JBTS2
MCID: JBR004
MIFTS: 48

Joubert Syndrome 2 (JBTS2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Name: Joubert Syndrome 2 57 12 20 73 29 13 6 44 15 71
Cerebellooculorenal Syndrome 2 57 12 20 73
Jbts2 57 12 20 73
Cors2 57 12 20 73
Cerebellooculorenal Syndrome 2; Cors2 57
Cerebello-Oculo-Renal Syndrome 2 73
Joubert Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity


HPO:

31
joubert syndrome 2:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Joubert Syndrome 2

OMIM® : 57 Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999). (608091) (Updated 05-Mar-2021)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to oculomotor apraxia and pathologic nystagmus, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology : 12 A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2.

UniProtKB/Swiss-Prot : 73 Joubert syndrome 2: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Related Diseases for Joubert Syndrome 2

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35 Joubert Syndrome 36
Joubert Syndrome 37

Diseases related to Joubert Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 oculomotor apraxia 30.1 NPHP1 AHI1
2 pathologic nystagmus 29.7 TMEM67 MKS1 CEP290
3 arima syndrome 29.6 TMEM216 TMEM138 CEP290 CC2D2A
4 apraxia 29.5 TMEM67 NPHP1 CEP290 CC2D2A AHI1
5 joubert syndrome 1 26.3 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
6 joubert syndrome 16 11.0
7 retinal aplasia 10.2 NPHP1 CEP290
8 joubert syndrome 15 10.1 RPGRIP1L NPHP1 CC2D2A
9 nephronophthisis 18 10.0 NPHP1 C2CD3
10 leber congenital amaurosis 6 10.0 MKS1 CEP290
11 alstrom syndrome 10.0 RPGRIP1L CEP290
12 nephronophthisis 15 10.0 NPHP1 C2CD3
13 bardet-biedl syndrome 13 10.0 MKS1 CEP290
14 enophthalmos 10.0 CEP290 AHI1
15 bardet-biedl syndrome 16 10.0 MKS1 CEP290
16 meningocele 10.0 TMEM67 C2CD3
17 acrocallosal syndrome 10.0 TMEM216 RPGRIP1L NPHP1 AHI1
18 bardet-biedl syndrome 8 10.0 MKS1 CEP290
19 orofaciodigital syndrome i 9.9 OFD1 CEP290
20 ataxia and polyneuropathy, adult-onset 9.9
21 hypotonia 9.9
22 juvenile nephronophthisis 9.9 TMEM67 NPHP1 CEP290
23 congenital hepatic fibrosis 9.9 TMEM67 RPGRIP1L CC2D2A AHI1
24 oligohydramnios 9.9 TMEM67 MKS1 CC2D2A
25 bardet-biedl syndrome 11 9.9 RPGRIP1L MKS1 CEP290
26 nephronophthisis 16 9.9 TMEM67 RPGRIP1L NPHP1 CEP290
27 bardet-biedl syndrome 6 9.9 RPGRIP1L MKS1 CEP290
28 simpson-golabi-behmel syndrome, type 2 9.9 OFD1 CEP290
29 polycystic kidney disease 2 with or without polycystic liver disease 9.9 TMEM67 MKS1 ARL13B
30 joubert syndrome 14 9.8 TMEM216 RPGRIP1L NPHP1 B9D2
31 orofaciodigital syndrome v 9.8 OFD1 C2CD3
32 retinal degeneration 9.8 TMEM67 RPGRIP1L NPHP1 CEP290
33 bardet-biedl syndrome 3 9.8 MKS1 CEP290
34 kidney disease 9.8 TMEM67 NPHP1 CEP290 CC2D2A AHI1
35 renal-hepatic-pancreatic dysplasia 9.8 OFD1 NPHP1 CEP290
36 nephronophthisis 19 9.8 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
37 retinitis pigmentosa 2 9.7 CEP290 ARL13B
38 cogan syndrome 9.7 RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
39 meckel syndrome, type 7 9.7 TMEM216 MKS1 CC2D2A B9D2
40 joubert syndrome 24 9.7 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
41 bardet-biedl syndrome 1 9.7 TMEM67 TMEM216 NPHP1 MKS1 CEP290
42 johanson-blizzard syndrome 9.7 TMEM216 TMEM138 RPGRIP1L CEP290 CC2D2A
43 orofaciodigital syndrome iv 9.6 TMEM216 OFD1 C2CD3
44 nephronophthisis 11 9.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
45 nephronophthisis 12 9.6 TMEM138 RPGRIP1L NPHP1 CEP290 B9D2
46 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 TMEM67 TMEM216 OFD1 C2CD3
47 encephalocele 9.5 TMEM67 MKS1 CEP290 CC2D2A B9D2
48 bardet-biedl syndrome 14 9.4 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
49 nephronophthisis 14 9.4 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
50 nephronophthisis 1 9.4 RPGRIP1L NPHP1 MKS1 CC2D2A B9D2 AHI1

