TLR4

Analyte Export to PDF

Name:	toll like receptor 4
Symbol:	TLR4
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ARMD10 CD284 TLR-4 hToll
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Primary immune deficiencies (gene panel)
• Retinal dystrophy / RETNET (gene panel)

Related Diseases

• Behçet disease

Related Gene Panels

• Primary immune deficiencies - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	100.00	1
  ACP5	100.00	1
  ACTB	100.00	1
  ADA	99.97	1
  ADA2	100.00	1
  ADAM17	99.94	1
  ADAR	99.84	1
  AICDA	99.94	1
  AIRE	99.95	1
  AK2	99.39	1
  ALPI	100.00	1
  AP1S3	100.00	1
  AP3B1	99.89	1
  AP3D1	100.00	1
  APOL1	99.99	1
  ARHGEF1	99.97	1
  ARPC1B	99.92	1
  ATG16L1	99.95	1
  ATG4A	99.86	1
  ATM	99.83	1
  ATP2A2	99.98	1
  ATP6AP1	100.00	1
  B2M	100.00	1
  BACH2	99.99	1
  BCL10	99.74	1
  BCL11B	100.00	1
  BLK	99.98	1
  BLM	99.80	1
  BLNK	99.90	1
  BLOC1S3	100.00	1
  BLOC1S6	99.98	1
  BTK	99.88	1
  C1QA	99.99	1
  C1QB	99.58	1
  C1QC	99.97	1
  C1R	99.99	1
  C1S	99.98	1
  C2	99.99	1
  C2orf69	99.97	1
  C3	100.00	1
  C4A	21.28	1
  C4BPA	99.95	1
  C5	99.92	1
  C6	99.97	1
  C7	99.94	1
  C8A	99.95	1
  C8B	99.37	1
  C8G	99.99	1
  C9	99.89	1
  CARD11	99.97	1
  CARD14	99.99	1
  CARD9	100.00	1
  CARMIL2	99.99	1
  CASP10	99.85	1
  CASP8	99.92	1
  CBL	99.95	1
  CCBE1	99.52	1
  CCDC28B	99.99	1
  CD19	99.98	1
  CD247	99.79	1
  CD27	99.95	1
  CD3D	100.00	1
  CD3E	100.00	1
  CD3G	100.00	1
  CD4	100.00	1
  CD40	100.00	1
  CD40LG	99.88	1
  CD46	99.86	1
  CD55	74.12	1
  CD59	100.00	1
  CD70	99.99	1
  CD79A	99.97	1
  CD79B	99.93	1
  CD81	99.97	1
  CD8A	99.97	1
  CDC42	98.05	1
  CDCA7	99.88	1
  CEBPE	100.00	1
  CFB	99.97	1
  CFD	99.99	1
  CFH	99.12	1
  CFHR1	84.44	1
  CFHR2	90.26	1
  CFHR3	91.62	1
  CFHR4	99.86	1
  CFHR5	99.68	1
  CFI	99.87	1
  CFP	99.96	1
  CFTR	99.45	1
  CHD7	99.99	1
  CIB1	99.92	1
  CIITA	99.99	1
  CLCN7	99.99	1
  CLEC7A	99.98	1
  CLPB	99.97	1
  COL7A1	99.99	1
  COPA	99.61	1
  CORO1A	91.71	1
  CPT2	99.65	1
  CR2	99.97	1
  CREBBP	99.97	1
  CSF2RA	93.86	1
  CSF2RB	100.00	1
  CSF3R	99.97	1
  CTC1	100.00	1
  CTLA4	99.99	1
  CTNNBL1	100.00	1
  CTPS1	98.63	1
  CTSC	99.97	1
  CXCR4	99.98	1
  CYBA	99.96	1
  CYBB	99.87	1
