CGB5 (chorionic gonadotropin subunit beta 5) - Rat Genome Database

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Gene: CGB5 (chorionic gonadotropin subunit beta 5) Homo sapiens
Analyze
No known orthologs.
Symbol: CGB5
Name: chorionic gonadotropin subunit beta 5
RGD ID: 1347768
HGNC Page HGNC:16452
Description: Predicted to enable hormone activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in pituitary gonadotropin complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CGB; chorionic gonadotropin beta 5 subunit; chorionic gonadotropin beta subunit; chorionic gonadotropin beta subunit 5; chorionic gonadotropin, beta polypeptide 5; HCG; hCGB; MGC119822
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,043,848 - 49,045,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,043,848 - 49,045,311 (+)EnsemblGRCh38hg38GRCh38
GRCh371949,547,105 - 49,548,568 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,238,914 - 54,240,380 (+)NCBINCBI36Build 36hg18NCBI36
Build 341954,238,913 - 54,240,380NCBI
Celera1946,414,311 - 46,415,777 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,923,731 - 45,925,197 (+)NCBIHuRef
CHM1_11949,549,334 - 49,550,800 (+)NCBICHM1_1
T2T-CHM13v2.01952,038,633 - 52,040,096 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:172504   PMID:1371113   PMID:2422163   PMID:2424697   PMID:2452822   PMID:2468994   PMID:2536708   PMID:2611225   PMID:2708337   PMID:6194155   PMID:6204923   PMID:6209613  
PMID:6319099   PMID:6690982   PMID:7922031   PMID:8202136   PMID:9012484   PMID:9578495   PMID:10373373   PMID:11893904   PMID:12477932   PMID:12511603   PMID:12914533   PMID:14715707  
PMID:15217983   PMID:15253136   PMID:15285305   PMID:15299093   PMID:15309632   PMID:17510243   PMID:18606016   PMID:18782867   PMID:19002615   PMID:19047151   PMID:19173346   PMID:20716560  
PMID:20734064   PMID:20962020   PMID:21167905   PMID:22554618   PMID:22769733   PMID:23499152   PMID:23510993   PMID:23812658   PMID:25064170   PMID:25193288   PMID:25300619   PMID:25456363  
PMID:26968839   PMID:28093002   PMID:29997244   PMID:32296183   PMID:34373451   PMID:35156780   PMID:35624327   PMID:37062114   PMID:38214358   PMID:38270320  


Genomics

Variants

.
Variants in CGB5
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:49519850-49558959)x3 copy number gain See cases [RCV000447118] Chr19:49519850..49558959 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_033043.2(CGB5):c.72G>A (p.Pro24=) single nucleotide variant not provided [RCV000949074] Chr19:49044633 [GRCh38]
Chr19:49547890 [GRCh37]
Chr19:19q13.33		 benign
NM_033043.2(CGB5):c.306C>T (p.Tyr102=) single nucleotide variant not provided [RCV000949075] Chr19:49045102 [GRCh38]
Chr19:49548359 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49472545)_(49714755_?)del deletion Progressive familial heart block type IB [RCV003119771] Chr19:49472545..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.415T>C (p.Ser139Pro) single nucleotide variant Inborn genetic diseases [RCV002689055] Chr19:49045211 [GRCh38]
Chr19:49548468 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.272G>T (p.Gly91Val) single nucleotide variant Inborn genetic diseases [RCV002799945] Chr19:49045068 [GRCh38]
Chr19:49548325 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.227T>C (p.Val76Ala) single nucleotide variant Inborn genetic diseases [RCV002758531] Chr19:49045023 [GRCh38]
Chr19:49548280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.396C>G (p.Asp132Glu) single nucleotide variant Inborn genetic diseases [RCV002989314] Chr19:49045192 [GRCh38]
Chr19:49548449 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.182T>G (p.Met61Arg) single nucleotide variant Inborn genetic diseases [RCV003279515] Chr19:49044743 [GRCh38]
Chr19:49548000 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.428C>G (p.Ala143Gly) single nucleotide variant Inborn genetic diseases [RCV003175431] Chr19:49045224 [GRCh38]
Chr19:49548481 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_033043.2(CGB5):c.65A>G (p.Lys22Arg) single nucleotide variant Inborn genetic diseases [RCV003173755] Chr19:49044626 [GRCh38]
Chr19:49547883 [GRCh37]
Chr19:19q13.33		 likely benign
NM_033043.2(CGB5):c.441C>G (p.Ser147Arg) single nucleotide variant Inborn genetic diseases [RCV003174895] Chr19:49045237 [GRCh38]
Chr19:49548494 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:194
Count of miRNA genes:171
Interacting mature miRNAs:174
Transcripts:ENST00000301408
Prediction methods:Microtar, 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.

