ENSG00000120008


Homo sapiens

Features
Gene ID: ENSG00000120008
  
Biological name :WDR11
  
Synonyms : Q9BZH6 / WDR11 / WD repeat domain 11
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q26.12
Gene start: 120851175
Gene end: 120909524
  
Corresponding Affymetrix probe sets: 218090_s_at (Human Genome U133 Plus 2.0 Array)   229694_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263461
Ensembl peptide - ENSP00000474595
Ensembl peptide - ENSP00000474880
Ensembl peptide - ENSP00000475076
NCBI entrez gene - 55717     See in Manteia.
OMIM - 606417
RefSeq - XM_017016399
RefSeq - NM_018117
RefSeq - XM_005269962
RefSeq - XM_005269963
RefSeq - XM_005269964
RefSeq - XM_017016397
RefSeq - XM_017016398
RefSeq Peptide - NP_060587
swissprot - Q9BZH6
swissprot - S4R3P9
swissprot - S4R3Z0
swissprot - S4R451
Ensembl - ENSG00000120008
  
Related genetic diseases (OMIM): 614858 - Hypogonadotropic hypogonadism 14 with or without anosmia, 614858
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)
Ortholog nameID Species
 wdr11ENSDARG00000075245Danio rerio
 WDR11ENSGALG00000035013Gallus gallus
 Wdr11ENSMUSG00000042055Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR019775  WD40 repeat, conserved site
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000002 Abnormality of body height 
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 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000013 Hypoplastic uterus 
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 HP:0000026 Hypogonadism, male "Lack of function of the males gonads (i.e., testes)." [HPO:curators]
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 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]
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 HP:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
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 HP:0000054 Micropenis 
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 HP:0000104 Renal agenesis 
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 HP:0000134 Hypogonadism, female "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators]
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 HP:0000144 Decreased fertility 
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 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000458 Anosmia "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000551 Abnormal color vision 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0000771 Gynecomastia 
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 HP:0000786 Primary amenorrhea 
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 HP:0000789 Infertility 
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 HP:0000802 Impotence 
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 HP:0000821 Hypothyroidism 
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 HP:0000823 Delayed puberty 
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 HP:0000830 Hypopituitarism "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators]
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 HP:0000835 Adrenal hypoplasia 
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 HP:0000869 Secondary amenorrhea 
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 HP:0000873 Diabetes insipidus "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001335 Mirror hand movements (bimanual synkinesia) 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0001522 Death in infancy 
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 HP:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
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 HP:0001761 Pes cavus 
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 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]
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002215 Sparse axillary hair 
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 HP:0002225 Sparse pubic hair 
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0002652 Skeletal dysplasia 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002761 Generalized joint laxity "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators]
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 HP:0003164 Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency 
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 HP:0003187 Breast hypoplasia 
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 HP:0003782 Eunuchoid habitus 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004349 Reduced bone mineral density "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators]
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 HP:0004409 Hyposmia "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:curators]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0006610 Wide intermamillary distance 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008187 Absence of secondary sex characteristics 
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 HP:0008197 Absence of pubertal development 
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 HP:0008230 Decreased testosterone in males 
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 HP:0008527 Congenital sensorineural hearing loss 
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 HP:0008724 Hypoplastic ovary 
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 HP:0008734 Decreased testicular size 
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 HP:0008736 Hypoplasia of penis 
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 HP:0009804 Reduced number of teeth 
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 HP:0010550 Paraplegia "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:curators]
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 HP:0011755 Ectopic posterior pituitary "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the `neurohypophysis` (FMA:74628). The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson]
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0012385 Camptodactyly "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson]
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 HP:0030016 Dyspareunia "Recurrent or persistent genital pain associated with sexual intercourse." []
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 HP:0030019 Increased female libido "Elevated sexual desire in female" []
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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 HP:0100639 Erectile abnormalities 
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 HP:0100842 Septo-optic dysplasia "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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