RFXANK (regulatory factor X associated ankyrin containing protein)

Gene

• Entrez ID: 8625
• Gene name: Regulatory factor X associated ankyrin containing protein
• Gene symbol: RFXANK
• Synonyms: ANKRA1, BLS, F14150_1, MHC2D2, RFX-B
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory facto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894709	A>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs751386365	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs753338285	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759667201	G>A,C	Pathogenic	Splice donor variant
rs869312922	G>T	Pathogenic	Splice donor variant
rs1568578781	->CTGCC	Pathogenic	Splice donor variant
rs1568579997	TTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCG>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1599784374	T>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT439777	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439776	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439777	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726753	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726752	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726751	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726750	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439776	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT1302629	hsa-miR-125a-5p	CLIP-seq
MIRT1302630	hsa-miR-125b	CLIP-seq
MIRT1302631	hsa-miR-149	CLIP-seq
MIRT1302632	hsa-miR-223	CLIP-seq
MIRT1302633	hsa-miR-2355-5p	CLIP-seq
MIRT1302634	hsa-miR-3064-5p	CLIP-seq
MIRT1302635	hsa-miR-3616-5p	CLIP-seq
MIRT1302636	hsa-miR-3647-5p	CLIP-seq
MIRT1302637	hsa-miR-3659	CLIP-seq
MIRT1302638	hsa-miR-3679-3p	CLIP-seq
MIRT1302639	hsa-miR-375	CLIP-seq
MIRT1302640	hsa-miR-4267	CLIP-seq
MIRT1302641	hsa-miR-4277	CLIP-seq
MIRT1302642	hsa-miR-4314	CLIP-seq
MIRT1302643	hsa-miR-4319	CLIP-seq
MIRT1302644	hsa-miR-4658	CLIP-seq
MIRT1302645	hsa-miR-4682	CLIP-seq
MIRT1302646	hsa-miR-4732-3p	CLIP-seq
MIRT1302647	hsa-miR-4794	CLIP-seq
MIRT1302648	hsa-miR-573	CLIP-seq
MIRT1302649	hsa-miR-574-5p	CLIP-seq
MIRT1302650	hsa-miR-591	CLIP-seq
MIRT1302651	hsa-miR-629	CLIP-seq
MIRT1302652	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	9806546
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	9806546
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9806546
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	9806546

Other IDs

• MIM: 603200
• HGNC: 9987
• e!Ensembl: ENSG00000064490

Protein

• UniProt ID: O14593
• Protein name: DNA-binding protein RFXANK (Ankyrin repeat family A protein 1) (Regulatory factor X subunit B) (RFX-B) (Regulatory factor X-associated ankyrin-containing protein)
• Protein function: Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:10072068, PubMed:10725724, Pub
• PDB: 3UXG, 3V30, 6MEW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	123 → 155	Ankyrin repeat	Repeat
  PF00023	Ank	189 → 221	Ankyrin repeat	Repeat

• Sequence:

  MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSS
  PQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKP
  DERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERD
  VDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQ
  VIENHILKLFQSNLVPADPE

• Sequence length: 260

Pathways

KEGG:

Antigen processing and presentation
Tuberculosis
Primary immunodeficiency

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

Unknown
Disease name	Disease term	dbSNP ID	References
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Bare lymphocyte syndrome	Bare lymphocyte syndrome 2, Immunodeficiency by defective expression of MHC class II, Bare Lymphocyte Syndrome, Type II, Complementation Group B		10072068, 22649097, 9806546, 10725724
Cholangitis	Cholangitis, Cholangitis, Sclerosing
Colitis	Colitis
Dysarthria	Dysarthria
Encephalitis	Encephalitis
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Malabsorption syndrome	Malabsorption Syndrome
Otitis media	Acute otitis media	rs601338, rs1047781, rs1800028
Rhinitis	Rhinitis
Sinusitis	Sinusitis