Metazoan complexes |
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Details of RPS19 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| RPS19 | --- | P39019 | RS19_HUMAN | 6223 | ENSG00000105372 | 40S ribosomal protein S19 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. | 105650 |
Phenotypes
11 pairs of ribs, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal form of the vertebral bodies, Abnormality of blood and blood-forming tissues, Abnormality of body height, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of cardiac atrium, Abnormality of cardiac ventricle, Abnormality of cardiovascular system physiology, Abnormality of cellular immune system, Abnormality of cranial sutures, Abnormality of erythrocytes, Abnormality of facial skeleton, Abnormality of finger, Abnormality of globe location, Abnormality of granulocytes, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of leukocytes, Abnormality of limb bone morphology, Abnormality of myeloid leukocytes, Abnormality of neutrophils, Abnormality of pelvic girdle bone morphology, Abnormality of phalanx of finger, Abnormality of prenatal development or birth, Abnormality of reticulocytes, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the aorta, Abnormality of the atrial septum, Abnormality of the calvaria, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the cervical spine, Abnormality of the digits, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the hip bone, Abnormality of the ilium, Abnormality of the immune system, Abnormality of the integument, Abnormality of the intestine, Abnormality of the joints of the lower limbs, Abnormality of the large intestine, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the mandible, Abnormality of the mouth, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the parietal bone, Abnormality of the periorbital region, Abnormality of the phalanges of the thumb, Abnormality of the ribs, Abnormality of the sacrum, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the systemic arterial tree, Abnormality of the thorax, Abnormality of the thumb, Abnormality of the upper limb, Abnormality of the vasculature, Abnormality of the ventricular septum, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of thrombocytes, Abnormality of upper lip, Abnormal joint morphology, Abnormal nasal morphology, Abnormal neutrophil cell number, Abnormal platelet count, Absent thumb, Accessory phalanx of the thumb, Age of onset, All, Anemia, Anemia of inadequate production, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia involving the vertebral column, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the extremities, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the vertebrae, Aplasia of the fingers, Autosomal dominant inheritance, Bifid thoracic vertebrae, Cleft palate, Cleft upper lip, Coarctation of aorta, Cognitive impairment, Colon cancer, Congenital hypoplastic anemia, Congestive heart failure, Decreased body weight, Defect in the atrial septum, Delayed cranial suture closure, Downslanted palpebral fissures, Duplication of bones involving the upper extremities, Duplication of hand bones, Duplication of phalanx of hand, Duplication of phalanx of thumb, Failure to thrive, Flat nose, Generalized abnormality of skin, Growth abnormality, Growth delay, High palate, Hypertelorism, Hypoplastic anemia, Hypoplastic coccygeal vertebrae, Hypoplastic ilia, Hypoplastic sacral vertebrae, Hypoplastic sacrum, Infantile onset, Intellectual disability, Intrauterine growth retardation, Malformation of the heart and great vessels, Microcephaly, Micrognathia, Missing ribs, Mode of inheritance, Morphological abnormality of the central nervous system, Narrow chest, Narrow palate, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of the colon, Neoplasm of the gastrointestinal tract, Neoplasm of the large intestine, Neoplasm of the skeletal system, Neutropenia, Onset, Onset and clinical course, Oral cleft, Osteosarcoma, Pallor, Parietal foramina, Partial duplication of the phalanges of the thumb, Partial duplication of the phalanx of hand, Phenotypic abnormality, Premature birth, Reticulocytopenia, Retrognathia, Sarcoma, Short digit, Short finger, Short neck, Short stature, Short thumb, Slanting of the palpebral fissure, Strabismus, Thoracic hypoplasia, Thrombocytopenia, Thrombocytosis, Triphalangeal thumb, Ventricular septal defect, Vertebral hypoplasia, Webbed neck.
