JPH3

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Name:	junctophilin 3
Symbol:	JPH3
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CAGL237 HDL2 JP-3 JP3
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Movement Disorders (gene panel)
• Movement Disorders (gene panel)

Related Diseases

• Huntington disease-like 2

Related Gene Panels

• Movement Disorders - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	99.99	1
  ACTB	100.00	1
  ACTL6B	99.90	1
  ADAR	99.84	1
  ADCY5	99.98	1
  ADH1C	99.94	1
  AFG3L2	99.97	1
  ALDH5A1	96.19	1
  ANO3	99.98	1
  AP3D1	100.00	1
  AP4M1	99.98	1
  APTX	99.92	1
  ARSA	99.99	1
  ARV1	99.85	1
  ARX	95.36	1
  ATM	99.83	1
  ATP13A2	99.96	1
  ATP1A3	99.98	1
  ATP6AP2	99.55	1
  ATP7B	100.00	1
  ATP8A2	100.00	1
  ATXN2	99.88	1
  AUH	99.95	1
  BCAP31	99.95	1
  BCS1L	99.99	1
  C19ORF12	99.99	1
  CACNA1A	99.98	1
  CACNA1B	100.00	1
  CACNA1E	99.82	1
  CARS2	99.99	1
  CHCHD2	99.89	1
  CHMP2B	99.80	1
  CHRNA4	100.00	1
  CHRNB2	99.99	1
  CIZ1	99.94	1
  CLPB	99.97	1
  CNTNAP1	99.98	1
  COASY	99.98	1
  COL6A3	99.99	1
  COQ9	99.62	1
  COX10	99.99	1
  COX15	100.00	1
  CP	99.95	1
  CRAT	99.99	1
  CSF1R	99.92	1
  CTC1	100.00	1
  CYP27A1	100.00	1
  DCAF17	99.84	1
  DCTN1	99.98	1
  DDC	99.67	1
  DEGS1	99.99	1
  DHDDS	98.65	1
  DHX30	99.96	1
  DLAT	99.65	1
  DLD	99.89	1
  DMXL2	99.86	1
  DNAJC13	99.86	1
  DNAJC5	99.99	1
  DNAJC6	99.48	1
  DNAL4	99.89	1
  DRD3	100.00	1
  EARS2	99.96	1
  ECHS1	100.00	1
  EEF1A2	100.00	1
  EIF4G1	100.00	1
  EPRS1	99.53	1
  ETHE1	84.97	1
  FA2H	99.98	1
  FASTKD2	99.93	1
  FBXO7	99.98	1
  FITM2	99.99	1
  FOXG1	99.91	1
  FOXRED1	100.00	1
  FTL	99.99	1
  FUCA1	98.72	1
  FUS	99.93	1
  GABRB2	99.92	1
  GAMT	100.00	1
  GBA1	96.92	1
  GBE1	99.73	1
  GCDH	100.00	1
  GCH1	99.94	1
  GFAP	99.99	1
  GFM2	99.87	1
  GIGYF2	99.94	1
  GJC2	100.00	1
  GLB1	100.00	1
  GRID2	100.00	1
  GM2A	100.00	1
  GNAL	100.00	1
  GNAO1	99.86	1
  GNB1	100.00	1
  GPR88	100.00	1
  GRIN1	100.00	1
  GRIN2B	99.99	1
  GRN	100.00	1
  GSX2	100.00	1
  GTPBP2	99.98	1
  HEXA	99.99	1
  HIBCH	99.70	1
  HPRT1	97.80	1
  HSD17B10	99.98	1
  HTRA2	99.99	1
  HTT	99.98	1
  IFIH1	99.84	1
  IREB2	99.90	1
  IRF2BPL	99.21	1
  JAM2	91.82	1
  JPH3	100.00	1
  KCNA4	100.00	1
  KCNMA1	99.89	1
  KCNQ2	100.00	1
  KCTD17	100.00	1
  KMT2B	99.99	1
  LIPT1	99.89	1
  LIPT2	99.99	1
  LRP10	99.99	1
  LRPPRC	99.80	1
  LRRK2	99.44	1
  LYST	99.87	1
  MAPT	99.80	1
  MAT1A	99.70	1
