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	3664
Gene name	Interferon regulatory factor 6
Gene symbol	IRF6
Synonyms (NCBI Gene)	LPSOFC6PITPPSPPS1VWSVWS1
Chromosome	1
Chromosome location	1q32.2
Summary	This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein m

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28942093	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs28942094	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs28942095	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434224	C>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs121434225	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434226	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121434227	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121434228	C>T	Pathogenic	Stop gained, coding sequence variant
rs121434229	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121434230	G>A	Pathogenic	Missense variant, coding sequence variant
rs121434231	C>A	Pathogenic	Missense variant, coding sequence variant
rs200166664	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs387906967	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs387906968	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515434	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587776569	GTCCAGCAGCTTGCTAGTG>T	Pathogenic	Coding sequence variant, inframe indel
rs769068305	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs781506407	C>A,T	Likely-pathogenic	Splice donor variant
rs886038202	A>G	Pathogenic	Coding sequence variant, missense variant
rs886039388	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs886039389	C>T	Pathogenic	Coding sequence variant, stop gained
rs886039390	C>T	Pathogenic	Splice acceptor variant
rs886039391	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039570	C>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs886041484	T>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1057517975	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057520168	TCACCAGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520569	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1057520738	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057521133	T>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1057523749	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1060499555	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1064793155	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064797000	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553247595	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553247602	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553247774	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553247877	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553248271	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1553248635	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553248638	->A	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553248640	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553248641	G>A	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs1558038218	GGTACAGCTGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571979802	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571983348	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571983440	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1571986293	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

