UBA2

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Name:	ubiquitin like modifier activating enzyme 2
Symbol:	UBA2
Version of Orphanet:	2023-06-22 14:14:43
XREF(s):	Orphanet OMIM SwissProt Ensembl HGNC
Created:	26 Oct 2023 - 23:41
Changed:	26 Oct 2023 - 23:49

Related Genetic Tests

• Skeletal dysplasia (gene panel)

Related Diseases

• Aplasia cutis congenita

Related Gene Panels

• Skeletal dysplasia (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ALPL	100.00	1
  ALX3	100.00	1
  ARID1A	99.99	1
  B3GALT6	92.42	1
  CDC73	99.98	1
  COL11A1	99.99	1
  COL9A2	100.00	1
  CTSK	100.00	1
  DDR2	100.00	1
  DHCR24	100.00	1
  DVL1	100.00	1
  FAM20B	100.00	1
  FUCA1	100.00	1
  GNAI3	99.99	1
  GNPAT	99.96	1
  GORAB	99.99	1
  HHAT	100.00	1
  HS2ST1	99.93	1
  HSPG2	99.99	1
  IARS2	100.00	1
  LBR	99.99	1
  LMNA	100.00	1
  NLRP3	100.00	1
  NMNAT1	95.03	1
  NOTCH2	100.00	1
  NRAS	99.97	1
  ORC1	100.00	1
  P3H1	100.00	1
  PHGDH	100.00	1
  PIGV	100.00	1
  PLOD1	100.00	1
  POLR3GL	100.00	1
  PRKACB	100.00	1
  PRRX1	100.00	1
  RBM8A	100.00	1
  SDCCAG8	99.99	1
  SF3B4	100.00	1
  SKI	100.00	1
  SLC25A24	99.30	1
  SLC35D1	99.68	1
  TBCE	100.00	1
  TBX15	100.00	1
  TGFB2	100.00	1
  TMCO1	99.91	1
  TMEM53	100.00	1
  ZMPSTE24	99.99	1
  CHST3	100.00	1
  DNA2	99.99	1
  FBXW4	98.98	1
  FGFR2	100.00	1
  KAT6B	100.00	1
  KIF5B	99.93	1
  PAPSS2	99.93	1
  POLR3A	100.00	1
  SLC29A3	100.00	1
  SMC3	99.98	1
  TCTN3	100.00	1
  ALG9	94.06	1
  ALX4	100.00	1
  ANO5	100.00	1
  ARCN1	100.00	1
  B3GAT3	94.88	1
  BANF1	100.00	1
  BBS1	100.00	1
  C2CD3	99.99	1
  CDKN1C	100.00	1
  CREB3L1	100.00	1
  CYP2R1	98.84	1
  DPAGT1	100.00	1
  DYNC2H1	99.84	1
  EED	100.00	1
  EXT2	100.00	1
  FAM111A	100.00	1
  FAR1	99.98	1
  FERMT3	100.00	1
  HRAS	100.00	1
  IFITM5	100.00	1
  INPPL1	99.93	1
  LRP4	100.00	1
  LRP5	100.00	1
  LTBP3	100.00	1
  MMP13	99.99	1
  NADSYN1	100.00	1
  PIK3C2A	99.99	1
  PLCB3	100.00	1
  RASGRP2	100.00	1
  SERPINH1	100.00	1
  SLC39A13	100.00	1
  TCIRG1	100.00	1
  TMEM138	100.00	1
  TMEM216	100.00	1
  ABCC9	99.99	1
  ALX1	100.00	1
  ATP6V0A2	100.00	1
  BBS10	100.00	1
  CEP290	99.84	1
  CHST11	100.00	1
  COL2A1	100.00	1
  CYP27B1	100.00	1
  FGF23	100.00	1
  GDF3	100.00	1
  GNPTAB	100.00	1
  GNS	100.00	1
  IFT81	94.63	1
  LEMD3	100.00	1
  MAPKAPK5	100.00	1
  MGP	100.00	1
  PDE3A	100.00	1
  PEX5	100.00	1
  POLE	100.00	1
  POLR3B	99.98	1
  PTHLH	100.00	1
  PTPN11	99.98	1
  RFLNA	99.50	1
  SP7	100.00	1
  TBX3	100.00	1
  TBX5	100.00	1
  TCTN1	94.52	1
  TCTN2	99.95	1
  TRPV4	100.00	1
  VDR	99.44	1
