PSG5 (pregnancy specific beta-1-glycoprotein 5) - Rat Genome Database

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Gene: PSG5 (pregnancy specific beta-1-glycoprotein 5) Homo sapiens
Analyze
No known orthologs.
Symbol: PSG5
Name: pregnancy specific beta-1-glycoprotein 5
RGD ID: 1353998
HGNC Page HGNC:9522
Description: Predicted to be involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to be located in extracellular region. Predicted to be active in cell surface.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: fetal liver non-specific cross-reactive antigen 3; FL-NCA-3; pregnancy-specific beta 1 glycoprotein; pregnancy-specific beta-1 glycoprotein; pregnancy-specific beta-1-glycoprotein 5; Pregnancy-specific beta-1-glycoprotein-5; pregnancy-specific glycoprotein 5; PS-beta-G-5; PSBG-5; PSG
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381943,167,743 - 43,186,536 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1943,166,256 - 43,186,536 (-)EnsemblGRCh38hg38GRCh38
GRCh371943,671,895 - 43,690,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,363,735 - 48,383,286 (-)NCBINCBI36Build 36hg18NCBI36
Build 341948,363,735 - 48,382,492NCBI
Celera1940,472,487 - 40,491,282 (-)NCBICelera
Cytogenetic Map19q13.31NCBI
HuRef1940,101,586 - 40,120,382 (-)NCBIHuRef
CHM1_11943,673,544 - 43,692,380 (-)NCBICHM1_1
T2T-CHM13v2.01945,988,311 - 46,007,149 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1454058   PMID:1690992   PMID:1922019   PMID:2537643   PMID:2735907   PMID:2789512   PMID:7794280   PMID:7851895   PMID:8889549   PMID:12477932   PMID:15231748   PMID:15489334  
PMID:16344560   PMID:16563348   PMID:17207965   PMID:17978129   PMID:21873635   PMID:21982860   PMID:23418492   PMID:23469002   PMID:25464930   PMID:26186194  


Genomics

Variants

.
Variants in PSG5
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3 copy number gain See cases [RCV000050787] Chr19:42738643..43237158 [GRCh38]
Chr19:43242795..43741310 [GRCh37]
Chr19:47934635..48433150 [NCBI36]
Chr19:19q13.2-13.31		 benign
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1 copy number loss See cases [RCV000050788] Chr19:42738643..43237158 [GRCh38]
Chr19:43242795..43741310 [GRCh37]
Chr19:47934635..48433150 [NCBI36]
Chr19:19q13.2-13.31		 benign
NM_001130014.1(PSG5):c.740C>T (p.Ser247Leu) single nucleotide variant Malignant melanoma [RCV000072187] Chr19:43175439 [GRCh38]
Chr19:43679591 [GRCh37]
Chr19:48371431 [NCBI36]
Chr19:19q13.31		 not provided
NM_002781.4(PSG5):c.910C>T (p.Arg304Cys) single nucleotide variant not specified [RCV004112613] Chr19:43175269 [GRCh38]
Chr19:43679421 [GRCh37]
Chr19:48371261 [NCBI36]
Chr19:19q13.31		 uncertain significance|not provided
NM_001130014.1(PSG5):c.480G>A (p.Glu160=) single nucleotide variant Malignant melanoma [RCV000063560] Chr19:43176099 [GRCh38]
Chr19:43680251 [GRCh37]
Chr19:48372091 [NCBI36]
Chr19:19q13.31		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q13.31(chr19:43025649-43237158)x3 copy number gain See cases [RCV000133731] Chr19:43025649..43237158 [GRCh38]
Chr19:43529801..43741310 [GRCh37]
Chr19:48221641..48433150 [NCBI36]
Chr19:19q13.31		 benign
GRCh38/hg38 19q13.2-13.31(chr19:42850107-43237158)x1 copy number loss See cases [RCV000137003] Chr19:42850107..43237158 [GRCh38]
Chr19:43354259..43741310 [GRCh37]
Chr19:48046099..48433150 [NCBI36]
Chr19:19q13.2-13.31		 benign
GRCh38/hg38 19q13.31(chr19:42918795-43237562)x1 copy number loss See cases [RCV000138832] Chr19:42918795..43237562 [GRCh38]
Chr19:43422947..43741714 [GRCh37]
Chr19:48114787..48433554 [NCBI36]
Chr19:19q13.31		 likely benign
GRCh38/hg38 19q13.2-13.31(chr19:42738659-43237562)x1 copy number loss See cases [RCV000134871] Chr19:42738659..43237562 [GRCh38]
Chr19:43242811..43741714 [GRCh37]
Chr19:47934651..48433554 [NCBI36]
Chr19:19q13.2-13.31		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 19q13.31(chr19:43185848-43253584)x1 copy number loss See cases [RCV000136357] Chr19:43185848..43253584 [GRCh38]
