CIITA (class II major histocompatibility complex transactivator)

Gene

• Entrez ID: 4261
• Gene name: Class II major histocompatibility complex transactivator
• Gene symbol: CIITA
• Synonyms: C2TA, CIITAIV, MHC2D1, MHC2TA, NLRA
• Chromosome: 16
• Chromosome location: 16p13.13
• Summary: This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852602	G>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs372826934	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs567218474	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs771073292	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs778982759	->C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs863223293	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs901844850	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, intron variant
rs1064794659	C>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1555507411	CTGGGCCCTGTCTCAGGCCCCCAGGCTTTCCCCAAACTGGTGCGGATCCTCACGGCCTTTTCCTCCCTGCAGCATCTGGAG>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1596616722	->T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019135	hsa-miR-335-5p	Microarray	18185580
MIRT681456	hsa-miR-6753-5p	HITS-CLIP	23706177
MIRT681455	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT681454	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT681453	hsa-miR-1321	HITS-CLIP	23706177
MIRT681452	hsa-miR-4739	HITS-CLIP	23706177
MIRT681451	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT681450	hsa-miR-3174	HITS-CLIP	23706177
MIRT681449	hsa-miR-4257	HITS-CLIP	23706177
MIRT681448	hsa-miR-4270	HITS-CLIP	23706177
MIRT681447	hsa-miR-4441	HITS-CLIP	23706177
MIRT681446	hsa-miR-6754-5p	HITS-CLIP	23706177
MIRT681445	hsa-miR-7113-5p	HITS-CLIP	23706177
MIRT681444	hsa-miR-1827	HITS-CLIP	23706177
MIRT681443	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681442	hsa-miR-6086	HITS-CLIP	23706177
MIRT681441	hsa-miR-219a-1-3p	HITS-CLIP	23706177
MIRT681440	hsa-miR-571	HITS-CLIP	23706177
MIRT681439	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT681438	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681437	hsa-miR-3612	HITS-CLIP	23706177
MIRT681436	hsa-miR-650	HITS-CLIP	23706177
MIRT681435	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681434	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT681456	hsa-miR-6753-5p	HITS-CLIP	23706177
MIRT681455	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT681454	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT681453	hsa-miR-1321	HITS-CLIP	23706177
MIRT681452	hsa-miR-4739	HITS-CLIP	23706177
MIRT681451	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT681450	hsa-miR-3174	HITS-CLIP	23706177
MIRT681449	hsa-miR-4257	HITS-CLIP	23706177
MIRT681448	hsa-miR-4270	HITS-CLIP	23706177
MIRT681447	hsa-miR-4441	HITS-CLIP	23706177
MIRT681446	hsa-miR-6754-5p	HITS-CLIP	23706177
MIRT681445	hsa-miR-7113-5p	HITS-CLIP	23706177
MIRT681444	hsa-miR-1827	HITS-CLIP	23706177
MIRT681443	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681442	hsa-miR-6086	HITS-CLIP	23706177
MIRT681441	hsa-miR-219a-1-3p	HITS-CLIP	23706177
MIRT681440	hsa-miR-571	HITS-CLIP	23706177
MIRT681439	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT681438	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681437	hsa-miR-3612	HITS-CLIP	23706177
MIRT681436	hsa-miR-650	HITS-CLIP	23706177
MIRT681435	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681434	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT893499	hsa-miR-127-5p	CLIP-seq
MIRT893500	hsa-miR-1285	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893502	hsa-miR-142-3p	CLIP-seq
MIRT893503	hsa-miR-194	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893505	hsa-miR-2114	CLIP-seq
