H2BC8 (H2B clustered histone 8) - Rat Genome Database
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Gene: H2BC8 (H2B clustered histone 8) Homo sapiens
Analyze
Symbol: H2BC8
Name: H2B clustered histone 8
RGD ID: 1346575
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 A; H2B.1A; H2B/a; H2B/g; H2B/h; H2B/k; H2B/l; H2BC10; H2BC4; H2BC6; H2BC7; H2BFA; HIST1H2BC; HIST1H2BE; HIST1H2BF; HIST1H2BG; HIST1H2BI; histone 1, H2bf; histone 1, H2bg; histone 1, H2bi; histone cluster 1 H2B family member g; histone cluster 1, H2bg; 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
Mouse
Rat
Bonobo
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: H2BC16P   H2BP6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl626,215,159 - 26,216,692 (-)EnsemblGRCh38hg38GRCh38
GRCh38626,216,200 - 26,216,688 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,216,428 - 26,216,872 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,324,407 - 26,324,851 (-)NCBINCBI36hg18NCBI36
Build 34626,324,406 - 26,324,851NCBI
Celera627,445,731 - 27,446,175 (-)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,159,428 - 26,159,872 (-)NCBIHuRef
CHM1_1626,218,589 - 26,219,033 (-)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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:422550   PMID:1916825   PMID:8620898   PMID:8814229   PMID:9119399   PMID:9439656   PMID:9566873   PMID:9973324   PMID:11080476   PMID:11689053   PMID:11790298   PMID:11859126  
PMID:12408966   PMID:12477932   PMID:12757711   PMID:12860195   PMID:14574404   PMID:14595808   PMID:14657027   PMID:15019208   PMID:15161933   PMID:15489334   PMID:16283522   PMID:16307923  
PMID:16319397   PMID:16457587   PMID:16627869   PMID:16713563   PMID:16916647   PMID:18457437   PMID:20348541   PMID:20458337   PMID:21081503   PMID:21130743   PMID:21630459   PMID:21873635  
PMID:21907836   PMID:22616001   PMID:22623428   PMID:22658674   PMID:23254330   PMID:23376485   PMID:25281560   PMID:25416956   PMID:25954010   PMID:25963833   PMID:27462807   PMID:29128334  
PMID:29507755   PMID:32296183  


Genomics

Comparative Map Data
H2BC8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl626,215,159 - 26,216,692 (-)EnsemblGRCh38hg38GRCh38
GRCh38626,216,200 - 26,216,688 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,216,428 - 26,216,872 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,324,407 - 26,324,851 (-)NCBINCBI36hg18NCBI36
Build 34626,324,406 - 26,324,851NCBI
Celera627,445,731 - 27,446,175 (-)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,159,428 - 26,159,872 (-)NCBIHuRef
CHM1_1626,218,589 - 26,219,033 (-)NCBICHM1_1
H2bc8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391323,755,574 - 23,756,037 (+)NCBIGRCm39mm39
GRCm381323,571,400 - 23,571,863 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1323,571,396 - 23,572,013 (+)EnsemblGRCm38mm10GRCm38
MGSCv371323,663,269 - 23,663,883 (+)NCBIGRCm37mm9NCBIm37
MGSCv361323,578,861 - 23,579,479 (+)NCBImm8
Celera1323,803,330 - 23,803,944 (+)NCBICelera
Cytogenetic Map13A3.1NCBI
Hist1h2bl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01744,748,445 - 44,748,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1744,748,482 - 44,748,862 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01758,717,789 - 58,718,565 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41750,343,037 - 50,343,698 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11750,345,877 - 50,346,258 (+)NCBI
Celera1753,752,241 - 53,752,715 (-)NCBICelera
Cytogenetic Map17p11NCBI
LOC100985450
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1626,710,374 - 26,711,704 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl626,616,435 - 26,616,815 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl626,695,177 - 26,695,557 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl626,679,372 - 26,679,752 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl626,766,746 - 26,767,126 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0626,051,127 - 26,051,730 (-)NCBIMhudiblu_PPA_v0panPan3
LOC103222001
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11746,035,117 - 46,035,587 (+)NCBI