  CYBC1	100.00	1
  DBR1	99.92	1
  DCLRE1B	99.91	1
  DCLRE1C	99.79	1
  RIGI	99.84	1
  DEF6	100.00	1
  DGKE	99.10	1
  DHFR	98.89	1
  DKC1	99.59	1
  DNAJC21	99.67	1
  DNASE1	100.00	1
  DNASE1L3	99.90	1
  DNASE2	100.00	1
  DNMT3B	99.98	1
  DOCK2	100.00	1
  DOCK8	99.86	1
  DOK3	99.95	1
  DTNBP1	99.89	1
  EFL1	99.83	1
  ELANE	100.00	1
  ELF4	99.97	1
  EPG5	99.95	1
  ERBIN	99.69	1
  ERCC6L2	99.94	1
  EXTL3	99.99	1
  F12	99.99	1
  FAAP24	99.95	1
  FADD	99.97	1
  FAS	99.99	1
  FASLG	99.84	1
  FAT4	99.98	1
  FCGR2B	70.97	1
  FCGR3A	99.93	1
  FCGR3B	95.51	1
  FCHO1	99.99	1
  FCN3	99.48	1
  FERMT1	99.90	1
  FERMT3	99.99	1
  FNIP1	99.87	1
  FOXN1	99.97	1
  FOXP3	99.93	1
  FPR1	100.00	1
  G6PC3	99.98	1
  G6PD	99.97	1
  GATA1	99.97	1
  GATA2	99.99	1
  GFI1	99.88	1
  GIMAP5	100.00	1
  GINS1	99.99	1
  GUCY2C	99.90	1
  HAVCR2	99.93	1
  HAX1	100.00	1
  HELLS	99.78	1
  HMOX1	99.95	1
  HPS1	100.00	1
  HPS4	99.98	1
  HPS6	100.00	1
  HTRA2	99.99	1
  HYOU1	99.97	1
  ICOS	99.95	1
  ICOSLG	5.95	1
  IFIH1	99.84	1
  IFNAR1	99.75	1
  IFNAR2	89.62	1
  IFNG	99.50	1
  IFNGR1	99.87	1
  IFNGR2	99.95	1
  IGHM	100.00	1
  IGKC	99.99	1
  IGLL1	100.00	1
  IKBKB	99.93	1
  IKBKG	57.34	1
  IKZF1	99.92	1
  IL10	100.00	1
  IL10RA	99.99	1
  IL10RB	99.99	1
  IL12B	99.98	1
  IL12RB1	94.11	1
  IL12RB2	97.66	1
  IL15RA	99.96	1
  IL17F	99.99	1
  IL17RA	100.00	1
  IL17RC	100.00	1
  IL18	99.85	1
  IL18BP	99.99	1
  IL1RL1	99.76	1
  IL1RN	99.64	1
  IL21	99.95	1
  IL21R	99.70	1
  IL23R	97.64	1
  IL2RA	99.99	1
  IL2RB	100.00	1
  IL2RG	99.86	1
  IL36RN	100.00	1
  IL6R	92.46	1
  IL6ST	99.88	1
  IL7R	99.99	1
  ILRUN	100.00	1
  INO80	99.96	1
  IRAK1	99.98	1
  IRAK4	98.85	1
  IRF2BP2	100.00	1
  IRF3	99.96	1
  IRF4	99.99	1
  IRF7	100.00	1
  IRF8	99.99	1
  IRF9	100.00	1
  ISG15	100.00	1
  ITCH	95.57	1
  ITGB2	100.00	1
  ITK	99.91	1
  ITPKB	99.99	1
  IVNS1ABP	99.24	1
  JAGN1	100.00	1
  JAK1	99.32	1
  JAK3	99.99	1
  KDM6A	99.74	1
  KMT2A	99.97	1
  KMT2D	99.98	1
  KRAS	99.13	1
  LACC1	99.99	1
  LAMTOR2	99.92	1
  LAT	99.85	1
  LCK	99.56	1
  LCP2	99.58	1
  LIG1	99.93	1
  LIG4	100.00	1
  LIPA	99.96	1
  LPIN2	100.00	1
  LRBA	99.76	1
  LRRC8A	100.00	1
  LSM11	100.00	1
  LYST	99.87	1
  MAGT1	99.54	1
