GLDN (gliomedin) - Rat Genome Database

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Gene: GLDN (gliomedin) Homo sapiens
Analyze
Symbol: GLDN
Name: gliomedin
RGD ID: 1344164
HGNC Page HGNC
Description: Predicted to enable protein binding activity involved in heterotypic cell-cell adhesion. Predicted to act upstream of or within clustering of voltage-gated sodium channels; heterotypic cell-cell adhesion; and microvillus organization. Located in cell surface. Implicated in lethal congenital contracture syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CLOM; collomin; COLM; colmedin; CRG-L2; CRGL2; FLJ23917; LCCS11; UNC-112; UNC-122
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38.p13 Ensembl1551,341,655 - 51,408,005 (+)EnsemblGRCh38hg38GRCh38
GRCh381551,341,655 - 51,413,365 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371551,633,852 - 51,700,197 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361549,421,005 - 49,487,502 (+)NCBINCBI36hg18NCBI36
Build 341549,456,746 - 49,487,493NCBI
Celera1528,527,112 - 28,593,608 (+)NCBI
Cytogenetic Map15q21.2NCBI
HuRef1528,463,790 - 28,530,158 (+)NCBIHuRef
CHM1_11551,751,822 - 51,818,321 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:14702039   PMID:16039564   PMID:17293346   PMID:17485493   PMID:22009740   PMID:22462667   PMID:24049095   PMID:25283719   PMID:25372825   PMID:25525261  
PMID:27616481   PMID:28726266   PMID:32812332  


Genomics

Comparative Map Data
GLDN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1551,341,655 - 51,408,005 (+)EnsemblGRCh38hg38GRCh38
GRCh381551,341,655 - 51,413,365 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371551,633,852 - 51,700,197 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361549,421,005 - 49,487,502 (+)NCBINCBI36hg18NCBI36
Build 341549,456,746 - 49,487,493NCBI
Celera1528,527,112 - 28,593,608 (+)NCBI
Cytogenetic Map15q21.2NCBI
HuRef1528,463,790 - 28,530,158 (+)NCBIHuRef
CHM1_11551,751,822 - 51,818,321 (+)NCBICHM1_1
Gldn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39954,193,770 - 54,249,061 (+)NCBIGRCm39mm39
GRCm39 Ensembl954,193,770 - 54,249,070 (+)Ensembl
GRCm38954,286,486 - 54,341,777 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl954,286,486 - 54,341,786 (+)EnsemblGRCm38mm10GRCm38
MGSCv37954,134,293 - 54,189,584 (+)NCBIGRCm37mm9NCBIm37
MGSCv36954,084,623 - 54,139,914 (+)NCBImm8
Celera951,528,874 - 51,584,044 (+)NCBICelera
Cytogenetic Map9A5.3NCBI
Gldn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2854,679,015 - 54,723,198 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl854,679,119 - 54,723,196 (+)Ensembl
Rnor_6.0858,870,516 - 58,914,605 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl858,870,516 - 58,914,603 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0857,446,589 - 57,490,039 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4857,793,743 - 57,839,274 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1857,812,796 - 57,858,326 (+)NCBI
Celera854,170,014 - 54,213,952 (+)NCBICelera
Cytogenetic Map8q24NCBI
Gldn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554093,128,684 - 3,179,083 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554093,128,718 - 3,179,083 (-)NCBIChiLan1.0ChiLan1.0
GLDN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11548,619,479 - 48,685,616 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1548,619,452 - 48,685,616 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01530,285,743 - 30,352,403 (+)NCBIMhudiblu_PPA_v0panPan3
GLDN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13017,082,380 - 17,145,424 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3017,082,380 - 17,141,871 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3017,008,985 - 17,072,406 (+)NCBI
ROS_Cfam_1.03017,227,724 - 17,291,383 (+)NCBI
UMICH_Zoey_3.13017,149,902 - 17,213,517 (+)NCBI
UNSW_CanFamBas_1.03017,267,679 - 17,331,094 (+)NCBI
UU_Cfam_GSD_1.03017,374,148 - 17,437,602 (+)NCBI
Gldn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864095,386,415 - 95,446,073 (+)NCBI
SpeTri2.0NW_00493647113,234,478 - 13,294,306 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLDN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1120,322,432 - 120,399,041 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11120,322,417 - 120,399,059 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21133,470,298 - 133,608,821 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GLDN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12631,966,166 - 32,034,236 (-)NCBI
