ENSG00000172943
Homo sapiens histone PHF8 h -k activity zinc binding finger demethylase phd-type transcription regulation demethylation specific chromatin dna-templated ion fyve cell cycle development oxidoreductase donors incorporation oxygen one nasal hands mental retardation jmjc
Features Gene ID: ENSG00000172943 Biological name :PHF8 Synonyms : PHD finger protein 8 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: X Strand: -1 Band: p11.22 Gene start: 53936676 Gene end: 54048958 Corresponding Affymetrix probe sets: 212916_at (Human Genome U133 Plus 2.0 Array) 215065_at (Human Genome U133 Plus 2.0 Array) 238837_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP0000040589723133
See in Manteia .
300560 XM_017029362 NM_001184896 NM_001184897 NM_001184898 NM_015107 XM_005261996 XM_005261997 XM_005261999 XM_005262000 XM_011530778 XM_017029361 NP_001171825 NP_055922 NP_001171826 NP_001171827 H0Y3N9 H0Y589 H0Y7M8 H7BZB7 Q5JPR8 B0QZE1 Q9UPP1 B0QZZ4 B0QZZ3 B0QZZ2 ENSG00000172943 Related genetic diseases (OMIM): 300263 - Mental retardation syndrome, X-linked, Siderius type, 300263
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl )Protein motifs (from Interpro )Gene Ontology (GO ) cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cycle cellular component organization nitrogen compound metabolic process biosynthetic process cellular metabolic process primary metabolic process organic substance metabolic process anatomical structure development demethylation oxidation-reduction process cell cyclecell cycle cellular compocellular component organization nitrogen componitrogen compound metabolic process biosynthetic pbiosynthetic process cellular metabcellular metabolic process primary metaboprimary metabolic process organic substaorganic substance metabolic process anatomical stranatomical structure development demethylationdemethylation oxidation-reduoxidation-reduction process chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin binding ion binding protein binding oxidoreductase activity demethylase activity catalytic activity, acting on a protein chromatin bindingchromatin binding ion bindingion binding protein bindingprotein binding oxidoreductase activityoxidoreductase activity demethylase activitydemethylase activity catalytic activity, actcatalytic activity, acting on a protein cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cell organelle membrane-enclosed lumen membrane cellcell organelleorganelle membrane-enclosed lumenmembrane-enclosed lumen membranemembrane
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnormality Head and neck abnormality Integument abnormality Neurological abnormality Abnormality of limbs Abnormality of the musculoskeletal system Gonosomal inheritance Abnormality of the voice Genitourinary abnGenitourinary abnormality Head and neck abnHead and neck abnormality Integument abnormIntegument abnormality Neurological abnoNeurological abnormality Abnormality of liAbnormality of limbs Abnormality of thAbnormality of the musculoskeletal system Gonosomal inheritGonosomal inheritance Abnormality of thAbnormality of the voice HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
Show HP:0000204 Cleft lip "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
Show HP:0000276 Long face
Show HP:0000336 Prominent supraorbital ridges "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators]
Show HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
Show HP:0000455 Broad nasal tip
Show HP:0000582 Upslanting palpebral fissures
Show HP:0000664 Synophrys "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson]
Show HP:0000750 Impaired language development
Show HP:0001176 Large hands
Show HP:0001177 Preaxial polydactyly (hands) "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators]
Show HP:0001249 Mental retardation
Show HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
Show HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
Show HP:0001611 Nasal speech
Show HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
Show HP:0002162 Low posterior hairline
Show HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
Show HP:0002942 Thoracic kyphosis
Show HP:0008734 Decreased testicular size
Show HP:0010511 Increased length of toes "The presence of abnormally long toes." [HPO:curators]
Show
Interacting proteins (from Reactome )
0 s.