  MALT1	99.71	1
  MAN2B1	99.99	1
  MAP1LC3B2	100.00	1
  MAP3K14	99.98	1
  MAPK8	99.64	1
  MASP1	99.99	1
  MASP2	99.95	1
  MBL2	99.93	1
  MCM10	99.99	1
  MCM4	99.96	1
  MEFV	100.00	1
  MOGS	100.00	1
  MPEG1	100.00	1
  MPO	99.97	1
  MRE11	99.93	1
  MRTFA	92.99	1
  MS4A1	99.60	1
  MSH6	99.97	1
  MSN	99.98	1
  MTHFD1	100.00	1
  MVK	99.97	1
  MYD88	99.99	1
  MYO5B	100.00	1
  MYSM1	94.16	1
  NBAS	99.86	1
  NBN	99.93	1
  NCF1	57.22	1
  NCF2	99.85	1
  NCF4	100.00	1
  NCKAP1L	99.77	1
  NCSTN	99.82	1
  NFAT5	99.93	1
  NFE2L2	99.97	1
  NFKB1	99.80	1
  NFKB2	99.98	1
  NFKBIA	99.99	1
  NHEJ1	99.91	1
  NHP2	99.96	1
  NKX2-5	99.75	1
  NLRC4	99.95	1
  NLRP1	95.26	1
  NLRP12	99.99	1
  NLRP3	100.00	1
  NLRP7	99.99	1
  NOD2	99.98	1
  NOP10	99.99	1
  NOS2	96.11	1
  NPC1	99.99	1
  NRAS	99.66	1
  NSMCE3	100.00	1
  OAS1	99.96	1
  ORAI1	99.63	1
  OSTM1	99.56	1
  OTULIN	99.95	1
  PARN	99.75	1
  PAX1	100.00	1
  PCCA	99.90	1
  PCCB	99.97	1
  PEPD	99.98	1
  PGM3	99.94	1
  PIK3CD	99.99	1
  PIK3CG	99.72	1
  PIK3R1	99.86	1
  PLCG2	99.99	1
  PLEKHM1	99.77	1
  PLG	99.89	1
  PMS2	70.47	1
  PNP	100.00	1
  POLA1	99.57	1
  POLD1	99.96	1
  POLD2	99.95	1
  POLE	99.99	1
  POLE2	99.87	1
  POLR3A	99.97	1
  POLR3C	99.89	1
  POLR3F	99.97	1
  NT5C3A	99.95	1
  PRF1	100.00	1
  PRIM1	99.07	1
  PRKCD	99.96	1
  PRKDC	99.93	1
  PSEN1	100.00	1
  PSENEN	100.00	1
  PSMA3	99.96	1
  PSMB10	99.98	1
  PSMB4	99.83	1
  PSMB8	99.96	1
  PSMB9	99.68	1
  PSMG2	99.98	1
  PSTPIP1	99.91	1
  PSTPIP2	99.98	1
  PTEN	99.89	1
  PTPN11	99.98	1
  PTPN2	99.98	1
  PTPN6	100.00	1
  PTPRC	93.90	1
  RAB27A	99.94	1
  RAC2	99.99	1
  RAG1	100.00	1
  RAG2	100.00	1
  RANBP2	99.37	1
  RASGRP1	100.00	1
  RBCK1	100.00	1
  RC3H1	99.22	1
  RECQL4	100.00	1
  REL	96.99	1
  RELA	99.99	1
  RELB	99.97	1
  RFX5	99.88	1
  RFXANK	100.00	1
  RFXAP	99.98	1
  RHOH	99.99	1
  RIPK1	99.93	1
  RMRP	100.00	1
  RNASEH2A	99.95	1
  RNASEH2B	99.94	1
  RNASEH2C	99.99	1
  RNF168	99.97	1
  RNF31	100.00	1
  RORC	99.42	1
  RPSA	0.00	1
  RTEL1	100.00	1
  SAMD9	99.93	1
  SAMD9L	99.95	1
  SAMHD1	99.98	1
  SASH3	99.99	1
  SBDS	99.93	1
  SDHA	99.98	1
  SEC61A1	99.99	1
  SEMA3E	99.13	1
  SERPING1	100.00	1
  SGPL1	99.95	1
  SH2D1A	98.98	1