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
ENSMUSG00000072528 | RpS19a... | rps-19 | Sp-Rps19 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
RPS19 | RPL10A | 0.983008894 | RPS19 | RPL10A | cpx0 | no | yes | no | Known |
RPS19 | RPL10 | 0.882993165 | RPS19 | RPL10 | cpx0 | no | no | no | Novel |
RPS19 | RPL12 | 0.999989763 | RPS19 | RPL12 | cpx0 | no | yes | no | Known |
RPS19 | RPL13A | 0.996825518 | RPS19 | RPL13A | cpx0 | no | no | no | Novel |
RPS19 | RPL13 | 0.985200952 | RPS19 | RPL13 | cpx0 | no | no | no | Novel |
RPS19 | RPL14 | 0.942077666 | RPS19 | RPL14 | cpx0 | no | yes | no | Known |
RPS19 | RPL18 | 0.99101486 | RPS19 | RPL18 | cpx0 | no | yes | no | Known |
RPS19 | RPL19 | 0.999993635 | RPS19 | RPL19 | cpx0 | no | yes | no | Known |
RPS19 | RPL22 | 0.572441505 | RPS19 | RPL22 | cpx0 | no | yes | no | Known |
RPS19 | RPL23 | 0.980773819 | RPS19 | RPL23 | cpx0 | no | yes | no | Known |
RPS19 | RPL27A | 0.996935325 | RPS19 | RPL27A | cpx0 | no | yes | yes | Known |
RPS19 | RPL27 | 0.985880934 | RPS19 | RPL27 | cpx0 | no | no | no | Novel |
RPS19 | RPL30 | 0.837555423 | RPS19 | RPL30 | cpx0 | no | no | no | Novel |
RPS19 | RPL31 | 0.951393737 | RPS19 | RPL31 | cpx0 | no | yes | no | Known |
RPS19 | RPL35A | 0.997069438 | RPS19 | RPL35A | cpx0 | no | no | no | Novel |
RPS19 | RPL35 | 0.977359959 | RPS19 | RPL35 | cpx0 | no | yes | yes | Known |
RPS19 | RPL36 | 0.92428671 | RPS19 | RPL36 | cpx0 | no | yes | yes | Known |
RPS19 | RPL37A | 0.986306256 | RPS19 | RPL37A | cpx0 | no | yes | no | Known |
RPS19 | RPL38 | 0.911592042 | RPS19 | RPL38 | cpx0 | no | yes | no | Known |
RPS19 | RPL5 | 0.927016379 | RPS19 | RPL5 | cpx0 | no | yes | no | Known |
RPS19 | RPL7A | 0.990568473 | RPS19 | RPL7A | cpx0 | no | no | no | Novel |
RPS19 | RPL7 | 0.993016564 | RPS19 | RPL7 | cpx0 | no | yes | no | Known |
RPS19 | RPS10 | 0.891142339 | RPS19 | RPS10 | cpx0 | yes | yes | no | Known |
RPS19 | RPS11 | 0.96503628 | RPS19 | RPS11 | cpx0 | yes | yes | no | Known |
RPS19 | RPS12 | 0.995332737 | RPS19 | RPS12 | cpx0 | yes | yes | no | Known |
RPS19 | RPS13 | 0.977200054 | RPS19 | RPS13 | cpx0 | yes | yes | no | Known |
RPS19 | RPS14 | 0.834885484 | RPS19 | RPS14 | cpx0 | yes | yes | yes | Known |
RPS19 | RPS15 | 0.999987378 | RPS19 | RPS15 | cpx0 | yes | yes | no | Known |
RPL28 | RPS19 | 0.408684765 | RPL28 | RPS19 | cpx0 | no | yes | no | Known |
RPL9P9 | RPS19 | 0.859057618 | RPL9P9 | RPS19 | cpx0 | no | yes | no | Known |
RPL3 | RPS19 | 0.912028798 | RPL3 | RPS19 | cpx0 | no | yes | no | Known |
RPL26 | RPS19 | 0.992397818 | RPL26 | RPS19 | cpx0 | no | yes | yes | Known |
