C4BPA (complement component 4 binding protein alpha) - Rat Genome Database

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Gene: C4BPA (complement component 4 binding protein alpha) Homo sapiens
Analyze
Symbol: C4BPA
Name: complement component 4 binding protein alpha
RGD ID: 736103
HGNC Page HGNC
Description: Enables RNA binding activity. Involved in several processes, including negative regulation of complement activation, classical pathway; regulation of opsonization; and response to symbiotic bacterium. Located in extracellular space. Implicated in COVID-19.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C4b binding protein, alpha chain; C4b-binding protein alpha chain; C4BP; complement component 4 binding protein, alpha chain; complement component 4-binding protein, alpha; proline-rich protein; PRP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: C4BPAP1   C4BPAP2   C4BPAP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381207,104,233 - 207,144,972 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1207,104,233 - 207,144,972 (+)EnsemblGRCh38hg38GRCh38
GRCh371207,277,578 - 207,318,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361205,344,230 - 205,384,940 (+)NCBINCBI36hg18NCBI36
Build 341203,666,001 - 203,706,701NCBI
Celera1180,529,170 - 180,570,903 (+)NCBI
Cytogenetic Map1q32.2NCBI
HuRef1177,975,014 - 178,014,972 (+)NCBIHuRef
CHM1_11208,550,269 - 208,591,017 (+)NCBICHM1_1
T2T-CHM13v2.01206,369,472 - 206,410,221 (+)NCBI
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
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
Actein  (ISO)
aflatoxin B1  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dicrotophos  (EXP)
endosulfan  (ISO)
flutamide  (ISO)
furan  (ISO)
genistein  (ISO)
graphite  (ISO)
hexachlorobenzene  (ISO)
L-ethionine  (ISO)
lansoprazole  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
omeprazole  (ISO)
ozone  (ISO)
pantoprazole  (ISO)
paracetamol  (EXP)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propanal  (EXP)
quartz  (ISO)
quercetin  (EXP)
rabeprazole  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Plasma proteomic analysis may identify new markers for radiation-induced lung toxicity in patients with non-small-cell lung cancer. Cai XW, etal., Int J Radiat Oncol Biol Phys. 2010 Jul 1;77(3):867-76.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection. Ramlall V, etal., Nat Med. 2020 Aug 3. pii: 10.1038/s41591-020-1021-2. doi: 10.1038/s41591-020-1021-2.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1833851   PMID:1989602   PMID:2237642   PMID:2352933   PMID:2590215   PMID:3017751   PMID:3378624   PMID:3840370   PMID:4033666   PMID:6222381   PMID:7592941   PMID:7772049  
PMID:7806286   PMID:8406448   PMID:9089100   PMID:10383431   PMID:11441101   PMID:11705989   PMID:12100475   PMID:12135356   PMID:12477932   PMID:12893820   PMID:14607961   PMID:14718574  
PMID:15179322   PMID:15188402   PMID:15489334   PMID:16330538   PMID:16335952   PMID:16502470   PMID:16819837   PMID:17225862   PMID:17244159   PMID:17548110   PMID:17579075   PMID:18029348  
PMID:18406463   PMID:18424762   PMID:18556068   PMID:18715646   PMID:18842294   PMID:19076829   PMID:19155499   PMID:19344414   PMID:19417080   PMID:19423540   PMID:19494311   PMID:20022381  
PMID:20059470   PMID:20212171   PMID:20237496   PMID:20406964   PMID:20438785   PMID:20532227   PMID:21262398   PMID:21659506   PMID:21873635   PMID:21915248   PMID:21988832   PMID:22333221  
PMID:22516433   PMID:22658674   PMID:22732096   PMID:22925928   PMID:23274142   PMID:23390292   PMID:23508668   PMID:23750785   PMID:24760758   PMID:24779215   PMID:25660618   PMID:26067271  
PMID:26496610   PMID:26658464   PMID:26897815   PMID:27342126   PMID:27498393   PMID:27592383   PMID:28163174   PMID:28627632   PMID:30169415   PMID:30323030   PMID:30940885   PMID:31273033  
PMID:31586073   PMID:33961781   PMID:34167573   PMID:34190690  