ChlSab1.1 Ensembl2631,966,961 - 32,034,016 (-)Ensembl
Vero_WHO_p1.0NW_023666048109,159,549 - 109,230,131 (+)NCBI
Gldn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247318,882,199 - 8,942,083 (-)NCBI

Position Markers
WI-14763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,700,034 - 51,700,159UniSTSGRCh37
Build 361549,487,326 - 49,487,451RGDNCBI36
Celera1528,593,432 - 28,593,557RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,529,982 - 28,530,107UniSTS
GeneMap99-GB4 RH Map15178.53UniSTS
Whitehead-RH Map15150.2UniSTS
RH98759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,677,513 - 51,677,724UniSTSGRCh37
Build 361549,464,805 - 49,465,016RGDNCBI36
Celera1528,570,911 - 28,571,122RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,507,504 - 28,507,715UniSTS
GeneMap99-GB4 RH Map15178.2UniSTS
SHGC-84163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,660,867 - 51,661,153UniSTSGRCh37
Build 361549,448,159 - 49,448,445RGDNCBI36
Celera1528,554,266 - 28,554,552RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,490,858 - 28,491,144UniSTS
TNG Radiation Hybrid Map1516324.0UniSTS
SHGC-145291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,632,491 - 51,632,776UniSTSGRCh37
Build 361549,419,783 - 49,420,068RGDNCBI36
Celera1528,525,890 - 28,526,175RGD
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q21.2UniSTS
HuRef1528,462,568 - 28,462,853UniSTS
TNG Radiation Hybrid Map1516307.0UniSTS
A009F18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,674,469 - 51,674,587UniSTSGRCh37
Build 361549,461,761 - 49,461,879RGDNCBI36
Celera1528,567,868 - 28,567,986RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,504,461 - 28,504,579UniSTS
GeneMap99-GB4 RH Map15178.75UniSTS
D15S1204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,684,138 - 51,684,312UniSTSGRCh37
Build 361549,471,430 - 49,471,604RGDNCBI36
Celera1528,577,536 - 28,577,710RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,514,129 - 28,514,303UniSTS
Whitehead-RH Map15147.9UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15258.5UniSTS
RH44883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,645,760 - 51,645,864UniSTSGRCh37
Build 361549,433,052 - 49,433,156RGDNCBI36
Celera1528,539,160 - 28,539,264RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,475,824 - 28,475,928UniSTS
GeneMap99-GB4 RH Map15180.5UniSTS
G32505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,674,469 - 51,674,587UniSTSGRCh37
Celera1528,567,868 - 28,567,986UniSTS
Cytogenetic Map15q21.2UniSTS
HuRef1528,504,461 - 28,504,579UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3985
Count of miRNA genes:1162
Interacting mature miRNAs:1434
Transcripts:ENST00000335449, ENST00000396399, ENST00000464150, ENST00000558286, ENST00000558426, ENST00000559317, ENST00000560215, ENST00000560690, ENST00000561194
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


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 25 1109 17 9 13 9 1811 16 1289 25 28 266 636 1325 1
Low 1904 1113 1088 216 526 77 1895 1535 2235 140 949 1100 148 567 974 4
Below cutoff 483 746 555 354 901 335 603 625 183 216 418 180 23 1 489

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK001262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX101284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335449   ⟹   ENSP00000335196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,341,655 - 51,408,000 (+)Ensembl
RefSeq Acc Id: ENST00000396399   ⟹   ENSP00000379681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,377,258 - 51,408,005 (+)Ensembl
RefSeq Acc Id: ENST00000464150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,377,258 - 51,385,552 (+)Ensembl
RefSeq Acc Id: ENST00000558286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,341,874 - 51,384,634 (+)Ensembl
RefSeq Acc Id: ENST00000558426   ⟹   ENSP00000453433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,377,352 - 51,400,211 (+)Ensembl
RefSeq Acc Id: ENST00000559317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,360,254 - 51,384,414 (+)Ensembl
