
6
Testosterone enanthate Approved Phase 4 315-37-7 9416
7
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
8
Calcium Approved, Nutraceutical Phase 4,Phase 3 7440-70-2 271
9
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
12 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
13 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
16 Calcium, Dietary Phase 4,Phase 3
17 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Nicotinic Acids Phase 4
19 Trace Elements Phase 4
20 Vitamin B9 Phase 4
21 Vasodilator Agents Phase 4
22 Vitamin B Complex Phase 4
23 Vitamin B3 Phase 4
24 Vitamins Phase 4
25 Folate Phase 4
26 Nutrients Phase 4,Not Applicable
27 Micronutrients Phase 4
28 Hormone Antagonists Phase 4,Phase 3
29 Antineoplastic Agents, Hormonal Phase 4
30 Anabolic Agents Phase 4
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
32 Testosterone 17 beta-cypionate Phase 4
33 Hormones Phase 4,Phase 3
34 Androgens Phase 4
35
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
36
Ezetimibe Approved Phase 3 163222-33-1 150311
37
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
38
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
39
Polyestradiol phosphate Approved Phase 3 28014-46-2
40
Racepinephrine Approved Phase 3 329-65-7 838
41
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
42
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
43
Glipizide Approved, Investigational Phase 3 29094-61-9 3478
44
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
45
Simvastatin Approved Phase 3 79902-63-9 54454
46
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
47
Maleic acid Experimental, Investigational Phase 3 110-17-8, 110-16-7 444972
48 Anti-Obesity Agents Phase 3
49 Neurotransmitter Agents Phase 3
50 Cannabinoid Receptor Antagonists Phase 3

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin Therapy on HDL2 Level Unknown status NCT02593487 Phase 4 Rosuvastatin 10mg/d group;Rosuvastatin 20mg/d group
2 Comparison of Pitavastatin With Atorvastatin in Increasing High Density Lipoprotein - Cholesterol (HDL-C) and Adiponectin in Patients With Dyslipidemia and Coronary Artery Disease (CAD) Completed NCT00861861 Phase 4 Pitavastatin;Atorvastatin
3 SLIM: Combined Effects of Slo-Niacin and Atorvastatin on Lipoproteins and Inflammatory Markers in Hyperlipidemia Completed NCT00194402 Phase 4 Slo-Niacin, atorvastatin
4 The Effect of Testosterone Replacement on the High Density Lipoprotein Cholesterol Subgroups Completed NCT01454011 Phase 4 Testosteron 250mg injection;Testosterone 50mg transdermal application
5 Japan Assessment of Pitavastatin and Atorvastatin in Acute Coronary Syndrome (JAPAN-ACS) Completed NCT00242944 Phase 4 Pitavastatin;Atorvastatin
6 An International Study of Rimonabant in Dyslipidemia With AtheroGenic Risk In Abdominally Obese Patients Completed NCT00239967 Phase 3 Rimonabant (SR141716);Placebo
7 A Study to Investigate the Effect of Rosuvastatin (CRESTOR®) on High Density Lipoprotein Kinetics in Patients With the Metabolic Syndrome Completed NCT00240305 Phase 3 Rosuvastatin
8 An Efficacy and Safety Study of Ezetimibe (MK-0653, SCH 58235) in Addition to Atorvastatin Compared to Placebo in Participants With Primary Hypercholesterolemia (MK-0653-013) Completed NCT03867110 Phase 3 Placebo;Ezetimibe 10 mg;Atorvastatin 10 mg;Atorvastatin 20 mg;Atorvastatin 40 mg;Atorvastatin 80 mg
9 Effects on Hemostasis, Lipids, Carbohydrate Metabolism, Adrenal & Thyroid Function of the Combined Oral Contraceptive NOMAC-E2 Compared to a COC Containing LNG-EE (292004)(COMPLETED)(P05764) Completed NCT00511355 Phase 3 NOMAC-E2;Levonorgestrel and Ethinyl Estradiol
10 Rosiglitazone Versus a Sulfonylurea On Progression Of Atherosclerosis In Patients With Heart Disease And Type 2 Diabetes Completed NCT00116831 Phase 3 Glipizide;rosiglitazone maleate
11 Ezetimibe (SCH 58235) Taken With Either Atorvastatin or Simvastatin in Participants With Familial Hypercholesterolemia (MK-0653-018) Completed NCT03884452 Phase 3 Atorvastatin;Simvastatin;Ezetimibe;Placebo for Ezetimibe
12 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
13 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
14 Barley Protein and CVD Completed NCT00334308 Phase 2
15 Decreasing Risk of Coronary Artery Disease in Schizophrenia by Omega-3 Fatty Acid Supplementation Completed NCT00167310 Phase 2 Eicosapentaenoic acid (omega-3 fatty acid);Placebo
16 A Study to Assess the Effect of RO4607381 in Patients With Relatively Low Levels of High Density Lipoprotein-Cholesterol (HDL-C) Completed NCT00697203 Phase 2 Placebo;Pravastatin;dalceptrapib;dalceptrapib;dalceptrapib
17 Low Carbohydrate Portfolio or "Eco-Atkins" Diet Completed NCT00256516 Phase 2
18 Effect of Saturated Fat on Large Low-density Lipoprotein (LDL) and High-density Lipoprotein (HDL) Completed NCT00895141 Not Applicable
19 Lipoprotein Effects of Substituting Beef Protein for Carbohydrate Completed NCT00852267 Not Applicable
20 Effects of Polyphenolic-rich Dark Chocolate/Cocoa and Almonds on Cardiovascular Disease Risk Factors Completed NCT01882881 Not Applicable
21 Effects of Walnuts on Central Blood Pressure, Arterial Stiffness Indices, Lipoproteins, and Other CVD Risk Factors Completed NCT02210767 Not Applicable
22 EPA Supplementation on Vascular Inflammation, and Gene Expression of PON2 in Patients With Type II Diabetes Mellitus Completed NCT03258840 Not Applicable
23 the Change of Cholesterol Efflux Capacity and Coronary Artery Disease in Real Clinical Practice Not yet recruiting NCT03389529
24 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312 Not Applicable
25 Effect of a Spice Blend on Cardiovascular Risk Factors and Diet Satisfaction Recruiting NCT03064932 Not Applicable
26 Dietary Protein Sources and Atherogenic Dyslipidemia Completed NCT01427855 Not Applicable
27 Effects of Exercise Mode on Abdominal Fat Loss Recruiting NCT03700827 Not Applicable
28 A Defined, Plant-based, 4-week Dietary Intervention Reduces Lp(a) and Other Atherogenic Particles Completed NCT03172611 Not Applicable