Graphical network of the top 20 diseases related to Joubert Syndrome 2:



Diseases related to Joubert Syndrome 2

Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 failure to thrive 31 HP:0001508
4 frontal bossing 31 HP:0002007
5 nystagmus 31 HP:0000639
6 ataxia 31 HP:0001251
7 high palate 31 HP:0000218
8 hydrocephalus 31 HP:0000238
9 global developmental delay 31 HP:0001263
10 depressed nasal bridge 31 HP:0005280
11 hypertelorism 31 HP:0000316
12 visual impairment 31 HP:0000505
13 low-set ears 31 HP:0000369
14 dolichocephaly 31 HP:0000268
15 chorioretinal coloboma 31 HP:0000567
16 microphthalmia 31 HP:0000568
17 optic nerve coloboma 31 HP:0000588
18 nephronophthisis 31 HP:0000090
19 postaxial hand polydactyly 31 HP:0001162
20 encephalocele 31 HP:0002084
21 retinal dystrophy 31 HP:0000556
22 molar tooth sign on mri 31 HP:0002419
23 renal cyst 31 HP:0000107
24 oculomotor apraxia 31 HP:0000657
25 generalized hypotonia 31 HP:0001290
26 central apnea 31 HP:0002871
27 episodic tachypnea 31 HP:0002876
28 hypoplastic male external genitalia 31 HP:0000050
29 esotropia 31 HP:0000565
30 dysgenesis of the cerebellar vermis 31 HP:0002195
31 agenesis of cerebellar vermis 31 HP:0002335
32 abnormal corpus callosum morphology 31 HP:0001273
33 abnormal renal physiology 31 HP:0012211
34 brainstem dysplasia 31 HP:0002508
35 hypoplasia of the brainstem 31 HP:0002365
36 abnormal saccadic eye movements 31 HP:0000570
37 impaired smooth pursuit 31 HP:0007772
38 abnormality of ocular smooth pursuit 31 HP:0000617
39 elongated superior cerebellar peduncle 31 HP:0011933
40 hypotonia 31 HP:0001252
41 abnormal foot morphology 31 HP:0001760
42 neonatal breathing dysregulation 31 HP:0002790
43 enlarged fossa interpeduncularis 31 HP:0100951
44 thickened superior cerebellar peduncle 31 HP:0002404

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
dolichocephaly

Head And Neck Face:
frontal bossing

Neurologic Central Nervous System:
ataxia
hydrocephalus
encephalocele
hypoplasia of the brainstem
hypotonia
more
Head And Neck Ears:
low-set ears

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Abdomen Gastrointestinal:
poor feeding in infancy
swallowing and chewing difficulties

Skeletal Hands:
polydactyly, postaxial

Growth Other:
failure to thrive

Head And Neck Eyes:
nystagmus
hypertelorism
visual impairment
chorioretinal coloboma
microphthalmia
more
Head And Neck Nose:
depressed nasal bridge

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function (variable)