RefSeq Acc Id: ENST00000560215   ⟹   ENSP00000484633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,341,798 - 51,385,552 (+)Ensembl
RefSeq Acc Id: ENST00000560690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,341,946 - 51,384,633 (+)Ensembl
RefSeq Acc Id: ENST00000561194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,377,348 - 51,384,222 (+)Ensembl
RefSeq Acc Id: ENST00000612989   ⟹   ENSP00000479249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1551,377,456 - 51,405,244 (+)Ensembl
RefSeq Acc Id: NM_001330297   ⟹   NP_001317226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,377,261 - 51,408,000 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181789   ⟹   NP_861454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,341,655 - 51,408,000 (+)NCBI
GRCh371551,633,713 - 51,700,210 (+)RGD
Build 361549,421,005 - 49,487,502 (+)NCBI Archive
Celera1528,527,112 - 28,593,608 (+)RGD
HuRef1528,463,790 - 28,530,158 (+)ENTREZGENE
CHM1_11551,751,822 - 51,818,321 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521501   ⟹   XP_011519803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,366,838 - 51,408,003 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022121   ⟹   XP_016877610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,341,655 - 51,408,003 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022122   ⟹   XP_016877611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,359,973 - 51,408,003 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022124   ⟹   XP_016877613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,341,946 - 51,408,003 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022125   ⟹   XP_016877614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,341,655 - 51,413,365 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022126   ⟹   XP_016877615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,341,946 - 51,413,365 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_861454   ⟸   NM_181789
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6ZMI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519803   ⟸   XM_011521501
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016877614   ⟸   XM_017022125
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016877610   ⟸   XM_017022121
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016877615   ⟸   XM_017022126
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016877613   ⟸   XM_017022124
- Peptide Label: isoform X3
- UniProtKB: Q6ZMI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016877611   ⟸   XM_017022122
- Peptide Label: isoform X3
- UniProtKB: Q6ZMI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317226   ⟸   NM_001330297
- Peptide Label: isoform 2
- UniProtKB: Q6ZMI3 (UniProtKB/Swiss-Prot),   Q14DE1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000453433   ⟸   ENST00000558426
RefSeq Acc Id: ENSP00000335196   ⟸   ENST00000335449
RefSeq Acc Id: ENSP00000479249   ⟸   ENST00000612989
RefSeq Acc Id: ENSP00000484633   ⟸   ENST00000560215
RefSeq Acc Id: ENSP00000379681   ⟸   ENST00000396399
Protein Domains
Collagen-like   Olfactomedin-like

Promoters
RGD ID:7229493
Promoter ID:EPDNEW_H20492
Type:initiation region
Name:GLDN_2
Description:gliomedin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20487  EPDNEW_H20493  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,341,898 - 51,341,958EPDNEW
RGD ID:7229495
Promoter ID:EPDNEW_H20493
Type:initiation region
Name:GLDN_1
Description:gliomedin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20487  EPDNEW_H20492  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,377,348 - 51,377,408EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181789.4(GLDN):c.1436G>C (p.Arg479Pro) single nucleotide variant not provided [RCV000522202] Chr15:51404534 [GRCh38]
Chr15:51696731 [GRCh37]
Chr15:15q21.2
likely pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3
pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] Chr15:48695331..53923002 [GRCh38]
Chr15:48987528..54215199 [GRCh37]
Chr15:46774820..52002491 [NCBI36]
Chr15:15q21.1-21.3
pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2
pathogenic
NM_181789.2(GLDN):c.354C>T (p.Ser118=) single nucleotide variant Malignant melanoma [RCV000070816] Chr15:51342038 [GRCh38]
Chr15:51634235 [GRCh37]
