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FLASH GENE

Symbol

IL11RA

contributors: mct - updated : 03-01-2012

HGNC name	interleukin 11 receptor, alpha
HGNC id	5967

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CRSDA craniosynostosis and dental anomalies
Location	9p13      Physical location : 34.652.181 - 34.661.883
Synonym symbol(s)	ILC, MGC2146, CRSDA

DNA

TYPE	functioning gene
STRUCTURE	9.70 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004512 13 - 1776 - 422 - 1996 8786120 NM_147162 11 splicing 1458 - 390 - 1996 8786120 lacking the cytoplasmic domain NM_001142784 13 - 1760 - 422 - 1996 8786120

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid       highly Nervous nerve cranial nerve     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an Ig-like domain
	two cytokine receptor-like domains with the conserved WSXWS motif

HOMOLOGY

Homologene

FAMILY

CATEGORY

signaling cytokine , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	transmembrane protein

basic FUNCTION	IL11RA signaling is required for normal bone remodeling
	IL11/IL11RA pathway plays an important role in the progression and the differentiation of human gastric carcinomas
	IL11, along with its specific receptor, IL11RA, and downstream signalling molecules, STAT3 and SOCS3, are likely to play a role in the progression of endometrial carcinoma
	functional target in bone metastasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

IL13 (is a potent stimulator of IL11 and IL1RA)

ASSOCIATED DISORDERS

corresponding disease(s)

CRSDA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in in endometrial cancer epithelium in the Grades 1 and 2 tumours compared to epithelium from postmenopausal women tumoral     --other   aberrantly expressedin primary osseous and pulmonary metastatic osteosarcoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone others as a candidate target in human osteosarcoma and provide leads for the development of novel imaging and therapeutic agents for the management of osteosarcoma

ANIMAL & CELL MODELS

	Il11ralpha(-/-) mice displayed a significant increase in clinical severity and neuropathology of experimental autoimmune encephalomyelitis compared with wild-type littermates
	; disturbed cranial growth and suture activity in the Il11ra null mutant mice