  VPS33A	95.74	1
  WNT1	100.00	1
  WNT10B	100.00	1
  FGF9	99.98	1
  GPC6	100.00	1
  KL	98.69	1
  POLR1D	99.94	1
  TGDS	99.99	1
  TNFSF11	100.00	1
  AKT1	100.00	1
  GNPNAT1	99.99	1
  GSC	100.00	1
  IFT43	100.00	1
  KIAA0586	95.70	1
  LTBP2	100.00	1
  MMP14	100.00	1
  SEC23A	99.98	1
  SIX1	100.00	1
  SMOC1	100.00	1
  SRP54	99.97	1
  TGFB3	100.00	1
  LYSET	100.00	1
  TRIP11	99.98	1
  TTC8	99.96	1
  ACAN	98.67	1
  ADAMTS17	98.97	1
  BBS4	100.00	1
  CEP152	99.99	1
  CHST14	99.49	1
  CHSY1	99.98	1
  DLL4	100.00	1
  EFL1	100.00	1
  FBN1	100.00	1
  FMN1	100.00	1
  GREM1	100.00	1
  IDH2	99.93	1
  KIF7	99.98	1
  LRRK1	100.00	1
  MAP2K1	100.00	1
  MESD	100.00	1
  MESP2	100.00	1
  PPIB	100.00	1
  SMAD3	100.00	1
  SMAD6	100.00	1
  TCF12	100.00	1
  ANKRD11	100.00	1
  BBS2	100.00	1
  CBFB	100.00	1
  CDH3	100.00	1
  CDK10	100.00	1
  CDT1	99.07	1
  CLCN7	99.78	1
  COG4	100.00	1
  CREBBP	100.00	1
  DHODH	100.00	1
  GALNS	100.00	1
  GINS2	100.00	1
  GNPTG	99.45	1
  IFT140	100.00	1
  KIF22	100.00	1
  MBTPS1	100.00	1
  MMP2	100.00	1
  ORC6	99.99	1
  PAM16	100.00	1
  PRMT7	99.99	1
  RPGRIP1L	98.82	1
  RPL13	100.00	1
  RSPRY1	100.00	1
  SALL1	100.00	1
  TBC1D24	100.00	1
  TBX6	100.00	1
  TMEM231	100.00	1
  TRAF7	100.00	1
  VAC14	100.00	1
  XYLT1	98.81	1
  ACTG1	100.00	1
  BHLHA9	99.55	1
  CANT1	99.97	1
  CDC6	100.00	1
  COG1	100.00	1
  COL1A1	100.00	1
  DLX3	100.00	1
  EFTUD2	100.00	1
  EIF4A3	99.99	1
  FKBP10	100.00	1
  FZD2	100.00	1
  HES7	100.00	1
  KCNJ2	100.00	1
  KIAA0753	100.00	1
  MEOX1	100.00	1
  MKS1	100.00	1
  MYH3	100.00	1
  NAGLU	99.96	1
  NF1	99.98	1
  NOG	100.00	1
  NXN	100.00	1
  P4HB	100.00	1
  PLEKHM1	100.00	1
  PRKAR1A	100.00	1
  PYCR1	100.00	1
  SERPINF1	100.00	1
  SGSH	100.00	1
  SMARCE1	99.97	1
  SOST	100.00	1
  SOX9	100.00	1
  SUZ12	99.97	1
  TBX4	99.45	1
  WNT3	100.00	1
  XYLT2	100.00	1
  DYM	99.99	1
  LPIN2	99.99	1
  RBBP8	99.96	1
  SMAD2	100.00	1
  SMAD4	100.00	1
  SMCHD1	99.97	1
  TNFRSF11A	97.91	1
  ACP5	100.00	1
  ADAMTS10	100.00	1
  AKT2	100.00	1
  APC2	99.99	1
  B9D2	100.00	1
  CCDC8	100.00	1
  COMP	100.00	1
  DLL3	99.85	1
  DOCK6	100.00	1
  EPS15L1	100.00	1
  ERF	100.00	1
  FUZ	100.00	1
  GPX4	96.50	1
  LONP1	100.00	1
  MAN2B1	100.00	1
  MEGF8	99.96	1
  NFIX	99.97	1
  PRKACA	100.00	1
  SMARCA4	100.00	1
  TGFB1	100.00	1
  TYROBP	100.00	1
  UBA2	99.97	1
  ACVR1	100.00	1
  AFF3	100.00	1
  AGPS	99.76	1
  ANAPC1	99.82	1
  ARHGAP25	100.00	1
  BBS5	99.97	1
  CKAP2L	100.00	1
  COLEC11	100.00	1
  CRIPT	100.00	1
  CYP26B1	100.00	1
  DNMT3A	100.00	1
  DYNC2LI1	100.00	1
  EIF2AK3	99.96	1
