H2BC6 (H2B clustered histone 6) - Rat Genome Database
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Gene: H2BC6 (H2B clustered histone 6) Homo sapiens
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Symbol: H2BC6
Name: H2B clustered histone 6
RGD ID: 1350317
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and defense response to other organism. Localizes to cytosol; extracellular space; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dJ221C16.8; H2B histone family, member H; H2B.h; H2B/a; H2B/g; H2B/h; H2B/k; H2B/l; H2BC10; H2BC4; H2BC7; H2BC8; H2BFH; H2BFN; HIST1H2BC; HIST1H2BE; HIST1H2BF; HIST1H2BG; HIST1H2BI; histone 1, H2be; histone cluster 1 H2B family member e; histone cluster 1, H2be; histone H2B type 1-C/E/F/G/I; histone H2B.1 A; histone H2B.a; histone H2B.g; histone H2B.h; histone H2B.k; histone H2B.l
RGD Orthologs
Bonobo
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 Ensembl626,172,059 - 26,184,655 (+)EnsemblGRCh38hg38GRCh38
GRCh38626,183,761 - 26,184,230 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,184,024 - 26,184,458 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,292,003 - 26,292,437 (+)NCBINCBI36hg18NCBI36
Build 34626,292,002 - 26,292,437NCBI
Celera627,413,325 - 27,413,759 (+)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,127,029 - 26,127,463 (+)NCBIHuRef
CHM1_1626,186,226 - 26,186,660 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Pipeline to import KEGG annotations from KEGG into RGD
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:422550   PMID:1768865   PMID:9119399   PMID:9439656   PMID:9566873   PMID:11080476   PMID:11689053   PMID:12408966   PMID:12477932   PMID:12757711   PMID:12860195   PMID:14574404  
PMID:14657027   PMID:15489334   PMID:16283522   PMID:16307923   PMID:16319397   PMID:16627869   PMID:16713563   PMID:16916647   PMID:20348541   PMID:20458337   PMID:21081503   PMID:21630459  
PMID:21873635   PMID:21907836   PMID:22623428   PMID:23376485   PMID:23463506   PMID:24162774   PMID:25416956   PMID:25954010   PMID:25963833   PMID:27462807   PMID:29128334   PMID:32296183  


Genomics

Comparative Map Data
H2BC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl626,172,059 - 26,184,655 (+)EnsemblGRCh38hg38GRCh38
GRCh38626,183,761 - 26,184,230 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,184,024 - 26,184,458 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,292,003 - 26,292,437 (+)NCBINCBI36hg18NCBI36
Build 34626,292,002 - 26,292,437NCBI
Celera627,413,325 - 27,413,759 (+)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,127,029 - 26,127,463 (+)NCBIHuRef
CHM1_1626,186,226 - 26,186,660 (+)NCBICHM1_1
LOC100981885
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1626,679,314 - 26,679,824 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl626,679,372 - 26,679,752 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0626,017,776 - 26,019,904 (+)NCBIMhudiblu_PPA_v0panPan3

Position Markers
HIST1H2BE_8795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,184,127 - 26,184,656UniSTSGRCh37
Build 36626,292,106 - 26,292,635RGDNCBI36
Celera627,413,428 - 27,413,957RGD
HuRef626,127,132 - 26,127,661UniSTS
RH47052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,184,391 - 26,184,525UniSTSGRCh37
Build 36626,292,370 - 26,292,504RGDNCBI36
Celera627,413,692 - 27,413,826RGD
Cytogenetic Map6p22.1UniSTS
HuRef626,127,396 - 26,127,530UniSTS
GeneMap99-GB4 RH Map6105.5UniSTS
UniSTS:481659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,184,024 - 26,184,454UniSTSGRCh37
Build 36626,292,003 - 26,292,433RGDNCBI36
Celera627,413,325 - 27,413,755RGD
HuRef626,127,029 - 26,127,459UniSTS
UniSTS:485580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,183,958 - 26,184,454UniSTSGRCh37
Build 36626,291,937 - 26,292,433RGDNCBI36
Celera627,413,259 - 27,413,755RGD
HuRef626,126,963 - 26,127,459UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000614097   ⟹   ENSP00000483237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl626,183,761 - 26,184,230 (+)Ensembl
RefSeq Acc Id: ENST00000634910   ⟹   ENSP00000489317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl626,172,059 - 26,184,655 (+)Ensembl
RefSeq Acc Id: NM_003523   ⟹   NP_003514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,183,761 - 26,184,230 (+)NCBI
GRCh37626,184,024 - 26,184,458 (+)RGD
Build 36626,292,003 - 26,292,437 (+)NCBI Archive
Celera627,413,325 - 27,413,759 (+)RGD
HuRef626,127,029 - 26,127,463 (+)RGD
CHM1_1626,186,226 - 26,186,660 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003514   ⟸   NM_003523
- UniProtKB: P62807 (UniProtKB/Swiss-Prot),   B2R4S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000489317   ⟸   ENST00000634910
RefSeq Acc Id: ENSP00000483237   ⟸   ENST00000614097
Protein Domains
Histone

