Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3603
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol IL16   Gene   UCSC   Ensembl
Aliases LCF, NIL16, PRIL16, prIL-16
Gene name interleukin 16
Alternate names pro-interleukin-16, lymphocyte chemoattractant factor, neuronal interleukin 16, prointerleukin 16,
Gene location 15q25.1 (81181843: 81312762)     Exons: 23     NC_000015.10
Gene summary(Entrez) The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
OMIM 603035

SNPs

 rs1131445

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000677.2   g.81309441T>A
CM000677.2   g.81309441T>C
NC_000015.10   g.81309441T>A
NC_000015.10   g.81309441T>C
NC_000015.9   g.81601782T>C
NG_029933.1   g.117564T>A
NG_029933.1   g.117564T>C
NM_001172128.1   c.*643T>A
NM_001172128.1   c.*643T>C
NM_001352684.1   c.*643T>A
NM_001352684.1   c.*643T>C
NM_001352685.1   c.*643T>A
NM_001352685.1   c.*643T>C
NM_001352686.1   c.*643T>A
NM_001352686.1   c.*643T>C
NM_004513.5   c.*643T>A
NM_004513.5   c.*643T>C
NM_172217.3   c.*643T>C
NM_172217.4   c.*643T>A
NM_172217.4   c.*643T>C
NR_148035.1   n.4854T>A
NR_148035.1   n.4854T>C
XR_001751252.1   n.5311T>A
XR_001751252.1   n.5311T>C
XR_001751253.1   n.5308T>A
XR_001751253.1   n.5308T>C
XR_001751254.1   n.5361T>A
XR_001751254.1   n.5361T>C
XR_001751255.1   n.7440T>A
XR_001751255.1   n.7440T>C
XR_001751257.1   n.7153T>A
XR_001751257.1   n.7153T>C
XR_001751258.1   n.5207T>A
XR_001751258.1   n.5207T>C
XR_931805.2   n.5364T>A
XR_931805.2   n.5364T>C
rs11556218

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000677.2   g.81305928T>G
NC_000015.10   g.81305928T>G
NC_000015.9   g.81598269T>G
NG_029933.1   g.114051T>G
NM_001172128.1   c.3441T>G
NM_001352684.1   c.1611T>G
NM_001352685.1   c.2931T>G
NM_001352686.1   c.3594T>G
NM_004513.5   c.1338T>G
NM_172217.3   c.3441T>G
NM_172217.4   c.3441T>G
NP_001165599.1   p.Asn1147Lys
NP_001339613.1   p.Asn537Lys
NP_001339614.1   p.Asn977Lys
NP_001339615.1   p.Asn1198Lys
NP_004504.3   p.Asn446Lys
NP_757366.2   p.Asn1147Lys
NR_148035.1   n.3653T>G
XP_005254399.1   p.Asn1194Lys
XP_005254400.1   p.Asn1194Lys
XP_005254401.1   p.Asn537Lys
XP_005254402.1   p.Asn537Lys
XP_005254403.1   p.Asn446Lys
XP_011519821.1   p.Asn1147Lys
XP_011519822.1   p.Asn1147Lys
XP_016877629.1   p.Asn1147Lys
XP_016877630.1   p.Asn1147Lys
XP_016877631.1   p.Asn1147Lys
XP_016877632.1   p.Asn994Lys
XP_016877633.1   p.Asn977Lys
XP_016877635.1   p.Asn535Lys
XR_001751252.1   n.4110T>G
XR_001751253.1   n.4110T>G
XR_001751254.1   n.4163T>G
XR_001751255.1   n.6242T>G
XR_001751257.1   n.3893T>G
XR_001751258.1   n.4006T>G
XR_931805.2   n.4163T>G
rs4072111

