C4B_2 (complement component 4B (Chido blood group), copy 2) - Rat Genome Database

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Gene: C4B_2 (complement component 4B (Chido blood group), copy 2) Homo sapiens
Analyze
No known orthologs.
Symbol: C4B_2
Name: complement component 4B (Chido blood group), copy 2
RGD ID: 7207322
HGNC Page HGNC:42398
Description: Enables carbohydrate binding activity and complement binding activity. Involved in complement activation; detection of molecule of bacterial origin; and positive regulation of apoptotic cell clearance. Located in classical-complement-pathway C3/C5 convertase complex and symbiont cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: complement C4-B-like
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: only annotated on alternate loci in reference assembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic Map6p21.3 alternate reference locusNCBI


References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:2431902   PMID:2883116   PMID:6546707   PMID:10207042   PMID:12224044   PMID:12226794   PMID:17503323   PMID:18032375   PMID:19505723   PMID:20795316  


Genomics

Markers in Region
RH36425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,981,792 - 31,981,908UniSTSGRCh37
GRCh37631,949,054 - 31,949,170UniSTSGRCh37
Build 36632,057,033 - 32,057,149RGDNCBI36
Celera633,548,816 - 33,548,932RGD
Cytogenetic Map6p21.3UniSTS
GeneMap99-GB4 RH Map6119.82UniSTS
G54031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,002,659 - 32,002,952UniSTSGRCh37
GRCh37631,969,922 - 31,970,215UniSTSGRCh37
Build 36632,077,900 - 32,078,193RGDNCBI36
Celera633,569,683 - 33,569,976RGD
Cytogenetic Map6p21.3UniSTS
GDB:642029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,002,550 - 32,003,217UniSTSGRCh37
GRCh37631,969,813 - 31,970,480UniSTSGRCh37
Build 36632,077,791 - 32,078,458RGDNCBI36
Celera633,569,574 - 33,570,241RGD
Cytogenetic Map6p21.3UniSTS
SHGC-31623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,003,068 - 32,003,194UniSTSGRCh37
GRCh37631,970,331 - 31,970,457UniSTSGRCh37
Build 36632,078,309 - 32,078,435RGDNCBI36
Celera633,570,092 - 33,570,218RGD
Cytogenetic Map6p21.3UniSTS
TNG Radiation Hybrid Map617525.0UniSTS
Stanford-G3 RH Map61668.0UniSTS
GeneMap99-GB4 RH Map6143.88UniSTS
Whitehead-RH Map6177.7UniSTS
GeneMap99-G3 RH Map61800.0UniSTS
SHGC-12566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,981,575 - 31,981,908UniSTSGRCh37
GRCh37631,948,837 - 31,949,170UniSTSGRCh37
Build 36632,056,816 - 32,057,149RGDNCBI36
Celera633,548,599 - 33,548,932RGD
Cytogenetic Map6p21.3UniSTS
HuRef631,735,846 - 31,736,180UniSTS
Stanford-G3 RH Map61662.0UniSTS
GeneMap99-G3 RH Map61794.0UniSTS
RH46798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,002,288 - 32,002,677UniSTSGRCh37
GRCh37631,969,551 - 31,969,940UniSTSGRCh37
Build 36632,077,529 - 32,077,918RGDNCBI36
Celera633,569,312 - 33,569,701RGD
Cytogenetic Map6p21.3UniSTS
GeneMap99-GB4 RH Map6145.45UniSTS
RH1519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,002,055 - 32,002,677UniSTSGRCh37
GRCh37631,969,318 - 31,969,940UniSTSGRCh37
Celera633,569,079 - 33,569,701UniSTS
Cytogenetic Map6p21.3UniSTS
GeneMap99-GB4 RH Map6119.82UniSTS


Expression


Sequence


Protein Sequences
Protein RefSeqs NP_001229752 (Get FASTA)   NCBI Sequence Viewer  
Protein Domains
Anaphylatoxin-like   NTR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0C0L5-F1-model_v2 AlphaFold P0C0L5 1-1744 view protein structure


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004197.1(STK19):c.854G>A (p.Trp285Ter) single nucleotide variant Malignant melanoma [RCV000067303] Chr6:31980501 [GRCh38]
Chr6:31948278 [GRCh37]
Chr6:32056257 [NCBI36]
Chr6:6p21.33
not provided

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:42398 AgrOrtholog
COSMIC C4B_2 COSMIC
Ensembl Genes ENSG00000224389 UniProtKB/Swiss-Prot
  ENSG00000228267 UniProtKB/Swiss-Prot
  ENSG00000228454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000233312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000236625 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000364321.5 UniProtKB/Swiss-Prot
  ENSP00000407942.2 UniProtKB/Swiss-Prot
  ENSP00000412786.2 UniProtKB/Swiss-Prot
  ENSP00000414200.2 UniProtKB/Swiss-Prot
  ENSP00000415941.2 UniProtKB/Swiss-Prot
  ENSP00000447600.1 UniProtKB/TrEMBL
  ENSP00000449433.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000375177.9 UniProtKB/Swiss-Prot
  ENST00000411583.6 UniProtKB/Swiss-Prot
  ENST00000435363.7 UniProtKB/Swiss-Prot
  ENST00000435500.6 UniProtKB/Swiss-Prot
  ENST00000449788.6 UniProtKB/Swiss-Prot
  ENST00000548301.2 UniProtKB/TrEMBL
  ENST00000552464.2 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000224389 GTEx
  ENSG00000228267 GTEx
  ENSG00000228454 GTEx
  ENSG00000233312 GTEx
  ENSG00000236625 GTEx
HGNC ID HGNC:42398 ENTREZGENE
Human Proteome Map C4B_2 Human Proteome Map
InterPro A-macroglobulin_rcpt-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-macroglobulin_rcpt-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-macroglobulin_TED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylatoxin/fibulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylatoxin_comp_syst UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylatoxn_comp_syst_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement_C4A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Macroglobln_a2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MacrogloblnA2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Netrin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Netrin_module_non-TIMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpenoid_cyclase/PrenylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP-like_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100293534 UniProtKB/Swiss-Prot
  hsa:721 UniProtKB/Swiss-Prot
NCBI Gene C4B_2 ENTREZGENE
PANTHER PTHR11412:SF86 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TED_complement UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166049083 PharmGKB
PRINTS ANAPHYLATOXN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALPHA_2_MACROGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAPHYLATOXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAPHYLATOXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C345C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47686 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JL54_HUMAN UniProtKB/TrEMBL
  CO4B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2BHY4 UniProtKB/Swiss-Prot
  P01028 UniProtKB/Swiss-Prot
  P78445 UniProtKB/Swiss-Prot
  Q13160 UniProtKB/Swiss-Prot
  Q13906 UniProtKB/Swiss-Prot
  Q14033 UniProtKB/Swiss-Prot
  Q14835 UniProtKB/Swiss-Prot
  Q6U2E9 UniProtKB/Swiss-Prot
  Q6U2G1 UniProtKB/Swiss-Prot
  Q6U2I5 UniProtKB/Swiss-Prot
  Q6U2L1 UniProtKB/Swiss-Prot
  Q6U2L7 UniProtKB/Swiss-Prot
  Q6U2L9 UniProtKB/Swiss-Prot
  Q6U2M5 UniProtKB/Swiss-Prot
  Q6VCV8 UniProtKB/Swiss-Prot
  Q96SA7 UniProtKB/Swiss-Prot
  Q9NPK5 UniProtKB/Swiss-Prot
  Q9UIP5 UniProtKB/Swiss-Prot