  EN1	100.00	1
  EXOC6B	99.77	1
  FN1	100.00	1
  FOSL2	100.00	1
  GALNT3	99.99	1
  GLI2	100.00	1
  HAAO	100.00	1
  HDAC4	100.00	1
  HOXD13	100.00	1
  IDH1	100.00	1
  IFIH1	99.99	1
  IFT172	100.00	1
  IHH	100.00	1
  IL1RN	100.00	1
  KYNU	99.99	1
  LTBP1	100.00	1
  MAP3K20	100.00	1
  MATN3	99.95	1
  MTX2	99.95	1
  MYCN	99.97	1
  NBAS	100.00	1
  NPPC	100.00	1
  OBSL1	99.99	1
  ORC4	100.00	1
  PAX3	100.00	1
  PKDCC	99.76	1
  POLR1A	100.00	1
  POLR1B	100.00	1
  SIX2	100.00	1
  SMARCAL1	100.00	1
  TMEM237	99.98	1
  TRAF3IP1	100.00	1
  TTC21B	99.97	1
  WDPCP	91.91	1
  WDR35	99.99	1
  WNT6	100.00	1
  ASXL1	100.00	1
  BMP2	99.98	1
  COL9A3	100.00	1
  CTSA	100.00	1
  DDRGK1	100.00	1
  DPM1	97.07	1
  ELMO2	100.00	1
  GDF5	100.00	1
  GNAS	100.00	1
  GZF1	100.00	1
  IFT52	100.00	1
  LAMA5	99.87	1
  MAFB	100.00	1
  MKKS	99.98	1
  MMP9	100.00	1
  PLCB4	100.00	1
  SALL4	100.00	1
  SNRPB	100.00	1
  CFAP410	100.00	1
  DONSON	99.81	1
  PCNT	100.00	1
  ALG12	100.00	1
  CCDC134	100.00	1
  CDC45	100.00	1
  EP300	100.00	1
  FBLN1	99.89	1
  MCM5	100.00	1
  MYO18B	100.00	1
  PISD	100.00	1
  SMARCB1	100.00	1
  SPECC1L	100.00	1
  ALG3	100.00	1
  ARHGAP31	100.00	1
  ARL6	100.00	1
  ATR	99.98	1
  CASR	100.00	1
  COPB2	100.00	1
  CRTAP	99.90	1
  DVL3	100.00	1
  DYNLT2B	100.00	1
  EOGT	99.99	1
  FLNB	100.00	1
  GLB1	100.00	1
  HYAL1	100.00	1
  IFT122	100.00	1
  IFT80	99.94	1
  LMOD3	100.00	1
  MASP1	100.00	1
  MECOM	100.00	1
  NEPRO	99.99	1
  PCYT1A	100.00	1
  PIK3CA	99.97	1
  PLOD2	99.95	1
  POC1A	100.00	1
  PTH1R	100.00	1
  SETD2	99.99	1
  SLCO2A1	100.00	1
  SUMF1	100.00	1
  TGFBR2	100.00	1
  THPO	100.00	1
  TOP2B	99.85	1
  TP63	99.99	1
  TRAIP	100.00	1
  WNT5A	100.00	1
  WNT7A	100.00	1
  ZIC1	100.00	1
  AGA	100.00	1
  ANTXR2	100.00	1
  BBS12	100.00	1
  BBS7	99.97	1
  BMPR1B	100.00	1
  CC2D2A	98.21	1
  CENPE	99.92	1
  DMP1	100.00	1
  DSPP	100.00	1
  EDNRA	100.00	1
  EVC	96.08	1
  EVC2	100.00	1
  FGFR3	100.00	1
  HPGD	99.99	1
  IDUA	99.84	1
  INTU	100.00	1
  MAB21L2	100.00	1
  MANBA	99.99	1
  NEK1	99.99	1
  NKX3-2	100.00	1
  PRKG2	99.98	1
  RAB33B	100.00	1
  RBPJ	100.00	1
  SEC24D	100.00	1
  SGMS2	100.00	1
  SH3BP2	98.03	1
  SLC10A7	100.00	1
  TAPT1	98.76	1
  TMEM165	99.97	1
  UFSP2	99.99	1
  WDR19	99.94	1
  ANKH	100.00	1
  ARSB	99.92	1
  ARSK	99.98	1
  B4GALT7	99.95	1
  BNIP1	100.00	1
  CEP120	99.96	1
  CPLANE1	99.97	1
  CSF1R	100.00	1
  DNAJC21	100.00	1
  FBN2	99.99	1
  FGF10	100.00	1
  HSPA9	100.00	1
  IL6ST	99.99	1
  KIAA0825	99.99	1
  LIFR	99.94	1
  MSX2	100.00	1
  NIPBL	99.91	1
  NPR3	100.00	1
