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2025-05-09 19:35:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_199351 8127 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens immunoglobulin-like domain containing receptor 2
(ILDR2), mRNA.
ACCESSION NM_199351 XR_108301 XR_111960 XR_114930
VERSION NM_199351.2 GI:312922347
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 8127)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 8127)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AF503509.1 and AL009182.17.
On or before Dec 1, 2010 this sequence version replaced
gi:310113547, gi:310118762, gi:310132115, gi:40786419.
##Evidence-Data-START##
Transcript exon combination :: AF503509.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2572 AF503509.1 1-2572
2573-8127 AL009182.17 40853-46407 c
FEATURES Location/Qualifiers
source 1..8127
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q24.1"
gene 1..8127
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/note="immunoglobulin-like domain containing receptor 2"
/db_xref="GeneID:387597"
/db_xref="HGNC:18131"
/db_xref="HPRD:12724"
exon 1..102
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
CDS 57..1976
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/note="immunoglobulin-like domain-containing receptor 2"
/codon_start=1
/product="immunoglobulin-like domain-containing receptor 2
precursor"
/protein_id="NP_955383.1"
/db_xref="GI:40786420"
/db_xref="CCDS:CCDS1256.1"
/db_xref="GeneID:387597"
/db_xref="HGNC:18131"
/db_xref="HPRD:12724"
/translation="
MDRVLLRWISLFWLTAMVEGLQVTVPDKKKVAMLFQPTVLRCHFSTSSHQPAVVQWKFKSYCQDRMGESLGMSSTRAQSLSKRNLEWDPYLDCLDSRRTVRVVASKQGSTVTLGDFYRGREITIVHDADLQIGKLMWGDSGLYYCIITTPDDLEGKNEDSVELLVLGRTGLLADLLPSFAVEIMPEWVFVGLVLLGVFLFFVLVGICWCQCCPHSCCCYVRCPCCPDSCCCPQALYEAGKAAKAGYPPSVSGVPGPYSIPSVPLGGAPSSGMLMDKPHPPPLAPSDSTGGSHSVRKGYRIQADKERDSMKVLYYVEKELAQFDPARRMRGRYNNTISELSSLHEEDSNFRQSFHQMRSKQFPVSGDLESNPDYWSGVMGGSSGASRGPSAMEYNKEDRESFRHSQPRSKSEMLSRKNFATGVPAVSMDELAAFADSYGQRPRRADGNSHEARGGSRFERSESRAHSGFYQDDSLEEYYGQRSRSREPLTDADRGWAFSPARRRPAEDAHLPRLVSRTPGTAPKYDHSYLGSARERQARPEGASRGGSLETPSKRSAQLGPRSASYYAWSPPGTYKAGSSQDDQEDASDDALPPYSELELTRGPSYRGRDLPYHSNSEKKRKKEPAKKTNDFPTRMSLVV
"
sig_peptide 57..116
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 615..677
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q71H61.1);
transmembrane region"
exon 103..435
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 436..555
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 556..612
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 613..759
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 760..936
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 937..1050
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 1051..1267
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 1268..1940
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
exon 1941..8127
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/inference="alignment:Splign:1.39.8"
STS 4452..4602
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/standard_name="RH71166"
/db_xref="UniSTS:66361"
STS 4632..4896
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/standard_name="G65644"