242

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018970	hsa-miR-335-5p	Microarray	18185580
MIRT1071346	hsa-miR-1208	CLIP-seq
MIRT1071347	hsa-miR-1252	CLIP-seq
MIRT1071348	hsa-miR-1256	CLIP-seq
MIRT1071349	hsa-miR-1270	CLIP-seq
MIRT1071350	hsa-miR-1273f	CLIP-seq
MIRT1071351	hsa-miR-1283	CLIP-seq
MIRT1071352	hsa-miR-1303	CLIP-seq
MIRT1071353	hsa-miR-1324	CLIP-seq
MIRT1071354	hsa-miR-141	CLIP-seq
MIRT1071355	hsa-miR-146a	CLIP-seq
MIRT1071356	hsa-miR-146b-5p	CLIP-seq
MIRT1071357	hsa-miR-200a	CLIP-seq
MIRT1071358	hsa-miR-299-5p	CLIP-seq
MIRT1071359	hsa-miR-3074-3p	CLIP-seq
MIRT1071360	hsa-miR-3123	CLIP-seq
MIRT1071361	hsa-miR-3163	CLIP-seq
MIRT1071362	hsa-miR-3169	CLIP-seq
MIRT1071363	hsa-miR-3185	CLIP-seq
MIRT1071364	hsa-miR-320a	CLIP-seq
MIRT1071365	hsa-miR-320b	CLIP-seq
MIRT1071366	hsa-miR-320c	CLIP-seq
MIRT1071367	hsa-miR-320d	CLIP-seq
MIRT1071368	hsa-miR-320e	CLIP-seq
MIRT1071369	hsa-miR-338-5p	CLIP-seq
MIRT1071370	hsa-miR-340	CLIP-seq
MIRT1071371	hsa-miR-3657	CLIP-seq
MIRT1071372	hsa-miR-3667-5p	CLIP-seq
MIRT1071373	hsa-miR-3675-3p	CLIP-seq
MIRT1071374	hsa-miR-3925-3p	CLIP-seq
MIRT1071375	hsa-miR-3925-5p	CLIP-seq
MIRT1071376	hsa-miR-3942-5p	CLIP-seq
MIRT1071377	hsa-miR-4263	CLIP-seq
MIRT1071378	hsa-miR-4266	CLIP-seq
MIRT1071379	hsa-miR-4305	CLIP-seq
MIRT1071380	hsa-miR-4311	CLIP-seq
MIRT1071381	hsa-miR-4426	CLIP-seq
MIRT1071382	hsa-miR-4429	CLIP-seq
MIRT1071383	hsa-miR-4434	CLIP-seq
MIRT1071384	hsa-miR-4449	CLIP-seq
MIRT1071385	hsa-miR-4503	CLIP-seq
MIRT1071386	hsa-miR-4504	CLIP-seq
MIRT1071387	hsa-miR-4515	CLIP-seq
MIRT1071388	hsa-miR-4516	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT1071390	hsa-miR-4521	CLIP-seq
MIRT1071391	hsa-miR-4531	CLIP-seq
MIRT1071392	hsa-miR-4647	CLIP-seq
MIRT1071393	hsa-miR-4662b	CLIP-seq
MIRT1071394	hsa-miR-4668-3p	CLIP-seq
MIRT1071395	hsa-miR-4669	CLIP-seq
MIRT1071396	hsa-miR-4683	CLIP-seq
MIRT1071397	hsa-miR-4684-5p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT1071399	hsa-miR-4703-5p	CLIP-seq
MIRT1071400	hsa-miR-4712-5p	CLIP-seq
MIRT1071401	hsa-miR-4719	CLIP-seq
MIRT1071402	hsa-miR-4777-5p	CLIP-seq
MIRT1071403	hsa-miR-487a	CLIP-seq
MIRT1071404	hsa-miR-516a-3p	CLIP-seq
MIRT1071405	hsa-miR-518d-5p	CLIP-seq
MIRT1071406	hsa-miR-519b-5p	CLIP-seq
MIRT1071407	hsa-miR-519c-5p	CLIP-seq
MIRT1071408	hsa-miR-520c-5p	CLIP-seq
MIRT1071409	hsa-miR-526a	CLIP-seq
MIRT1071410	hsa-miR-542-3p	CLIP-seq
MIRT1071411	hsa-miR-548c-3p	CLIP-seq
MIRT1071412	hsa-miR-548m	CLIP-seq
MIRT1071413	hsa-miR-577	CLIP-seq
MIRT1071414	hsa-miR-589	CLIP-seq
MIRT1071415	hsa-miR-603	CLIP-seq
MIRT1071416	hsa-miR-620	CLIP-seq
MIRT1071417	hsa-miR-656	CLIP-seq
MIRT1071418	hsa-miR-758	CLIP-seq
MIRT1071419	hsa-miR-770-5p	CLIP-seq
MIRT1071420	hsa-miR-885-3p	CLIP-seq
MIRT1071421	hsa-miR-892a	CLIP-seq
MIRT1071346	hsa-miR-1208	CLIP-seq
MIRT1071422	hsa-miR-1224-5p	CLIP-seq
MIRT1071349	hsa-miR-1270	CLIP-seq
MIRT1071423	hsa-miR-1273e	CLIP-seq
MIRT1071424	hsa-miR-130a	CLIP-seq
MIRT1071425	hsa-miR-130b	CLIP-seq
MIRT1071426	hsa-miR-148a	CLIP-seq
MIRT1071427	hsa-miR-148b	CLIP-seq
MIRT1071428	hsa-miR-150	CLIP-seq
MIRT1071429	hsa-miR-152	CLIP-seq
MIRT1071430	hsa-miR-155	CLIP-seq
MIRT1071431	hsa-miR-2115	CLIP-seq
MIRT1071432	hsa-miR-301a	CLIP-seq
MIRT1071433	hsa-miR-301b	CLIP-seq
MIRT1071362	hsa-miR-3169	CLIP-seq
MIRT1071434	hsa-miR-3666	CLIP-seq
MIRT1071435	hsa-miR-3690	CLIP-seq
MIRT1071436	hsa-miR-3915	CLIP-seq
MIRT1071437	hsa-miR-3928	CLIP-seq
MIRT1071438	hsa-miR-4254	CLIP-seq
MIRT1071377	hsa-miR-4263	CLIP-seq
MIRT1071439	hsa-miR-4264	CLIP-seq
MIRT1071440	hsa-miR-4287	CLIP-seq
MIRT1071441	hsa-miR-4295	CLIP-seq
MIRT1071383	hsa-miR-4434	CLIP-seq
MIRT1071442	hsa-miR-4496	CLIP-seq
MIRT1071385	hsa-miR-4503	CLIP-seq
MIRT1071386	hsa-miR-4504	CLIP-seq
MIRT1071387	hsa-miR-4515	CLIP-seq
MIRT1071388	hsa-miR-4516	CLIP-seq
MIRT1071390	hsa-miR-4521	CLIP-seq
MIRT1071391	hsa-miR-4531	CLIP-seq
MIRT1071443	hsa-miR-454	CLIP-seq
MIRT1071444	hsa-miR-4638-3p	CLIP-seq
MIRT1071445	hsa-miR-4646-3p	CLIP-seq
MIRT1071446	hsa-miR-4652-3p	CLIP-seq
MIRT1071447	hsa-miR-4662a-5p	CLIP-seq
MIRT1071448	hsa-miR-4671-3p	CLIP-seq
MIRT1071449	hsa-miR-4685-3p	CLIP-seq
MIRT1071450	hsa-miR-4689	CLIP-seq
MIRT1071451	hsa-miR-4713-5p	CLIP-seq
MIRT1071452	hsa-miR-4764-3p	CLIP-seq
MIRT1071453	hsa-miR-4797-3p	CLIP-seq
MIRT1071404	hsa-miR-516a-3p	CLIP-seq
MIRT1071454	hsa-miR-520f	CLIP-seq
MIRT1071455	hsa-miR-532-3p	CLIP-seq
MIRT1071456	hsa-miR-550a	CLIP-seq
MIRT1071457	hsa-miR-561	CLIP-seq
MIRT1071458	hsa-miR-587	CLIP-seq
MIRT1071416	hsa-miR-620	CLIP-seq
MIRT1071459	hsa-miR-622	CLIP-seq
MIRT1071460	hsa-miR-636	CLIP-seq
MIRT1071461	hsa-miR-645	CLIP-seq
MIRT1071420	hsa-miR-885-3p	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2017565	hsa-miR-3164	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2017567	hsa-miR-4291	CLIP-seq
MIRT2017568	hsa-miR-4724-3p	CLIP-seq
MIRT2017569	hsa-miR-4778-5p	CLIP-seq
MIRT2017570	hsa-miR-545	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2017573	hsa-miR-1298	CLIP-seq
MIRT2017574	hsa-miR-204	CLIP-seq
MIRT2017575	hsa-miR-211	CLIP-seq
MIRT2017565	hsa-miR-3164	CLIP-seq
MIRT1071364	hsa-miR-320a	CLIP-seq
MIRT1071365	hsa-miR-320b	CLIP-seq
MIRT1071366	hsa-miR-320c	CLIP-seq
MIRT1071367	hsa-miR-320d	CLIP-seq
MIRT2017576	hsa-miR-3919	CLIP-seq
MIRT1071382	hsa-miR-4429	CLIP-seq
MIRT1071385	hsa-miR-4503	CLIP-seq
MIRT2017577	hsa-miR-4758-5p	CLIP-seq
MIRT2017578	hsa-miR-4761-5p	CLIP-seq
MIRT2017579	hsa-miR-664	CLIP-seq
MIRT2249520	hsa-miR-1225-3p	CLIP-seq
MIRT2249521	hsa-miR-1233	CLIP-seq
MIRT1071423	hsa-miR-1273e	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2017574	hsa-miR-204	CLIP-seq
MIRT2017575	hsa-miR-211	CLIP-seq
MIRT2249522	hsa-miR-3136-3p	CLIP-seq
MIRT1071362	hsa-miR-3169	CLIP-seq
MIRT2249523	hsa-miR-3183	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2249524	hsa-miR-335	CLIP-seq
MIRT2249525	hsa-miR-361-3p	CLIP-seq
MIRT2249526	hsa-miR-3674	CLIP-seq
MIRT2249527	hsa-miR-3679-3p	CLIP-seq
MIRT2017576	hsa-miR-3919	CLIP-seq
MIRT2249528	hsa-miR-4268	CLIP-seq
MIRT1071440	hsa-miR-4287	CLIP-seq
MIRT2249529	hsa-miR-4433	CLIP-seq
MIRT2249530	hsa-miR-4469	CLIP-seq
MIRT1071387	hsa-miR-4515	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT2249531	hsa-miR-4632	CLIP-seq