Search NIH Clinical Center for Huntington Disease-Like 2

Genetic Tests for Huntington Disease-Like 2

Genetic tests related to Huntington Disease-Like 2:

# Genetic test Affiliating Genes
1 Huntington Disease-Like 2 30 JPH3

Anatomical Context for Huntington Disease-Like 2

MalaCards organs/tissues related to Huntington Disease-Like 2:

42
Heart, Liver, Caudate Nucleus, Bone, Testes, Thyroid, Adipocyte

Publications for Huntington Disease-Like 2

Articles related to Huntington Disease-Like 2:

(show top 50) (show all 163)
# Title Authors Year
1
Higher High Density Lipoprotein 2 (HDL2) to Total HDL Cholesterol Ratio Is Associated with a Lower Risk for Incident Hypertension. ( 30302964 )
2019
2
Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. ( 30130521 )
2018
3
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
4
Featured Article: Depletion of HDL3 high density lipoprotein and altered functionality of HDL2 in blood from sickle cell patients. ( 28436274 )
2017
5
Type 2 Diabetes in Young Females Results in Increased Serum Amyloid A and Changes to Features of High Density Lipoproteins in Both HDL2 and HDL3. ( 28596970 )
2017
6
Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level. ( 28207870 )
2017
7
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease. ( 27288455 )
2016
8
The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. ( 26882115 )
2016
9
Quantitative Proteomic Analysis Reveals Similarities between Huntington's Disease (HD) and Huntington's Disease-Like 2 (HDL2) Human Brains. ( 27486686 )
2016
10
HDL2/HDL3 Ratio Changes, Metabolic Syndrome Markers, and Other Factors in a Japanese Population. ( 26686740 )
2016
11
Refined purification strategy for reliable proteomic profiling of HDL2/3: Impact on proteomic complexity. ( 27917957 )
2016
12
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. ( 26079385 )
2015
13
Chemical modification of high density lipoprotein subfractions - HDL2 and HDL3 - after use of atorvastatin. ( 24548977 )
2014
14
HDL2-cholesterol/HDL3-cholesterol ratio was associated with insulin resistance, high-molecular-weight adiponectin, and components for metabolic syndrome in Japanese. ( 25201260 )
2014
15
Activation of paraoxonase 1 after hemodialysis is associated with HDL remodeling and its increase in the HDL2 fraction and VLDL. ( 24384301 )
2014
16
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin. ( 22971727 )
2013
17
α-Tocopherol induces proatherogenic changes to HDL2 & HDL3: an in vitro and ex vivo investigation. ( 23287638 )
2013
18
Angiotensinogen gene polymorphism and HDL2 are linked to coronary artery calcification in individuals with family history of early coronary disease. ( 23273503 )
2013
19
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. ( 22367996 )
2012
20
High-density lipoprotein cholesterol subfractions HDL2 and HDL3 are reduced in women with rheumatoid arthritis and may augment the cardiovascular risk of women with RA: a cross-sectional study. ( 22584154 )
2012
21
Associations between small dense LDL, HDL subfractions (HDL2, HDL3) and risk of atherosclerosis in Japanese-Americans. ( 22659528 )
2012
22
Fifty-three year follow-up of coronary heart disease versus HDL2 and other lipoproteins in Gofman's Livermore Cohort. ( 22128321 )
2012
23
Functionality of postprandial larger HDL2 particles is enhanced following CETP inhibition therapy. ( 22265126 )
2012
24
HDL2 interferes with LDL association with arterial proteoglycans: a possible athero-protective effect. ( 22999079 )
