Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
134
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602302 5172 ENSG00000168453
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alopecia universalis congenita Pathogenic rs2131755289, rs121434448, rs121434451, rs773764015 RCV002250954
RCV000007756
RCV000007765
RCV000761440
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrichia with papular lesions Pathogenic; Likely pathogenic rs2131756993, rs2538886837, rs121434449, rs2538873045, rs121434450, rs2538881198, rs1477806230 RCV002280826
RCV000007759
RCV000007760
RCV000007763
RCV000007764
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HR-related disorder Likely pathogenic rs2538884048 RCV004555658
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alopecia universalis Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absent eyebrow Absent eyebrow HPO_DG
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia LHGDN 11966690
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia CTD_human_DG 16455232
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 19122663, 22584530
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata HPO_DG
★☆☆☆☆
Found in Text Mining only
Alopecia universalis Alopecia universalis Pubtator 10205263, 11564167, 11886538, 21982945, 9758627 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alopecia universalis Alopecia ORPHANET_DG 9445480
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alopecia universalis Alopecia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alopecia universalis Alopecia BEFREE 9463324
★★☆☆☆
Found in Text Mining + Unknown/Other Associations