MIRT893506	hsa-miR-298	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT893509	hsa-miR-3176	CLIP-seq
MIRT893510	hsa-miR-3187-5p	CLIP-seq
MIRT893511	hsa-miR-3194-5p	CLIP-seq
MIRT893512	hsa-miR-3606	CLIP-seq
MIRT893513	hsa-miR-3646	CLIP-seq
MIRT893514	hsa-miR-3664-5p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893518	hsa-miR-371-5p	CLIP-seq
MIRT893519	hsa-miR-374a	CLIP-seq
MIRT893520	hsa-miR-374b	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT893522	hsa-miR-3922-3p	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT893525	hsa-miR-4469	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT893528	hsa-miR-4522	CLIP-seq
MIRT893529	hsa-miR-4680-5p	CLIP-seq
MIRT893530	hsa-miR-4709-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT893532	hsa-miR-4729	CLIP-seq
MIRT893533	hsa-miR-483-3p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT893535	hsa-miR-541	CLIP-seq
MIRT893536	hsa-miR-550a	CLIP-seq
MIRT893537	hsa-miR-612	CLIP-seq
MIRT893538	hsa-miR-642a	CLIP-seq
MIRT893539	hsa-miR-654-5p	CLIP-seq
MIRT893540	hsa-miR-661	CLIP-seq
MIRT893541	hsa-miR-668	CLIP-seq
MIRT893542	hsa-miR-888	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893505	hsa-miR-2114	CLIP-seq
MIRT893506	hsa-miR-298	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964883	hsa-miR-335	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964895	hsa-miR-658	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT2200862	hsa-miR-24	CLIP-seq
MIRT2200863	hsa-miR-3119	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT2200864	hsa-miR-3187-3p	CLIP-seq
MIRT1964883	hsa-miR-335	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT2200865	hsa-miR-4284	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT2200866	hsa-miR-4435	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT2200867	hsa-miR-4701-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT2200868	hsa-miR-588	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964883	hsa-miR-335	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893515	hsa-miR-3672	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893513	hsa-miR-3646	CLIP-seq
MIRT2503722	hsa-miR-3662	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT2503723	hsa-miR-548c-3p	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq
MIRT1964881	hsa-miR-10a	CLIP-seq
MIRT1964882	hsa-miR-10b	CLIP-seq
MIRT893501	hsa-miR-1293	CLIP-seq
MIRT893504	hsa-miR-2054	CLIP-seq
MIRT893507	hsa-miR-3122	CLIP-seq
MIRT893508	hsa-miR-3165	CLIP-seq
MIRT1964884	hsa-miR-339-5p	CLIP-seq
MIRT1964885	hsa-miR-3622a-3p	CLIP-seq
MIRT1964886	hsa-miR-3622b-3p	CLIP-seq
MIRT893513	hsa-miR-3646	CLIP-seq
MIRT2503722	hsa-miR-3662	CLIP-seq
MIRT893516	hsa-miR-3689a-3p	CLIP-seq
MIRT893517	hsa-miR-3689c	CLIP-seq
MIRT893521	hsa-miR-3913-5p	CLIP-seq
MIRT1964887	hsa-miR-3926	CLIP-seq
MIRT893523	hsa-miR-3929	CLIP-seq
MIRT893524	hsa-miR-4419b	CLIP-seq
MIRT1964888	hsa-miR-4421	CLIP-seq
MIRT1964889	hsa-miR-4470	CLIP-seq
MIRT893526	hsa-miR-4478	CLIP-seq
MIRT893527	hsa-miR-4483	CLIP-seq
MIRT1964890	hsa-miR-4684-5p	CLIP-seq
MIRT893531	hsa-miR-4728-5p	CLIP-seq
MIRT1964891	hsa-miR-4786-5p	CLIP-seq
MIRT893534	hsa-miR-485-5p	CLIP-seq
MIRT1964892	hsa-miR-544b	CLIP-seq
MIRT2503723	hsa-miR-548c-3p	CLIP-seq
MIRT1964893	hsa-miR-548s	CLIP-seq
MIRT1964894	hsa-miR-593	CLIP-seq
MIRT1964896	hsa-miR-769-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Repression	17911618;21266852
IRF1	Activation	10557076;11464288
IRF1	Unknown	10202014;9916712
IRF2	Activation	10557076;10956389
MYCN	Repression	12107114
PPARG	Activation	19358337
PPARG	Repression	11861426;17611194
PRDM1	Repression	16765445;16982896;17300840
RFX1	Unknown	1505960
STAT1	Activation	11397960;11464288;12847226;9491997
STAT1	Unknown	10202014;15247301;9551976
USF1	Activation	9491997
USF1	Unknown	10202014

