H2BC7 (H2B clustered histone 7) - Rat Genome Database
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Gene: H2BC7 (H2B clustered histone 7) Homo sapiens
Analyze
Symbol: H2BC7
Name: H2B clustered histone 7
RGD ID: 1346859
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: H2B histone family, member G; H2B/a; H2B/g; H2B/h; H2B/k; H2B/l; H2BC10; H2BC4; H2BC6; H2BC8; H2BFG; HIST1H2BC; HIST1H2BE; HIST1H2BF; HIST1H2BG; HIST1H2BI; histone 1, H2bf; histone cluster 1 H2B family member f; histone cluster 1, H2bf; 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
Dog
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 Ensembl626,199,520 - 26,200,715 (+)EnsemblGRCh38hg38GRCh38
GRCh38626,199,516 - 26,199,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,199,787 - 26,200,216 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,307,766 - 26,308,195 (+)NCBINCBI36hg18NCBI36
Build 34626,307,765 - 26,308,195NCBI
Celera627,429,090 - 27,429,519 (+)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,142,791 - 26,143,220 (+)NCBIHuRef
CHM1_1626,201,968 - 26,202,397 (+)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:9119399   PMID:9439656   PMID:9566873   PMID:10064132   PMID:11080476   PMID:11689053   PMID:12408966   PMID:12477932   PMID:12860195   PMID:14657027   PMID:20348541  
PMID:20458337   PMID:20881960   PMID:21081503   PMID:21630459   PMID:21873635   PMID:21907836   PMID:22623428   PMID:23376485   PMID:23563607   PMID:25416956   PMID:25429064   PMID:25954010  
PMID:25963833   PMID:27462807   PMID:29128334   PMID:29507755   PMID:32296183  


Genomics

Comparative Map Data
H2BC7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl626,199,520 - 26,200,715 (+)EnsemblGRCh38hg38GRCh38
GRCh38626,199,516 - 26,199,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,199,787 - 26,200,216 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,307,766 - 26,308,195 (+)NCBINCBI36hg18NCBI36
Build 34626,307,765 - 26,308,195NCBI
Celera627,429,090 - 27,429,519 (+)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,142,791 - 26,143,220 (+)NCBIHuRef
CHM1_1626,201,968 - 26,202,397 (+)NCBICHM1_1
H2bc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391323,767,653 - 23,805,107 (-)NCBIGRCm39mm39
GRCm381323,583,670 - 23,621,124 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1323,583,670 - 23,621,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv371323,675,539 - 23,712,993 (-)NCBIGRCm37mm9NCBIm37
MGSCv361323,591,206 - 23,628,589 (-)NCBImm8
Celera1323,815,585 - 23,852,605 (-)NCBICelera
Cytogenetic Map13A3.1NCBI
Hist1h2bq
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01743,679,925 - 43,689,311 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1743,679,925 - 43,689,311 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01745,534,129 - 45,542,936 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41748,449,574 - 48,459,325 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11748,452,496 - 48,462,010 (+)NCBI
Celera1741,064,490 - 41,073,875 (-)NCBICelera
Cytogenetic Map17p11NCBI
LOC100979846
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1626,695,113 - 26,696,330 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl626,695,177 - 26,695,557 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0626,034,782 - 26,036,003 (+)NCBIMhudiblu_PPA_v0panPan3
H2BC5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3525,006,510 - 25,006,890 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3524,131,296 - 24,131,676 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3525,061,555 - 25,061,935 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3524,178,933 - 24,179,313 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3524,066,399 - 24,066,779 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3524,999,692 - 25,000,072 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13524,093,447 - 24,102,443 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1

Position Markers
RH66549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,200,445 - 26,200,566UniSTSGRCh37
Build 36626,308,424 - 26,308,545RGDNCBI36
Celera627,429,748 - 27,429,869RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6p21UniSTS
HuRef626,143,449 - 26,143,570UniSTS
GeneMap99-GB4 RH Map6105.82UniSTS
NCBI RH Map6317.2UniSTS
RH77901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,198,890 - 26,199,104UniSTSGRCh37
Build 36626,306,869 - 26,307,083RGDNCBI36
Celera627,428,193 - 27,428,407RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map6p22.1UniSTS
HuRef626,141,894 - 26,142,108UniSTS
GeneMap99-GB4 RH Map6105.76UniSTS
NCBI RH Map6317.2UniSTS
UniSTS:482908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,199,787 - 26,200,216UniSTSGRCh37
Build 36626,307,766 - 26,308,195RGDNCBI36
Celera627,429,090 - 27,429,519RGD
HuRef626,142,791 - 26,143,220UniSTS
UniSTS:485722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37626,199,041 - 26,199,514UniSTSGRCh37
Build 36626,307,020 - 26,307,493RGDNCBI36
Celera627,428,344 - 27,428,817RGD
HuRef626,142,045 - 26,142,518UniSTS


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
High 2 4
Medium 25 50 16 1 96 1 20 7 15 1 145 64 13 2 1
Low 729 935 594 205 1227 83 859 211 1070 100 826 829 134 213 370 3
Below cutoff 1344 1595 696 177 397 142 2208 1275 2282 70 201 458 35 583 1552

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000356530   ⟹   ENSP00000348924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl626,199,520 - 26,200,715 (+)Ensembl
RefSeq Acc Id: NM_003522   ⟹   NP_003513
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38626,199,516 - 26,199,988 (+)NCBI
GRCh37626,199,787 - 26,200,216 (+)RGD
Build 36626,307,766 - 26,308,195 (+)NCBI Archive
Celera627,429,090 - 27,429,519 (+)RGD
HuRef626,142,791 - 26,143,220 (+)RGD
CHM1_1626,201,968 - 26,202,397 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003513   ⟸   NM_003522
- UniProtKB: P62807 (UniProtKB/Swiss-Prot),   B2R4S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000348924   ⟸   ENST00000356530
Protein Domains
Histone

Promoters
RGD ID:6804311
Promoter ID:HG_KWN:52584
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359985,   ENST00000377831,   NM_003530
Position:
Human AssemblyChrPosition (strand)Source
Build 36626,306,081 - 26,309,307 (-)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(chr6:26067580-26306202)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(chr6:25896585-26287389)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:4752 AgrOrtholog
COSMIC H2BC7 COSMIC
Ensembl Genes ENSG00000180596 UniProtKB/Swiss-Prot
  ENSG00000273802 UniProtKB/Swiss-Prot
  ENSG00000274290 UniProtKB/Swiss-Prot
  ENSG00000277224 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000278588 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000321744 UniProtKB/Swiss-Prot
  ENSP00000348924 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366962 UniProtKB/Swiss-Prot
  ENSP00000380180 UniProtKB/Swiss-Prot
  ENSP00000445633 UniProtKB/Swiss-Prot
  ENSP00000483237 UniProtKB/Swiss-Prot
  ENSP00000489317 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314332 UniProtKB/Swiss-Prot
  ENST00000356530 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377733 UniProtKB/Swiss-Prot
  ENST00000396984 UniProtKB/Swiss-Prot
  ENST00000541790 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:4752 ENTREZGENE
Human Proteome Map H2BC7 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 8343 ENTREZGENE
OMIM 602804 OMIM
PANTHER PTHR23428 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Histone UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29127 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.182137 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 H2BC7  H2B clustered histone 7  HIST1H2BF  histone cluster 1 H2B family member f  Symbol and/or name change 5135510 APPROVED
2016-08-23 HIST1H2BF  histone cluster 1 H2B family member f    histone cluster 1, H2bf  Symbol and/or name change 5135510 APPROVED