Details of PAPSS2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PAPSS2 | ATPSK2 | O95340 | PAPS2_HUMAN | 9060
| Q9UHM1
| Q9UKD3 | Bifunctional 3'-phos |
Disease |
|---|
| Disease |
OMIM id |
| Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]: A bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Clinical features include short stature evidenced at birth |
mild brachydactyly |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone ossification, Abnormal bone structure, Abnormal diaphysis morphology, Abnormal epiphyseal ossification, Abnormal form of the vertebral bodies, Abnormal hair quantity, Abnormal internal genitalia, Abnormal joint morphology, Abnormality involving the diaphyses of the limbs, Abnormality of body height, Abnormality of female internal genitalia, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin physiology, Abnormality of the calf, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the endocrine system, Abnormality of the epiphyses, Abnormality of the female genitalia, Abnormality of the fibula, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the knees, Abnormality of the lower limb, Abnormality of the menstrual cycle, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the vertebral endplates, Acne, All, Amenorrhea, Arthritis, Autosomal recessive inheritance, Bowing of the legs, Bowing of the long bones, Brachydactyly syndrome, Delayed epiphyseal ossification, Disproportionate short stature, Fibular overgrowth, Generalized abnormality of skin, Genu valgum, Genu varum, Growth abnormality, Growth delay, Hirsutism, Inflammatory abnormality of the skin, Irregular vertebral endplates, Kyphoscoliosis, Kyphosis, Lumbar scoliosis, Mode of inheritance, Osteoarthritis, Phenotypic abnormality, Platyspondyly, Puberty and gonadal disorders, Scoliosis, Secondary amenorrhea, Short digit, Short stature, Skeletal dysplasia, Spondyloepimetaphyseal dysplasia, Thoracolumbar scoliosis.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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