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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55806
Gene name	HR lysine demethylase and nuclear receptor corepressor
Gene symbol	HR
Synonyms (NCBI Gene)	ALUNCAUHSA277165HYPT4MUHHMUHH1
Chromosome	8
Chromosome location	8p21.3
Summary	This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D r

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434448	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs121434449	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434450	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434451	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606867	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs267606868	G>C	Pathogenic	5 prime UTR variant
rs267606869	T>C	Pathogenic	5 prime UTR variant
rs387906382	A>G	Pathogenic	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs773764015	C>T	Pathogenic	Splice donor variant
rs1477806230	CTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554580532	G>C	Likely-pathogenic	Coding sequence variant, stop gained

134

Show/Hide all (134)

miRTarBase ID	miRNA	Experiments
MIRT1054517	hsa-miR-15a	CLIP-seq
MIRT1054518	hsa-miR-15b	CLIP-seq
MIRT1054519	hsa-miR-16	CLIP-seq
MIRT1054520	hsa-miR-195	CLIP-seq
MIRT1054521	hsa-miR-214	CLIP-seq
MIRT1054522	hsa-miR-24	CLIP-seq
MIRT1054523	hsa-miR-3619-5p	CLIP-seq
MIRT1054524	hsa-miR-3689d	CLIP-seq
MIRT1054525	hsa-miR-424	CLIP-seq
MIRT1054526	hsa-miR-4417	CLIP-seq
MIRT1054527	hsa-miR-4437	CLIP-seq
MIRT1054528	hsa-miR-4459	CLIP-seq
MIRT1054529	hsa-miR-4468	CLIP-seq
MIRT1054530	hsa-miR-4481	CLIP-seq
MIRT1054531	hsa-miR-4674	CLIP-seq
MIRT1054532	hsa-miR-4722-5p	CLIP-seq
MIRT1054533	hsa-miR-4731-5p	CLIP-seq
MIRT1054534	hsa-miR-4745-5p	CLIP-seq
MIRT1054535	hsa-miR-486-3p	CLIP-seq
MIRT1054536	hsa-miR-497	CLIP-seq
MIRT1054537	hsa-miR-761	CLIP-seq
MIRT1054538	hsa-miR-765	CLIP-seq
MIRT1054539	hsa-miR-936	CLIP-seq
MIRT1054540	hsa-miR-1204	CLIP-seq
MIRT1054541	hsa-miR-122	CLIP-seq
MIRT1054542	hsa-miR-1321	CLIP-seq
MIRT1054543	hsa-miR-3130-3p	CLIP-seq
MIRT1054544	hsa-miR-331-5p	CLIP-seq
MIRT1054545	hsa-miR-3659	CLIP-seq
MIRT1054546	hsa-miR-425	CLIP-seq
MIRT1054547	hsa-miR-4270	CLIP-seq
MIRT1054548	hsa-miR-4441	CLIP-seq
MIRT1054530	hsa-miR-4481	CLIP-seq
MIRT1054549	hsa-miR-4678	CLIP-seq
MIRT1054550	hsa-miR-4739	CLIP-seq
MIRT1054534	hsa-miR-4745-5p	CLIP-seq
MIRT1054551	hsa-miR-4756-5p	CLIP-seq
MIRT1054552	hsa-miR-4793-3p	CLIP-seq
MIRT2012384	hsa-miR-1273g	CLIP-seq
MIRT2012385	hsa-miR-1285	CLIP-seq
MIRT2012386	hsa-miR-146b-3p	CLIP-seq
MIRT2012387	hsa-miR-1908	CLIP-seq
MIRT2012388	hsa-miR-3173-5p	CLIP-seq
MIRT2012389	hsa-miR-3182	CLIP-seq
MIRT2012390	hsa-miR-3187-5p	CLIP-seq
MIRT2012391	hsa-miR-323b-5p	CLIP-seq
MIRT2012392	hsa-miR-371b-3p	CLIP-seq
MIRT2012393	hsa-miR-378g	CLIP-seq
MIRT2012394	hsa-miR-3936	CLIP-seq
MIRT2012395	hsa-miR-3937	CLIP-seq
MIRT2012396	hsa-miR-4314	CLIP-seq
MIRT2012397	hsa-miR-4318	CLIP-seq
MIRT2012398	hsa-miR-4486	CLIP-seq
MIRT2012399	hsa-miR-4640-5p	CLIP-seq
MIRT2012400	hsa-miR-4716-3p	CLIP-seq
MIRT2012401	hsa-miR-4720-3p	CLIP-seq
MIRT2012402	hsa-miR-4723-5p	CLIP-seq