  SH3BP2	100.00	1
  SH3KBP1	99.95	1
  SKIC2	99.98	1
  SLC11A1	99.99	1
  SLC29A3	99.98	1
  SLC35C1	100.00	1
  SLC37A4	99.90	1
  SLC39A7	100.00	1
  SLC46A1	100.00	1
  SLC7A7	99.99	1
  SLC9A3	100.00	1
  SMARCAL1	99.97	1
  SMARCD2	99.99	1
  SNX10	99.96	1
  SOCS1	99.98	1
  SOCS4	99.92	1
  PMP22	99.99	1
  SPI1	99.81	1
  SPINK5	99.91	1
  SPPL2A	99.88	1
  SRP54	99.83	1
  SRP72	99.91	1
  STAT1	99.83	1
  STAT2	99.89	1
  STAT3	99.97	1
  STAT4	99.77	1
  STAT5B	99.50	1
  STAT6	99.87	1
  STIM1	99.99	1
  STING1	99.87	1
  STK4	99.91	1
  STN1	99.88	1
  STX11	100.00	1
  STXBP2	100.00	1
  STXBP3	85.74	1
  SYK	99.96	1
  TAFAZZIN	99.98	1
  TAP1	99.97	1
  TAP2	99.94	1
  TAPBP	99.98	1
  TBK1	99.07	1
  TBX1	99.95	1
  TBX21	99.99	1
  TCF3	100.00	1
  TCIRG1	99.99	1
  TCN2	100.00	1
  TERC	98.59	1
  TERT	100.00	1
  TET2	99.99	1
  TFRC	99.87	1
  TGFB1	100.00	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  THBD	100.00	1
  TICAM1	99.99	1
  TINF2	100.00	1
  TIRAP	100.00	1
  TLR3	99.99	1
  TLR4	99.99	1
  TLR7	99.98	1
  TMC6	100.00	1
  TMC8	99.92	1
  TNFAIP3	99.94	1
  TNFRSF11A	100.00	1
  TNFRSF13B	99.43	1
  TNFRSF13C	99.99	1
  TNFRSF1A	100.00	1
  TNFRSF4	100.00	1
  TNFRSF9	99.99	1
  TNFSF11	99.89	1
  TNFSF12	100.00	1
  TNFSF13	100.00	1
  TOP2B	99.72	1
  TPP2	99.89	1
  TRAC	100.00	1
  TRAF3	99.97	1
  TRAF3IP2	100.00	1
  TREX1	100.00	1
  TRIM22	100.00	1
  TRNT1	99.97	1
  SKIC3	99.82	1
  TTC7A	99.77	1
  TYK2	99.99	1
  UBA1	99.93	1
  UNC119	100.00	1
  UNC13D	100.00	1
  UNC93B1	99.75	1
  UNG	100.00	1
  USB1	89.62	1
  USP18	93.05	1
  VAV1	99.99	1
  VPS13B	99.90	1
  VPS45	93.94	1
  WAS	99.90	1
  WDR1	99.99	1
  WIPF1	99.87	1
  WRAP53	100.00	1
  XBP1	99.99	1
  XIAP	99.36	1
  ZAP70	99.95	1
  ZBTB24	99.99	1
  ZNF341	100.00	1
  ZNFX1	99.99	1

• Retinal dystrophy - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA4	99.30	1
  ABCC6	98.57	1
  ABHD12	99.98	1
  ACBD5	99.97	1
  ACO2	99.99	1
  ADAM9	99.89	1
  ADAMTS18	99.99	1
  ADGRA3	99.90	1
  ADGRV1	99.80	1
  ADIPOR1	99.83	1
  AFG3L2	99.97	1
  AGBL5	99.98	1
  AHI1	99.86	1
  AHR	99.79	1
  AIPL1	100.00	1
  ALMS1	99.90	1
  ARHGEF18	99.97	1
  ARL2BP	99.89	1
  ARL3	99.98	1
  ARL6	99.90	1
  ARMS2	100.00	1
  ARSG	100.00	1