  MCOLN1	100.00	1
  MDH2	99.54	1
  MECP2	99.95	1
  MECR	99.63	1
  MED20	99.99	1
  MICU1	99.56	1
  MMADHC	99.76	1
  MPV17	99.98	1
  MRE11	99.93	1
  MRPS34	100.00	1
  MYBPC1	99.77	1
  MYORG	99.99	1
  NAXD	99.99	1
  NDUFA1	99.93	1
  NDUFA10	99.98	1
  NDUFA12	99.21	1
  NDUFA9	100.00	1
  NDUFAF4	99.95	1
  NDUFAF6	99.86	1
  NDUFS1	99.79	1
  NDUFS3	100.00	1
  NDUFS7	99.99	1
  NDUFS8	100.00	1
  NHLRC2	99.83	1
  NKX2-1	100.00	1
  NKX6-2	100.00	1
  NPC1	99.99	1
  NPC2	100.00	1
  NTNG2	99.98	1
  NUP62	100.00	1
  PANK2	99.99	1
  PARK7	99.93	1
  PCCA	99.90	1
  PCCB	99.97	1
  PCDH12	100.00	1
  PCDH19	99.98	1
  PDE10A	87.37	1
  PDE8B	99.98	1
  PDGFB	99.99	1
  PDGFRB	99.99	1
  PDHA1	99.04	1
  PDHX	99.64	1
  PEAR1	99.89	1
  PEX16	99.94	1
  PINK1	99.69	1
  PLA2G6	99.98	1
  PLEKHG2	99.99	1
  PLP1	99.98	1
  PMPCB	99.94	1
  PNKD	100.00	1
  PNKP	100.00	1
  PNPLA8	99.92	1
  PNPT1	99.56	1
  PODXL	93.29	1
  POLG	100.00	1
  POLR3A	99.97	1
  PON1	99.70	1
  PRKN	99.99	1
  PRKRA	99.94	1
  PRNP	100.00	1
  PRRT2	99.97	1
  PTRHD1	100.00	1
  PTS	99.93	1
  QDPR	99.92	1
  RAB11B	100.00	1
  RAB39B	99.99	1
  RAD51	90.17	1
  RELN	99.98	1
  REPS1	99.93	1
  RHOBTB2	100.00	1
  RIC3	100.00	1
  RNF216	99.99	1
  SCN11A	99.94	1
  SCN4A	99.98	1
  SCN8A	99.77	1
  SCP2	94.94	1
  SDHA	99.98	1
  SDHAF1	99.99	1
  SDHD	82.93	1
  SEPSECS	99.78	1
  SERAC1	99.90	1
  SETX	99.97	1
  SGCE	93.12	1
  SLC18A2	100.00	1
  SLC19A3	99.95	1
  SLC20A2	99.95	1
  SLC25A42	99.99	1
  SLC2A1	99.93	1
  SLC30A10	99.99	1
  SLC30A9	99.75	1
  SLC39A14	92.87	1
  SLC44A1	99.90	1
  SLC6A3	99.96	1
  SLC6A8	99.99	1
  SMPD1	100.00	1
  SNCA	99.97	1
  SNCAIP	99.99	1
  SPG11	99.89	1
  SPR	99.99	1
  SQSTM1	100.00	1
  STUB1	99.99	1
  SUCLA2	99.96	1
  SUOX	100.00	1
  SURF1	100.00	1
  SYNJ1	99.91	1
  SYT1	99.70	1
  TAF1	99.84	1
  TANGO2	99.85	1
  TBC1D24	100.00	1
  TENM4	99.99	1
  TH	99.99	1
  THAP1	99.96	1
  TIMM8A	100.00	1
  TOR1A	100.00	1
  TPI1	99.95	1
  TPK1	99.96	1
  TRAK1	99.98	1
  TRAPPC11	99.93	1
  TRAPPC12	99.96	1
  TRIT1	99.25	1
  TSEN2	99.98	1
  TSFM	100.00	1
  TUBB4A	100.00	1
  TXN2	99.88	1
  UBA5	99.95	1
  UBTF	99.99	1
  UCHL1	99.99	1
  UFM1	99.25	1
  UGDH	99.77	1
  UQCRQ	99.96	1
  VAC14	99.91	1
  VAMP2	100.00	1
  VCP	99.99	1
  VPS13A	99.68	1
  VPS13C	99.65	1
  VPS13D	99.96	1
  VPS16	100.00	1
  VPS35	99.83	1
  WARS2	97.72	1
  WDR45	99.99	1
  WDR73	99.92	1
  XK	99.98	1
  XPR1	99.13	1
  YY1	100.00	1
  ZC4H2	99.98	1
  ZNF142	100.00	1