Markers in Region
STS-J00117  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.32UniSTS
GeneMap99-GB4 RH Map19269.13UniSTS
NCBI RH Map19533.4UniSTS
RH71426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.32UniSTS
GeneMap99-GB4 RH Map19269.02UniSTS
NCBI RH Map19533.4UniSTS
D19S1130  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.32UniSTS
UniSTS:483811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,519,243 - 49,520,348UniSTSGRCh37
Celera1946,386,450 - 46,387,555UniSTS


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
Low 21 1 219 1 105 8 215 1 387 11 62
Below cutoff 1133 1176 1151 231 577 73 3431 1229 1887 97 1293 1061 158 802 2203

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000301408   ⟹   ENSP00000301408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,043,848 - 49,045,311 (+)Ensembl
RefSeq Acc Id: NM_033043   ⟹   NP_149032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,043,848 - 49,045,311 (+)NCBI
GRCh371949,547,102 - 49,548,568 (+)ENTREZGENE
Build 361954,238,914 - 54,240,380 (+)NCBI Archive
HuRef1945,923,731 - 45,925,197 (+)ENTREZGENE
CHM1_11949,549,334 - 49,550,800 (+)NCBI
T2T-CHM13v2.01952,038,633 - 52,040,096 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_149032   ⟸   NM_033043
- Peptide Label: precursor
- UniProtKB: Q8WXL3 (UniProtKB/Swiss-Prot),   Q8WXL2 (UniProtKB/Swiss-Prot),   Q8WXL1 (UniProtKB/Swiss-Prot),   Q8WTT5 (UniProtKB/Swiss-Prot),   Q3SY41 (UniProtKB/Swiss-Prot),   Q3KPI3 (UniProtKB/Swiss-Prot),   Q14000 (UniProtKB/Swiss-Prot),   Q13991 (UniProtKB/Swiss-Prot),   P01233 (UniProtKB/Swiss-Prot),   B9ZVP5 (UniProtKB/Swiss-Prot),   A1A5E0 (UniProtKB/Swiss-Prot),   Q8WXL4 (UniProtKB/Swiss-Prot),   P0DN86 (UniProtKB/Swiss-Prot),   A0A0F7RQP8 (UniProtKB/TrEMBL),   A0A0F7RPU2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000301408   ⟸   ENST00000301408
Protein Domains
Glycoprotein hormone subunit beta

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DN86-F1-model_v2 AlphaFold P0DN86 1-165 view protein structure

Promoters
RGD ID:13205065
Promoter ID:EPDNEW_H26113
Type:initiation region
Name:CGB5_3
Description:chorionic gonadotropin beta subunit 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26108  EPDNEW_H26114  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,042,408 - 49,042,468EPDNEW
RGD ID:13205067
Promoter ID:EPDNEW_H26114
Type:multiple initiation site
Name:CGB5_1
Description:chorionic gonadotropin beta subunit 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26108  EPDNEW_H26113  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,043,848 - 49,043,908EPDNEW
RGD ID:6850004
Promoter ID:EP11129
Type:single initiation site
Name:HS_CGB
Description:Chorionic gonadotropin-beta, CGB gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:placenta
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,238,914 - 54,238,974EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16452 AgrOrtholog
COSMIC CGB5 COSMIC
Ensembl Genes ENSG00000104827 UniProtKB/Swiss-Prot
  ENSG00000189052 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000213030 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000301408 ENTREZGENE
  ENST00000301408.7 UniProtKB/Swiss-Prot
  ENST00000357383.4 UniProtKB/Swiss-Prot
  ENST00000448456.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104827 GTEx
  ENSG00000189052 GTEx
  ENSG00000213030 GTEx
HGNC ID HGNC:16452 ENTREZGENE
Human Proteome Map CGB5 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hormone_CN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gonadotropin_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gonadotropin_bsu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1082 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:93659 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:94115 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 93659 ENTREZGENE
OMIM 608825 OMIM
PANTHER LUTROPIN SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11515 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cys_knot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26437 PharmGKB
PROSITE GLYCO_HORMONE_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYCO_HORMONE_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GHB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0F7RPU2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0F7RQP8 ENTREZGENE, UniProtKB/TrEMBL
  A1A5E0 ENTREZGENE
  B9ZVP5 ENTREZGENE
  CGB3_HUMAN UniProtKB/Swiss-Prot
  P01233 ENTREZGENE
  P0DN86 ENTREZGENE
  Q13991 ENTREZGENE
  Q14000 ENTREZGENE
  Q3KPI3 ENTREZGENE
  Q3SY41 ENTREZGENE
  Q8WTT5 ENTREZGENE
  Q8WXL1 ENTREZGENE
  Q8WXL2 ENTREZGENE
  Q8WXL3 ENTREZGENE
  Q8WXL4 ENTREZGENE
UniProt Secondary A1A5E0 UniProtKB/Swiss-Prot
  B9ZVP5 UniProtKB/Swiss-Prot
  P01233 UniProtKB/Swiss-Prot
  Q13991 UniProtKB/Swiss-Prot
  Q14000 UniProtKB/Swiss-Prot
  Q3KPI3 UniProtKB/Swiss-Prot
  Q3SY41 UniProtKB/Swiss-Prot
  Q8WTT5 UniProtKB/Swiss-Prot
  Q8WXL1 UniProtKB/Swiss-Prot
  Q8WXL2 UniProtKB/Swiss-Prot
  Q8WXL3 UniProtKB/Swiss-Prot
  Q8WXL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 CGB5  chorionic gonadotropin subunit beta 5  CGB5  chorionic gonadotropin beta subunit 5  Symbol and/or name change 5135510 APPROVED
2016-01-19 CGB5  chorionic gonadotropin beta subunit 5  CGB5  chorionic gonadotropin, beta polypeptide 5  Symbol and/or name change 5135510 APPROVED