CIITA (class II major histocompatibility complex transactivator)

Gene

• Entrez ID: 4261
• Gene name: Class II major histocompatibility complex transactivator
• Gene symbol: CIITA
• Synonyms (NCBI Gene): 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	IDA	19041327
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19041327
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	TAS	15771576
GO:0003713	Function	Transcription coactivator activity	IDA	19041327
GO:0003713	Function	Transcription coactivator activity	TAS	7749984
GO:0003714	Function	Transcription corepressor activity	IDA	19041327
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10938133, 16600381, 17493635, 21890893, 23007646
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006955	Process	Immune response	TAS	8402893
GO:0016301	Function	Kinase activity	IEA
GO:0016605	Component	PML body	IDA	23007646
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IDA	19041327
GO:0034341	Process	Response to type II interferon	IDA	32855215
GO:0034341	Process	Response to type II interferon	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	19041327
GO:0044877	Function	Protein-containing complex binding	IDA	17493635
GO:0045345	Process	Positive regulation of MHC class I biosynthetic process	IBA
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
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IC	9171108
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IDA	19041327
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19041327, 20639463, 32855215
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	9171108
GO:0046597	Process	Host-mediated suppression of symbiont invasion	IDA	32855215
GO:0046677	Process	Response to antibiotic	IDA	107465
GO:0060333	Process	Type II interferon-mediated signaling pathway	IDA	19041327
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19041327
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	9171108

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
MHC class II deficiency	Likely pathogenic; Pathogenic	rs2144414230, rs373613022, rs2144645392, rs2145059680, rs367628451, rs2144580551, rs2144701260, rs2144718631, rs2144728494, rs1306793050, rs2145173097, rs2039198631, rs778982759, rs2144743127, rs2144769768, rs777089127, rs2144710452, rs2144800871, rs2144745003, rs2144723164, rs2144614170, rs2144582937, rs748505119, rs2144743381, rs2144711765, rs2544475779, rs1209026051, rs2544514798, rs2544415250, rs2544469716, rs751733167, rs1371331693, rs1567415157, rs2544391908, rs2544432408, rs2544477641, rs2544497246, rs2544486476, rs2544490239, rs863223293, rs2544498925, rs2544478713, rs2544401055, rs2544492635, rs2544485110, rs2544468802, rs2544489480, rs139227684, rs2544499425, rs2544345786, rs2544486450, rs2040082093, rs2544468139, rs2544499041, rs2544475284, rs2544495876, rs2544491788, rs771994666, rs1450843506, rs2544496939, rs1064794659, rs372826934, rs901844850, rs567218474, rs1596513253, rs2039309312, rs2038865240, rs2039181631, rs2039957389	RCV001379544 RCV001379491 RCV001379510 RCV001378847 RCV001390888 RCV001390506 RCV001385360 RCV001385767 RCV001386216 RCV001919931 RCV001943314 RCV001904807 RCV001999747 RCV001960612 RCV001921092 RCV002019262 RCV001963051 RCV001963060 RCV001939482 RCV001946582 RCV001972782 RCV001956226 RCV001992300 RCV001982956 RCV001935827 RCV002615300 RCV002593156 RCV002716179 RCV002740213 RCV002810229 RCV002842596 RCV002862035 RCV002894160 RCV002858358 RCV002908989 RCV003009364 RCV003019424 RCV003042644 RCV003066139 RCV003522919 RCV003524027 RCV003523874 RCV003524086 RCV003524161 RCV003524235 RCV003523695 RCV003523739 RCV003524549 RCV003524785 RCV003524454 RCV003522731 RCV003636914 RCV003636970 RCV003637288 RCV003637821 RCV003637975 RCV003635584 RCV003635626 RCV003636832 RCV003637621 RCV003822496 RCV002525849 RCV000778455 RCV000634006 RCV000822644 RCV000821315 RCV000825516 RCV001049273 RCV001212884 RCV001205159 RCV001204286
MHC class II deficiency 1	Likely pathogenic; Pathogenic	rs2144580551, rs777089127, rs137852602, rs771073292, rs863223293, rs1555507411, rs2145057679, rs573523090, rs2544432143, rs1064794659, rs372826934, rs778982759, rs1596513253	RCV005005928 RCV005017039 RCV004566712 RCV004566713 RCV004566714 RCV004566715 RCV004566716 RCV005631203 RCV004573487 RCV005018806 RCV004568315 RCV005630330 RCV005012382
Rheumatoid arthritis	Likely pathogenic; Pathogenic	rs2144580551, rs777089127, rs1064794659, rs1596513253	RCV005005928 RCV005017039 RCV005018806 RCV005012382