• Movement Disorders - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	0
  ABAT	100.00	0
  ACTB	100.00	0
  ACTL6B	100.00	0
  ADAR	100.00	0
  ADCY5	94.82	0
  ADPRS	97.19	0
  AFG3L2	95.73	0
  AGTPBP1	97.48	0
  AIMP1	100.00	0
  ALDH5A1	91.82	0
  ALG13	99.52	0
  ALG6	100.00	0
  ALS2	100.00	0
  AMT	100.00	0
  ANO3	99.99	0
  AOPEP	98.17	0
  AP3D1	100.00	0
  AP4M1	100.00	0
  AP5Z1	100.00	0
  APTX	100.00	0
  ARG1	100.00	0
  ARHGEF9	100.00	0
  ARSA	100.00	0
  ARV1	100.00	0
  ARX	76.27	0
  ASAH1	100.00	0
  ASNS	100.00	0
  ASS1	100.00	0
  ATAD1	100.00	0
  ATCAY	100.00	0
  ATM	100.00	0
  ATN1	100.00	0
  ATP13A2	99.13	0
  ATP1A2	99.91	0
  ATP1A3	100.00	0
  ATP6AP2	98.93	0
  ATP7B	100.00	0
  ATP8A2	100.00	0
  ATXN2	97.08	0
  AUH	98.84	0
  BCAP31	100.00	0
  BCKDHA	100.00	0
  BCKDHB	100.00	0
  BCS1L	100.00	0
  BSCL2	100.00	0
  BTK	100.00	0
  C19ORF12	100.00	0
  C9ORF72	100.00	0
  CA8	100.00	0
  CACNA1A	100.00	0
  CACNA1B	95.99	0
  CACNA1E	99.97	0
  CACNA1G	100.00	0
  CACNB4	100.00	0
  CARS2	95.22	0
  CBS	100.00	0
  CDKL5	99.33	0
  CEP290	99.99	0
  CHCHD2	100.00	0
  CHMP2B	100.00	0
  CHRNA2	99.97	0
  CHRNA4	99.98	0
  CHRNB2	100.00	0
  CIZ1	99.96	0
  CLCN2	100.00	0
  CLCN3	100.00	0
  CLCN6	100.00	0
  CLPB	100.00	0
  CLTC	100.00	0
  CNTNAP1	100.00	0
  COASY	100.00	0
  COL6A3	100.00	0
  COQ8A	100.00	0
  COQ9	100.00	0
  COX10	100.00	0
  COX15	100.00	0
  COX20	100.00	0
  CP	99.98	0
  CRAT	100.00	0
  CRH	100.00	0
  CRLF1	89.13	0
  CSF1R	100.00	0
  CSTB	100.00	0
  CTC1	100.00	0
  CTDP1	90.20	0
  CTNNB1	100.00	0
  CTSA	100.00	0
  CTSD	100.00	0
  CTSF	89.18	0
  CUL4B	98.64	0
  CWF19L1	100.00	0
  CYB5R3	95.77	0
  CYFIP2	100.00	0
  CYP27A1	99.38	0
  DARS1	100.00	0
  DBT	100.00	0
  DCAF17	99.11	0
  DCC	100.00	0
  DCTN1	100.00	0
  DDC	100.00	0
  DEGS1	100.00	0
  DEPDC5	100.00	0
  DHDDS	100.00	0
  DHX30	100.00	0
  DLAT	100.00	0
  DLD	100.00	0
  DMXL2	99.99	0
  DNAJB2	100.00	0
  DNAJC12	100.00	0
  DNAJC13	100.00	0
  DNAJC19	100.00	0
  DNAJC5	100.00	0
  DNAJC6	100.00	0
  DNAL4	100.00	0
  DNM1L	100.00	0
  DNMT1	99.83	0
  EARS2	100.00	0
  ECHS1	100.00	0
  EEF1A2	98.47	0
  ELOVL4	100.00	0
  EPRS1	100.00	0
  ETHE1	100.00	0
  FA2H	92.84	0
  FARS2	100.00	0
  FASTKD2	100.00	0
  FBXL4	100.00	0
  FBXO7	100.00	0
  FGF14	100.00	0
  FITM2	100.00	0
  FOLR1	100.00	0
  FOXG1	87.63	0
  FOXRED1	100.00	0
  FRRS1L	87.33	0
  FTL	100.00	0
  FUCA1	99.67	0
  FUS	100.00	0
  FXN	96.07	0
  GABRA2	100.00	0