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
hypoplastic genitalia

Skeletal Feet:
polydactyly, postaxial

Clinical features from OMIM®:

608091 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 2:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 2:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
2 cardiovascular system MP:0005385 10.18 B9D2 C2CD3 CC2D2A CEP290 MKS1 OFD1
3 growth/size/body region MP:0005378 10.17 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
4 mortality/aging MP:0010768 10.07 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
5 embryo MP:0005380 10.06 ARL13B B9D2 C2CD3 CC2D2A MKS1 OFD1
6 nervous system MP:0003631 10.06 AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
7 craniofacial MP:0005382 10.04 B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
8 renal/urinary system MP:0005367 9.96 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
9 digestive/alimentary MP:0005381 9.95 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
10 limbs/digits/tail MP:0005371 9.95 B9D2 C2CD3 CC2D2A MKS1 OFD1 RPGRIP1L
11 respiratory system MP:0005388 9.7 ARL13B B9D2 CC2D2A CEP290 MKS1 OFD1
12 skeleton MP:0005390 9.5 B9D2 CEP290 MKS1 OFD1 RPGRIP1L TMEM138
13 vision/eye MP:0005391 9.28 AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1

Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

# Genetic test Affiliating Genes
1 Joubert Syndrome 2 29 TMEM216

Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

40
Eye, Brain

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

# Title Authors PMID Year
1
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 57 6 61
20512146 2010
2
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 61 57 6
20036350 2010
3
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 61 57
15786477 2005
4
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. 57
12917796 2003
5
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 57
12908130 2003
6
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 57
10508989 1999
7
Clinical nosologic and genetic aspects of Joubert and related syndromes. 57
10511339 1999
8
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. 57
9373798 1997
9
C2cd3 is required for cilia formation and Hedgehog signaling in mouse. 61
19004860 2008