MIRT1071449	hsa-miR-4685-3p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT2249532	hsa-miR-4723-3p	CLIP-seq
MIRT2249533	hsa-miR-4756-3p	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2249534	hsa-miR-642a	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2249535	hsa-miR-665	CLIP-seq
MIRT2249536	hsa-miR-3065-5p	CLIP-seq
MIRT2017565	hsa-miR-3164	CLIP-seq
MIRT1071368	hsa-miR-320e	CLIP-seq
MIRT2017576	hsa-miR-3919	CLIP-seq
MIRT1071415	hsa-miR-603	CLIP-seq
MIRT1071421	hsa-miR-892a	CLIP-seq
MIRT2249529	hsa-miR-4433	CLIP-seq
MIRT2451942	hsa-miR-3120-5p	CLIP-seq
MIRT2451943	hsa-miR-3613-3p	CLIP-seq
MIRT2451944	hsa-miR-3664-5p	CLIP-seq
MIRT2451945	hsa-miR-371-5p	CLIP-seq
MIRT2451946	hsa-miR-371b-5p	CLIP-seq
MIRT2451947	hsa-miR-4432	CLIP-seq
MIRT2451948	hsa-miR-4522	CLIP-seq
MIRT1071351	hsa-miR-1283	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2249536	hsa-miR-3065-5p	CLIP-seq
MIRT2451942	hsa-miR-3120-5p	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2552995	hsa-miR-330-3p	CLIP-seq
MIRT2451943	hsa-miR-3613-3p	CLIP-seq
MIRT2451944	hsa-miR-3664-5p	CLIP-seq
MIRT1071373	hsa-miR-3675-3p	CLIP-seq
MIRT2451945	hsa-miR-371-5p	CLIP-seq
MIRT2451946	hsa-miR-371b-5p	CLIP-seq
MIRT2552996	hsa-miR-4252	CLIP-seq
MIRT2451947	hsa-miR-4432	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT2451948	hsa-miR-4522	CLIP-seq
MIRT1071397	hsa-miR-4684-5p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT2552997	hsa-miR-4793-3p	CLIP-seq
MIRT2552998	hsa-miR-508-5p	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2552999	hsa-miR-766	CLIP-seq
MIRT1071351	hsa-miR-1283	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2249536	hsa-miR-3065-5p	CLIP-seq
MIRT2451942	hsa-miR-3120-5p	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2552995	hsa-miR-330-3p	CLIP-seq
MIRT2451943	hsa-miR-3613-3p	CLIP-seq
MIRT2451944	hsa-miR-3664-5p	CLIP-seq
MIRT1071373	hsa-miR-3675-3p	CLIP-seq
MIRT2451945	hsa-miR-371-5p	CLIP-seq
MIRT2451946	hsa-miR-371b-5p	CLIP-seq
MIRT2552996	hsa-miR-4252	CLIP-seq
MIRT2451947	hsa-miR-4432	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT2451948	hsa-miR-4522	CLIP-seq
MIRT1071397	hsa-miR-4684-5p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT2552997	hsa-miR-4793-3p	CLIP-seq
MIRT2552998	hsa-miR-508-5p	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2552999	hsa-miR-766	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0002376	Process	Immune system process	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	16049006, 21903422
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16049006, 18212048
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	18212048
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	28473536
GO:0043588	Process	Skin development	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21807998
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048468	Process	Cell development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072089	Process	Stem cell proliferation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