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs200599265	RCV005901312
Cervical cancer	Benign	rs75483410, rs140103491	RCV005914472 RCV005893419
CIITA-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs1212936952, rs780711101, rs771046803, rs757458555, rs749939330, rs766316610, rs772620752, rs757444055, rs151317882, rs557455283, rs45621432, rs748330320, rs138376967, rs78108426, rs200599265, rs34648899, rs372749477, rs77169590, rs138250353, rs140486686, rs745753805, rs140139362, rs141202424, rs766538754, rs76686583, rs754706834, rs78666334, rs774399663, rs760410085	RCV003953778 RCV003965835 RCV003965885 RCV003913608 RCV003973722 RCV003414527 RCV003983438 RCV003969812 RCV003922332 RCV003950081 RCV003922333 RCV003892127 RCV003910203 RCV003969892 RCV003925607 RCV003915500 RCV003953119 RCV003928058 RCV003945594 RCV003980225 RCV003935772 RCV003413555 RCV003962837 RCV003930495 RCV003950487 RCV003970380 RCV003960533 RCV003935907 RCV004754685
Familial cancer of breast	Benign; Likely benign	rs4781024, rs754313400	RCV005914905 RCV005910813
Gastric cancer	Benign	rs1167357099	RCV005871276
Hepatocellular carcinoma	Benign; Likely benign	rs199476069, rs140103491	RCV005887816 RCV005893418
Hodgkin lymphoma, susceptibility to	Uncertain significance	rs1007429981	RCV004515815
Nonpapillary renal cell carcinoma	Likely benign	rs752111701	RCV005930447
Ovarian serous cystadenocarcinoma	Benign	rs140103491	RCV005893420

Associations from Text Mining
Disease Name	Relationship Type	References
Acro Osteolysis	Stimulate	35760800
Addison Disease	Associate	24614117
Adenocarcinoma of Lung	Associate	32616892
Amyotrophic Lateral Sclerosis	Associate	37722062
Anemia Hemolytic	Associate	26466379
Anodontia	Associate	20013806
Antisynthetase syndrome	Associate	30886734
Arthritis Rheumatoid	Associate	17012290, 17075826, 20942939, 22461888
Atherosclerosis	Associate	16439692
Autoimmune Diseases	Associate	17012290, 18630461
Bare lymphocyte syndrome 2	Associate	25445815, 33386785, 9177217
Behcet Syndrome	Associate	26833430
Bone Diseases	Associate	23133532
Bone Diseases	Stimulate	35760800
Breast Neoplasms	Associate	22563434, 22942358, 26126114
Carcinoma Renal Cell	Associate	21944129, 35739510
Celiac Disease	Associate	20190752, 28934294
Chlamydia Infections	Associate	10377188
Colorectal Neoplasms	Associate	20013806, 37565053
COVID 19	Associate	40163554
Crohn Disease	Stimulate	37818353
Death	Stimulate	21944129
Diabetes Mellitus Type 2	Associate	22064865
Eosinophilic Esophagitis	Associate	21281807
Epstein Barr Virus Infections	Inhibit	25631773, 32002294
Fractures Bone	Associate	23133532
Genetic Diseases Inborn	Associate	12498778
Hip Fractures	Associate	23133532
Hodgkin Disease	Associate	21368758, 23251452
Immunoglobulin G4 Related Disease	Associate	21989738
Infections	Associate	23009575
Inflammation	Associate	21944129, 22461888, 23133532
Leukemia	Associate	14563641
Leukemia Lymphocytic Chronic B Cell	Associate	19245431
Leukemia Lymphoma Adult T Cell	Associate	26792751
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	27793879
Leukemia Myeloid Acute	Associate	23251452
Lupus Erythematosus Systemic	Associate	15897313, 21614020, 30674474
Lymphoma	Associate	14563641
Lymphoma B Cell	Associate	21368758, 23251452, 26135560, 26549456, 26599546, 31292115, 40030008
Lymphoma Follicular	Associate	36575003
Lymphoma Large B Cell Diffuse	Associate	19081173, 23789844, 28479318
Lymphoma Large B Cell Diffuse	Inhibit	32002294
Malocclusion Angle Class II	Associate	12498778, 16848795, 29527204, 37674579
Melanoma	Associate	16312044, 17304627, 21903207, 23328677
Melanoma	Inhibit	19862823
Metabolic Diseases	Associate	22064865
Metabolic Syndrome	Associate	17183695
Mouth Diseases	Associate	37150829
Multiple Myeloma	Associate	10542275, 17229644, 17300840
Multiple Myeloma	Stimulate	35760800
Multiple Sclerosis	Associate	17012290, 20211854, 20942939, 21614020, 23009575, 25992516, 26203907, 30970129, 34877984, 36282535
Muscular Dystrophy Duchenne	Associate	23133532
Myocardial Infarction	Associate	17012290, 17183695, 20942939
Myositis Inclusion Body	Associate	30886734
Nasopharyngeal Carcinoma	Associate	31922974
Neoplasms	Associate	14970863, 21368758, 22064865, 25748235, 26229090, 32649887, 32859265, 36040405
Neoplasms	Inhibit	22563434
Neuroblastoma	Associate	12107114
Osteoporosis	Associate	23133532
Osteoporotic Fractures	Associate	23133532
Pancreatic Neoplasms	Associate	37923686
Prostatic Neoplasms	Associate	20053773
Rhabdomyosarcoma	Inhibit	21989738
Severe Combined Immunodeficiency	Associate	14678199, 15897313
Small Cell Lung Carcinoma	Associate	12107114
Stomach Neoplasms	Associate	32901107
Testicular Germ Cell Tumor	Associate	25748235
Thymoma	Associate	10886240
Urinary Bladder Neoplasms	Associate	34404901