  GABRB2	100.00	0
  GALT	100.00	0
  GAMT	98.07	0
  GBA1	100.00	0
  GBE1	100.00	0
  GCDH	100.00	0
  GCH1	98.16	0
  GFAP	100.00	0
  GFM1	100.00	0
  GFM2	99.99	0
  GJC2	88.27	0
  GLB1	100.00	0
  GLDC	97.21	0
  GLRA1	100.00	0
  GLRB	100.00	0
  GM2A	100.00	0
  GNAL	100.00	0
  GNAO1	100.00	0
  GNB1	100.00	0
  GOSR2	100.00	0
  GPHN	100.00	0
  GPR88	77.04	0
  GRID2	100.00	0
  GRIN1	100.00	0
  GRIN2B	100.00	0
  GRN	100.00	0
  GSX2	100.00	0
  GTPBP2	99.48	0
  HECW2	100.00	0
  HEXA	100.00	0
  HEXB	99.87	0
  HIBCH	100.00	0
  HPRT1	97.15	0
  HSD17B10	100.00	0
  HTT	99.18	0
  IFIH1	100.00	0
  IREB2	100.00	0
  IRF2BPL	99.88	0
  IVD	100.00	0
  JAM2	100.00	0
  JPH3	100.00	0
  KCNA1	100.00	0
  KCNA2	100.00	0
  KCNA4	100.00	0
  KCNC3	78.67	0
  KCND3	100.00	0
  KCNMA1	100.00	0
  KCNQ2	100.00	0
  KCNT1	99.92	0
  KCTD17	95.63	0
  KCTD7	99.64	0
  KIF1C	100.00	0
  KIF5A	100.00	0
  KMT2B	96.75	0
  L2HGDH	100.00	0
  LIAS	100.00	0
  LIPT1	100.00	0
  LIPT2	92.08	0
  LMNB1	98.51	0
  LRPPRC	100.00	0
  LRRK2	100.00	0
  LYST	100.00	0
  MAPT	100.00	0
  MARS2	100.00	0
  MCEE	100.00	0
  MCOLN1	98.10	0
  MDH2	100.00	0
  MECP2	100.00	0
  MECR	100.00	0
  MED20	100.00	0
  MEF2C	100.00	0
  MFSD8	100.00	0
  MICU1	100.00	0
  MMAA	100.00	0
  MMAB	100.00	0
  MMADHC	100.00	0
  MMUT	100.00	0
  MPV17	100.00	0
  MRE11	100.00	0
  MRPS34	99.28	0
  MTHFR	100.00	0
  MTR	100.00	0
  MTRFR	100.00	0
  MTRR	100.00	0
  MYBPC1	100.00	0
  MYORG	100.00	0
  NALCN	100.00	0
  NAXD	100.00	0
  NDUFA1	100.00	0
  NDUFA10	99.52	0
  NDUFA12	100.00	0
  NDUFA2	100.00	0
  NDUFA9	100.00	0
  NDUFAF2	100.00	0
  NDUFAF4	100.00	0
  NDUFAF5	100.00	0
  NDUFAF6	95.34	0
  NDUFS1	100.00	0
  NDUFS3	100.00	0
  NDUFS4	100.00	0
  NDUFS7	100.00	0
  NDUFS8	100.00	0
  NDUFV1	100.00	0
  NEU1	100.00	0
  NGLY1	100.00	0
  NHLRC2	100.00	0
  NKX2-1	89.99	0
  NKX6-2	70.62	0
  NPC1	100.00	0
  NPC2	100.00	0
  NTN1	94.10	0
  NTNG2	91.87	0
  NUP62	100.00	0
  MED12	100.00	0
  OPA3	100.00	0
  PAH	100.00	0
  PANK2	95.70	0
  PARK7	100.00	0
  PODXL	96.85	0
  PCBD1	92.74	0
  PCCA	100.00	0
  PCCB	100.00	0
  PCDH12	100.00	0
  PCDH19	100.00	0
  PDE10A	100.00	0
  PDE2A	100.00	0
  PDE8B	97.56	0
  PDGFB	100.00	0
  PDGFRB	100.00	0
  PDHA1	100.00	0
  PDHB	100.00	0
  PDHX	100.00	0
  PDYN	100.00	0
  PEX16	100.00	0
  PGK1	100.00	0
  PIGP	100.00	0
  PINK1	91.10	0
  PLA2G6	100.00	0
  PLEKHG2	100.00	0
  PLP1	100.00	0
  PMM2	100.00	0
  PMPCB	100.00	0
  PNKD	100.00	0
  PNKP	100.00	0