2012
25
Prospective study of coronary heart disease vs. HDL2, HDL3, and other lipoproteins in Gofman's Livermore Cohort. ( 21109246 )
2011
26
Aldosterone production in human adrenocortical cells is stimulated by high-density lipoprotein 2 (HDL2) through increased expression of aldosterone synthase (CYP11B2). ( 21239432 )
2011
27
HDL3, but not HDL2, stimulates plasminogen activator inhibitor-1 release from adipocytes: the role of sphingosine-1-phosphate. ( 20522601 )
2010
28
HDL2 can inhibit further oxidative modification of partially oxidized LDL. ( 19942787 )
2010
29
Serum oxidized LDL is inversely associated with HDL2-cholesterol subclass in renal failure patients on hemodialysis. ( 20424480 )
2010
30
Elevated HDL2-paraoxonase and reduced CETP activity are associated with a dramatically lower ratio of LDL-cholesterol/total cholesterol in a hypercholesterolemic and hypertriglyceridemic patient. ( 20428800 )
2010
31
Postprandial lipemia enhances the capacity of large HDL2 particles to mediate free cholesterol efflux via SR-BI and ABCG1 pathways in type IIB hyperlipidemia. ( 20713650 )
2010
32
Torcetrapib differentially modulates the biological activities of HDL2 and HDL3 particles in the reverse cholesterol transport pathway. ( 19038848 )
2009
33
Estimation of VLDL, IDL, LDL, HDL2, apoA-I, and apoB from the Friedewald inputs--apoB and IDL, but not LDL, are associated with mortality in type 1 diabetes. ( 19412820 )
2009
34
Huntington disease-like 2: the first patient with apparent European ancestry. ( 18341606 )
2008
35
A comparison of huntington disease and huntington disease-like 2 neuropathology. ( 18379432 )
2008
36
Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive mothers and their small for gestational age newborns. ( 17605041 )
2008
37
Fatty liver is independently associated with alterations in circulating HDL2 and HDL3 subfractions. ( 18000185 )
2008
38
HDL2 of heavy alcohol drinkers enhances cholesterol efflux from raw macrophages via phospholipid-rich HDL 2b particles. ( 18498551 )
2008
39
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. ( 17708569 )
2007
40
Beyond HDL-cholesterol increase: phospholipid enrichment and shift from HDL3 to HDL2 in alcohol consumers. ( 17431276 )
2007
41
Effects of bezafibrate on HDL2/HDL3 ratio in postmenopausal hypertriglyceridemic women. ( 16891292 )
2006
42
Aerobic exercise and HDL2-C: a meta-analysis of randomized controlled trials. ( 15907854 )
2006
43
Fish protein improves blood pressure but alters HDL2 and HDL3 composition and tissue lipoprotein lipase activities in spontaneously hypertensive rats. ( 15309459 )
2005
44
Evaluation of serum lipids and high-density lipoprotein subfractions (HDL2, HDL3) in postmenopausal patients with breast cancer. ( 15724433 )
2005
45
The HDL2/HDL3 ratio in menopause. ( 15733886 )
2005
46
Both HDL3 and HDL2 exert a powerful anti-oxidative and protective effect against acceleration of oxidative modification of LDL by ascorbic acid. ( 16022192 )
2005
47
Effect of long-term hemodialysis on plasma lecithin: cholesterol acyltransferase activity and the amounts and compositions of HDL2 and HDL3 in hemodialysis-treated patients with chronic renal failure: a 9-year longitudinal study. ( 15277993 )
2004
48
Acute exposure to environmental tobacco smoke reduces HDL-C and HDL2-C. ( 15066367 )
2004
49
Huntington's Disease-like 2 (HDL2) in North America and Japan. ( 15468075 )
2004
50
Huntington's disease--like 2 can present as chorea-acanthocytosis. ( 14557581 )
2003