  ASRGL1	99.84	1
  ATF6	98.19	1
  ATXN7	99.98	1
  BBIP1	99.99	1
  BBS1	100.00	1
  BBS10	99.98	1
  BBS12	100.00	1
  BBS2	99.90	1
  BBS4	99.88	1
  BBS5	99.00	1
  BBS7	99.42	1
  BBS9	99.75	1
  BEST1	99.86	1
  MFRP	100.00	1
  C2	99.99	1
  C3	100.00	1
  CA4	100.00	1
  CABP4	100.00	1
  CACNA1F	99.94	1
  CACNA2D4	99.99	1
  CAPN5	99.88	1
  CC2D2A	99.95	1
  CCT2	98.46	1
  CDH23	99.95	1
  CDH3	99.98	1
  CDHR1	99.72	1
  CEP164	99.99	1
  CEP19	99.99	1
  CEP250	99.93	1
  CEP290	98.10	1
  CEP78	99.95	1
  CERKL	99.91	1
  CFAP410	100.00	1
  CFAP418	100.00	1
  CFB	99.97	1
  CFH	99.12	1
  CHM	96.46	1
  CIB2	100.00	1
  CLCC1	93.17	1
  CLN3	99.92	1
  CLRN1	99.99	1
  CLUAP1	99.95	1
  CNGA1	99.60	1
  CNGA3	99.95	1
  CNGB1	97.53	1
  CNGB3	99.96	1
  CNNM4	99.93	1
  COL11A1	90.72	1
  COL2A1	99.87	1
  COL9A1	99.91	1
  CRB1	99.73	1
  CRX	99.96	1
  CSPP1	98.31	1
  CTNNA1	99.98	1
  CWC27	99.67	1
  CYP4V2	99.98	1
  DHDDS	98.65	1
  DHX38	99.97	1
  DMD	99.76	1
  DRAM2	96.06	1
  DTHD1	99.92	1
  DYNC2H1	99.66	1
  EFEMP1	99.68	1
  ELOVL1	100.00	1
  ELOVL4	99.91	1
  EMC1	99.85	1
  ERCC6	99.60	1
  ESPN	100.00	1
  EXOSC2	100.00	1
  EYS	99.86	1
  FAM161A	99.77	1
  FBLN5	100.00	1
  FBN2	99.90	1
  FLVCR1	99.91	1
  FSCN2	100.00	1
  FZD4	100.00	1
  GDF6	100.00	1
  GNAT1	100.00	1
  GNAT2	99.87	1
  GNB3	100.00	1
  GNPTG	100.00	1
  GPR179	99.99	1
  GRID2	99.97	1
  GRK1	99.99	1
  GRM6	100.00	1
  GUCA1A	100.00	1
  GUCA1B	99.99	1
  GUCY2D	100.00	1
  HARS1	99.96	1
  HGSNAT	99.93	1
  HK1	99.97	1
  HMCN1	99.44	1
  HMX1	100.00	1
  HTRA1	100.00	1
  IDH3A	99.98	1
  IDH3B	100.00	1
  IFT140	100.00	1
  IFT172	99.98	1
  IFT27	100.00	1
  IFT43	99.97	1
  IFT81	94.64	1
  IFT88	98.26	1
  IMPDH1	92.77	1
  IMPG1	99.93	1
  IMPG2	99.97	1
  INPP5E	99.85	1
  INVS	99.94	1
  IQCB1	99.72	1
  ITM2B	99.85	1
  JAG1	100.00	1
  KCNJ13	99.99	1
  KCNV2	99.97	1
  KIAA1549	99.98	1
  KIF11	99.84	1
  KIF3B	99.99	1
  KIZ	99.98	1
  KLHL7	99.95	1
  LAMA1	99.98	1
  LAMB2	99.99	1
  LCA5	99.89	1
  LRAT	100.00	1
  LRIT3	100.00	1
  LRP5	99.95	1
  LZTFL1	100.00	1
  MAK	99.47	1
  MAPKAPK3	99.97	1
  MERTK	98.90	1
  MFN2	99.98	1
  MFSD8	99.70	1
  MIR204	100.00	1
  MKKS	100.00	1
  MKS1	99.92	1
  MTRFR	99.87	1
  MTTP	99.92	1