Chr15:49421527 [NCBI36]
Chr15:15q21.2
not provided
NM_181789.2(GLDN):c.688+793A>C single nucleotide variant Lung cancer [RCV000099541] Chr15:51395774 [GRCh38]
Chr15:51687971 [GRCh37]
Chr15:15q21.2
uncertain significance
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2
pathogenic
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3
pathogenic
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV000258820] Chr15:51404521 [GRCh38]
Chr15:51696718 [GRCh37]
Chr15:15q21.2
pathogenic|not provided
NM_181789.4(GLDN):c.541+1G>A single nucleotide variant Lethal congenital contracture syndrome 11 [RCV000258824] Chr15:51383893 [GRCh38]
Chr15:51676090 [GRCh37]
Chr15:15q21.2
pathogenic|not provided
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV000258834] Chr15:51341779 [GRCh38]
Chr15:51633976 [GRCh37]
Chr15:15q21.2
pathogenic|likely pathogenic|not provided
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV000258837] Chr15:51404533 [GRCh38]
Chr15:51696730 [GRCh37]
Chr15:15q21.2
pathogenic|not provided
NM_181789.4(GLDN):c.758del (p.Pro253fs) deletion Lethal congenital contracture syndrome 11 [RCV000258844] Chr15:51397535 [GRCh38]
Chr15:51689732 [GRCh37]
Chr15:15q21.2
pathogenic|not provided
NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV000258845]|Polyhydramnios [RCV001257373] Chr15:51404338 [GRCh38]
Chr15:51696535 [GRCh37]
Chr15:15q21.2
pathogenic|not provided
NM_181789.4(GLDN):c.1179-2A>G single nucleotide variant not provided [RCV000520241] Chr15:51404275 [GRCh38]
Chr15:51696472 [GRCh37]
Chr15:15q21.2
likely pathogenic
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 copy number loss not provided [RCV001270659] Chr15:48744917..53851050 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu) single nucleotide variant Fetal akinesia sequence [RCV000855464]|not provided [RCV000524042] Chr15:51404526 [GRCh38]
Chr15:51696723 [GRCh37]
Chr15:15q21.2
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q21.2(chr15:50870407-51764302)x3 copy number gain See cases [RCV000510773] Chr15:50870407..51764302 [GRCh37]
Chr15:15q21.2
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) single nucleotide variant Flexion contracture [RCV000627012]|Lethal congenital contracture syndrome 11 [RCV000578440]|Polyhydramnios [RCV000627011] Chr15:51404403 [GRCh38]
Chr15:51696600 [GRCh37]
Chr15:15q21.2
pathogenic|likely pathogenic
NM_181789.4(GLDN):c.330del (p.Asp110fs) deletion not provided [RCV000627466] Chr15:51342014 [GRCh38]
Chr15:51634211 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.931G>A (p.Val311Met) single nucleotide variant not provided [RCV000658716] Chr15:51400402 [GRCh38]
Chr15:51692599 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_181789.4(GLDN):c.269C>T (p.Ala90Val) single nucleotide variant not provided [RCV000658715] Chr15:51341953 [GRCh38]
Chr15:51634150 [GRCh37]
Chr15:15q21.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3
pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3
pathogenic
GRCh37/hg19 15q21.2(chr15:51673125-51942596)x1 copy number loss not provided [RCV000709940] Chr15:51673125..51942596 [GRCh37]
Chr15:15q21.2
not provided
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_181789.4(GLDN):c.689-2A>C single nucleotide variant not provided [RCV000884055] Chr15:51397468 [GRCh38]
Chr15:51689665 [GRCh37]
Chr15:15q21.2
pathogenic|likely benign
NM_181789.4(GLDN):c.95C>G (p.Ala32Gly) single nucleotide variant not provided [RCV000995359] Chr15:51341779 [GRCh38]
Chr15:51633976 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_181789.4(GLDN):c.86T>C (p.Leu29Pro) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV000995555] Chr15:51341770 [GRCh38]
Chr15:51633967 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.980_981del (p.Ser327fs) deletion Lethal congenital contracture syndrome 11 [RCV001089948] Chr15:51400450..51400451 [GRCh38]
Chr15:51692647..51692648 [GRCh37]
Chr15:15q21.2
pathogenic
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) single nucleotide variant Fetal akinesia sequence [RCV000855463]|Fetal akinesia sequence [RCV001004064]|Lethal congenital contracture syndrome 11 [RCV001530480] Chr15:51401743 [GRCh38]
Chr15:51693940 [GRCh37]
Chr15:15q21.2
likely pathogenic|uncertain significance
NM_181789.4(GLDN):c.468C>T (p.Asn156=) single nucleotide variant not provided [RCV000970487] Chr15:51383819 [GRCh38]