/db_xref="UniSTS:225435"
variation 4963..4964
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:3087572"
variation 4964
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11108"
STS 6074..6249
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/standard_name="D1S3032"
/db_xref="UniSTS:33653"
variation 7200
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200810376"
variation 7831
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1053407"
STS 7891..8025
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/standard_name="RH98540"
/db_xref="UniSTS:92347"
STS 7982..8105
/gene="ILDR2"
/gene_synonym="C1orf32; dJ782G3.1; RP4-782G3.2"
/standard_name="WI-15586"
/db_xref="UniSTS:35348"
ORIGIN
gttccagccatttcccactttcctcactccgtaattcggctgggaagttggggaagatggatagggtcttgctgaggtggatttctctcttctggctaacagccatggtcgaaggccttcaggtcacagtgcccgacaagaagaaggtggccatgctcttccagcccactgtgcttcgctgccacttctcaacatcctcccatcagcctgcagttgtgcagtggaagttcaagtcctactgccaggatcgcatgggagaatccttgggcatgtcctctacccgggcccaatctctcagcaagagaaacctggaatgggacccctacttggattgtttggacagcaggaggactgttcgagtagtagcttcaaaacagggctcgactgtcaccctgggagatttctacaggggcagagagatcacgattgttcatgatgcagatcttcaaattggaaagcttatgtggggagacagcggactctattactgtattatcaccaccccagatgacctggaggggaaaaatgaggactcagtggaactgctggtgttgggcaggacagggctgcttgctgatctcttgcccagttttgctgtggagattatgccagagtgggtgtttgttggcctggtgctcctgggcgtcttcctcttcttcgtcctggtggggatctgctggtgccagtgctgccctcacagctgctgctgctatgtccgctgcccatgctgcccagattcctgctgctgccctcaagccttgtatgaagcagggaaagcagcaaaggccgggtaccctccctctgtctccggtgtccccggcccttactccatcccctctgtccctttgggaggagccccctcatctggcatgctgatggacaagccgcatccacctcccttggcaccaagtgactccactggaggaagccacagtgttcgcaaaggttaccggatccaggctgacaaagagagagactccatgaaggtcctgtactatgttgagaaggagctggctcagtttgatccagccagaaggatgagaggcagatataacaacaccatctcagaactcagctccctacatgaggaggacagcaatttccgccagtctttccatcagatgagaagcaagcagttccctgtgtctggggacttggagagcaatcctgactattggtcaggtgtcatgggaggcagcagtggggcaagccgcgggccctcagccatggagtataacaaagaggatcgagagagcttcaggcacagccagccgcgctccaagtcggagatgctgtcgcggaagaacttcgccacgggggtgccggccgtttccatggacgagctggcggccttcgctgactcctacggccagcggccccgccgggcagacggcaacagtcacgaggcgcggggcgggagccgcttcgagcgctcggagtcgcgggcgcacagcggcttctaccaggacgactccttggaggagtactacggtcagcgcagccgcagccgcgagcccctgaccgatgctgaccgcggctgggccttcagccccgcgcgccgcagacccgccgaggacgcgcacctgccgcggctggtgagccgcacgccaggcaccgcacccaaatacgaccactcgtacctgggcagcgcgcgggagcgccaggcgcggcccgagggcgccagccgcggtggcagcctggagacgccatccaagcggagcgcgcagctcggcccgcgcagcgcctcctactacgcttggtcgccgcccggcacctacaaggccggctcgtcgcaggacgaccaggaggacgcgtccgacgacgcgctgccgccctacagcgagctggagctgacccgcggcccgtcctaccgcggccgcgacctgccctaccacagcaactcggagaagaagaggaaaaaggagcccgccaagaaaaccaatgactttccaaccaggatgtcccttgtggtctgatgttgtcaacatttctctggataatgagaaatcagacatggactacggggacaagacacaaatctaagaaccagcaggcccaggaccttctctggccatcaccttggaagatttgctgatctctgctttggcaagggatggcaggcagcctttaagggaggctgatttcaaacctctgtgcccatctaactagtttgagaagcttaccaagaaagcaagaatgtgtgagaacattcctacatacagagtttctcaactatagcgtttatcctgcccagcctcctcccttaacagaaccaggactccatttgcaattctgaaagagagttagctctggactgctaaactccagaaattgcctatgcctacaatatgcttttctatacctcctgtgctatacttagagacagaagaatttattactactattagaaggccttcttctgacaagggaagatagcttcaagtcaaaatataccttttatccccatcactttacagtcactagtcaatgactgttgttacactaaaatcaaaaggcctttggtgagctcagtgacagtgacctctgggacaatcacagaaatgacttcactgctgttctgaatgacaattcttaagtggctaggacaaagcaaaagcgagtatacctttttgaaaagctgtctaagtggtatttccttttccattctgagaacgtaaactgctttttccttttctgctgcacatgtcaatatcggagtcttagacattaagggctcttctcttcctcccctctcctggacttcccacaggttggtgccacacacacagccctgcctccctctgcactctgattagattgtcattgaatgccttgtgataaatgcttaaaatatacacatgaaagagaagagggaggaaagaggagaaagcagtaatgcatatagaaaagaatgagaaggaatttaaaagggaaataacatcatctcattatattttgaatgtggaccatttcacccacaaacttcactcagtcttttccggttttgtgcttcacttgccgttaattgtttctgccatcccagttctgccattctaggacatgggggatgtggaacatacagcatttggcctgactagactgccactatggctgctttcaagagattagagatactgctttctcaggaaggagtacttcctattcccacccttgcctaaatgatagattttgcctaaatcccaaagctagatctctggattttatcgtttgtgtagatagcaaaaatggccacgaactctttccttctcatcaagaggtgccatcttttttccaaccccttgaatctggagttggctatgtgatttgatttagccagtagcccaacaaatgtgacacaagcagagacttgaaaagttcttgtgcatggggcttgtcctcttttgctgctcttgggaaccttgcaactaccatcaggtgaacaagcctggactatcctgctgcatgacaaaagaaaagggcccagttacccttgtcaccctatctgacagcccgtcaacttccagctgatgcagacatgggtgagtccaggtgataccaatagaagaactgcctagctgaacccagcccaaatttctgattcctactcgaggcgtgagaagttggtgcattctttatgttcatttctctttaagaacaaacctgactcgttcttgtctgaatgttcatccctgaacctcttaatccatccaaacttgtgtttctcatagcctccactattgttgacaaatttttatcaaagcttttcaccctgcactcttgtggagtggaggataatgcttgactttgctatcccttaatccagcagtggtttcttccctgtctatggatccgtggacaacctctgaagatctcttctttaccatccttttggtcttctccagagccaccctactggggctagaccctattctcaaagtaccattcctctagtatccatttgtacttcatgacatttccaaaaaaagtcctatgtttgcaatgaaataagaaagtggctgggtgagggtcggagggatgagctggtatgtgtcattgcttggagaattgacctaccaaaggacttccgtgttgctttggccagtcccagagaaatcaggagaacagttgaacccagtgctggcacttccaagggctggaagacacaagccataaccctggtgctgagttttagacttgctggtgtccctggcctctgaaagcctaggtctagcctgtctgtttggaccccagttcagatggaaaagatgataaaaaacatttcttagtcaccagctttggatttcaacttgctcaggcaattttggagaatattgggtagctgtggtagctattatcgctttatactgagcactgtgtcaggcttttcaccaccaaagagcctcatagcaccagctgcagagaccaaaaataatgtttttttaaagctacggacgtatgattttggtgaaggttgagggtagcaatgggaaagaaagaattattaaaattggaaacctgcaattccaaagacaacaaaactacagatagactgaaaagtacaaagaagatagcaggctactgaattaaccttgggagttgggaccaggttgtcctttgtagaactggataaatcattcagacttccaggctttcagtagagagaaaaagcagttgtttctgggtatatggacaggagttaaggctgagttgacaagtcaaaacttcttgtcctcagcacccctgactttcctctatgtgtccttttgtttcttctcctttgaatagtgtgtcctgcacaggaaatggttatatttgttagcttctttcctaggtcttattggagtacaaagtaaatcttgtgtaagacataatctctgtccactaggaccccgtaatttaataggggaaataagacatgctcaagaaaggagattttatacatagagtatgaaatagtgctatggataaattataataaaaccagagatttagtttttttaaaaaatgagaatactttgatattaaagtgttgtatgtgtttgtccatcatcttatttaaacatagacttggtgatctgaaaagccaatactcaaaagtctgaactgaaaagaggtgaattaggatcgggaaagggtgagcagcaggggtcccagggggatgatgcataagctgctgtgcttgcctgtgagtcactactgagtcaggaacacgctggaggagggagtgtggatgcaggtggcagggaggtgtcccctggtagatgagctgcttctctaggccatgcatggattcattaggaagttggagacaatggccatggacctggtgcatggcagctattccatccaagcacgttcacaggggagctcagcgtggctgctcctggggctcagttctgcggctgtgagtgctgctgcccatattcaccaacacagggcaggcctcacggagatgctaggcctcacatcccccttctcatgatcctcactgtgcacttgacataggattaggcatactggagatgagaaaaggctgccacccaaacccaaggcacctgaccacatctgtaaatatttctgaatagtccacaaaatttcacataggtagtctgattagatcttgcctttgagagaagctgaagtcacagatactgttgtaatttaccaccgcccctcacccaattttttttaataggtgaagaaaccatcactgccattaatgaagtcacaaacctattaggtctttagactcccaacctctggatcttttctgctgattagtgtttcccaaaattgcctaaccacaagaattaacttgatagctgctgttaaaaaggtattgttggaccctgttttggagattgattgggtgggtctagagccagaattcatatttttaatatgcattccaggagactcctgtgatcagatgcatttggaaatcattgcactaagtcatacctctgggtactccaaacagctagtcctgaggcttccttgggccttagaattttttcttcaaatgtcctggtgaggtccctctcaatcctttggggctggctgtggtgagtcactcagaagtctggctgtgacctggatgggctcaccagagtacgctagtggtagtgggaaaacaggcagagagaaaggagtgtcaggagcactcccagggaggctgttgtagatatttccattcccagaacagtgatctattgtgacagtctcagaacagacaacaagaattacaggtaattttctcattctcttgatatatttttagcaaaacttaaatcatgaatagaaggaaaagatgccattggggaaatagaaaaactcaatcattttataaagcatacaaatcataaggatgactggccaatagcactcccactttggtcttacctaaagttgggtggacaagaataataaaagtcctcattttatatccttccaaaatcagatttaaatgctgccagcatcttaatggaagtctgaaattgattgataggatgtagaaatccaaattcactaaaatagggggccagctacataaagtcctagaaggaaaaagtgcctcgcttttttctgccattatcctaccccctagtcatctggggaattgatctatgaagcttgaagaaggggcatttaacatcagagtggtgcaagggcagtgttgagatgctttaagcagcagcctgagctttagcactatttgaaggggagaaggttaatactaataatatttgtgttatttttatgatatattactgtttacagaacactttcatttgatcccaacatcaactgctgtgatagaggcagggcagatgttgtggtctcattacatagaatgtaaaactgaggttgaaaaatactaagtgacttgtctgtagtcaaatggtttttaaaattataaagccaggccttctgactgtcttgtctggtgtcctttccaattccttaaatactcatgggactggaatctgggtattccagattccagtttctcttcacagccagacatctggtgagaagagccgtagacttgatgcttgttcatatgtcatggatgtggcgaagccatgaagacagatactgttgctgcttcatccaactaagcaccattcattcctcaaatgctaatctaagagggagttgtagcttcactcaaggagagtttcgttttctttttctttcttttttttttttttgagacagggtcttgctctgtggcccatggtgcagtgcagtgcagtggtgctatcagctcactgcagtctcaaactcctagctcaagcaatcctcctccctcagcctcccaagtaggtaggactacagatatatgccaccacgtccagcaaattttgtttgtttgtagagatggggtcttgctatatttcccaggcttgtctcaaactcctggcctcaagtgatcctcccaccttggctgcctaaagtgctggtattacagacatgagccactgaacccagctgagagcctcactttcatcacctgtgctgtgaggggtaatatatgcttcaggttttctggagaatccttcttgcagagaagtttctgaatgaaacgacagattcatctggattcagaactccaggcagaagctgcttaacagcaaaaatctggcatcttcactacattttaagattttaggtagaactaagagggatcagatatagaggaataaggaatgtgagaaggaaaaagatatagtagtttagctaaatttttcttagagtttcttggtggggctggccatgaagtaactagtctgactcatttcttctgggaaggctaaaagagacacagatagcttctcttttaccttggctttaaggaaaagccattttattaacaaaagtattagacacgactgcataagaaatttgctgtgtgagaataaagaacaagggagtaggagggtgggacagagaagggtgagaagttggcttcgtgagggccacctgtcagttgtctttgtgccttgtgacatcaaaactgaaatgtttgtattactgttgtccatgactttttttttctgtgtcagacatacaaattgaatttggttgtaatgttttaaacgtaataaagaattcttacctaca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:387597 -> Biological process: GO:0009749 [response to glucose stimulus] evidence: IEA
GeneID:387597 -> Biological process: GO:0030073 [insulin secretion] evidence: IEA
GeneID:387597 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
GeneID:387597 -> Biological process: GO:0031016 [pancreas development] evidence: IEA
GeneID:387597 -> Biological process: GO:0048873 [homeostasis of number of cells within a tissue] evidence: IEA
GeneID:387597 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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