  PNPLA8	100.00	0
  PNPT1	100.00	0
  POLG	100.00	0
  POLR1C	100.00	0
  POLR3A	100.00	0
  PPT1	100.00	0
  PRICKLE1	100.00	0
  PRKCG	100.00	0
  PRKN	100.00	0
  PRKRA	100.00	0
  PRNP	100.00	0
  PRRT2	100.00	0
  PTRHD1	100.00	0
  PTS	100.00	0
  PUM1	100.00	0
  PURA	88.25	0
  QDPR	99.38	0
  RAB11B	100.00	0
  RAB39B	100.00	0
  RAD51	100.00	0
  RELN	100.00	0
  REPS1	100.00	0
  RHOBTB2	100.00	0
  RNF216	100.00	0
  SACS	100.00	0
  SCARB2	100.00	0
  SCN11A	99.99	0
  SCN1A	100.00	0
  SCN2A	100.00	0
  SCN4A	100.00	0
  SCN8A	100.00	0
  SCP2	100.00	0
  SCYL1	100.00	0
  SDHA	98.70	0
  SDHAF1	96.31	0
  SDHD	100.00	0
  SEPSECS	100.00	0
  SERAC1	100.00	0
  SETD5	100.00	0
  SETX	100.00	0
  SGCE	100.00	0
  SLC16A2	100.00	0
  SLC18A2	100.00	0
  SLC19A3	99.96	0
  SLC1A3	100.00	0
  SLC20A2	100.00	0
  SLC25A19	100.00	0
  SLC25A42	99.96	0
  SLC2A1	100.00	0
  SLC30A10	100.00	0
  SLC30A9	100.00	0
  SLC39A14	99.95	0
  SLC39A8	99.72	0
  SLC44A1	97.36	0
  SLC6A1	100.00	0
  SLC6A3	100.00	0
  SLC6A5	100.00	0
  SLC6A8	96.54	0
  SLC9A6	97.84	0
  SMPD1	100.00	0
  SNCA	100.00	0
  SPG11	100.00	0
  SPOP	100.00	0
  SPR	97.94	0
  SPTBN2	100.00	0
  SQSTM1	95.44	0
  SRD5A3	98.74	0
  ST3GAL5	92.43	0
  STUB1	99.46	0
  STXBP1	100.00	0
  SUCLA2	100.00	0
  SUCLG1	99.97	0
  SUMF1	100.00	0
  SUOX	100.00	0
  SURF1	92.90	0
  SYNE1	100.00	0
  SYNJ1	100.00	0
  SYT1	100.00	0
  TACO1	99.96	0
  TAF1	100.00	0
  TANGO2	100.00	0
  TARDBP	100.00	0
  TBC1D24	100.00	0
  TBK1	100.00	0
  TBL1XR1	100.00	0
  TENM4	100.00	0
  TGM6	100.00	0
  TH	100.00	0
  THAP1	100.00	0
  TIMM8A	100.00	0
  TMEM240	100.00	0
  TOR1A	100.00	0
  TPI1	100.00	0
  TPK1	100.00	0
  TRAK1	100.00	0
  TRAPPC11	100.00	0
  TRAPPC12	100.00	0
  TREM2	100.00	0
  TRIT1	100.00	0
  TSC1	100.00	0
  TSC2	100.00	0
  TSEN2	100.00	0
  TSEN54	94.95	0
  TSFM	92.64	0
  TTPA	87.42	0
  TUBB4A	100.00	0
  TXN2	100.00	0
  TYROBP	100.00	0
  UBA5	100.00	0
  UBQLN2	99.91	0
  UBR4	99.78	0
  UBTF	100.00	0
  UFM1	100.00	0
  UGDH	100.00	0
  UNC13A	99.92	0
  UQCRQ	100.00	0
  VAC14	100.00	0
  VAMP1	100.00	0
  VAMP2	100.00	0
  VCP	98.45	0
  VPS13A	100.00	0
  VPS13C	100.00	0
  VPS13D	100.00	0
  VPS16	100.00	0
  VPS35	100.00	0
  VPS41	100.00	0
  VPS4A	100.00	0
  VWA3B	100.00	0
  WARS2	100.00	0
  WDR45	100.00	0
  WDR73	100.00	0
  WDR81	100.00	0
  WWOX	100.00	0
  XK	99.86	0
  XPA	99.77	0
  XPC	100.00	0
  XPR1	100.00	0
  YY1	100.00	0
  ZC4H2	100.00	0
  ZFYVE26	100.00	0
  ZNF142	100.00	0