SIGLEC14 (sialic acid binding Ig like lectin 14) - Rat Genome Database

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Gene: SIGLEC14 (sialic acid binding Ig like lectin 14) Homo sapiens
Analyze
Symbol: SIGLEC14
Name: sialic acid binding Ig like lectin 14
RGD ID: 1625453
HGNC Page HGNC:32926
Description: Predicted to enable sialic acid binding activity. Predicted to be involved in cell adhesion. Predicted to be located in ficolin-1-rich granule membrane and tertiary granule membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LLNLR-470E3.1; sialic acid binding Ig-like lectin 14; sialic acid-binding Ig-like lectin 14; siglec-14
RGD Orthologs
Bonobo
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,639,478 - 51,646,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,639,478 - 51,646,825 (-)EnsemblGRCh38hg38GRCh38
GRCh371952,142,731 - 52,150,078 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,837,618 - 56,841,944 (-)NCBINCBI36Build 36hg18NCBI36
Celera1949,196,890 - 49,201,220 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,478,209 - 48,482,573 (-)NCBIHuRef
T2T-CHM13v2.01954,728,158 - 54,735,506 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cell adhesion  (IBA,IEA)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12975309   PMID:17012248   PMID:19369701   PMID:21873635   PMID:23519826   PMID:24799499   PMID:25208887   PMID:26459514   PMID:28005267   PMID:28454648   PMID:30377253   PMID:31805552  
PMID:34208838   PMID:36109518  


Genomics

Comparative Map Data
SIGLEC14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,639,478 - 51,646,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,639,478 - 51,646,825 (-)EnsemblGRCh38hg38GRCh38
GRCh371952,142,731 - 52,150,078 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,837,618 - 56,841,944 (-)NCBINCBI36Build 36hg18NCBI36
Celera1949,196,890 - 49,201,220 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,478,209 - 48,482,573 (-)NCBIHuRef
T2T-CHM13v2.01954,728,158 - 54,735,506 (-)NCBIT2T-CHM13v2.0
LOC100985404
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22057,683,903 - 57,691,571 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11959,610,701 - 59,615,851 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01948,587,019 - 48,591,950 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11957,438,981 - 57,473,370 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1957,469,056 - 57,473,351 (-)Ensemblpanpan1.1panPan2
SIGLEC14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1658,355,192 - 58,360,247 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,830,935 - 51,835,275 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SIGLEC14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1644,475,837 - 44,480,370 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607324,529,834 - 24,533,858 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SIGLEC14
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_001098612.1(SIGLEC14):c.*383C>A single nucleotide variant Lung cancer [RCV000101301] Chr19:51642972 [GRCh38]
Chr19:52146225 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 copy number gain See cases [RCV000143450] Chr19:51202361..51993020 [GRCh38]
Chr19:51705617..52496273 [GRCh37]
Chr19:56397429..57188085 [NCBI36]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.41(chr19:52133060-52147594)x1 copy number loss not provided [RCV000752744] Chr19:52133060..52147594 [GRCh37]
Chr19:19q13.41		 benign
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh37/hg19 19q13.41(chr19:52133060-52152017)x0 copy number loss not provided [RCV000752745] Chr19:52133060..52152017 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_001098612.3(SIGLEC14):c.771C>T (p.Ser257=) single nucleotide variant not provided [RCV000893050] Chr19:51644020 [GRCh38]
Chr19:52147273 [GRCh37]
Chr19:19q13.41		 benign
NM_001098612.3(SIGLEC14):c.565G>A (p.Asp189Asn) single nucleotide variant Inborn genetic diseases [RCV003291426] Chr19:51645917 [GRCh38]
Chr19:52149170 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 copy number gain not provided [RCV001827892] Chr19:51769834..52415762 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_001098612.3(SIGLEC14):c.779T>A (p.Met260Lys) single nucleotide variant Inborn genetic diseases [RCV003288234] Chr19:51644012 [GRCh38]
Chr19:52147265 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.1138T>C (p.Tyr380His) single nucleotide variant Inborn genetic diseases [RCV002683028] Chr19:51643547 [GRCh38]
Chr19:52146800 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.331G>C (p.Glu111Gln) single nucleotide variant Inborn genetic diseases [RCV002969913] Chr19:51646347 [GRCh38]
Chr19:52149600 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.66G>T (p.Glu22Asp) single nucleotide variant Inborn genetic diseases [RCV002781732] Chr19:51646612 [GRCh38]
Chr19:52149865 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.914A>C (p.Glu305Ala) single nucleotide variant Inborn genetic diseases [RCV002759056] Chr19:51643877 [GRCh38]
Chr19:52147130 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.238A>G (p.Arg80Gly) single nucleotide variant Inborn genetic diseases [RCV002660254] Chr19:51646440 [GRCh38]
Chr19:52149693 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.767T>C (p.Leu256Pro) single nucleotide variant Inborn genetic diseases [RCV002697592] Chr19:51644024 [GRCh38]
Chr19:52147277 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.1174G>A (p.Ala392Thr) single nucleotide variant Inborn genetic diseases [RCV002669459] Chr19:51643372 [GRCh38]
Chr19:52146625 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.478A>G (p.Thr160Ala) single nucleotide variant Inborn genetic diseases [RCV002936303] Chr19:51646004 [GRCh38]
Chr19:52149257 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.986A>T (p.His329Leu) single nucleotide variant Inborn genetic diseases [RCV003219889] Chr19:51643805 [GRCh38]
Chr19:52147058 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.544G>C (p.Gly182Arg) single nucleotide variant Inborn genetic diseases [RCV003264730] Chr19:51645938 [GRCh38]
Chr19:52149191 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_001098612.3(SIGLEC14):c.515C>T (p.Ala172Val) single nucleotide variant not provided [RCV003425392] Chr19:51645967 [GRCh38]
Chr19:52149220 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001098612.3(SIGLEC14):c.584C>T (p.Ser195Phe) single nucleotide variant Inborn genetic diseases [RCV002902711] Chr19:51645898 [GRCh38]
Chr19:52149151 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.34G>C (p.Gly12Arg) single nucleotide variant Inborn genetic diseases [RCV002746987] Chr19:51646726 [GRCh38]
Chr19:52149979 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001098612.3(SIGLEC14):c.569C>A (p.Pro190His) single nucleotide variant Inborn genetic diseases [RCV003215211] Chr19:51645913 [GRCh38]
Chr19:52149166 [GRCh37]
Chr19:19q13.41		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:617
Count of miRNA genes:400
Interacting mature miRNAs:419
Transcripts:ENST00000360844, ENST00000533866
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-146146  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.4UniSTS
HuRef1948,482,761 - 48,483,056UniSTS
TNG Radiation Hybrid Map1921865.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 78 720 15 5 1123 4 22 7 28 13 50 334 1 54 5
Low 1774 1498 1141 386 593 275 2128 990 2026 254 1051 803 111 1029 1334 2
Below cutoff 423 690 467 172 108 126 1848 1061 1488 98 229 268 49 93 1328 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000360844   ⟹   ENSP00000354090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,639,478 - 51,646,825 (-)Ensembl
RefSeq Acc Id: ENST00000533866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,642,823 - 51,645,577 (-)Ensembl
RefSeq Acc Id: NM_001098612   ⟹   NP_001092082
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,639,478 - 51,646,825 (-)NCBI
GRCh371952,145,806 - 52,150,132 (-)RGD
Build 361956,837,618 - 56,841,944 (-)NCBI Archive
Celera1949,196,890 - 49,201,220 (-)RGD
T2T-CHM13v2.01954,728,158 - 54,735,506 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437991   ⟹   XP_047293947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,643,933 - 51,646,825 (-)NCBI
RefSeq Acc Id: XM_054319428   ⟹   XP_054175403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01954,732,608 - 54,735,506 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001092082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293947 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175403 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAX47338 (Get FASTA)   NCBI Sequence Viewer  
  BAG60544 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354090
  ENSP00000354090.5
GenBank Protein Q08ET2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001092082   ⟸   NM_001098612
- Peptide Label: precursor
- UniProtKB: Q6UXG0 (UniProtKB/Swiss-Prot),   Q08ET2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000354090   ⟸   ENST00000360844
RefSeq Acc Id: XP_047293947   ⟸   XM_047437991
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175403   ⟸   XM_054319428
- Peptide Label: isoform X1
Protein Domains
Ig-like C2-type   Ig-like V-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08ET2-F1-model_v2 AlphaFold Q08ET2 1-396 view protein structure