Variations for Joubert Syndrome 2

ClinVar genetic disease variations for Joubert Syndrome 2:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM216 NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) SNV Pathogenic 198 rs201108965 11:61161437-61161437 11:61393965-61393965
2 TMEM216 NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) SNV Pathogenic 197 rs201108965 11:61161437-61161437 11:61393965-61393965
3 TMEM216 NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) SNV Pathogenic 217705 rs779526456 11:61161436-61161436 11:61393964-61393964
4 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Pathogenic 56384 rs11230683 11:61165269-61165269 11:61397797-61397797
5 TMEM216 NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) SNV Pathogenic 217704 rs755459875 11:61165414-61165414 11:61397942-61397942
6 TMEM216 NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) SNV Pathogenic/Likely pathogenic 56384 rs11230683 11:61165269-61165269 11:61397797-61397797
7 TMEM216 NM_001173990.3(TMEM216):c.35-2A>G SNV Likely pathogenic 371778 rs1057517528 11:61160701-61160701 11:61393229-61393229
8 TMEM216 NM_001173990.3(TMEM216):c.34+2T>C SNV Likely pathogenic 371740 rs1057517498 11:61160139-61160139 11:61392667-61392667
9 TMEM216 NM_001173990.3(TMEM216):c.222del (p.Phe76fs) Deletion Likely pathogenic 371759 rs1057517512 11:61161441-61161441 11:61393969-61393969
10 TMEM216 NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) SNV Likely pathogenic 554706 rs147267631 11:61165352-61165352 11:61397880-61397880
11 TMEM216 NM_001173990.3(TMEM216):c.137-1G>A SNV Likely pathogenic 558218 rs1554972547 11:61161355-61161355 11:61393883-61393883
12 TMEM216 NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) Insertion Likely pathogenic 558417 rs1554972958 11:61165332-61165333 11:61397860-61397861
13 TMEM216 NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) Duplication Likely pathogenic 371710 rs767384710 11:61161441-61161442 11:61393969-61393970
14 TMEM216 NM_001173990.3(TMEM216):c.228del (p.Phe76fs) Deletion Likely pathogenic 371763 rs767384710 11:61161442-61161442 11:61393970-61393970
15 TMEM216 NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) SNV Likely pathogenic 217706 rs541666319 11:61161435-61161435 11:61393963-61393963
16 TMEM216 NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) SNV Likely pathogenic 197 rs201108965 11:61161437-61161437 11:61393965-61393965
17 TMEM216 NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) Deletion Likely pathogenic 551831 rs1554972556 11:61161380-61161384 11:61393908-61393912
18 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsAC Indel Uncertain significance 552510 rs1554973021 11:61165732-61165732 11:61398260-61398260
19 TMEM216 NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) Duplication Uncertain significance 553034 rs1554972964 11:61165353-61165354 11:61397881-61397882
20 TMEM216 NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) SNV Uncertain significance 598600 rs769285695 11:61160725-61160725 11:61393253-61393253
21 TMEM216 NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) SNV Uncertain significance 700949 rs900061092 11:61160791-61160791 11:61393319-61393319
22 TMEM216 NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) SNV Uncertain significance 498870 rs900061092 11:61160791-61160791 11:61393319-61393319
23 TMEM216 NM_001173990.3(TMEM216):c.229+10G>A SNV Uncertain significance 704104 rs1590642512 11:61161458-61161458 11:61393986-61393986
24 TMEM216 NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) SNV Uncertain significance 701104 rs528921796 11:61165340-61165340 11:61397868-61397868
25 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) SNV Uncertain significance 289981 rs762918371 11:61161359-61161359 11:61393887-61393887
26 TMEM216 NM_001173990.3(TMEM216):c.*190A>G SNV Uncertain significance 877370 11:61165938-61165938 11:61398466-61398466
27 TMEM216 NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) SNV Uncertain significance 305078 rs201614099 11:61165305-61165305 11:61397833-61397833
28 TMEM216 NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) SNV Uncertain significance 289981 rs762918371 11:61161359-61161359 11:61393887-61393887
29 TMEM216 NM_001173990.3(TMEM216):c.-24C>T SNV Uncertain significance 305076 rs59493015 11:61160080-61160080 11:61392608-61392608
30 TMEM216 NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) SNV Uncertain significance 991119 11:61165352-61165352 11:61397880-61397880
31 TMEM216 NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) SNV Uncertain significance 305080 rs200289511 11:61165374-61165374 11:61397902-61397902
32 TMEM216 NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) SNV Uncertain significance 305081 rs749351351 11:61165436-61165436 11:61397964-61397964
33 TMEM216 NM_001173990.3(TMEM216):c.137-7T>C SNV Uncertain significance 991118 11:61161349-61161349 11:61393877-61393877
34 TMEM216 NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) SNV Uncertain significance 597583 rs568253718 11:61160781-61160781 11:61393309-61393309
35 TMEM216 NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) SNV Uncertain significance 991117 11:61160129-61160129 11:61392657-61392657
36 TMEM216 NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) SNV Uncertain significance 851043 11:61165270-61165270 11:61397798-61397798
37 TMEM216 NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) SNV Uncertain significance 855127 11:61160114-61160114 11:61392642-61392642
38 TMEM216 NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) SNV Uncertain significance 452672 rs1554972409 11:61160110-61160110 11:61392638-61392638
39 TMEM216 NM_001173990.3(TMEM216):c.230-9dup Duplication Uncertain significance 557532 rs1554972934 11:61165236-61165237 11:61397764-61397765
40 TMEM216 NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG Indel Uncertain significance 558461 rs1554973024 11:61165732-61165734 11:61398260-61398262
41 TMEM216 NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) SNV Uncertain significance 556222 rs1554972406 11:61160105-61160105 11:61392633-61392633
42 TMEM216 NM_001173990.3(TMEM216):c.432-10delinsAA Indel Uncertain significance 557306 rs1554973021 11:61165732-61165732 11:61398260-61398260
43 TMEM216 NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) Deletion Uncertain significance 557444 rs1554972400 11:61160094-61160113 11:61392622-61392641
44 TMEM216 NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) SNV Uncertain significance 557516 rs1554972406 11:61160105-61160105 11:61392633-61392633
45 TMEM216 NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) SNV Uncertain significance 557517 rs1287246452 11:61160104-61160104 11:61392632-61392632
46 TMEM216 NC_000011.10:g.61392347A>G SNV Uncertain significance 878303 11:61159819-61159819 11:61392347-61392347
47 TMEM216 NM_001173991.2(TMEM216):c.-264C>T SNV Uncertain significance 878304 11:61159840-61159840 11:61392368-61392368
48 TMEM216 NM_001173990.3(TMEM216):c.*377T>C SNV Uncertain significance 878392 11:61166125-61166125 11:61398653-61398653
49 TMEM216 NM_001173990.3(TMEM216):c.*393C>T SNV Uncertain significance 878393 11:61166141-61166141 11:61398669-61398669
50 TMEM216 NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) SNV Uncertain significance 878935 11:61165398-61165398 11:61397926-61397926