RPL8 | RPS19 | 0.982095013 | RPL8 | RPS19 | cpx0 | no | yes | yes | Known |
RPL6 | RPS19 | 0.989326178 | RPL6 | RPS19 | cpx0 | no | yes | no | Known |
RPLP1 | RPS19 | 0.987273 | RPLP1 | RPS19 | cpx0 | no | yes | no | Known |
RPL4 | RPS19 | 0.265077308 | RPL4 | RPS19 | cpx0 | no | yes | no | Known |
RPS20 | RPS19 | 0.799501885 | RPS20 | RPS19 | cpx0 | yes | yes | no | Known |
RPS16 | RPS19 | 0.995056039 | RPS16 | RPS19 | cpx0 | yes | yes | no | Known |
RPS2 | RPS19 | 0.715444225 | RPS2 | RPS19 | cpx0 | yes | yes | no | Known |
RPL24 | RPS19 | 0.898968217 | RPL24 | RPS19 | cpx0 | no | yes | no | Known |
RPS8 | RPS19 | 0.99665892 | RPS8 | RPS19 | cpx0 | yes | yes | no | Known |
RPL18A | RPS19 | 0.950648121 | RPL18A | RPS19 | cpx0 | no | yes | yes | Known |
RPL15 | RPS19 | 0.965055279 | RPL15 | RPS19 | cpx0 | no | yes | no | Known |
RPS27 | RPS19 | 0.44005683 | RPS27 | RPS19 | cpx0 | no | no | no | Novel |
RPS26 | RPS19 | 0.915852582 | RPS26 | RPS19 | cpx0 | yes | yes | no | Known |
RPS3 | RPS19 | 0.845376941 | RPS3 | RPS19 | cpx0 | yes | yes | no | Known |
RPS3A | RPS19 | 0.567903801 | RPS3A | RPS19 | cpx0 | yes | yes | no | Known |
RPS5 | RPS19 | 0.687533132 | RPS5 | RPS19 | cpx0 | yes | yes | yes | Known |
RPL11 | RPS19 | 0.993799741 | RPL11 | RPS19 | cpx0 | no | yes | no | Known |
RPLP2 | RPS19 | 0.768360964 | RPLP2 | RPS19 | cpx0 | no | yes | no | Known |
RPL23A | RPS19 | 0.966950998 | RPL23A | RPS19 | cpx0 | no | yes | no | Known |
RPLP0 | RPS19 | 0.997416925 | RPLP0 | RPS19 | cpx0 | no | no | no | Novel |
RPL21 | RPS19 | 0.982689479 | RPL21 | RPS19 | cpx0 | no | yes | no | Known |
RPS15A | RPS19 | 0.906823537 | RPS15A | RPS19 | cpx0 | yes | yes | no | Known |
RPS19 | RPS23 | 0.982375439 | RPS19 | RPS23 | cpx0 | yes | yes | no | Known |
RPS19 | RPS25 | 0.893014063 | RPS19 | RPS25 | cpx0 | yes | no | no | Known |
RPS19 | RPS4X | 0.981955419 | RPS19 | RPS4X | cpx0 | yes | yes | no | Known |
RPS19 | RPS6 | 0.986230792 | RPS19 | RPS6 | cpx0 | yes | yes | no | Known |
RPS19 | RPS7 | 0.996047183 | RPS19 | RPS7 | cpx0 | yes | yes | no | Known |
RPS19 | RPS9 | 0.955388863 | RPS19 | RPS9 | cpx0 | yes | no | no | Known |
RPS19 | RPSA | 0.989508017 | RPS19 | RPSA | cpx0 | yes | yes | no | Known |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
THRAP3 | RPS19 | 0.07459265 | THRAP3 | RPS19 |
KLHDC4 | RPS19 | 0.101284335 | KLHDC4 | RPS19 |
ATP1B3 | RPS19 | 0.077692774 | ATP1B3 | RPS19 |
RPS19 | PRPF4 | 0.294605223 | RPS19 | PRPF4 |
RPS19 | ASCC2 | 0.07021302 | RPS19 | ASCC2 |
ATP1B1 | RPS19 | 0.081384436 | ATP1B1 | RPS19 |
RPS19 | KPNA1 | 0.115363584 | RPS19 | KPNA1 |
RPS19 | UBA52 | 0.11208535 | RPS19 | UBA52 |