DMXL2 gene

Dmx like 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

From UniProt:

May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81
  • DEAFNESS, AUTOSOMAL DOMINANT 71
  • Polyendocrine-polyneuropathy syndrome

From UniProt:

Deafness, autosomal dominant, 71 (DFNA71): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA71 is characterized by bilateral mild to moderate hearing loss before age 20 years, which gradually progresses to severe to profound hearing loss. [MIM:617605]

Polyendocrine-polyneuropathy syndrome (PEPNS): A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. [MIM:616113]

Epileptic encephalopathy, early infantile, 81 (EIEE81): A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE81 is an autosomal recessive form characterized by onset soon after birth, little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. [MIM:618663]

Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2

Molecular Location: base pairs 51,447,788 to 51,622,833 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2
  • DFNA71
  • EIEE81
  • PEPNS
  • RC3