MIRT2012403	hsa-miR-4726-5p	CLIP-seq
MIRT2012404	hsa-miR-4728-5p	CLIP-seq
MIRT2012405	hsa-miR-4797-5p	CLIP-seq
MIRT2012406	hsa-miR-612	CLIP-seq
MIRT2012407	hsa-miR-663	CLIP-seq
MIRT2012408	hsa-miR-744	CLIP-seq
MIRT2012409	hsa-miR-759	CLIP-seq
MIRT2012410	hsa-miR-874	CLIP-seq
MIRT2012411	hsa-miR-1976	CLIP-seq
MIRT2012412	hsa-miR-4667-3p	CLIP-seq
MIRT2012413	hsa-miR-4715-3p	CLIP-seq
MIRT2012413	hsa-miR-4715-3p	CLIP-seq
MIRT1054522	hsa-miR-24	CLIP-seq
MIRT2547637	hsa-miR-1207-5p	CLIP-seq
MIRT2547638	hsa-miR-1271	CLIP-seq
MIRT2547639	hsa-miR-1470	CLIP-seq
MIRT2547640	hsa-miR-182	CLIP-seq
MIRT2547641	hsa-miR-2355-5p	CLIP-seq
MIRT2547642	hsa-miR-298	CLIP-seq
MIRT2547643	hsa-miR-342-3p	CLIP-seq
MIRT2547644	hsa-miR-3612	CLIP-seq
MIRT2547645	hsa-miR-3616-3p	CLIP-seq
MIRT2547646	hsa-miR-3913-3p	CLIP-seq
MIRT2547647	hsa-miR-4279	CLIP-seq
MIRT2547648	hsa-miR-4291	CLIP-seq
MIRT2547649	hsa-miR-4293	CLIP-seq
MIRT2547650	hsa-miR-4310	CLIP-seq
MIRT2547651	hsa-miR-4436b-3p	CLIP-seq
MIRT2547652	hsa-miR-4443	CLIP-seq
MIRT1054528	hsa-miR-4459	CLIP-seq
MIRT1054529	hsa-miR-4468	CLIP-seq
MIRT2547653	hsa-miR-4469	CLIP-seq
MIRT2547654	hsa-miR-4641	CLIP-seq
MIRT2547655	hsa-miR-4660	CLIP-seq
MIRT2012412	hsa-miR-4667-3p	CLIP-seq
MIRT2012413	hsa-miR-4715-3p	CLIP-seq
MIRT1054532	hsa-miR-4722-5p	CLIP-seq
MIRT2547656	hsa-miR-4736	CLIP-seq
MIRT2547657	hsa-miR-4763-3p	CLIP-seq
MIRT2547658	hsa-miR-4763-5p	CLIP-seq
MIRT2547659	hsa-miR-4779	CLIP-seq
MIRT2547660	hsa-miR-489	CLIP-seq
MIRT2547661	hsa-miR-646	CLIP-seq
MIRT2547662	hsa-miR-650	CLIP-seq
MIRT2547663	hsa-miR-96	CLIP-seq
MIRT2547637	hsa-miR-1207-5p	CLIP-seq
MIRT2547638	hsa-miR-1271	CLIP-seq
MIRT2547639	hsa-miR-1470	CLIP-seq
MIRT2547640	hsa-miR-182	CLIP-seq
MIRT2547641	hsa-miR-2355-5p	CLIP-seq
MIRT2547642	hsa-miR-298	CLIP-seq
MIRT2547643	hsa-miR-342-3p	CLIP-seq
MIRT2547644	hsa-miR-3612	CLIP-seq
MIRT2547645	hsa-miR-3616-3p	CLIP-seq
MIRT2547646	hsa-miR-3913-3p	CLIP-seq
MIRT2547647	hsa-miR-4279	CLIP-seq
MIRT2547648	hsa-miR-4291	CLIP-seq
MIRT2547649	hsa-miR-4293	CLIP-seq
MIRT2547650	hsa-miR-4310	CLIP-seq
MIRT2547651	hsa-miR-4436b-3p	CLIP-seq
MIRT2547652	hsa-miR-4443	CLIP-seq
MIRT1054528	hsa-miR-4459	CLIP-seq
MIRT1054529	hsa-miR-4468	CLIP-seq
MIRT2547653	hsa-miR-4469	CLIP-seq
MIRT2547654	hsa-miR-4641	CLIP-seq
MIRT2547655	hsa-miR-4660	CLIP-seq
MIRT2012412	hsa-miR-4667-3p	CLIP-seq
MIRT2012413	hsa-miR-4715-3p	CLIP-seq
MIRT1054532	hsa-miR-4722-5p	CLIP-seq
MIRT2547656	hsa-miR-4736	CLIP-seq
MIRT2547657	hsa-miR-4763-3p	CLIP-seq
MIRT2547658	hsa-miR-4763-5p	CLIP-seq
MIRT2547659	hsa-miR-4779	CLIP-seq
MIRT2547660	hsa-miR-489	CLIP-seq
MIRT2547661	hsa-miR-646	CLIP-seq
MIRT2547662	hsa-miR-650	CLIP-seq
MIRT2547663	hsa-miR-96	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IBA
GO:0000785	Component	Chromatin	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0031490	Function	Chromatin DNA binding	IBA
GO:0032454	Function	Histone H3K9 demethylase activity	IBA
GO:0032454	Function	Histone H3K9 demethylase activity	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0140683	Function	Histone H3K9me/H3K9me2 demethylase activity	IEA

MIM	HGNC	e!Ensembl
602302	5172	ENSG00000168453

O43593

Protein name

Lysine-specific demethylase hairless (EC 1.14.11.65) ([histone H3]-dimethyl-L-lysine(9) demethylase hairless)

Protein function

Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle. {ECO:0000269|PubMe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02373	JmjC	1026 → 1140	JmjC domain, hydroxylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 i

Sequence

MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGPLCLGEPAPFWRGVLSTPDSW
LPPGFPQGPKDMLPLVEGEGPQNGERKVNWLGSKEGLRWKEAMLTHPLAFCGPACPPRCG
PLMPEHSGGHLKSDPVAFRPWHCPFLLETKILERAPFWVPTCLPPYLVSGLPPEHPCDWP
LTPHPWVYSGGQPKVPSAFSLGSKGFYYKDPSIPRLAKEPLAAAEPGLFGLNSGGHLQRA
GEAERPSLHQRDGEMGAGRQQNPCPLFLGQPDTVPWTSWPACPPGLVHTLGNVWAGPGDG
NLGYQLGPPATPRCPSPEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEGGASGASEPSE
EVNKASGPRACPPSHHTKLKKTWLTRHSEQFECPRGCPEVEERPVARLRALKRAGSPEVQ
GAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDP
GLQDIPCLALPAKLAQCQSCAQAAGEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEE
GPGSGPDSRLSTGLAKHLLSGLGDRLCRLLRREREALAWAQREGQGPAVTEDSPGIPRCC
SRCHHGLFNTHWRCPRCSHRLCVACGRVAGTGRAREKAGFQEQSAEECTQEAGHAACSLM
LTQFVSSQALAELSTAMHQVWVKFDIRGHCPCQADARVWAPGDAGQQKESTQKTPPTPQP
SCNGDTHRTKSIKEETPDSAETPAEDRAGRGPLPCPSLCELLASTAVKLCLGHERIHMAF
APVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGPGLRKGLGLPLSPVRPRLP
PPGALLWLQEPQPCPRRGFHLFQEHWRQGQPVLVSGIQRTLQGNLWGTEALGALGGQVQA
LSPLGPPQPSSLGSTTFWEGFSWPELRPKSDEGSVLLLHRALGDEDTSRVENLAASLPLP
EYCALHGKLNLASYLPPGLALRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHA
DTPLPAWHRAQKDFLSGLDGEGLWSPGSQVSTVWHVFRAQDAQRIRRFLQMVCPAGAGAL
EPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTVSVTQHF
LSPETSALSAQLCHQGPSLPPDCHLLYAQMDWAVFQAVKVAVGTLQEAK

Sequence length

1189

Interactions

View interactions

399

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alopecia universalis congenita	Pathogenic	rs2131755289, rs121434448, rs121434451, rs773764015	RCV002250954 RCV000007756 RCV000007765 RCV000761440
Atrichia with papular lesions	Pathogenic; Likely pathogenic	rs2131756993, rs2538886837, rs121434449, rs2538873045, rs121434450, rs2538881198, rs1477806230	RCV002280826 RCV000007759 RCV000007760 RCV000007763 RCV000007764 RCV003989912 RCV000826143
HR-related disorder	Likely pathogenic	rs2538884048	RCV004555658

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs2538886773	-
Acute myeloid leukemia	Benign	rs116703265	RCV005899359
Alopecia universalis	Conflicting classifications of pathogenicity; Benign	rs568964531, rs11446222	RCV000399640 RCV000379612
Colon adenocarcinoma	Benign	rs58080661	RCV005899360
Colorectal cancer	Benign	rs58080661	RCV005899362
Intellectual disability, autosomal dominant 14	Benign; Likely benign	rs201030061	RCV001258244
Malignant tumor of esophagus	Benign	rs58080661	RCV005899361
Melanoma	Benign	rs58080661	RCV005899365
Sarcoma	Benign	rs57612456	RCV005920039
Thymoma	Benign; Conflicting classifications of pathogenicity	rs57612456, rs58080661, rs558767137	RCV005920040 RCV005899363 RCV005914003
Thyroid cancer, nonmedullary, 1	Benign	rs58080661	RCV005899364
Uterine corpus endometrial carcinoma	Benign	rs57612456	RCV005920041

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia	Associate	10205263, 11564167, 11641275, 22466564
Alopecia universalis	Associate	10205263, 11564167, 11886538, 21982945, 9758627
Atrichia with Papular Lesions	Associate	10205263, 10594736, 11886538, 11982770, 14676077, 17869066, 18164595, 18709303, 21982945, 24334705, 32621683
Congenital alopecia X linked	Associate	10205263
Genetic Diseases Inborn	Associate	10205263, 14676077
Leukemia Promyelocytic Acute	Associate	14676077
Marie Unna congenital hypotrichosis	Associate	20163456
Osteoporosis	Associate	10594736
Skin Diseases	Associate	18164595
Travel Related Illness	Associate	9758627

HR (HR lysine demethylase and nuclear receptor corepressor)