Chr15:51676016 [GRCh37]
Chr15:15q21.2
benign
NM_181789.4(GLDN):c.657A>G (p.Lys219=) single nucleotide variant not provided [RCV000930395] Chr15:51394950 [GRCh38]
Chr15:51687147 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 copy number loss not provided [RCV000848123] Chr15:50083229..53439931 [GRCh37]
Chr15:15q21.2-21.3
uncertain significance
NM_181789.4(GLDN):c.102G>C (p.Thr34=) single nucleotide variant not provided [RCV000979314] Chr15:51341786 [GRCh38]
Chr15:51633983 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2
pathogenic
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV001530479] Chr15:51341766 [GRCh38]
Chr15:51633963 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.419C>T (p.Pro140Leu) single nucleotide variant not provided [RCV000901723] Chr15:51383439 [GRCh38]
Chr15:51675636 [GRCh37]
Chr15:15q21.2
likely benign
NM_181789.4(GLDN):c.18G>A (p.Glu6=) single nucleotide variant not provided [RCV000982402] Chr15:51341702 [GRCh38]
Chr15:51633899 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q21.2(chr15:51652815-51708029)x1 copy number loss not provided [RCV001006689] Chr15:51652815..51708029 [GRCh37]
Chr15:15q21.2
uncertain significance
GRCh37/hg19 15q21.2(chr15:51630691-51891698)x3 copy number gain not provided [RCV001006688] Chr15:51630691..51891698 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_181789.4(GLDN):c.363+1G>A single nucleotide variant Lethal congenital contracture syndrome 11 [RCV001004896] Chr15:51342048 [GRCh38]
Chr15:51634245 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_181789.4(GLDN):c.385_392del (p.Cys129fs) deletion Lethal congenital contracture syndrome 11 [RCV001172314] Chr15:51377469..51377476 [GRCh38]
Chr15:51669666..51669673 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV001004895] Chr15:51341743 [GRCh38]
Chr15:51633940 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe) single nucleotide variant Fetal akinesia sequence [RCV001004060] Chr15:51401658 [GRCh38]
Chr15:51693855 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.1028-2A>T single nucleotide variant Lethal congenital contracture syndrome 11 [RCV001251182] Chr15:51401591 [GRCh38]
Chr15:51693788 [GRCh37]
Chr15:15q21.2
likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_181789.4(GLDN):c.689-121_689-120insTCCT insertion not provided [RCV001540398] Chr15:51397346..51397347 [GRCh38]
Chr15:51689543..51689544 [GRCh37]
Chr15:15q21.2
benign
NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser) single nucleotide variant Polyhydramnios [RCV001257374] Chr15:51400498 [GRCh38]
Chr15:51692695 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_181789.4(GLDN):c.968G>A (p.Trp323Ter) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV001337124] Chr15:51400439 [GRCh38]
Chr15:51692636 [GRCh37]
Chr15:15q21.2
pathogenic
NM_181789.4(GLDN):c.314G>A (p.Arg105His) single nucleotide variant Lethal congenital contracture syndrome 11 [RCV001328807] Chr15:51341998 [GRCh38]
Chr15:51634195 [GRCh37]
Chr15:15q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29514 AgrOrtholog
COSMIC GLDN COSMIC
Ensembl Genes ENSG00000186417 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335196 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379681 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453433 UniProtKB/TrEMBL
  ENSP00000479249 UniProtKB/Swiss-Prot
  ENSP00000484633 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396399 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000558426 UniProtKB/TrEMBL
  ENST00000560215 UniProtKB/TrEMBL
  ENST00000612989 UniProtKB/Swiss-Prot
GTEx ENSG00000186417 GTEx
HGNC ID HGNC:29514 ENTREZGENE
Human Proteome Map GLDN Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gliomedin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:342035 UniProtKB/Swiss-Prot
NCBI Gene 342035 ENTREZGENE
OMIM 608603 OMIM
  617194 OMIM
PANTHER PTHR23192:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134882405 PharmGKB
PROSITE OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X220_HUMAN UniProtKB/TrEMBL
  GLDN_HUMAN UniProtKB/Swiss-Prot
  H0YM22_HUMAN UniProtKB/TrEMBL
  Q14DE1 ENTREZGENE, UniProtKB/TrEMBL
  Q6ZMI3 ENTREZGENE
UniProt Secondary Q6UXZ7 UniProtKB/Swiss-Prot
  Q7Z359 UniProtKB/Swiss-Prot