Position Markers
RH103679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,215,726 - 26,215,826UniSTSGRCh37
Build 36626,323,705 - 26,323,805RGDNCBI36
Celera627,445,029 - 27,445,129RGD
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef626,158,726 - 26,158,826UniSTS
GeneMap99-GB4 RH Map6105.76UniSTS
RH69155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,217,583 - 26,217,737UniSTSGRCh37
Build 36626,325,562 - 26,325,716RGDNCBI36
Celera627,446,886 - 27,447,040RGD
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef626,160,583 - 26,160,737UniSTS
GeneMap99-GB4 RH Map6105.82UniSTS
UniSTS:483215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,217,177 - 26,217,635UniSTSGRCh37
Build 36626,325,156 - 26,325,614RGDNCBI36
Celera627,446,480 - 27,446,938RGD
HuRef626,160,177 - 26,160,635UniSTS
UniSTS:483862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,216,441 - 26,216,872UniSTSGRCh37
Build 36626,324,420 - 26,324,851RGDNCBI36
Celera627,445,744 - 27,446,175RGD
HuRef626,159,441 - 26,159,872UniSTS


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
High
Medium 163 443 130 53 415 8 505 13 158 11 405 326 45 79 249
Low 1738 1959 1090 263 762 146 2016 1082 2541 91 622 870 117 561 1401
Below cutoff 310 539 197 70 6 70 1304 859 833 8 82 35 509 957

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000541790   ⟹   ENSP00000445633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl626,215,159 - 26,216,692 (-)Ensembl
RefSeq Acc Id: NM_003518   ⟹   NP_003509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,216,200 - 26,216,688 (-)NCBI
GRCh37626,216,428 - 26,216,872 (-)ENTREZGENE
Build 36626,324,407 - 26,324,851 (-)NCBI Archive
HuRef626,159,428 - 26,159,872 (-)ENTREZGENE
CHM1_1626,218,589 - 26,219,033 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003509 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA63189 (Get FASTA)   NCBI Sequence Viewer  
  AAN06690 (Get FASTA)   NCBI Sequence Viewer  
  BAG34876 (Get FASTA)   NCBI Sequence Viewer  
  EAW55545 (Get FASTA)   NCBI Sequence Viewer  
  P62807 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003509   ⟸   NM_003518
- UniProtKB: P62807 (UniProtKB/Swiss-Prot),   B2R4S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000445633   ⟸   ENST00000541790
Protein Domains
Histone


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
NM_021052.2(HIST1H2AE):c.186G>A (p.Glu62=) single nucleotide variant Malignant melanoma [RCV000061363] Chr6:26217160 [GRCh38]
Chr6:26217388 [GRCh37]
Chr6:26325367 [NCBI36]
Chr6:6p22.2
not provided
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(chr6:26178542-26670193)x3 copy number gain not provided [RCV000682657] Chr6:26178542..26670193 [GRCh37]
Chr6:6p22.2
uncertain significance
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 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(chr6:26067580-26306202)x3 copy number gain not provided [RCV000849663] Chr6:26067580..26306202 [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(chr6:25896585-26287389)x4 copy number gain not provided [RCV000845790] Chr6:25896585..26287389 [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:4746 AgrOrtholog
COSMIC H2BC8 COSMIC
Ensembl Genes ENSG00000180596 UniProtKB/Swiss-Prot
  ENSG00000273802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000274290 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 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483237 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 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614097 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:4746 ENTREZGENE
Human Proteome Map H2BC8 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 8339 ENTREZGENE
OMIM 602798 OMIM
PANTHER PTHR23428 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Histone UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29121 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.591809 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 H2BC8  H2B clustered histone 8  HIST1H2BG  histone cluster 1 H2B family member g  Symbol and/or name change 5135510 APPROVED
2016-08-23 HIST1H2BG  histone cluster 1 H2B family member g    histone cluster 1, H2bg  Symbol and/or name change 5135510 APPROVED