Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | PHEX | contributors: mct/npt - updated : 24-02-2015 |
HGNC name | phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) |
HGNC id | 8918 |
|
DNA |
TYPE | functioning gene |
STRUCTURE | 215.56 kb 22 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
---|
MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
---|
|
EXPRESSION |
Type | restricted |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
|
tissue |
|
cells |
|
cell lineage | osteoblasts and odontoblasts |
cell lines
fluid/secretion
| |
at STAGE |
physiological period | fetal, pregnancy |
Text | liver, lymphocytes, brain, placenta, lung |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
| |
| |
|
conjugated | GlycoP |
HOMOLOGY |
interspecies | homolog to murine Phex |
intraspecies | homolog to M13 zinc metallopeptidase |
Homologene |
FAMILY |
CATEGORY | enzyme , transport |
SUBCELLULAR LOCALIZATION | plasma membrane |
text | type II membrane protein |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | ossification |
text | involved in bone and dentin mineralization and renal phosphate reabsorption |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
repressed by | NFKB and PARP1 (NF-KB signaling and PARP1 enzymatic activity cooperatively contribute to the constitutive and inducible suppression of PHEX) | |
ASSOCIATED DISORDERS |
corresponding disease(s) | HYP1 |
related resource | PHEX Locus database |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |