IGHV3-11 (immunoglobulin heavy variable 3-11) - Rat Genome Database

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Gene: IGHV3-11 (immunoglobulin heavy variable 3-11) Homo sapiens
Analyze
No known orthologs.
Symbol: IGHV3-11
Name: immunoglobulin heavy variable 3-11
RGD ID: 1347525
HGNC Page HGNC:5580
Description: Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex.
Type: gene (Ensembl: IG_V_gene)
RefSeq Status: VALIDATED
Previously known as: IGHV311; immunoglobulin heavy variable 3-11 (gene/pseudogene); VH
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: partial on reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814106,116,635 - 106,117,084 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14106,116,635 - 106,117,204 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,573,231 - 106,573,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,644,276 - 105,644,725 (-)NCBINCBI36Build 36hg18NCBI36
Celera1486,503,568 - 86,504,017 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1486,714,175 - 86,714,624 (-)NCBIHuRef
CHM1_114106,453,591 - 106,454,040 (-)NCBICHM1_1
T2T-CHM13v2.014100,388,088 - 100,388,537 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
antigen binding  (IBA,NAS)

References

References - curated
# Reference Title Reference Citation
1. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:809331   PMID:8490662   PMID:9841928   PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.33(chr14:106112755-106318409)x3 copy number gain See cases [RCV000050349] Chr14:106112755..106318409 [GRCh38]
Chr14:106538421..106774672 [GRCh37]
Chr14:105609466..105845717 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.33(chr14:105987551-106318409)x1 copy number loss See cases [RCV000133804] Chr14:105987551..106318409 [GRCh38]
Chr14:106453638..106774672 [GRCh37]
Chr14:105524683..105845717 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:106112755-106396261)x3 copy number gain See cases [RCV000133833] Chr14:106112755..106396261 [GRCh38]
Chr14:106538421..106852173 [GRCh37]
Chr14:105609466..105923218 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1 copy number loss See cases [RCV000135387] Chr14:104953508..106873666 [GRCh38]
Chr14:105419845..107281875 [GRCh37]
Chr14:104490890..106352920 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1 copy number loss See cases [RCV000135642] Chr14:105817508..106855263 [GRCh38]
Chr14:106283841..107263478 [GRCh37]
Chr14:105354886..106334523 [NCBI36]
Chr14:14q32.33		 likely benign
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 copy number loss See cases [RCV000135781] Chr14:104622881..106678844 [GRCh38]
Chr14:105017236..107134861 [GRCh37]
Chr14:104088281..106205906 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1 copy number loss See cases [RCV000135897] Chr14:105023396..106850750 [GRCh38]
Chr14:105489733..107258965 [GRCh37]
Chr14:104560778..106330010 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:106112755-106714110)x3 copy number gain See cases [RCV000136956] Chr14:106112755..106714110 [GRCh38]
Chr14:106538421..107169357 [GRCh37]
Chr14:105609466..106240402 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.33(chr14:105573256-106855263)x3 copy number gain See cases [RCV000137104] Chr14:105573256..106855263 [GRCh38]
Chr14:106252705..107263478 [GRCh37]
Chr14:105080340..106334523 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1 copy number loss See cases [RCV000138844] Chr14:105105705..106879501 [GRCh38]
Chr14:105572042..107287708 [GRCh37]
Chr14:104643087..106358753 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105786368-106879501)x1 copy number loss See cases [RCV000139075] Chr14:105786368..106879501 [GRCh38]
Chr14:106252705..107287708 [GRCh37]
Chr14:105238511..106358753 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.33(chr14:106056681-106467748)x3 copy number gain See cases [RCV000139749] Chr14:106056681..106467748 [GRCh38]
Chr14:106512914..106923671 [GRCh37]
Chr14:105583959..105994716 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 copy number loss See cases [RCV000142333] Chr14:104051258..106877229 [GRCh38]
Chr14:104517595..107285437 [GRCh37]
Chr14:103587348..106356482 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6 copy number gain See cases [RCV000142058] Chr14:105224887..106877229 [GRCh38]
Chr14:105691224..107285437 [GRCh37]
Chr14:104762269..106356482 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1 copy number loss See cases [RCV000142111] Chr14:105138612..106877229 [GRCh38]
Chr14:105604949..107285437 [GRCh37]
Chr14:104675994..106356482 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.33(chr14:105453295-106879298)x1 copy number loss See cases [RCV000142956] Chr14:105453295..106879298 [GRCh38]
Chr14:106252705..107287505 [GRCh37]
Chr14:104990677..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic|uncertain significance
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 copy number loss See cases [RCV000142803] Chr14:103823600..106879298 [GRCh38]
Chr14:104289937..107287505 [GRCh37]
Chr14:103359690..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:106112755-106318409)x1 copy number loss See cases [RCV000050351] Chr14:106112755..106318409 [GRCh38]
Chr14:106538421..106774672 [GRCh37]
Chr14:105609466..105845717 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.33(chr14:105939848-106451054)x1 copy number loss See cases [RCV000050844] Chr14:105939848..106451054 [GRCh38]
Chr14:106405703..106906960 [GRCh37]
Chr14:105476748..105978005 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.33(chr14:105987551-106259807)x1 copy number loss See cases [RCV000051186] Chr14:105987551..106259807 [GRCh38]
Chr14:106453638..106716404 [GRCh37]
Chr14:105524683..105787449 [NCBI36]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1 copy number loss See cases [RCV000051204] Chr14:105141364..106855263 [GRCh38]
Chr14:105607701..107263478 [GRCh37]
Chr14:104678746..106334523 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:429
Count of miRNA genes:394
Interacting mature miRNAs:429
Transcripts:ENST00000390601
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 2 1 3 25 1 2 11
Medium 748 389 231 230 898 85 71 8 12 66 145 596 145 79 28
Low 412 1034 655 258 693 250 882 222 313 166 493 437 7 544 460 2
Below cutoff 520 658 459 79 62 73 1193 770 962 75 393 179 7 299 793 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000390601   ⟹   ENSP00000375010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14106,116,635 - 106,117,204 (-)Ensembl
Protein Sequences
GenBank Protein BAA75053 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000375010.2
  ENSP00000488236.1
GenBank Protein P01762 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: ENSP00000375010   ⟸   ENST00000390601
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01762-F1-model_v2 AlphaFold P01762 1-117 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5580 AgrOrtholog
COSMIC IGHV3-11 COSMIC
Ensembl Genes ENSG00000211941 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000282322 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000390601.3 UniProtKB/Swiss-Prot
  ENST00000634015.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000211941 GTEx
  ENSG00000282322 GTEx
HGNC ID HGNC:5580 ENTREZGENE
Human Proteome Map IGHV3-11 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
NCBI Gene IGHV3-11 ENTREZGENE
PANTHER IMMUNOGLOBULIN HEAVY CHAIN UniProtKB/Swiss-Prot
  IMMUNOGLOBULIN HEAVY VARIABLE 3-11 UniProtKB/Swiss-Prot
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA35180 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGv UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt HV311_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A0B4J1U9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 IGHV3-11  immunoglobulin heavy variable 3-11  IGHV3-11  immunoglobulin heavy variable 3-11 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2016-04-12 IGHV3-11  immunoglobulin heavy variable 3-11 (gene/pseudogene)    immunoglobulin heavy variable 3-11  Symbol and/or name change 5135510 APPROVED