IGLV5-52 (immunoglobulin lambda variable 5-52) - Rat Genome Database

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Gene: IGLV5-52 (immunoglobulin lambda variable 5-52) Homo sapiens
Analyze
Symbol: IGLV5-52
Name: immunoglobulin lambda variable 5-52
RGD ID: 1351515
HGNC Page HGNC:5926
Description: Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. Predicted to be active in extracellular space.
Type: gene (Ensembl: IG_V_gene)
RefSeq Status: VALIDATED
Previously known as: IGLV552; V4-4
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382222,318,666 - 22,319,226 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2222,318,727 - 22,319,226 (+)EnsemblGRCh38hg38GRCh38
GRCh372222,673,021 - 22,673,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362221,003,265 - 21,003,581NCBINCBI36Build 36hg18NCBI36
Celera226,480,980 - 6,481,540 (+)NCBICelera
Cytogenetic Map22q11.22NCBI
HuRef225,631,502 - 5,632,062 (+)NCBIHuRef
CHM1_12222,673,136 - 22,673,696 (+)NCBICHM1_1
T2T-CHM13v2.02222,732,405 - 22,732,965 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

References
Additional References at PubMed
PMID:8951372   PMID:9074928   PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 copy number gain See cases [RCV000136016] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 copy number loss See cases [RCV000136017] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 copy number loss See cases [RCV000136776] Chr22:21444416..22574173 [GRCh38]
Chr22:21798705..22916612 [GRCh37]
Chr22:20128705..21246612 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 copy number gain See cases [RCV000140091] Chr22:21583391..22647760 [GRCh38]
Chr22:21937680..22990230 [GRCh37]
Chr22:20267680..21320230 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 copy number loss See cases [RCV000141561] Chr22:21447344..22655838 [GRCh38]
Chr22:21801633..22998308 [GRCh37]
Chr22:20131633..21328308 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 copy number gain See cases [RCV000142677] Chr22:21151069..22489199 [GRCh38]
Chr22:21505358..22843524 [GRCh37]
Chr22:19835358..21173524 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 copy number loss See cases [RCV000143267] Chr22:21454661..22617194 [GRCh38]
Chr22:21808950..22959664 [GRCh37]
Chr22:20138950..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000148145] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000053082] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 copy number loss See cases [RCV000053107] Chr22:21623411..22617259 [GRCh38]
Chr22:21977700..22959729 [GRCh37]
Chr22:20307700..21289729 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 copy number gain See cases [RCV000053160] Chr22:21623411..22651271 [GRCh38]
Chr22:21977700..22993741 [GRCh37]
Chr22:20307700..21323741 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 copy number loss See cases [RCV000051147] Chr22:21603122..22562663 [GRCh38]
Chr22:21957411..22905068 [GRCh37]
Chr22:20287411..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:278
Count of miRNA genes:262
Interacting mature miRNAs:278
Transcripts:ENST00000390289
Prediction methods: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.


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 pharyngeal arch
High
Medium 1699 1064 1101 157 793 17 2633 782 1842 59 1069 1116 140 785 1683
Low 620 1889 423 308 1003 286 1529 1388 1796 130 182 296 24 419 1103 1 2
Below cutoff 60 26 115 84 92 85 84 21 50 126 116 131 6 1 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390289   ⟹   ENSP00000374824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2222,318,727 - 22,319,226 (+)Ensembl
Protein Sequences
GenBank Protein A0A0A0MRZ9 (Get FASTA)   NCBI Sequence Viewer  
  BAA20017 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000374824.2
Reference Protein Sequences
RefSeq Acc Id: ENSP00000374824   ⟸   ENST00000390289
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0A0MRZ9-F1-model_v2 AlphaFold A0A0A0MRZ9 1-124 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC IGLV5-52 COSMIC
Ensembl Genes ENSG00000211643 Ensembl, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390289.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211643 GTEx
HGNC ID HGNC:5926 ENTREZGENE
Human Proteome Map IGLV5-52 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
NCBI Gene IGLV5-52 ENTREZGENE
PANTHER IMMUNOGLOBULIN LAMBDA VARIABLE 4-69-RELATED UniProtKB/Swiss-Prot
  IMMUNOGLOBULIN LIGHT CHAIN UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA35469 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGv UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt A0A0A0MRZ9 ENTREZGENE, UniProtKB/Swiss-Prot