HSN2

http://dbpedia.org/resource/HSN2 an entity of type: Thing

HSN2‏ (None) هوَ بروتين يُشَفر بواسطة جين HSN2 في الإنسان. rdf:langString

Hereditary sensory neuropathy, type II also known as HSN2 is a region of a parent protein which in humans in encoded by the WNK1 gene. It is a transcript variant of the WNK1 gene that is selectively expressed in nervous system tissues, and during development. Mutations in this exon of the WNK1 gene have been identified as causative in genetic neuropathy syndromes, and in inherited pain insensitivity. rdf:langString

rdfs:label

rdf:langString HSN2

foaf:name

rdf:langString hereditary sensory neuropathy, type II

dbpprop:name

rdf:langString hereditary sensory neuropathy, type II

dbpedia-owl:wikiPageID

xsd:integer 17596196

dbpedia-owl:wikiPageRevisionID

xsd:integer 1114806220

dbpprop:omim

xsd:integer 608620

dbpprop:symbol

rdf:langString HSN2

dbpprop:uniprot

rdf:langString Q6IFS5

dbpedia-owl:abstract

rdf:langString HSN2‏ (None) هوَ بروتين يُشَفر بواسطة جين HSN2 في الإنسان.

rdf:langString Hereditary sensory neuropathy, type II also known as HSN2 is a region of a parent protein which in humans in encoded by the WNK1 gene. It is a transcript variant of the WNK1 gene that is selectively expressed in nervous system tissues, and during development. Mutations in this exon of the WNK1 gene have been identified as causative in genetic neuropathy syndromes, and in inherited pain insensitivity.

dbpprop:arm

rdf:langString p

dbpprop:band

xsd:double 13.33

dbpprop:chromosome

xsd:integer 12

dbpprop:entrezgene

xsd:integer 378465

dbpprop:hgncid

xsd:integer 23152

dbpprop:refseq

rdf:langString NM_213655