Promoters
RGD ID:6804306
Promoter ID:HG_KWN:52583
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356530
Position:
Human AssemblyChrPosition (strand)Source
Build 36626,291,856 - 26,292,356 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33
pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3 copy number gain See cases [RCV000139521] Chr6:25991402..26280693 [GRCh38]
Chr6:25991630..26280921 [GRCh37]
Chr6:26099609..26388900 [NCBI36]
Chr6:6p22.2
likely benign
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4 copy number gain Ductal breast carcinoma [RCV000207323] Chr6:26104332..26365573 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:25839165-26536884)x4 copy number gain See cases [RCV000447433] Chr6:25839165..26536884 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3 copy number gain not provided [RCV000682656] Chr6:25851789..26319486 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3 copy number gain not provided [RCV000682657] Chr6:26178542..26670193 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p22.2(chr6:26110314-26338056)x3 copy number gain not provided [RCV000745546] Chr6:26110314..26338056 [GRCh37]
Chr6:6p22.2
benign
GRCh37/hg19 6p22.2(chr6:26110961-26219744)x3 copy number gain not provided [RCV000745547] Chr6:26110961..26219744 [GRCh37]
Chr6:6p22.2
benign
GRCh37/hg19 6p22.2(chr6:26145158-26245236)x3 copy number gain not provided [RCV000745549] Chr6:26145158..26245236 [GRCh37]
Chr6:6p22.2
benign
GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4 copy number gain not provided [RCV000845790] Chr6:25896585..26287389 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:26067580-26306202)x3 copy number gain not provided [RCV000849663] Chr6:26067580..26306202 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:26067079-26207758)x1 copy number loss not provided [RCV000849592] Chr6:26067079..26207758 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:25996066-26303969)x3 copy number gain not provided [RCV000847447] Chr6:25996066..26303969 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3 copy number gain not provided [RCV001258882] Chr6:26046566..26670193 [GRCh37]
Chr6:6p22.2
uncertain significance
GRCh37/hg19 6p22.2(chr6:26090243-26265667)x3 copy number gain not provided [RCV001258883] Chr6:26090243..26265667 [GRCh37]
Chr6:6p22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4753 AgrOrtholog
COSMIC H2BC6 COSMIC
Ensembl Genes ENSG00000180596 UniProtKB/Swiss-Prot
  ENSG00000273802 UniProtKB/Swiss-Prot
  ENSG00000274290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000277224 UniProtKB/Swiss-Prot
  ENSG00000278588 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000321744 UniProtKB/Swiss-Prot
  ENSP00000348924 UniProtKB/Swiss-Prot
  ENSP00000366962 UniProtKB/Swiss-Prot
  ENSP00000380180 UniProtKB/Swiss-Prot
  ENSP00000445633 UniProtKB/Swiss-Prot
  ENSP00000483237 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489317 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314332 UniProtKB/Swiss-Prot
  ENST00000356530 UniProtKB/Swiss-Prot
  ENST00000377733 UniProtKB/Swiss-Prot
  ENST00000396984 UniProtKB/Swiss-Prot
  ENST00000541790 UniProtKB/Swiss-Prot
  ENST00000614097 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000634910 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180596 GTEx
  ENSG00000273802 GTEx
  ENSG00000274290 GTEx
  ENSG00000277224 GTEx
  ENSG00000278588 GTEx
HGNC ID HGNC:4753 ENTREZGENE
Human Proteome Map H2BC6 Human Proteome Map
InterPro Histone-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone_H2A/H2B/H3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone_H2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3017 UniProtKB/Swiss-Prot
  hsa:8339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8343 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8344 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8346 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:8347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8344 ENTREZGENE
OMIM 602805 OMIM
PANTHER PTHR23428 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Histone UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29128 PharmGKB
PRINTS HISTONEH2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HISTONE_H2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART H2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.534369 ENTREZGENE
UniProt B2R4S9 ENTREZGENE, UniProtKB/TrEMBL
  H2B1C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary P02278 UniProtKB/Swiss-Prot
  Q3B872 UniProtKB/Swiss-Prot
  Q4VB69 UniProtKB/Swiss-Prot
  Q93078 UniProtKB/Swiss-Prot
  Q93080 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 H2BC6  H2B clustered histone 6  HIST1H2BE  histone cluster 1 H2B family member e  Symbol and/or name change 5135510 APPROVED
2016-08-23 HIST1H2BE  histone cluster 1 H2B family member e  HIST1H2BE  histone cluster 1, H2be  Symbol and/or name change 5135510 APPROVED