MIM	HGNC	e!Ensembl
607199	6121	ENSG00000117595

O14896

Protein name

Interferon regulatory factor 6 (IRF-6)

Protein function

Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferat

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00605	IRF	9 → 114	Interferon regulatory factor transcription factor	Domain
PF10401	IRF-3	223 → 407	Interferon-regulatory factor 3	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. {ECO:0000269|PubMed:16049006}.

Sequence

MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAW
AVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQ
GSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGN
CSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTDLDIKFQYRGKEYGQT
MTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKFPGPEHITNEKQKLFTSKLLDVMDR
GLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAPNLIERQKKVKLFCLETFLSDLIAHQK
GQIEKQPPFEIYLCFGEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSGSVR
LQISTPDIKDNIVAQLKQLYRILQTQESWQPMQPTPSMQLPPALPPQ

Sequence length

467

Interactions

View interactions

	Reactome
			Interferon gamma signaling Interferon alpha/beta signaling

692

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant popliteal pterygium syndrome	Likely pathogenic; Pathogenic	rs121434226, rs121434227, rs769068305, rs886039391, rs2077902309	RCV001775062 RCV001775063 RCV005016559 RCV005016655 RCV001254350
Cleft palate	Likely pathogenic; Pathogenic	rs28942094	RCV000414901
IRF6-related condition	Pathogenic; Likely pathogenic	rs2464669962, rs121434226, rs28942094, rs1057520738, rs1553248641, rs1553247774, rs1571986293, rs2077902309	RCV004758884 RCV004554583 RCV004730834 RCV004554773 RCV004758697 RCV004554796 RCV004554827 RCV004554854
Orofacial cleft 6, susceptibility to	Pathogenic; Likely pathogenic	rs2077857559, rs2077939791, rs2077864704, rs2077874511, rs2102541666, rs2102542809, rs1322638469, rs2102536764, rs2102542857, rs2102538567, rs1399955256, rs2102542868, rs1224922793, rs2102536939, rs121434224 View all (41 more)	RCV002242060 RCV001347857 RCV001387736 RCV001385868 RCV001389069 RCV001994614 RCV001982809 RCV001926466 RCV002009297 RCV001972448 RCV001946793 RCV001967650 RCV001942280 RCV001951323 RCV003764523 RCV002227986 RCV001040643 RCV000762880 RCV001060699 RCV002664204 RCV002651400 RCV002858441 RCV002914512 RCV002229128 RCV003022497 RCV003034417 RCV005016655 RCV000640123 RCV003780964 RCV003780966 RCV003780967 RCV003804469 RCV003809140 RCV003809099 RCV003812397 RCV001851052 RCV002231203 RCV002231759 RCV001386450 RCV001378874 RCV002231279 RCV001376737 RCV000684776 RCV001378521 RCV001037238 RCV002232628 RCV000707591 RCV000797352 RCV002234983 RCV002235135 RCV002235339 RCV002240242 RCV001047148 RCV001045750 RCV001056286 RCV001207819 RCV002570373
Popliteal pterygium syndrome	Pathogenic; Likely pathogenic	rs2077857559, rs2077939791, rs2077864704, rs2077874511, rs2102541666, rs2102542809, rs1322638469, rs2102536764, rs2102542857, rs2102538567, rs1399955256, rs2102542868, rs1224922793, rs2102536939, rs121434224 View all (45 more)	RCV002242060 RCV001347857 RCV001387736 RCV001385868 RCV001389069 RCV001994614 RCV001982809 RCV001926466 RCV002009297 RCV001972448 RCV001946793 RCV001967650 RCV001942280 RCV001951323 RCV003764523 RCV000003582 RCV000003583 RCV000003584 RCV000762880 RCV001060699 RCV000023627 RCV002664204 RCV002651400 RCV002858441 RCV002914512 RCV002229128 RCV003022497 RCV003034417 RCV000241540 RCV000640123 RCV003780964 RCV003780966 RCV003780967 RCV003804469 RCV003809140 RCV003809099 RCV003812397 RCV001851052 RCV000023629 RCV000023630 RCV000023631 RCV002231203 RCV002231759 RCV001386450 RCV001378874 RCV002231279 RCV001376737 RCV000684776 RCV001378521 RCV001037238 RCV002232628 RCV000707591 RCV000797352 RCV002234983 RCV002235135 RCV002235339 RCV002240242 RCV001047148 RCV001045750 RCV001056286 RCV001207819 RCV002570373
Van der Woude syndrome	Pathogenic; Likely pathogenic	rs2077857559, rs2077939791, rs2077864704, rs2077874511, rs2102541666, rs2102542809, rs1322638469, rs2102536764, rs2102542857, rs2102538567, rs1399955256, rs2102542868, rs1224922793, rs2102536939, rs121434224 View all (40 more)	RCV002242060 RCV001347857 RCV001387736 RCV001385868 RCV001389069 RCV001994614 RCV001982809 RCV001926466 RCV002009297 RCV001972448 RCV001946793 RCV001967650 RCV001942280 RCV001951323 RCV003764523 RCV002227986 RCV001040643 RCV001060699 RCV002664204 RCV002651400 RCV002858441 RCV002914512 RCV002229128 RCV003022497 RCV003034417 RCV000640123 RCV003315095 RCV003780964 RCV003780966 RCV003780967 RCV003804469 RCV003809140 RCV003809099 RCV003812397 RCV001851052 RCV002231203 RCV002231759 RCV001386450 RCV001378874 RCV002231279 RCV001376737 RCV000684776 RCV001378521 RCV001037238 RCV002232628 RCV000707591 RCV000797352 RCV002234983 RCV002235135 RCV002235339 RCV002240242 RCV001047148 RCV001045750 RCV001056286 RCV001207819 RCV002570373
Van der Woude syndrome 1	Pathogenic; Likely pathogenic	rs200166664, rs2102537180, rs121434224, rs587776569, rs121434227, rs28942093, rs28942094, rs121434228, rs28942095, rs121434230, rs121434231, rs769068305, rs886039391, rs2464683525, rs1060499555 View all (10 more)	RCV000087748 RCV002272756 RCV000003580 RCV000003581 RCV001261361 RCV000003585 RCV000003586 RCV000003587 RCV000003588 RCV000003591 RCV000003592 RCV000201948 RCV005016655 RCV003485014 RCV000449637 RCV000023628 RCV000590928 RCV000531368 RCV000556227 RCV000033164 RCV000677639 RCV000787350 RCV001093600 RCV001261360 RCV001290510