  NSD1	100.00	1
  PDE4D	99.99	1
  PDGFRB	100.00	1
  PITX1	100.00	1
  SH3PXD2B	100.00	1
  SLC26A2	100.00	1
  SPARC	100.00	1
  SQSTM1	100.00	1
  TCOF1	100.00	1
  XRCC4	100.00	1
  ZSWIM6	97.48	1
  ARID1B	99.51	1
  CCN6	100.00	1
  CILK1	99.92	1
  COL10A1	100.00	1
  COL11A2	100.00	1
  COL9A1	99.99	1
  CUL7	100.00	1
  DSE	99.66	1
  EDN1	100.00	1
  ENPP1	99.27	1
  FIG4	100.00	1
  FOXC1	99.89	1
  GCM2	100.00	1
  GJA1	100.00	1
  GMNN	99.99	1
  ID4	97.95	1
  MAP3K7	100.00	1
  MCM3	100.00	1
  NEU1	100.00	1
  OSTM1	99.96	1
  PEX7	100.00	1
  PGM3	100.00	1
  POLR1C	97.57	1
  RAB23	100.00	1
  RIPPLY2	99.85	1
  RUNX2	100.00	1
  SCUBE3	100.00	1
  SLC17A5	99.99	1
  SLC35B2	100.00	1
  TAB2	100.00	1
  TENT5A	100.00	1
  TFAP2B	100.00	1
  TREM2	100.00	1
  ACTB	100.00	1
  BBS9	99.96	1
  BMPER	100.00	1
  COL1A2	100.00	1
  CYP3A4	99.94	1
  DLX5	100.00	1
  DLX6	100.00	1
  DYNC2I1	96.68	1
  EZH2	99.98	1
  FAM20C	99.99	1
  FKBP14	99.95	1
  GLI3	100.00	1
  GUSB	100.00	1
  HOXA11	100.00	1
  HOXA13	96.84	1
  KDELR2	100.00	1
  LFNG	94.20	1
  LMBR1	99.96	1
  MCM7	100.00	1
  MET	100.00	1
  MNX1	87.84	1
  POR	100.00	1
  RINT1	99.95	1
  SBDS	100.00	1
  SFRP4	100.00	1
  SHH	100.00	1
  SLC4A2	100.00	1
  SMO	99.99	1
  SNX10	99.97	1
  TBXAS1	99.99	1
  TRPV6	99.41	1
  TWIST1	100.00	1
  ASAH1	99.99	1
  BMP1	100.00	1
  BPNT2	100.00	1
  CA2	100.00	1
  COLEC10	100.00	1
  CSGALNACT1	100.00	1
  CSPP1	99.99	1
  ESCO2	99.74	1
  EXT1	100.00	1
  EXTL3	100.00	1
  FGFR1	100.00	1
  GDF6	99.99	1
  HGSNAT	96.79	1
  NSMCE2	100.00	1
  POP1	100.00	1
  PTDSS1	100.00	1
  RAD21	100.00	1
  RECQL4	99.80	1
  RSPO2	100.00	1
  SLCO5A1	100.00	1
  SULF1	100.00	1
  TMEM67	99.30	1
  TNFRSF11B	100.00	1
  TONSL	100.00	1
  TRPS1	100.00	1
  ABL1	100.00	1
  ADAMTSL2	100.00	1
  COL27A1	100.00	1
  RIGI	99.97	1
  DYNC2I2	100.00	1
  HNRNPK	100.00	1
  IL11RA	100.00	1
  LMX1B	100.00	1
  MTAP	100.00	1
  NANS	100.00	1
  NOTCH1	100.00	1
  NPR2	100.00	1
  ROR2	99.98	1
  SLC34A3	100.00	1
  TGFBR1	100.00	1
  TMEM38B	100.00	1
  TRIM32	100.00	1
  VCP	100.00	1
  ZNF462	100.00	1
  AIFM1	100.00	1
  AMER1	100.00	1
  ARSL	100.00	1
  ATP7A	100.00	1
  BGN	100.00	1
  CCNQ	99.81	1
  CLCN5	100.00	1
  EBP	100.00	1
  EFNB1	100.00	1
  FANCB	100.00	1
  FGD1	100.00	1
  FGF16	100.00	1
  FLNA	100.00	1
  GPC3	100.00	1
  GPC4	100.00	1
  HDAC8	100.00	1
  IDS	100.00	1
  IKBKG	100.00	1
  MBTPS2	100.00	1
  MID1	100.00	1
  NSDHL	100.00	1
  OFD1	100.00	1
  PHEX	99.99	1
  PLS3	100.00	1
  PORCN	100.00	1
  SHOX	94.83	1
  SMC1A	100.00	1
  SMS	100.00	1
  TRAPPC2	100.00	1
  ZIC3	100.00	1