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000677.2   g.81285798C>T
NC_000015.10   g.81285798C>T
NC_000015.9   g.81578139C>T
NG_029933.1   g.93921C>T
NM_001172128.1   c.1300C>T
NM_001352684.1   c.-720C>T
NM_001352685.1   c.790C>T
NM_001352686.1   c.1453C>T
NM_172217.3   c.1300C>T
NM_172217.4   c.1300C>T
NP_001165599.1   p.Pro434Ser
NP_001339614.1   p.Pro264Ser
NP_001339615.1   p.Pro485Ser
NP_757366.2   p.Pro434Ser
NR_148035.1   n.1676C>T
XP_005254399.1   p.Pro481Ser
XP_005254400.1   p.Pro481Ser
XP_011519821.1   p.Pro434Ser
XP_011519822.1   p.Pro434Ser
XP_016877629.1   p.Pro434Ser
XP_016877630.1   p.Pro434Ser
XP_016877631.1   p.Pro434Ser
XP_016877632.1   p.Pro281Ser
XP_016877633.1   p.Pro264Ser
XP_016877634.1   p.Pro434Ser
XR_001751252.1   n.1944C>T
XR_001751253.1   n.1944C>T
XR_001751254.1   n.1946C>T
XR_001751255.1   n.2505C>T
XR_001751256.1   n.2505C>T
XR_001751257.1   n.1676C>T
XR_001751258.1   n.1676C>T
XR_931805.2   n.1946C>T
rs4778889

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000677.2   g.81296654T>C
NC_000015.10   g.81296654T>C
NC_000015.9   g.81588995T>C
NG_029933.1   g.104777T>C
NM_001172128.1   c.1903-274T>C
NM_001352684.1   c.73-274T>C
NM_001352685.1   c.1393-274T>C
NM_001352686.1   c.2056-274T>C
NM_004513.5   c.-475T>C
NM_172217.3   c.1903-274T>C
NM_172217.4   c.1903-274T>C
NR_148035.1   n.2279-274T>C
XR_001751252.1   n.2547-274T>C
XR_001751253.1   n.2547-274T>C
XR_001751254.1   n.2549-274T>C
XR_001751255.1   n.4430T>C
XR_001751256.1   n.3297-274T>C
XR_001751257.1   n.2279-274T>C
XR_001751258.1   n.2468-274T>C
XR_931805.2   n.2549-274T>C

Protein Summary
Protein general information Q14005  

Name: Pro interleukin 16 [Cleaved into: Interleukin 16 (IL 16) (Lymphocyte chemoattractant factor) (LCF)]

Length: 1332  Mass: 141,752

Tissue specificity: Isoform 3 is expressed in hemopoietic tissues, such as resting T-cells, but is undetectable during active T-cell proliferation.