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cleft Lip +/- Cleft Palate, Autosomal Dominant	Benign; Uncertain significance; Likely benign	rs141112353, rs886045887, rs886045882, rs569844625, rs144945364, rs12403006, rs886045880, rs886045881, rs34743335	RCV000273049 RCV000309443 RCV000319708 RCV000400965 RCV000407243 RCV000327413 RCV000339932 RCV000290803 RCV000389793
Colorectal cancer	Uncertain significance	rs200808685	RCV005909088
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2464694692	RCV004557738
Familial cancer of breast	Benign; Uncertain significance	rs2013162, rs7552506, rs200808685	RCV005892828 RCV005892826 RCV005909086
Gastric cancer	Uncertain significance	rs200808685	RCV005909089
Hepatocellular carcinoma	Benign	rs7552506	RCV005892827
Nonpapillary renal cell carcinoma	Uncertain significance	rs200808685	RCV005909087
Orofacial cleft 10	Uncertain significance; Benign	rs1553247688, rs141653312, rs1553247880, rs1553247888, rs1553247899, rs1033149441, rs1553248180, rs1553248182, rs1553248247, rs1553248262	RCV000677190 RCV000677189 RCV000677188 RCV000677187 RCV000677186 RCV000677185 RCV000677184 RCV000677183 RCV000677182 RCV000677181
Selective tooth agenesis	Uncertain significance	rs1553247899, rs1553248262	RCV000677186 RCV000677181
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs200808685	RCV005909090

