Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8625
Gene name	Regulatory factor X associated ankyrin containing protein
Gene symbol	RFXANK
Synonyms (NCBI Gene)	ANKRA1BLSF14150_1MHC2D2RFX-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

Show/Hide all (8)

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

Show/Hide all (32)

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

Show/Hide all (18)

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:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10938133, 20211142, 25752541, 31864703, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10938133
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	NAS	10938133
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9806546, 10938133
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	9806546, 10938133

MIM	HGNC	e!Ensembl
603200	9987	ENSG00000064490

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

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSS
PQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKP
DERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERD
VDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQ
VIENHILKLFQSNLVPADPE

Sequence length

260

Interactions

View interactions

	KEGG
	Antigen processing and presentation Tuberculosis Primary immunodeficiency

319

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inherited Immunodeficiency Diseases	Likely pathogenic	rs751386365	RCV001027618
MHC class II deficiency	Likely pathogenic; Pathogenic	rs1568579235, rs770387882, rs747402973, rs2146483253, rs2146496053, rs2146493181, rs776752313, rs2146492780, rs759667201, rs104894709, rs1599784393, rs1568578781, rs778357787, rs1599784374, rs1568579997 View all (5 more)	RCV001379137 RCV001385858 RCV001388116 RCV002028777 RCV001932009 RCV001944477 RCV001972273 RCV002244132 RCV003079232 RCV001261596 RCV000985115 RCV003226887 RCV000695542 RCV000779255 RCV001261595 RCV000796674 RCV000850361 RCV001051631 RCV001253463 RCV001283767 RCV001283768
MHC class II deficiency 1	Pathogenic; Likely pathogenic	rs776752313, rs104894709	RCV004558747 RCV005630244
MHC class II deficiency 2	Likely pathogenic; Pathogenic	rs1568579235, rs747402973, rs776752313, rs759667201, rs104894709, rs2512793715, rs1568579997, rs753338285, rs751386365, rs779699696	RCV005023128 RCV004576989 RCV004577006 RCV004576879 RCV004576880 RCV004577052 RCV004576969 RCV005029521 RCV004576980 RCV005029619
MHC class II deficiency 3	Likely pathogenic; Pathogenic	rs759667201	RCV004018579
RFXANK-related disorder	Likely pathogenic	rs2512813276, rs1568579997	RCV003400460 RCV003411751
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs779699696	RCV005912507

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs73922830	RCV005894803
Cervical cancer	Benign; Likely benign; Uncertain significance	rs73922830, rs150525759	RCV005894805 RCV005901623
Clear cell carcinoma of kidney	Likely benign; Benign; Uncertain significance	rs752799290, rs73922830, rs150525759	RCV005912750 RCV005894806 RCV005901624
Colon adenocarcinoma	Benign; Likely benign	rs73922830	RCV005894802
Gastric cancer	Benign; Likely benign	rs73922830, rs201676379	RCV005894808 RCV005901701
Lung cancer	Benign; Likely benign	rs73922830	RCV005894812
MHC class II deficiency 5	Uncertain significance	rs2512791524	RCV004527513
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs73922830	RCV005894804
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs73922830	RCV005894809
Sarcoma	Benign; Likely benign	rs73922830	RCV005894807
Thymoma	Benign; Likely benign	rs73922830	RCV005894811
Uterine carcinosarcoma	Benign; Likely benign	rs73922830	RCV005894810
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs73922830, rs1196984337	RCV005894813 RCV005912482

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bare lymphocyte syndrome 2	Associate	35065305
Genetic Diseases Inborn	Associate	12498778
Malocclusion Angle Class II	Associate	10072068, 12498778, 16848795, 21908431, 26634365, 30644704
Mycoses	Associate	30644704
Obsessive Compulsive Disorder	Associate	26859814
Primary Immunodeficiency Diseases	Associate	20732328
Severe Combined Immunodeficiency	Associate	10072068, 10725724, 10825209, 38441205
X Linked Combined Immunodeficiency Diseases	Associate	21908431, 34052995

RFXANK (regulatory factor X associated ankyrin containing protein)