Promoters
RGD ID:13205393
Promoter ID:EPDNEW_H26277
Type:initiation region
Name:SIGLEC14_2
Description:sialic acid binding Ig like lectin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26279  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,643,022 - 51,643,082EPDNEW
RGD ID:13205397
Promoter ID:EPDNEW_H26279
Type:initiation region
Name:SIGLEC14_1
Description:sialic acid binding Ig like lectin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26277  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,646,825 - 51,646,885EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32926 AgrOrtholog
COSMIC SIGLEC14 COSMIC
Ensembl Genes ENSG00000254415 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000360844 ENTREZGENE
  ENST00000360844.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000254415 GTEx
HGNC ID HGNC:32926 ENTREZGENE
Human Proteome Map SIGLEC14 Human Proteome Map
InterPro CD80_C2-set UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig/MHC_CS UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
KEGG Report hsa:100049587 UniProtKB/Swiss-Prot
NCBI Gene 100049587 ENTREZGENE
OMIM 618132 OMIM
PANTHER SIALIC ACID BINDING IMMUNOGLOBULIN-LIKE LECTIN UniProtKB/Swiss-Prot
  SIALIC ACID-BINDING IG-LIKE LECTIN 14 UniProtKB/Swiss-Prot
Pfam C2-set_2 UniProtKB/Swiss-Prot
  Ig_2 UniProtKB/Swiss-Prot
  V-set UniProtKB/Swiss-Prot
PharmGKB PA162403331 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
  IG_MHC UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt Q08ET2 ENTREZGENE
  Q6UXG0 ENTREZGENE
  SIG14_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6UXG0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 SIGLEC14  sialic acid binding Ig like lectin 14    sialic acid binding Ig-like lectin 14  Symbol and/or name change 5135510 APPROVED