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19041327
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	19041327
GO:0003677	Function	DNA binding	TAS	15771576
GO:0003713	Function	Transcription coactivator activity	TAS	7749984
GO:0005515	Function	Protein binding	IPI	16600381, 17493635, 21890893, 23007646
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006955	Process	Immune response	TAS	8402893
GO:0008022	Function	Protein C-terminus binding	IPI	16600381
GO:0016605	Component	PML body	IDA	23007646
GO:0016746	Function	Transferase activity, transferring acyl groups	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IC	19041327
GO:0033613	Function	Activating transcription factor binding	IBA	21873635
GO:0033613	Function	Activating transcription factor binding	IPI	9171108
GO:0034341	Process	Response to interferon-gamma	IDA	19041327, 32855215
GO:0044877	Function	Protein-containing complex binding	IDA	17493635
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IBA	21873635
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IDA	20639463
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IBA	21873635
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IC	9171108
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	19041327
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	19041327
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20639463, 32855215
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	9171108
GO:0046597	Process	Negative regulation of viral entry into host cell	IDA	32855215
GO:0046677	Process	Response to antibiotic	IDA	107465
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 600005
• HGNC: 7067
• e!Ensembl: ENSG00000179583

Protein

• UniProt ID: P33076
• Protein name: MHC class II transactivator (CIITA) (EC 2.3.1.-) (EC 2.7.11.1)
• Protein function: Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter (PubMed:16600381, PubMed:17493635, PubMed:7749984, PubMed:8402893). Does not bind DNA (PubMed:16600381, PubMed:17493635, PubMed:7749984,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05729	NACHT	414 → 585	NACHT domain	Domain
  PF13516	LRR_6	984 → 1008	Leucine Rich repeat	Repeat
  PF13516	LRR_6	1013 → 1036	Leucine Rich repeat	Repeat

• Sequence:

  MRCLAPRPAGSYLSEPQGSSQCATMELGPLEGGYLELLNSDADPLCLYHFYDQMDLAGEE
  EIELYSEPDTDTINCDQFSRLLCDMEGDEETREAYANIAELDQYVFQDSQLEGLSKDIFK
  HIGPDEVIGESMEMPAEVGQKSQKRPFPEELPADLKHWKPAEPPTVVTGSLLVRPVSDCS
  TLPCLPLPALFNQEPASGQMRLEKTDQIPMPFSSSSLSCLNLPEGPIQFVPTISTLPHGL
  WQISEAGTGVSSIFIYHGEVPQASQVPPPSGFTVHGLPTSPDRPGSTSPFAPSATDLPSM
  PEPALTSRANMTEHKTSPTQCPAAGEVSNKLPKWPEPVEQFYRSLQDTYGAEPAGPDGIL
  VEVDLVQARLERSSSKSLERELATPDWAERQLAQGGLAEVLLAAKEHRRPRETRVIAVLG
  KAGQGKSYWAGAVSRAWACGRLPQYDFVFSVPCHCLNRPGDAYGLQDLLFSLGPQPLVAA
  DEVFSHILKRPDRVLLILDGFEELEAQDGFLHSTCGPAPAEPCSLRGLLAGLFQKKLLRG
  CTLLLTARPRGRLVQSLSKADALFELSGFSMEQAQAYVMRYFESSGMTEHQDRALTLLRD
  RPLLLSHSHSPTLCRAVCQLSEALLELGEDAKLPSTLTGLYVGLLGRAALDSPPGALAEL
  AKLAWELGRRHQSTLQEDQFPSADVRTWAMAKGLVQHPPRAAESELAFPSFLLQCFLGAL
  WLALSGEIKDKELPQYLALTPRKKRPYDNWLEGVPRFLAGLIFQPPARCLGALLGPSAAA
  SVDRKQKVLARYLKRLQPGTLRARQLLELLHCAHEAEEAGIWQHVVQELPGRLSFLGTRL
  TPPDAHVLGKALEAAGQDFSLDLRSTGICPSGLGSLVGLSCVTRFRAALSDTVALWESLQ
  QHGETKLLQAAEEKFTIEPFKAKSLKDVEDLGKLVQTQRTRSSSEDTAGELPAVRDLKKL
  EFALGPVSGPQAFPKLVRILTAFSSLQHLDLDALSENKIGDEGVSQLSATFPQLKSLETL
  NLSQNNITDLGAYKLAEALPSLAASLLRLSLYNNCICDVGAESLARVLPDMVSLRVMDVQ
  YNKFTAAGAQQLAASLRRCPHVETLAMWTPTIPFSVQEHLQQQDSRISLR

• Sequence length: 1130

Pathways

KEGG:

Antigen processing and presentation
Toxoplasmosis
Tuberculosis
Influenza A
Primary immunodeficiency

Reactome:

Interferon gamma signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agammaglobulinemia	Agammaglobulinemia	rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404
Neutropenia	Neutropenia	rs879253882
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Addison`s disease	Addison Disease		18593762
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Bare lymphocyte syndrome	Bare Lymphocyte Syndrome, Type II, Complementation Group A, Bare lymphocyte syndrome 2, Immunodeficiency by defective expression of MHC class II		11862382, 8402893, 11862382, 7749984, 11466404, 10501838
Celiac disease	Celiac Disease	rs2305764, rs35218876	22057235
Cholangitis	Cholangitis, Cholangitis, Sclerosing
Colitis	Colitis
Digestive system neuroendocrine neoplasm	Gastro-enteropancreatic neuroendocrine tumor		29915428
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies
Dysarthria	Dysarthria
Encephalitis	Encephalitis
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Malabsorption syndrome	Malabsorption Syndrome
Nasopharyngeal neoplasms	Nasopharyngeal Neoplasms		27436580
Otitis media	Acute otitis media	rs601338, rs1047781, rs1800028
Rhinitis	Rhinitis
Sinusitis	Sinusitis