Chr19:43690000..43757736 [GRCh37]
Chr19:48381840..48449576 [NCBI36]
Chr19:19q13.31		 benign
GRCh38/hg38 19q13.31(chr19:43025676-43237562)x1 copy number loss See cases [RCV000139182] Chr19:43025676..43237562 [GRCh38]
Chr19:43529828..43741714 [GRCh37]
Chr19:48221668..48433554 [NCBI36]
Chr19:19q13.31		 likely benign
GRCh38/hg38 19q13.31(chr19:42974981-43237562)x1 copy number loss See cases [RCV000142870] Chr19:42974981..43237562 [GRCh38]
Chr19:43479133..43741714 [GRCh37]
Chr19:48170973..48433554 [NCBI36]
Chr19:19q13.31		 likely benign
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3 copy number gain See cases [RCV000148245] Chr19:42738643..43237158 [GRCh38]
Chr19:43242795..43741310 [GRCh37]
Chr19:47934635..48433150 [NCBI36]
Chr19:19q13.2-13.31		 benign
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1 copy number loss See cases [RCV000148247] Chr19:42738643..43237158 [GRCh38]
Chr19:43242795..43741310 [GRCh37]
Chr19:47934635..48433150 [NCBI36]
Chr19:19q13.2-13.31		 benign
Single allele deletion Preeclampsia [RCV000161880] Chr19:43131532..43195056 [GRCh38]
Chr19:43635684..43699208 [GRCh37]
Chr19:19q13.31		 not provided
GRCh38/hg38 19q13.2-13.31(chr19:42850110-43237562)x1 copy number loss See cases [RCV000142838] Chr19:42850110..43237562 [GRCh38]
Chr19:43354262..43741714 [GRCh37]
Chr19:48046102..48433554 [NCBI36]
Chr19:19q13.2-13.31		 likely benign
Single allele deletion Normal pregnancy [RCV000161872] Chr19:43270565..43699208 [GRCh37]
Chr19:19q13.2-13.31		 not provided
Single allele deletion Normal pregnancy [RCV000161877] Chr19:43371294..43699208 [GRCh37]
Chr19:19q13.2-13.31		 not provided
Single allele deletion Gestational diabetes mellitus uncontrolled [RCV000161879] Chr19:43372386..43802290 [GRCh37]
Chr19:19q13.2-13.31		 not provided
Single allele deletion Normal pregnancy [RCV000161881] Chr19:43162545..43331618 [GRCh38]
Chr19:43666697..43835770 [GRCh37]
Chr19:19q13.31		 not provided
NC_000019.10:g.43085137G>T single nucleotide variant Lung cancer [RCV000101269] Chr19:43085137 [GRCh38]
Chr19:43589289 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
GRCh37/hg19 19q13.2-13.31(chr19:43238701-43788967)x3 copy number gain not provided [RCV000752700] Chr19:43238701..43788967 [GRCh37]
Chr19:19q13.2-13.31		 benign
GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3 copy number gain See cases [RCV000446399] Chr19:42891150..43922624 [GRCh37]
Chr19:19q13.2-13.31		 uncertain significance
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(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_002781.4(PSG5):c.299C>G (p.Thr100Arg) single nucleotide variant not specified [RCV004321511] Chr19:43184913 [GRCh38]
Chr19:43689065 [GRCh37]
Chr19:19q13.31		 uncertain significance
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
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
NM_002781.4(PSG5):c.516G>A (p.Lys172=) single nucleotide variant not provided [RCV000966074] Chr19:43176063 [GRCh38]
Chr19:43680215 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002781.4(PSG5):c.921T>C (p.Ala307=) single nucleotide variant not provided [RCV000947965] Chr19:43175258 [GRCh38]
Chr19:43679410 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002781.4(PSG5):c.65-4C>T single nucleotide variant not provided [RCV000966075] Chr19:43185151 [GRCh38]
Chr19:43689303 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002781.4(PSG5):c.95T>C (p.Ile32Thr) single nucleotide variant not specified [RCV004282481] Chr19:43185117 [GRCh38]
Chr19:43689269 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002781.4(PSG5):c.794C>G (p.Ser265Cys) single nucleotide variant not specified [RCV004302245] Chr19:43175385 [GRCh38]
Chr19:43679537 [GRCh37]
Chr19:19q13.31		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3 copy number gain not provided [RCV002472871] Chr19:43084067..44096910 [GRCh37]
Chr19:19q13.2-13.31		 uncertain significance
GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076) copy number gain not specified [RCV002052685] Chr19:43082847..44100076 [GRCh37]
Chr19:19q13.2-13.31		 uncertain significance
NM_002781.4(PSG5):c.968C>T (p.Pro323Leu) single nucleotide variant not specified [RCV004202765] Chr19:43170135 [GRCh38]
Chr19:43674287 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.659G>A (p.Arg220Gln) single nucleotide variant not specified [RCV004207673] Chr19:43175920 [GRCh38]
Chr19:43680072 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.525C>G (p.Asn175Lys) single nucleotide variant not specified [RCV004160526] Chr19:43176054 [GRCh38]
Chr19:43680206 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.510A>C (p.Glu170Asp) single nucleotide variant not specified [RCV004188198] Chr19:43176069 [GRCh38]
Chr19:43680221 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.617G>A (p.Ser206Asn) single nucleotide variant not specified [RCV004104343] Chr19:43175962 [GRCh38]
Chr19:43680114 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.222C>A (p.Asp74Glu) single nucleotide variant not specified [RCV004101825] Chr19:43184990 [GRCh38]
Chr19:43689142 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.317C>A (p.Ser106Tyr) single nucleotide variant not specified [RCV004169634] Chr19:43184895 [GRCh38]
Chr19:43689047 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.7C>A (p.Pro3Thr) single nucleotide variant not specified [RCV004222858] Chr19:43186399 [GRCh38]
Chr19:43690551 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.218T>C (p.Met73Thr) single nucleotide variant not specified [RCV004157232] Chr19:43184994 [GRCh38]
Chr19:43689146 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.496G>C (p.Ala166Pro) single nucleotide variant not specified [RCV004185959] Chr19:43176083 [GRCh38]
Chr19:43680235 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.535A>G (p.Ile179Val) single nucleotide variant not specified [RCV004177484] Chr19:43176044 [GRCh38]
Chr19:43680196 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.404C>T (p.Thr135Ile) single nucleotide variant not specified [RCV004194193] Chr19:43184808 [GRCh38]
Chr19:43688960 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.882G>T (p.Lys294Asn) single nucleotide variant not specified [RCV004160328] Chr19:43175297 [GRCh38]
Chr19:43679449 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.983G>A (p.Arg328His) single nucleotide variant not specified [RCV004226242] Chr19:43170120 [GRCh38]
Chr19:43674272 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002781.4(PSG5):c.587C>T (p.Pro196Leu) single nucleotide variant not specified [RCV004217349] Chr19:43175992 [GRCh38]
Chr19:43680144 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.536T>C (p.Ile179Thr) single nucleotide variant not specified [RCV004268943] Chr19:43176043 [GRCh38]
Chr19:43680195 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.901T>C (p.Cys301Arg) single nucleotide variant not specified [RCV004264523] Chr19:43175278 [GRCh38]
Chr19:43679430 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.31C>G (p.Gln11Glu) single nucleotide variant not specified [RCV004257357] Chr19:43186375 [GRCh38]
Chr19:43690527 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.797A>G (p.Asn266Ser) single nucleotide variant not specified [RCV004513172] Chr19:43175382 [GRCh38]
Chr19:43679534 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.239C>T (p.Thr80Ile) single nucleotide variant not specified [RCV004513168] Chr19:43184973 [GRCh38]
Chr19:43689125 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.493T>G (p.Leu165Val) single nucleotide variant not specified [RCV004513171] Chr19:43176086 [GRCh38]
Chr19:43680238 [GRCh37]
Chr19:19q13.31		 likely benign
NM_002781.4(PSG5):c.826A>T (p.Asn276Tyr) single nucleotide variant not specified [RCV004513173] Chr19:43175353 [GRCh38]
