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H-Invitational ID: HIT000196130_03 Accession number: M64445 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor.

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

Transcript original information Accession number M64445.1 CAGE tag ID NA EST ID NA Clone Number NA Experimental resources   NBRC ; HGPD ; Antibody (CSF2RA) ; Catalog (CSF2RA); Sequence data provider NA Annotation project NA Length of cDNA 1480[bp] (No. of exon:13)[A:394 T:345 G:380 C:361] Devision NA Molecular type NA Library origin Cell type NA Tissue type NA Develpmental stage NA

Sequence quality information CDS feature Complete CDS Kozak sequence NA PolyA NA Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) CAGGAG;  Transcript quality feature NA Notes NA

CCGAGAGAAGAAAAGCAGGTGGAAGGAGAGGAAGCTGATGCCGTGGGGTT TACAGCAGGAAAATCCGTGGAGACAGCAGATCCGAGAAGCGGCGATGTTT GCGTAGAACCCTGTACGTGCTTCCTTCGGCCTGTCGCTCTTCCCTTCTCT CTGACCAGCACCATGCTTCTCCTGGTGACAAGCCTTCTGCTCTGTGAGTT ACCACACCCAGCATTCCTCCTGATCCCAGAGAAATCGGATCTGCGAACAG TGGCACCAGCCTCTAGTCTCAATGTGAGGTTTGACTCCAGGACGATGAAT TTAAGCTGGGACTGCCAAGAAAACACAACCTTCAGCAAGTGTTTCTTAAC TGACAAGAAGAACAGAGTCGTGGAACCCAGGCTCAGTAACAACGAATGTT CGTGCACATTTCGTGAAATTTGTCTGCATGAAGGAGTCACATTTGAGGTT CACGTGAATACTAGTCAAAGAGGATTTCAACAGAAACTGCTTTATCCAAA TTCAGGAAGGGAGGGTACCGCTGCTCAGAATTTCTCCTGTTTCATCTACA ATGCGGATTTAATGAACTGTACCTGGGCGAGGGGTCCGACGGCCCCCCGT GACGTCCAGTATTTTTTGTACATACGAAACTCAAAGAGAAGGAGGGAGAT CCGGTGTCCTTATTACATACAAGACTCAGGAACCCATGTGGGATGTCACC TGGATAACCTGTCAGGATTAACGTCTCGCAATTACTTTCTGGTTAACGGA ACCAGCCGAGAAATTGGCATCCAATTCTTTGATTCACTTTTGGACACAAA GAAAATAGAACGATTCAACCCTCCCAGCAATGTCACCGTACGTTGCAACA CGACGCACTGCCTCGTACGGTGGAAACAGCCCAGGACCTATCAGAAGCTG TCGTACCTGGACTTTCAGTACCAGCTGGACGTCCACAGAAAGAATACCCA GCCTGGCACGGAAAACCTACTGATTAATGTTTCTGGTGATTTGGAAAATA GATACAACTTTCCAAGCTCTGAGCCCAGAGCAAAACACAGTGTGAAGATC AGAGCTGCAGACGTCCGCATCTTGAATTGGAGCTCCTGGAGTGAAGCCAT TGAATTTGGTTCTGACGACGGGAACCTCGGCTCTGTGTACATTTATGTGC TCCTAATCGTGGGAACCCTTGTCTGTGGCATCGTCCTCGGCTTCCTCTTT AAAAGGTTCCTTAGGATACAGCGGCTGTTCCCGCCAGTTCCACAGATCAA AGACAAACTGAATGATAACCATGAGGTGGAAGACGAGATGGGACCGCAGC GTCACCACCGGTGTGGCTGGAATCTGTATCCCACTCCTGGGCCTTCTCCC GGGTCGGGGTCTTCTCCAAGGTTGGGGTCAGAGTCATCTCTGTGAGCTCC ATCAGGAGAAACTGAGGCAGGGTGGTGGTCAAGAAAAGGAGGAGAAGACG GTAGAGAGGGCCAGGCACGGTGGCTCATCT

Gene structure information

H-Inv cluster ID		HIX0176523
Genomic location	Chromosome	X
	Location	Xp22.33
	Position	1387725- 1424711
	Strand	+
Possible duplicated location(s)		HIX0159621;
Gene structure		13 exon(s)
Database links	RefSeq	NM_006140;  NM_172245;  NM_172246;  NM_172247;  NM_172249;  NM_001161529;  NM_001161530;  NM_001161531;  NM_001161532;  NR_027760;  NR_037461;
	Ensembl	ENST00000355432;  ENST00000355805;  ENST00000361536;  ENST00000381500;  ENST00000381507;  ENST00000381509;  ENST00000381524;  ENST00000381529;  ENST00000412290;  ENST00000417535;  ENST00000419094;  ENST00000432318;  ENST00000475259;  ENST00000477940;  ENST00000478256;  ENST00000481245;  ENST00000486791;  ENST00000491683;  ENST00000493312;  ENST00000494969;  ENST00000498153;  ENST00000501036;
	Entrez Gene	Entrez Gene ID:1438;
	KEGG GENES	KEGG GENES(1438);
	GeneCard	CSF2RA;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links		H-DBAS;  G-integra;  cDNA-genome alignment;