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 TMEM216 p.Arg73Leu VAR_063388 rs201108965
2 TMEM216 p.Arg73Cys VAR_064028 rs779526456
3 TMEM216 p.Arg73His VAR_064029 rs201108965
4 TMEM216 p.Leu89Phe VAR_068170 rs780098806

Expression for Joubert Syndrome 2

Search GEO for disease gene expression data for Joubert Syndrome 2.

Pathways for Joubert Syndrome 2

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2 cytosol GO:0005829 10.18 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3 cytoskeleton GO:0005856 10.11 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
4 centrosome GO:0005813 10.01 TMEM67 RPGRIP1L OFD1 MKS1 CEP290 C2CD3
5 ciliary basal body GO:0036064 9.87 RPGRIP1L OFD1 MKS1 CEP290 C2CD3 B9D2
6 microtubule organizing center GO:0005815 9.83 RPGRIP1L OFD1 MKS1 CEP290
7 centriole GO:0005814 9.83 OFD1 MKS1 CEP290 C2CD3 AHI1
8 MKS complex GO:0036038 9.8 TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
9 cilium GO:0005929 9.73 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
10 cell-cell junction GO:0005911 9.72 RPGRIP1L NPHP1 AHI1
11 motile cilium GO:0031514 9.71 OFD1 NPHP1 ARL13B
12 ciliary transition zone GO:0035869 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
13 centriolar satellite GO:0034451 9.67 OFD1 CEP290 C2CD3
14 photoreceptor connecting cilium GO:0032391 9.63 RPGRIP1L NPHP1 CEP290
15 non-motile cilium GO:0097730 9.56 ARL13B AHI1
16 cell projection GO:0042995 9.44 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.9 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2 non-motile cilium assembly GO:1905515 9.73 TMEM216 RPGRIP1L MKS1 CC2D2A C2CD3 ARL13B
3 cell projection organization GO:0030030 9.7 TMEM67 TMEM216 TMEM138 OFD1 NPHP1 MKS1
4 determination of left/right symmetry GO:0007368 9.62 RPGRIP1L MKS1 CC2D2A ARL13B
5 heart looping GO:0001947 9.58 C2CD3 ARL13B AHI1
6 regulation of smoothened signaling pathway GO:0008589 9.54 RPGRIP1L MKS1 C2CD3
7 motile cilium assembly GO:0044458 9.52 MKS1 CC2D2A
8 hindbrain development GO:0030902 9.51 CEP290 AHI1
9 head development GO:0060322 9.49 RPGRIP1L MKS1
10 embryonic brain development GO:1990403 9.48 MKS1 CC2D2A
11 left/right axis specification GO:0070986 9.46 ARL13B AHI1
12 neural tube patterning GO:0021532 9.43 RPGRIP1L ARL13B
13 cilium assembly GO:0060271 9.4 TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 MKS1

Molecular functions related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 OFD1 B9D2

Sources for Joubert Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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