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anodontia	Associate	17318851, 18790474, 20032603, 29893310
Anophthalmia plus syndrome	Associate	18278815, 23510002
Astrocytoma	Associate	33051600
Breast Neoplasms	Associate	16049006
Carcinogenesis	Inhibit	21807998
Carcinoma Renal Cell	Associate	35441741
Carcinoma Squamous Cell	Inhibit	21807998
Carcinoma Squamous Cell	Associate	24377609
Cell Transformation Neoplastic	Associate	16049006
Cerebral Infarction	Associate	40149423
Cerebrovascular Disorders	Associate	40149423
Cleft Lip	Associate	15317890, 15994871, 17438386, 17873121, 18278815, 18978678, 19401770, 19521098, 19734457, 23154523, 23510002, 24442519, 25081408, 25896037, 27321816 View all (10 more)
Cleft Palate	Associate	15317890, 15558496, 15994871, 17438386, 18278815, 19521098, 20652317, 23510002, 23940636, 24738728, 25081408, 25896037, 27706679, 27734840, 28712851 View all (10 more)
Colonic Diseases	Associate	21859832
Colonic Neoplasms	Associate	33161410
Colorectal Neoplasms	Associate	35443865
Congenital Abnormalities	Associate	18978678
Deafness Craniofacial Syndrome	Associate	17318851
Dwarfism Pituitary	Associate	28593555
Dyslexia	Associate	27734840
Endometrial Neoplasms	Associate	35993041
Epidermal Cyst	Associate	25246526
Genetic Diseases Inborn	Associate	15558496
Haspeslagh Fryns Muelenaere syndrome	Associate	23949966
Hemiplegia	Associate	40149423
Infarction Anterior Cerebral Artery	Associate	40149423
Inflammatory Bowel Diseases	Associate	22721650
Liver Failure	Associate	30013178
Melanoma	Associate	28877249
Molar Hypomineralization	Associate	33406080
Multiple Sclerosis	Associate	30013178
Neoplasms	Inhibit	21807998, 35443865
Neoplasms	Associate	30545388
Neoplasms	Stimulate	35012444
Netherton Syndrome	Associate	35226971
Orofacial Cleft 1	Associate	15558496, 17318851, 17438386, 17564963, 21039277, 23940636, 24377609, 26346622, 27115562, 27527345, 32108996, 33137956, 33994351, 35191549, 35226971 View all (8 more)
Orofacial Cleft 3	Associate	19282774
Orofacial Cleft 4	Associate	19734457
Otofaciocervical Syndrome	Associate	26346622, 34242216, 35191549, 36901693
Pancreatic Neoplasms	Stimulate	35012444
Pancreatic Neoplasms	Associate	35682857
Popliteal Pterygium Syndrome	Associate	19282774, 23154523, 23510002, 25246526, 25547932, 25691407, 27115562, 31488442, 35906647, 36811272, 37107607
Popliteal Pterygium Syndrome Lethal Type	Associate	25246526
Rectal Neoplasms	Associate	21859832
Renal dysplasia limb defects syndrome	Associate	23949966
Sarcoma	Associate	35672466
Squamous Cell Carcinoma of Head and Neck	Associate	21798893, 24377609, 35664436
Stomach Neoplasms	Associate	20507321
Van der Woude syndrome	Associate	15317890, 15558496, 17318851, 17438386, 18278815, 19282774, 23154523, 23510002, 23949966, 24442519, 25579819, 26346622, 27115562, 29489415, 31488442 View all (8 more)
Van der Woude syndrome	Inhibit	17873121
Van der Woude syndrome 2	Associate	36901693
X Linked Combined Immunodeficiency Diseases	Associate	22721650, 35906647

IRF6 (interferon regulatory factor 6)