Predicted CDS information HIP ID HIP000073811 Predicted CDS 163..1395;  410[aa];  Orientation:+1;  Codon Adaptation Index (CAI). 0.747 Database links RefSeq NP_001155003;  UniProt NA CCDS NA

MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWD CQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNT SQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQY FLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSRE IGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLD FQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAAD VRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFL RIQRLFPPVPQIKDKLNDNHEVEDEMGPQRHHRCGWNLYPTPGPSPGSGS SPRLGSESSL*

Motif information

	a.a. length	InterPro	Name
	88	IPR008957	Fibronectin type III domain [Domain]
	72	IPR013783	Immunoglobulin-like fold [Domain]
	95	IPR015321	Interleukin-6 receptor alpha chain, binding [Domain]
	32	IPR003532	Short hematopoietin receptor, family 2, conserved site [Conserved_site]
	104	IPR008957	Fibronectin type III domain [Domain]
	99	IPR013783	Immunoglobulin-like fold [Domain]
	90	IPR003961	Fibronectin, type III [Domain]

Gene function information

H-Inv ID		HIT000196130_03
H-Inv cluster ID		HIX0176523
Accession number		M64445.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;  Splicing isoform
Coding potential		Protein coding;
Definition		Granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor.
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (NP_001155003)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence		Protein evidence
PubMed ID		NA
Gene family/group	H-Inv gene family/group ID	HIF0001097
	Gene family/group name	Fibronectin, type III-like fold (IPR008957).
	Evidence motif (InterPro) ID	IPR008957
Gene symbol/name	HGNC symbol	CSF2RA
	HGNC aliases	NA
	HGNC name	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
	DDBJ	GM-CSF receptor
	UniProt	NA
EC number		NA
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		NA
Protein-protein interaction (PPI)	H-Inv protein ID	HIP000073811
	No. of interaction	1
	Interaction partner(s)	HIP000226784;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	EBI-2131396;
Database links	RefSeq	NM_006140;  NM_172245;  NM_172246;  NM_172247;  NM_172249;  NM_001161529;  NM_001161530;  NM_001161531;  NM_001161532;  NR_027760;  NR_037461;
	Ensembl	ENST00000355432;  ENST00000355805;  ENST00000361536;  ENST00000381500;  ENST00000381507;  ENST00000381509;  ENST00000381524;  ENST00000381529;  ENST00000412290;  ENST00000417535;  ENST00000419094;  ENST00000432318;  ENST00000475259;  ENST00000477940;  ENST00000478256;  ENST00000481245;  ENST00000486791;  ENST00000491683;  ENST00000493312;  ENST00000494969;  ENST00000498153;  ENST00000501036;
	Entrez Gene	Entrez Gene ID:1438;
	KEGG GENES	KEGG GENES(1438);
	GeneCard	CSF2RA;  *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Auto-annotated
Notes		NA
Related H-InvDB links		Fibronectin, type III-like fold (IPR008957). Similarity Search Tool;  TACT;

fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.

NA

Gene ontology information

Molecular function	hematopoietin/interferon-class (D200-domain) cytokine receptor activity (GO:0004896);
Cellular component	membrane (GO:0016020);

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	extracellular;  peroxisome;  endoplasmic;  mitochondria;  plasma membrane;  Other;
Target P	signal peptide
SOSUI	membrane protein
TMHMM	membrane protein
PTS1	Twilight zone
Related H-InvDB links	LIFEdb;  JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Disease/pathology information

Last modified:20-Apr-2012

Disease relation		Disease name:NA
Related information in OMIM		OMIM ID:NA Title:NA
Co-localized orphan diseases		OMIM ID:  300066;  300114;  300211;  300221;  300273;  300310;  300406;  300421;  300424;  300428;  301220;  302801;  304050;  305435;  310465;  313000;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(1438)
	Disease	Entrez Gene ID:(1438)
	Substance	Entrez Gene ID:(1438)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 748 .. 748 G/A rs137852353 + CDS Nonsynonymous[Gly196Arg]  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;