Genomics

Comparative Map Data
C4BPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381207,104,233 - 207,144,972 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1207,104,233 - 207,144,972 (+)EnsemblGRCh38hg38GRCh38
GRCh371207,277,578 - 207,318,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361205,344,230 - 205,384,940 (+)NCBINCBI36hg18NCBI36
Build 341203,666,001 - 203,706,701NCBI
Celera1180,529,170 - 180,570,903 (+)NCBI
Cytogenetic Map1q32.2NCBI
HuRef1177,975,014 - 178,014,972 (+)NCBIHuRef
CHM1_11208,550,269 - 208,591,017 (+)NCBICHM1_1
T2T-CHM13v2.01206,369,472 - 206,410,221 (+)NCBI
Zp3r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391130,474,847 - 130,557,371 (-)NCBIGRCm39mm39
GRCm39 Ensembl1130,504,450 - 130,557,358 (-)Ensembl
GRCm381130,547,110 - 130,629,634 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1130,576,713 - 130,629,621 (-)EnsemblGRCm38mm10GRCm38
MGSCv371132,473,283 - 132,526,183 (-)NCBIGRCm37mm9NCBIm37
MGSCv361132,404,259 - 132,457,141 (-)NCBImm8
Celera1133,204,292 - 133,253,007 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map156.89NCBI
C4bpa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21342,075,715 - 42,111,205 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1342,075,717 - 42,111,205 (-)Ensembl
Rnor_6.01347,342,090 - 47,377,580 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1347,342,079 - 47,377,703 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01352,430,754 - 52,466,244 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41343,552,947 - 43,588,565 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11343,567,082 - 43,598,278 (-)NCBI
Celera1342,426,949 - 42,461,963 (-)NCBICelera
RH 3.4 Map13109.8RGD
Cytogenetic Map13q13NCBI
C4bpa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540642,613,607 - 42,641,670 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540642,613,659 - 42,641,918 (+)NCBIChiLan1.0ChiLan1.0
C4BPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11186,985,220 - 187,025,898 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1186,985,264 - 187,025,898 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01182,707,221 - 182,747,878 (+)NCBIMhudiblu_PPA_v0panPan3
C4BPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.176,239,036 - 6,268,934 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl76,241,102 - 6,268,910 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha75,802,297 - 5,832,192 (+)NCBI
ROS_Cfam_1.075,927,762 - 5,957,518 (+)NCBI
UMICH_Zoey_3.175,861,425 - 5,891,162 (+)NCBI
UNSW_CanFamBas_1.075,962,886 - 5,992,819 (+)NCBI
UU_Cfam_GSD_1.076,003,175 - 6,033,127 (+)NCBI
C4BPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl967,726,154 - 67,829,220 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1967,815,544 - 67,827,509 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2974,195,820 - 74,207,816 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C4BPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12522,169,355 - 22,254,331 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605522,832,939 - 22,844,116 (-)NCBIVero_WHO_p1.0

Position Markers
SHGC-76272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,318,144 - 207,318,256UniSTSGRCh37
Build 361205,384,767 - 205,384,879RGDNCBI36
Celera1180,570,730 - 180,570,842RGD
Cytogenetic Map1q32UniSTS
HuRef1178,014,799 - 178,014,911UniSTS
TNG Radiation Hybrid Map1101899.0UniSTS
GeneMap99-GB4 RH Map1686.04UniSTS
NCBI RH Map11866.3UniSTS
AL034030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,296,608 - 207,296,792UniSTSGRCh37
Build 361205,363,231 - 205,363,415RGDNCBI36
Celera1180,549,192 - 180,549,376RGD
Cytogenetic Map1q32UniSTS
HuRef1177,993,261 - 177,993,445UniSTS
SHGC-132542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,318,074 - 207,318,267UniSTSGRCh37
Build 361205,384,697 - 205,384,890RGDNCBI36
Celera1180,570,660 - 180,570,853RGD
Cytogenetic Map1q32UniSTS
HuRef1178,014,729 - 178,014,922UniSTS
TNG Radiation Hybrid Map1101903.0UniSTS
D1S3704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,289,772 - 207,289,940UniSTSGRCh37
Build 361205,356,395 - 205,356,563RGDNCBI36
Celera1180,541,335 - 180,541,489RGD
HuRef1177,987,180 - 177,987,334UniSTS
SHGC-35696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,318,076 - 207,318,278UniSTSGRCh37
Build 361205,384,699 - 205,384,901RGDNCBI36
Celera1180,570,662 - 180,570,864RGD
Cytogenetic Map1q32UniSTS
HuRef1178,014,731 - 178,014,933UniSTS
GeneMap99-G3 RH Map18064.0UniSTS
D1S3036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,300,401 - 207,300,500UniSTSGRCh37
Build 361205,367,024 - 205,367,123RGDNCBI36
Celera1180,552,985 - 180,553,084RGD
Cytogenetic Map1q32UniSTS
HuRef1177,997,054 - 177,997,153UniSTS
TNG Radiation Hybrid Map1101907.0UniSTS
GeneMap99-GB4 RH Map1686.04UniSTS
GeneMap99-GB4 RH Map1684.11UniSTS
Whitehead-RH Map1838.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11791.2UniSTS
C4BPA_2902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371207,317,867 - 207,318,439UniSTSGRCh37
Build 361205,384,490 - 205,385,062RGDNCBI36
Celera1180,570,453 - 180,571,025RGD
HuRef1178,014,522 - 178,015,094UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:392
Count of miRNA genes:350
Interacting mature miRNAs:362
Transcripts:ENST00000367070, ENST00000421786, ENST00000424088
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.