  MVK	99.97	1
  MYO7A	99.96	1
  NBAS	99.86	1
  NDP	99.98	1
  NEK2	95.09	1
  NEUROD1	100.00	1
  NMNAT1	99.93	1
  NPHP1	99.05	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NR2E3	100.00	1
  NR2F1	99.99	1
  NRL	100.00	1
  NYX	100.00	1
  OAT	90.17	1
  OFD1	99.68	1
  MED12	99.95	1
  OPA3	100.00	1
  OPN1LW	71.75	1
  OPN1MW	30.23	1
  OPN1SW	99.97	1
  OTX2	100.00	1
  PANK2	99.99	1
  PAX2	99.99	1
  PCARE	100.00	1
  PCDH15	99.71	1
  PCYT1A	100.00	1
  PDE6A	99.98	1
  PDE6B	100.00	1
  PDE6C	99.91	1
  PDE6G	100.00	1
  PDE6H	99.97	1
  PDZD7	98.09	1
  PEX1	98.80	1
  PEX2	100.00	1
  PEX6	99.99	1
  PEX7	99.72	1
  PGK1	99.93	1
  PHYH	100.00	1
  PITPNM3	99.98	1
  PLA2G5	99.91	1
  PLK4	99.89	1
  PNPLA6	99.99	1
  POC1B	100.00	1
  POC5	99.85	1
  POMGNT1	99.69	1
  PRCD	100.00	1
  PRDM13	99.99	1
  PROM1	99.97	1
  PRPF3	99.73	1
  PRPF31	99.99	1
  PRPF4	99.96	1
  PRPF6	99.98	1
  PRPF8	99.98	1
  PRPH2	99.98	1
  PRPS1	99.95	1
  RAB28	99.97	1
  RAX2	100.00	1
  RB1	99.84	1
  RBP3	99.99	1
  RBP4	99.99	1
  RCBTB1	99.99	1
  RD3	100.00	1
  RDH11	99.99	1
  RDH12	99.98	1
  RDH5	100.00	1
  REEP6	100.00	1
  RGR	99.79	1
  RGS9BP	100.00	1
  RHO	100.00	1
  RIMS1	99.85	1
  RIMS2	99.97	1
  RLBP1	99.99	1
  ROM1	100.00	1
  MAPRE2	99.98	1
  RP1L1	100.00	1
  RP2	99.58	1
  RP9	99.83	1
  RPE65	98.99	1
  RPGR	94.45	1
  RPGRIP1	99.95	1
  RPGRIP1L	96.35	1
  RS1	99.92	1
  RTN4IP1	99.98	1
  SAG	99.98	1
  SAMD11	100.00	1
  SAMD7	99.99	1
  SCAPER	99.75	1
  SCLT1	95.17	1
  SDCCAG8	100.00	1
  SEMA4A	99.81	1
  SF3B2	99.98	1
  SLC24A1	99.92	1
  SLC25A46	99.88	1
  SLC6A6	99.98	1
  SLC7A14	99.99	1
  SNRNP200	99.60	1
  SPATA7	99.80	1
  GPKOW	100.00	1
  TEAD1	99.97	1
  TIMM8A	100.00	1
  TIMP3	100.00	1
  TLR3	99.99	1
  TLR4	99.99	1
  TMEM126A	99.88	1
  TMEM216	99.98	1
  TMEM237	99.30	1
  TOPORS	99.99	1
  TREX1	100.00	1
  TRIM32	100.00	1
  TRNT1	99.97	1
  TRPM1	99.96	1
  TSPAN12	99.89	1
  TTC8	99.67	1
  TTLL5	99.95	1
  TTPA	99.88	1
  TUB	100.00	1
  TUBGCP4	99.80	1
  TUBGCP6	100.00	1
  TULP1	99.99	1
  UNC119	100.00	1
  USH1C	99.99	1
  USH1G	100.00	1
  USH2A	99.88	1
  VCAN	99.99	1
  WDPCP	99.87	1
  WDR19	99.80	1
  WFS1	99.99	1
  WHRN	99.96	1
  ZNF408	99.99	1
  ZNF423	98.94	1
  ZNF513	99.97	1