Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57491
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Aryl hydrocarbon receptor repressor |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
AHRR |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
AHH, AHHR, bHLHe77 |
Chromosome
Chromosome number
|
5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5p15.33 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing Ah |
UniProt ID |
A9YTQ3
|
Protein name |
Aryl hydrocarbon receptor repressor (AhR repressor) (AhRR) (Class E basic helix-loop-helix protein 77) (bHLHe77) |
Protein function |
Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding t |
PDB |
5Y7Y
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00010
|
HLH |
33 → 80 |
Helix-loop-helix DNA-binding domain |
Domain |
PF00989
|
PAS |
114 → 187 |
PAS fold |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in testis, lung, ovary, spleen and pancreas. Highly expressed in mononuclear cells (MNCs) from umbilical cord blood. Isoform 3 is highly expressed in lung, kidney, spleen and thymus. Down-regulated malignant tissue fro |
Sequence |
MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPD IISKLDKLSVLRLSVSYLRVKSFFQVVQEQSSRQPAAGAPSPGDSCPLAGSAVLEGRLLL ESLNGFALVVSAEGTIFYASATIVDYLGFHQTDVMHQNIYDYIHVDDRQDFCRQLHWAMD PPQVVFGQPPPLETGDDAILGRLLRAQEWGTGTPTEYSAFLTRCFICRVRCLLDSTSGFL TMQFQGKLKFLFGQKKKAPSGAMLPPRLSLFCIAAPVLLPSAAEMKMRSALLRAKPRADT AATADAKVKATTSLCESELHGKPNYSAGRSSRESGVLVLREQTDAGRWAQVPARAPCLCL RGGPDLVLDPKGGSGDREEEQHRMLSRASGVTGRRETPGPTKPLPWTAGKHSEDGARPRL QPSKNDPPSLRPMPRGSCLPCPCVQGTFRNSPISHPPSPSPSAYSSRTSRPMRDVGEDQV HPPLCHFPQRSLQHQLPQPGAQRFATRGYPMEDMKLQGVPMPPGDLCGPTLLLDVSIKME KDSGCEGAADGCVPSQVWLGASDRSHPATFPTRMHLKTEPDSRQQVYISHLGHGVRGAQP HGRATAGRSRELTPFHPAHCACLEPTDGLPQSEPPHQLCARGRGEQSCTCRAAEAAPVVK REPLDSPQWATHSQGMVPGMLPKSALATLVPPQASGCTFLP
|
|
Sequence length |
701 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 View all (71 more) |
29059683 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
32928150 |
Angiofibroma |
Associate
|
22337624, 27633981, 37680034 |
Arthritis Rheumatoid |
Associate
|
28403070, 34302046, 35309329 |
Atherosclerosis |
Associate
|
30915882, 35039093 |
Azoospermia |
Associate
|
17559847 |
Breast Neoplasms |
Inhibit
|
16755028 |
Breast Neoplasms |
Associate
|
28681081 |
Carcinogenesis |
Associate
|
22412903, 36093686 |
Cardiovascular Diseases |
Associate
|
31369996 |
Chromosome Aberrations |
Associate
|
23344457 |
Cleft Palate |
Stimulate
|
28425186 |
Colitis Ulcerative |
Associate
|
38001042, 38238335 |
Crohn Disease |
Associate
|
38001042 |
Dermatitis Atopic |
Associate
|
31868801 |
Endometriosis |
Associate
|
16084889, 17513317, 19501819, 32295439 |
Essential Hypertension |
Associate
|
27977510 |
Gallbladder Neoplasms |
Inhibit
|
32801256 |
Hepatitis Autoimmune |
Associate
|
32663496 |
Infertility Male |
Associate
|
15474075, 17559847 |
Inflammation |
Associate
|
28393844 |
Inflammatory Bowel Diseases |
Associate
|
38238335 |
Lung Diseases |
Associate
|
30343628, 30915882 |
Lung Neoplasms |
Associate
|
27632354, 27924164, 28100713, 28453567, 29262847, 29722794, 30730943, 31060609, 31369996, 32962699, 37150141, 37442331, 37691855 |
Lymphoma Non Hodgkin |
Associate
|
37691855 |
Mitochondrial Diseases |
Associate
|
36359818 |
Mouth Neoplasms |
Associate
|
23648678 |
Neoplasm Metastasis |
Inhibit
|
32801256 |
Neoplasms |
Inhibit
|
22232023, 22952704, 28056099, 32801256 |
Neoplasms |
Associate
|
23583445, 23648678, 27633981, 29722794, 34570895 |
Obesity |
Associate
|
26252179 |
Obesity Maternal |
Associate
|
26252179 |
Oligospermia |
Associate
|
17559847 |
Ovarian Neoplasms |
Associate
|
37511212 |
Penis agenesis |
Associate
|
15758562 |
Polycystic Ovary Syndrome |
Associate
|
33124502 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
6946844 |
Pulmonary Disease Chronic Obstructive |
Associate
|
28100713, 30940135, 36359818 |
Sleep Initiation and Maintenance Disorders |
Associate
|
23768840, 36219910 |
Sleep Wake Disorders |
Associate
|
23768840 |
Smoke Inhalation Injury |
Associate
|
28453567, 36359818 |
Stomach Neoplasms |
Inhibit
|
22952704 |
Urinary Bladder Neoplasms |
Associate
|
36093686 |
|