Chr19:43679505 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.380G>A (p.Arg127Gln) single nucleotide variant not specified [RCV004513169] Chr19:43184832 [GRCh38]
Chr19:43688984 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.41C>A (p.Thr14Asn) single nucleotide variant not specified [RCV004513170] Chr19:43186365 [GRCh38]
Chr19:43690517 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.917C>T (p.Ser306Leu) single nucleotide variant not specified [RCV004513174] Chr19:43175262 [GRCh38]
Chr19:43679414 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.256G>A (p.Gly86Ser) single nucleotide variant not specified [RCV004657682] Chr19:43184956 [GRCh38]
Chr19:43689108 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.829G>A (p.Gly277Arg) single nucleotide variant not specified [RCV004657683] Chr19:43175350 [GRCh38]
Chr19:43679502 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.238A>G (p.Thr80Ala) single nucleotide variant not specified [RCV004657684] Chr19:43184974 [GRCh38]
Chr19:43689126 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.58C>G (p.Leu20Val) single nucleotide variant not specified [RCV004657685] Chr19:43186348 [GRCh38]
Chr19:43690500 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.220G>A (p.Asp74Asn) single nucleotide variant not specified [RCV004347840] Chr19:43184992 [GRCh38]
Chr19:43689144 [GRCh37]
Chr19:19q13.31		 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 19q13.31(chr19:43666697-43858317)x1 copy number loss not provided [RCV000740173] Chr19:43666697..43858317 [GRCh37]
Chr19:19q13.31		 benign
GRCh37/hg19 19q13.31(chr19:43676151-43856632)x1 copy number loss not provided [RCV000740174] Chr19:43676151..43856632 [GRCh37]
Chr19:19q13.31		 benign
NM_002781.4(PSG5):c.103C>G (p.Gln35Glu) single nucleotide variant not specified [RCV004282478] Chr19:43185109 [GRCh38]
Chr19:43689261 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.563C>T (p.Pro188Leu) single nucleotide variant not specified [RCV004293343] Chr19:43176016 [GRCh38]
Chr19:43680168 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.313G>A (p.Ala105Thr) single nucleotide variant not specified [RCV004207503] Chr19:43184899 [GRCh38]
Chr19:43689051 [GRCh37]
Chr19:19q13.31		 uncertain significance
NM_002781.4(PSG5):c.35A>G (p.His12Arg) single nucleotide variant not specified [RCV004339684] Chr19:43186371 [GRCh38]
Chr19:43690523 [GRCh37]
Chr19:19q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2234
Count of miRNA genes:964
Interacting mature miRNAs:1125
Transcripts:ENST00000342951, ENST00000366175, ENST00000401942, ENST00000401992, ENST00000404580, ENST00000407356, ENST00000407568, ENST00000489220, ENST00000599214, ENST00000599812, ENST00000600817
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
406999600GWAS648576_Hcerebral microbleeds QTL GWAS648576 (human)0.0000005cerebral microbleeds194317589943175900Human
406891955GWAS540931_Hpregnancy-specific beta-1-glycoprotein 3 measurement QTL GWAS540931 (human)2e-163pregnancy-specific beta-1-glycoprotein 3 measurement194317493643174937Human
406927431GWAS576407_Hblood protein measurement QTL GWAS576407 (human)1e-16blood protein measurementblood protein measurement (CMO:0000028)194318361843183619Human
406945830GWAS594806_Hpregnancy-specific beta-1-glycoprotein 3 measurement QTL GWAS594806 (human)2e-815pregnancy-specific beta-1-glycoprotein 3 measurement194317493643174937Human
406936825GWAS585801_Hblood protein measurement QTL GWAS585801 (human)2e-259blood protein measurementblood protein measurement (CMO:0000028)194318361843183619Human
406944618GWAS593594_Hpregnancy-specific beta-1-glycoprotein 5 measurement QTL GWAS593594 (human)1e-97pregnancy-specific beta-1-glycoprotein 5 measurement194317493643174937Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406945743GWAS594719_Hblood protein measurement QTL GWAS594719 (human)3e-145blood protein measurementblood protein measurement (CMO:0000028)194318361843183619Human
