Property Summary

NCBI Gene PubMed Count 261
PubMed Score 3277.63
PubTator Score 1137.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Anemia 365
Abnormal hemoglobin finding 8
Abnormality of metabolism/homeostasis 134
Alpha thalassemia-mental retardation syndrome 1
Anemia, Hemolytic 55
Aplasia/Hypoplasia of the earlobes 10
Broad flat nasal bridge 236
Broad forehead 59
Byzanthine arch palate 194
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital pectus carinatum 52
Congestive heart failure 113
Cryptorchidism 296
Downward slant of palpebral fissure 158
Dull intelligence 645
Ecchymosis 66
Failure to gain weight 365
Fatigue 182
Heart failure 162
Hemoglobin M Disease 2
Hemoglobin low 124
Hepatomegaly 285
High forehead 102
Hydrocephalus 152
Hydrops Fetalis 21
Hydrops Fetalis, Non-Immune 8
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Hypotrophic malar bone 129
Increased tendency to bruise 66
Intellectual disability 1016
Iron-Refractory Iron Deficiency Anemia 15
Low intelligence 645
Low-set, posteriorly rotated ears 110
Malar flattening 129
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Mental Retardation 645
Mental deficiency 645
Microcytic hypochromic anemia (disorder) 10
Micrognathism 275
Muscle hypotonia 571
Nasal bridge wide 236
Nonspherocytic hemolytic anemia 6
Oligohydramnios 52
Orbital separation excessive 244
Pallor 40
Pediatric failure to thrive 365
Polyhydramnios 108
Poor school performance 645
Pre-Eclampsia 68
Reduced alpha/beta synthesis ratio 3
Retrognathia 54
Short neck 140
Short stature 531
Small head 374
Speech Disorders 58
Splenomegaly 190
Tall forehead 102
Disease Target Count P-value
lung adenocarcinoma 2716 7.6e-10
facioscapulohumeral dystrophy 288 1.2e-02
breast carcinoma 1638 1.4e-02
Disease Target Count Z-score Confidence
Congenital hemolytic anemia 32 0.0 4.0

Expression

  Differential Expression (3)

Disease log2 FC p
breast carcinoma -2.100 2.0e-02
facioscapulohumeral dystrophy 2.800 3.9e-04
lung adenocarcinoma -3.500 7.2e-10

Synonym

Accession P69905 P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0
Symbols HBH
HBA-T2

Gene

PDB

1SHR   1SI4   1Y01   1Z8U   3IA3   3OVU   1A9W   4WJG   4X0L   5HU6   1FDH   4MQJ   4MQK   1A00   1A01   1A0U   1A0Z   1A3N   1A3O   1ABW   1ABY   1AJ9   1B86   1BAB   1BBB   1BIJ   1BUW   1BZ0   1BZ1   1BZZ   1C7B   1C7C   1C7D   1CLS   1CMY   1COH   1DKE   1DXT   1DXU   1DXV   1FN3   1G9V   1GBU   1GBV   1GLI   1GZX   1HAB   1HAC   1HBA   1HBB   1HBS   1HCO   1HDB   1HGA   1HGB   1HGC   1HHO   1IRD   1J3Y   1J3Z   1J40   1J41   1J7S   1J7W   1J7Y   1JY7   1K0Y   1K1K   1KD2   1LFL   1LFQ   1LFT   1LFV   1LFY   1LFZ   1LJW   1M9P   1MKO   1NEJ   1NIH   1NQP   1O1I   1O1J   1O1K   1O1L   1O1M   1O1N   1O1O   1O1P   1QI8   1QSH   1QSI   1QXD   1QXE   1R1X   1R1Y   1RPS   1RQ3   1RQ4   1RQA   1RVW   1SDK   1SDL   1THB   1UIW   1VWT   1XXT   1XY0   1XYE   1XZ2   1XZ4   1XZ5   1XZ7   1XZU   1XZV   1Y09   1Y0A   1Y0C   1Y0D   1Y0T   1Y0W   1Y22   1Y2Z   1Y31   1Y35   1Y45   1Y46   1Y4B   1Y4F   1Y4G   1Y4P   1Y4Q   1Y4R   1Y4V   1Y5F   1Y5J   1Y5K   1Y7C   1Y7D   1Y7G   1Y7Z   1Y83   1Y85   1Y8W   1YDZ   1YE0   1YE1   1YE2   1YEN   1YEO   1YEQ   1YEU   1YEV   1YFF   1YG5   1YGD   1YGF   1YH9   1YHE   1YHR   1YIE   1YIH   1YVQ   1YVT   1YZI   2D5Z   2D60   2DN1   2DN2   2DN3   2DXM   2H35   2HBC   2HBD   2HBE   2HBF   2HBS   2HCO   2HHB   2HHD   2HHE   2M6Z   2W6V   2W72   2YRS   3B75   3D17   3D7O   3DUT   3HHB   3HXN   3IC0   3IC2   3KMF   3NL7   3NMM   3ODQ   3ONZ   3OO4   3OO5   3P5Q   3QJB   3QJC   3QJD   3QJE   3R5I   3S48   3S65   3S66   3SZK   3WCP   3WHM   4FC3   4HHB   4IJ2   4L7Y   4M4A   4M4B   4MQC   4MQG   4MQH   4MQI   4N7N   4N7O   4N7P   4N8T   4NI0   4NI1   4ROL   4ROM   4XS0   5E29   5E6E   5E83   5EE4   5HY8   5JDO   5KDQ   5KSI   5KSJ   5NI1   5SW7   5U3I   5UCU   5UFJ   5URC   5X2R   5X2S   5X2T   5X2U   6HBW  

Gene RIF (113)

AA Sequence

MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNA      1 - 70
VAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSK     71 - 140
YR                                                                        141 - 142
//

Text Mined References (355)

PMID Year Title