Variations for Huntington Disease-Like 2

ClinVar genetic disease variations for Huntington Disease-Like 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 JPH3 NM_001271604.2(JPH3): c.431_433CTG(6_27) (p.Ala150_Ala157del) NT expansion Pathogenic rs71156237 GRCh37 Chromosome 16, 87637894: 87637896
2 JPH3 NM_001271604.2(JPH3): c.431_433CTG(6_27) (p.Ala150_Ala157del) NT expansion Pathogenic rs71156237 GRCh38 Chromosome 16, 87604288: 87604290
3 JPH3 NM_001271604.2(JPH3): c.464_472delCTGCTGCTG (p.Ala155_Ala157del) deletion Benign/Likely benign rs71156237 GRCh37 Chromosome 16, 87637927: 87637935
4 JPH3 NM_001271604.2(JPH3): c.464_472delCTGCTGCTG (p.Ala155_Ala157del) deletion Benign/Likely benign rs71156237 GRCh38 Chromosome 16, 87604321: 87604329
5 JPH3 NM_001271604.2(JPH3): c.467_472dup (p.Ala157_Val158insAlaAla) duplication Benign rs71156237 GRCh38 Chromosome 16, 87604324: 87604329
6 JPH3 NM_001271604.2(JPH3): c.467_472dup (p.Ala157_Val158insAlaAla) duplication Benign rs71156237 GRCh37 Chromosome 16, 87637930: 87637935
7 JPH3 NM_020655.3(JPH3): c.955C> T (p.Arg319Trp) single nucleotide variant Uncertain significance rs148131421 GRCh38 Chromosome 16, 87644830: 87644830
8 JPH3 NM_020655.3(JPH3): c.955C> T (p.Arg319Trp) single nucleotide variant Uncertain significance rs148131421 GRCh37 Chromosome 16, 87678436: 87678436

Expression for Huntington Disease-Like 2

Search GEO for disease gene expression data for Huntington Disease-Like 2.

Pathways for Huntington Disease-Like 2

GO Terms for Huntington Disease-Like 2

Cellular components related to Huntington Disease-Like 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 junctional sarcoplasmic reticulum membrane GO:0014701 8.96 JPH1 JPH3
2 junctional membrane complex GO:0030314 8.62 JPH1 JPH3

Biological processes related to Huntington Disease-Like 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 release of sequestered calcium ion into cytosol GO:0051209 9.16 JPH1 JPH3
2 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 8.96 JPH1 JPH3
3 calcium ion transport into cytosol GO:0060402 8.62 JPH1 JPH3

Molecular functions related to Huntington Disease-Like 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-release channel activity GO:0015278 8.62 JPH1 JPH3

Sources for Huntington Disease-Like 2

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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