IGHV4-4 (immunoglobulin heavy variable 4-4) - Rat Genome Database

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Gene: IGHV4-4 (immunoglobulin heavy variable 4-4) Homo sapiens
Analyze
No known orthologs.
Symbol: IGHV4-4
Name: immunoglobulin heavy variable 4-4
RGD ID: 1349744
HGNC Page HGNC:5652
Description: Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in blood microparticle and plasma membrane. Predicted to be part of immunoglobulin complex.
Type: gene (Ensembl: IG_V_gene)
RefSeq Status: VALIDATED
Previously known as: IGHV44; VH
RGD Orthologs
Alliance Orthologs
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
GRCh3814106,011,922 - 106,012,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14106,011,922 - 106,012,420 (-)EnsemblGRCh38hg38GRCh38
GRCh3714106,478,108 - 106,478,539 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614105,549,153 - 105,549,584 (-)NCBINCBI36Build 36hg18NCBI36
Celera1486,407,834 - 86,408,268 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1486,613,270 - 86,621,049 (-)NCBIHuRef
CHM1_114106,348,878 - 106,349,312 (-)NCBICHM1_1
T2T-CHM13v2.014100,283,024 - 100,283,458 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
capecitabine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
antigen binding  (IBA,IEA)

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:1935893   PMID:9841928   PMID:11581315   PMID:21873635   PMID:34428256  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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(chr14:105573256-106855263)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 14q32.31-32.33(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(chr14:105939848-106451054)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:450
Count of miRNA genes:406
Interacting mature miRNAs:445
Transcripts:ENST00000390596
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 1 1 11 1 1
Medium 624 327 131 150 708 11 53 9 16 18 62 402 139 71 26
Low 417 1001 517 160 678 146 821 195 328 36 381 494 13 526 443 2
Below cutoff 518 749 462 72 88 66 1320 755 958 40 364 191 8 340 886 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000455737   ⟹   ENSP00000410711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14106,011,922 - 106,012,420 (-)Ensembl
Protein Sequences
GenBank Protein A0A075B6R2 (Get FASTA)   NCBI Sequence Viewer  
  BAA75058 (Get FASTA)   NCBI Sequence Viewer  
  CAA44022 (Get FASTA)   NCBI Sequence Viewer  
  CAC87531 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000410711.2
  ENSP00000487977.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000410711   ⟸   ENST00000455737
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A075B6R2-F1-model_v2 AlphaFold A0A075B6R2 1-117 view protein structure

Promoters
RGD ID:6791671
Promoter ID:HG_KWN:20481
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000325884
Position:
Human AssemblyChrPosition (strand)Source
Build 3614105,548,986 - 105,549,486 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5652 AgrOrtholog
COSMIC IGHV4-4 COSMIC
Ensembl Genes ENSG00000276775 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000282223 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000455737.2 UniProtKB/Swiss-Prot
  ENST00000631379.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000276775 GTEx
  ENSG00000282223 GTEx
HGNC ID HGNC:5652 ENTREZGENE
Human Proteome Map IGHV4-4 Human Proteome Map
InterPro 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_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene IGHV4-4 ENTREZGENE
PANTHER IMMUNOGLOBULIN HEAVY CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IMMUNOGLOBULIN HEAVY VARIABLE 4-4 UniProtKB/Swiss-Prot
  IMMUNOGLOBULIN HEAVY VARIABLE 4-4 UniProtKB/TrEMBL
  IMMUNOGLOBULIN HEAVY VARIABLE 4-4 UniProtKB/TrEMBL
Pfam V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35249 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6R2 ENTREZGENE
  A0A0F7TC28_HUMAN UniProtKB/TrEMBL
  A0A8D7ZS23_HUMAN UniProtKB/TrEMBL
  HV404_HUMAN UniProtKB/Swiss-Prot