Gene Gene information from NCBI Gene database.
Entrez ID 9734
Gene name Histone deacetylase 9
Gene symbol HDAC9
Synonyms (NCBI Gene)
ARCND4HD7HD7bHD9HDACHDAC7HDAC7BHDAC9BHDAC9FLHDRPMITR
Chromosome 7
Chromosome location 7p21.1
Summary Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene h
miRNA miRNA information provided by mirtarbase database.
41
miRTarBase ID miRNA Experiments Reference
MIRT610224 hsa-miR-8485 HITS-CLIP 23824327
MIRT610224 hsa-miR-8485 HITS-CLIP 23824327
MIRT610223 hsa-miR-342-3p HITS-CLIP 23824327
MIRT731680 hsa-miR-29a-5p Luciferase reporter assayWestern blot 26441331
MIRT731680 hsa-miR-29a-5p Luciferase reporter assayWestern blot 26441331
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
GATA4 Repression 18332107
SALL3 Repression 18332107
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0000118 Component Histone deacetylase complex TAS 12711221
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10655483
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11535832
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606543 14065 ENSG00000048052
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKV0
Protein name Histone deacetylase 9 (HD9) (EC 3.5.1.98) (Histone deacetylase 7B) (HD7) (HD7b) (Histone deacetylase-related protein) (MEF2-interacting transcription repressor MITR)
Protein function Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell c
PDB 8Q9N , 8Q9R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12203 HDAC4_Gln 37 124 Glutamine rich N terminal domain of histone deacetylase 4 Family
PF00850 Hist_deacetyl 654 972 Histone deacetylase domain Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed, with highest levels in brain, heart, muscle and testis. Isoform 3 is present in human bladder carcinoma cells (at protein level). {ECO:0000269|PubMed:10655483, ECO:0000269|PubMed:11535832, ECO:0000269|PubMed:12590135
Sequence
MHSMISSVDVKSEVPVGLEPISPLDLRTDLRMMMPVVDPVVREKQLQQELLLIQQQQQIQ
KQLLIAEFQKQHENLTRQHQAQLQEHIKELLAIKQQQELLEKEQKLEQQRQEQEVERHRR
EQQL
PPLRGKDRGRERAVASTEVKQKLQEFLLSKSATKDTPTNGKNHSVSRHPKLWYTAA
HHTSLDQSSPPLSGTSPSYKYTLPGAQDAKDDFPLRKTASEPNLKVRSRLKQKVAERRSS
PLLRRKDGNVVTSFKKRMFEVTESSVSSSSPGSGPSSPNNGPTGSVTENETSVLPPTPHA
EQMVSQQRILIHEDSMNLLSLYTSPSLPNITLGLPAVPSQLNASNSLKEKQKCETQTLRQ
GVPLPGQYGGSIPASSSHPHVTLEGKPPNSSHQALLQHLLLKEQMRQQKLLVAGGVPLHP
QSPLATKERISPGIRGTHKLPRHRPLNRTQSAPLPQSTLAQLVIQQQHQQFLEKQKQYQQ
QIHMNKLLSKSIEQLKQPGSHLEEAEEELQGDQAMQEDRAPSSGNSTRSDSSACVDDTLG
QVGAVKVKEEPVDSDEDAQIQEMESGEQAAFMQQPFLEPTHTRALSVRQAPLAAVGMDGL
EKHRLVSRTHSSPAASVLPHPAMDRPLQPGSATGIAYDPLMLKHQCVCGNSTTHPEHAGR
IQSIWSRLQETGLLNKCERIQGRKASLEEIQLVHSEHHSLLYGTNPLDGQKLDPRILLGD
DSQKFFSSLPCGGLGVDSDTIWNELHSSGAARMAVGCVIELASKVASGELKNGFAVVRPP
GHHAEESTAMGFCFFNSVAITAKYLRDQLNISKILIVDLDVHHGNGTQQAFYADPSILYI
SLHRYDEGNFFPGSGAPNEVGTGLGEGYNINIAWTGGLDPPMGDVEYLEAFRTIVKPVAK
EFDPDMVLVSAGFDALEGHTPPLGGYKVTAKCFGHLTKQLMTLADGRVVLALEGGHDLTA
ICDASEACVNAL
LGNELEPLAEDILHQSPNMNAVISLQKIIEIQSMSLKFS
Sequence length 1011
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neutrophil extracellular trap formation
Alcoholism
Viral carcinogenesis
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
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
Acne Acne BEFREE 30737272
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 30737272
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke CTD_human_DG 22306652
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 27642596
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 29978456
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18349321, 20636436, 28690313
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30034592
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22820861, 24566867
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19912635
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24650256, 29140794
★☆☆☆☆
Found in Text Mining only