Sequence MESHSRAGKSRKSAKFRSISRSLMLCNAKTSDDGSSPDEKYPDPFEISLAQGKEGIFHSSVQLADTSEAGPSSVP
DLALASEAAQLQAAGNDRGKTCRRIFFMKESSTASSREKPGKLEAQSSNFLFPKACHQRARSNSTSVNPYCTREI
DFPMTKKSAAPTDRQPYSLCSNRKSLSQQLDCPAGKAAGTSRPTRSLSTAQLVQPSGGLQASVISNIVLMKGQAK
GLGFSIVGGKDSIYGPIGIYVKTIFAGGAAAADGRLQEGDEILELNGESMAGLTHQDALQKFKQAKKGLLTLTVR
TRLTAPPSLCSHLSPPLCRSLSSSTCITKDSSSFALESPSAPISTAKPNYRIMVEVSLQKEAGVGLGIGLCSVPY
FQCISGIFVHTLSPGSVAHLDGRLRCGDEIVEISDSPVHCLTLNEVYTILSHCDPGPVPIIVSRHPDPQVSEQQL
KEAVAQAVENTKFGKERHQWSLEGVKRLESSWHGRPTLEKEREKNSAPPHRRAQKVMIRSSSDSSYMSGSPGGSP
GSGSAEKPSSDVDISTHSPSLPLAREPVVLSIASSRLPQESPPLPESRDSHPPLRLKKSFEILVRKPMSSKPKPP
PRKYFKSDSDPQKSLEERENSSCSSGHTPPTCGQEARELLPLLLPQEDTAGRSPSASAGCPGPGIGPQTKSSTEG
EPGWRRASPVTQTSPIKHPLLKRQARMDYSFDTTAEDPWVRISDCIKNLFSPIMSENHGHMPLQPNASLNEEEGT
QGHPDGTPPKLDTANGTPKVYKSADSSTVKKGPPVAPKPAWFRQSLKGLRNRASDPRGLPDPALSTQPAPASREH
LGSHIRASSSSSSIRQRISSFETFGSSQLPDKGAQRLSLQPSSGEAAKPLGKHEEGRFSGLLGRGAAPTLVPQQP
EQVLSSGSPAASEARDPGVSESPPPGRQPNQKTLPPGPDPLLRLLSTQAEESQGPVLKMPSQRARSFPLTRSQSC
ETKLLDEKTSKLYSISSQVSSAVMKSLLCLPSSISCAQTPCIPKEGASPTSSSNEDSAANGSAETSALDTGFSLN
LSELREYTEGLTEAKEDDDGDHSSLQSGQSVISLLSSEELKKLIEEVKVLDEATLKQLDGIHVTILHKEEGAGLG
FSLAGGADLENKVITVHRVFPNGLASQEGTIQKGNEVLSINGKSLKGTTHHDALAILRQAREPRQAVIVTRKLTP
EAMPDLNSSTDSAASASAASDVSVESTAEATVCTVTLEKMSAGLGFSLEGGKGSLHGDKPLTINRIFKGAASEQS
ETVQPGDEILQLGGTAMQGLTRFEAWNIIKALPDGPVTIVIRRKSLQSKETTAAGDS
Structural information
Protein Domains
 PDZ (216-302)
PDZ (355-440)
PDZ (1112-1197)
PDZ (1234-1319)
Interpro:  IPR020450 IPR001478
Prosite:   PS50106

Pfam:  		 PF00595

PDB:  		 1I16 1X6D 5FB8
PDBsum:   1I16 1X6D 5FB8

DIP:  		 6006
MINT:   7006013
STRING:   ENSP00000302935;
Other Databases GeneCards:  IL16;  Malacards:  IL16

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006955 immune response
 TAS biological_process
GO:0016032 viral process
 IEA biological_process
GO:0030595 leukocyte chemotaxis
 IEA biological_process
GO:0050930 induction of positive che
motaxis
 IEA biological_process
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005125 cytokine activity
 IEA molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005622 intracellular
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006935 chemotaxis
 IEA biological_process
GO:0006955 immune response
 TAS biological_process
GO:0016032 viral process
 IEA biological_process
GO:0030595 leukocyte chemotaxis
 IEA biological_process
GO:0050930 induction of positive che
motaxis
 IEA biological_process
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0006955 immune response
 TAS biological_process

Diseases

Associated diseases References
Allergy dermatitis KEGG: H01357
Asthma PMID: 16387589
Attention-deficit hyperactivity disorder (ADHD) PMID: 18821565
Cancer PMID: 19758567
Celiac disease PMID: 19240061
Crohn's disease PMID: 12706406
Dermatitis PMID: 14657881
Endometriosis PMID: 20662556
Graves disease PMID: 18394967
Periodontitis PMID: 16178875
Endometriosis INFBASE15820794
Systemic lupus erythematosus PMID: 19298795

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20662556 Endometrio
sis
 IL-16 (rs4778889 T/C polymorphism, rs11556218 T/G polymorphism) Chinese
 433 (230 patien
ts with endomet
riosis, 203 con
trols)
 IL-16
 Show abstract
15940796 Endometrio
sis
44 (22 women wi
th different st
age endometrios
is, 22 controls
)
 IL-16
 Show abstract
15820794 Endometrio
sis
128 (34 women w
ithout endometr
iosis, 88 with
endometriosis (
30 stages I/II
endometriosis,
58 stages III/I
V endometriosis
))
 IL-16
 Show abstract