406981885GWAS630861_Hblood protein measurement QTL GWAS630861 (human)3e-99blood protein measurementblood protein measurement (CMO:0000028)194318361843183619Human

Markers in Region
SHGC-36197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371943,678,511 - 43,678,612UniSTSGRCh37
GRCh371943,347,660 - 43,347,761UniSTSGRCh37
Build 361948,039,500 - 48,039,601RGDNCBI36
Celera1940,479,103 - 40,479,204UniSTS
Celera1940,148,156 - 40,148,257RGD
Cytogenetic Map19q13.2UniSTS
HuRef1939,777,335 - 39,777,436UniSTS
HuRef1940,108,203 - 40,108,304UniSTS
GeneMap99-G3 RH Map191940.0UniSTS
WI-17469  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
Whitehead-RH Map19324.0UniSTS
NCBI RH Map19470.1UniSTS
STS-T95748  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.2UniSTS
GeneMap99-GB4 RH Map19244.06UniSTS
NCBI RH Map19445.7UniSTS
RH69096  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
GeneMap99-GB4 RH Map19243.54UniSTS
NCBI RH Map19445.6UniSTS
GDB:375170  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
877 632 1038 350 3353 630 748 5 234 264 88 1803 1477 1875 23 2106 404 934 555 158

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA151017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF129398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH000859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG621332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG622527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA835167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M73713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342951   ⟹   ENSP00000344413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,167,743 - 43,186,536 (-)Ensembl
Ensembl Acc Id: ENST00000366175   ⟹   ENSP00000382334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,166,256 - 43,186,536 (-)Ensembl
Ensembl Acc Id: ENST00000401942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,167,772 - 43,170,571 (-)Ensembl
Ensembl Acc Id: ENST00000401992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,183,282 - 43,186,506 (-)Ensembl
Ensembl Acc Id: ENST00000404580   ⟹   ENSP00000385250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,174,123 - 43,186,494 (-)Ensembl
Ensembl Acc Id: ENST00000407356   ⟹   ENSP00000386008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,167,743 - 43,186,490 (-)Ensembl
Ensembl Acc Id: ENST00000407568   ⟹   ENSP00000386053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,167,743 - 43,186,494 (-)Ensembl
Ensembl Acc Id: ENST00000489220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,180,347 - 43,184,935 (-)Ensembl
Ensembl Acc Id: ENST00000599214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,168,122 - 43,170,565 (-)Ensembl
Ensembl Acc Id: ENST00000599812   ⟹   ENSP00000471866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,167,743 - 43,186,501 (-)Ensembl
Ensembl Acc Id: ENST00000600817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1943,175,663 - 43,186,494 (-)Ensembl
RefSeq Acc Id: NM_001130014   ⟹   NP_001123486
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,167,743 - 43,186,536 (-)NCBI
GRCh371943,671,895 - 43,690,688 (-)RGD
Celera1940,472,487 - 40,491,282 (-)RGD
HuRef1940,101,586 - 40,120,382 (-)RGD
CHM1_11943,673,544 - 43,692,380 (-)NCBI
T2T-CHM13v2.01945,988,311 - 46,007,149 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002781   ⟹   NP_002772
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,167,743 - 43,186,536 (-)NCBI
GRCh371943,671,895 - 43,690,688 (-)RGD
Build 361948,363,735 - 48,383,286 (-)NCBI Archive
Celera1940,472,487 - 40,491,282 (-)RGD
HuRef1940,101,586 - 40,120,382 (-)RGD
CHM1_11943,673,544 - 43,692,380 (-)NCBI
T2T-CHM13v2.01945,988,311 - 46,007,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527132   ⟹   XP_011525434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,179,868 - 43,186,536 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027003   ⟹   XP_016882492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,167,743 - 43,186,536 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054321490   ⟹   XP_054177465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,988,311 - 46,007,149 (-)NCBI
RefSeq Acc Id: XM_054321491   ⟹   XP_054177466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01946,000,431 - 46,007,149 (-)NCBI
RefSeq Acc Id: NP_002772   ⟸   NM_002781
- Peptide Label: precursor
- UniProtKB: Q96QJ1 (UniProtKB/Swiss-Prot),   Q15239 (UniProtKB/Swiss-Prot),   Q9UQ75 (UniProtKB/Swiss-Prot),   Q15238 (UniProtKB/Swiss-Prot),   E7EQY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123486   ⟸   NM_001130014
- Peptide Label: precursor
- UniProtKB: Q96QJ1 (UniProtKB/Swiss-Prot),   Q15239 (UniProtKB/Swiss-Prot),   Q9UQ75 (UniProtKB/Swiss-Prot),   Q15238 (UniProtKB/Swiss-Prot),   E7EQY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525434   ⟸   XM_011527132
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016882492   ⟸   XM_017027003
- Peptide Label: isoform X1
- UniProtKB: Q96QJ1 (UniProtKB/Swiss-Prot),   Q15239 (UniProtKB/Swiss-Prot),   Q9UQ75 (UniProtKB/Swiss-Prot),   Q15238 (UniProtKB/Swiss-Prot),   E7EQY3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000471866   ⟸   ENST00000599812
Ensembl Acc Id: ENSP00000385250   ⟸   ENST00000404580
Ensembl Acc Id: ENSP00000382334   ⟸   ENST00000366175
Ensembl Acc Id: ENSP00000386008   ⟸   ENST00000407356
Ensembl Acc Id: ENSP00000386053   ⟸   ENST00000407568
Ensembl Acc Id: ENSP00000344413   ⟸   ENST00000342951
RefSeq Acc Id: XP_054177465   ⟸   XM_054321490
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177466   ⟸   XM_054321491
- Peptide Label: isoform X2
Protein Domains
Ig-like   Ig-like C2-type   Ig-like V-type   Immunoglobulin V-set

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15238-F1-model_v2 AlphaFold Q15238 1-335 view protein structure

Promoters
RGD ID:7240211
Promoter ID:EPDNEW_H25851
Type:initiation region
Name:PSG5_1
Description:pregnancy specific beta-1-glycoprotein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,186,503 - 43,186,563EPDNEW
RGD ID:6850404
Promoter ID:EP30036
Type:single initiation site
Name:HS_PSG5
Description:Pregnancy-specific beta-1-glycoprotein 5.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 169; Human pregnancy-specific beta-1-glycoproteins
Experiment Methods:Primer extension; Nuclease protection; experiments performed with closely related; gene; Primer extension with homologous sequence ladder; experiments; performed with closely related gene
Regulation:placenta; (induced by or strongly expressed in) pregnancy
Position:
Human AssemblyChrPosition (strand)Source
Build 361948,382,530 - 48,382,590EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9522 AgrOrtholog
COSMIC PSG5 COSMIC
Ensembl Genes ENSG00000204941 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342951 ENTREZGENE
  ENST00000342951.11 UniProtKB/Swiss-Prot
  ENST00000366175.7 UniProtKB/Swiss-Prot
  ENST00000404580.1 UniProtKB/TrEMBL
  ENST00000407356 ENTREZGENE
  ENST00000407356.5 UniProtKB/Swiss-Prot
  ENST00000407568.5 UniProtKB/TrEMBL
  ENST00000599812.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204941 GTEx
HGNC ID HGNC:9522 ENTREZGENE
Human Proteome Map PSG5 Human Proteome Map
InterPro CEA_cell_adhesion UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5673 UniProtKB/Swiss-Prot
NCBI Gene 5673 ENTREZGENE
OMIM 176394 OMIM
PANTHER CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1 UniProtKB/TrEMBL
  PTHR44427:SF24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33867 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E7EQY3 ENTREZGENE, UniProtKB/TrEMBL
  E9PC55_HUMAN UniProtKB/TrEMBL
  M0R1G9_HUMAN UniProtKB/TrEMBL
  PSG5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15239 ENTREZGENE
  Q96QJ1 ENTREZGENE
  Q9UQ75 ENTREZGENE
UniProt Secondary Q15239 UniProtKB/Swiss-Prot
  Q96QJ1 UniProtKB/Swiss-Prot
  Q9UQ75 UniProtKB/Swiss-Prot