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 115 115 115 6
Medium 41 95 314 314 96 310 8 1 7 6 26 497 5 35 6
Low 481 605 141 99 704 26 267 38 260 74 424 234 74 171 230 1
Below cutoff 1770 1985 1074 87 591 5 3102 1859 3197 199 861 684 82 818 2130 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC247050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ019292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367070   ⟹   ENSP00000356037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,104,233 - 207,144,972 (+)Ensembl
RefSeq Acc Id: ENST00000421786   ⟹   ENSP00000403386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,104,306 - 207,123,949 (+)Ensembl
RefSeq Acc Id: ENST00000424088   ⟹   ENSP00000395968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1207,104,378 - 207,115,465 (+)Ensembl
RefSeq Acc Id: NM_000715   ⟹   NP_000706
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,104,233 - 207,144,972 (+)NCBI
GRCh371207,277,583 - 207,318,317 (+)NCBI
Build 361205,344,230 - 205,384,940 (+)NCBI Archive
HuRef1177,975,014 - 178,014,972 (+)ENTREZGENE
CHM1_11208,550,269 - 208,591,017 (+)NCBI
T2T-CHM13v2.01206,369,472 - 206,410,221 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273251   ⟹   XP_005273308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,104,233 - 207,144,972 (+)NCBI
GRCh371207,277,583 - 207,318,317 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273252   ⟹   XP_005273309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,104,233 - 207,144,972 (+)NCBI
GRCh371207,277,583 - 207,318,317 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000706   ⟸   NM_000715
- Peptide Label: precursor
- UniProtKB: P04003 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273309   ⟸   XM_005273252
- Peptide Label: isoform X1
- UniProtKB: P04003 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273308   ⟸   XM_005273251
- Peptide Label: isoform X1
- UniProtKB: P04003 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000395968   ⟸   ENST00000424088
RefSeq Acc Id: ENSP00000356037   ⟸   ENST00000367070
RefSeq Acc Id: ENSP00000403386   ⟸   ENST00000421786
Protein Domains
Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04003-F1-model_v2 AlphaFold P04003 1-597 view protein structure

Promoters
RGD ID:6858830
Promoter ID:EPDNEW_H2580
Type:initiation region
Name:C4BPA_1
Description:complement component 4 binding protein alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381207,104,233 - 207,104,293EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2		 pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr) single nucleotide variant not provided [RCV001683473]|not specified [RCV000454800] Chr1:207131555 [GRCh38]
Chr1:207304900 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.675T>C (p.Gly225=) single nucleotide variant not provided [RCV001692097]|not specified [RCV000455756] Chr1:207124335 [GRCh38]
Chr1:207297680 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autistic disorder [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q32.2(chr1:207288297-207293178)x0 copy number loss not provided [RCV000749332] Chr1:207288297..207293178 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207289436-207293178)x0 copy number loss not provided [RCV000749333] Chr1:207289436..207293178 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207291126-207293173)x0 copy number loss not provided [RCV000749334] Chr1:207291126..207293173 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207291126-207293496)x0 copy number loss not provided [RCV000749335] Chr1:207291126..207293496 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207292578-207293173)x0 copy number loss not provided [RCV000749336] Chr1:207292578..207293173 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207292578-207293178)x0 copy number loss not provided [RCV000749337] Chr1:207292578..207293178 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207292616-207293496)x0 copy number loss not provided [RCV000749338] Chr1:207292616..207293496 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.2(chr1:207293178-207536971)x3 copy number gain not provided [RCV000749339] Chr1:207293178..207536971 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.889+19A>G single nucleotide variant not provided [RCV001680699] Chr1:207126914 [GRCh38]
Chr1:207300259 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.97C>G (p.Leu33Val) single nucleotide variant not provided [RCV000969420] Chr1:207113122 [GRCh38]
Chr1:207286467 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.39A>G (p.Arg13=) single nucleotide variant not provided [RCV000882748] Chr1:207113064 [GRCh38]
Chr1:207286409 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.671T>C (p.Ile224Thr) single nucleotide variant not provided [RCV000964829] Chr1:207124331 [GRCh38]
Chr1:207297676 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_000715.4(C4BPA):c.10C>G (p.Pro4Ala) single nucleotide variant not provided [RCV000961346] Chr1:207113035 [GRCh38]
Chr1:207286380 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3		 uncertain significance
NM_000715.4(C4BPA):c.1068A>C (p.Pro356=) single nucleotide variant not provided [RCV001638680] Chr1:207131724 [GRCh38]
Chr1:207305069 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.1274-95A>C single nucleotide variant not provided [RCV001693313] Chr1:207141011 [GRCh38]
Chr1:207314356 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NM_000715.4(C4BPA):c.179C>T (p.Ala60Val) single nucleotide variant not provided [RCV000955835] Chr1:207114136 [GRCh38]
Chr1:207287481 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.1454G>A (p.Arg485Gln) single nucleotide variant not provided [RCV000955836] Chr1:207143827 [GRCh38]
Chr1:207317172 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.1274-63C>T single nucleotide variant not provided [RCV001620760] Chr1:207141043 [GRCh38]
Chr1:207314388 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.143-258C>T single nucleotide variant not provided [RCV001676532] Chr1:207113842 [GRCh38]
Chr1:207287187 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.328+226del deletion not provided [RCV001656695] Chr1:207114486 [GRCh38]
Chr1:207287831 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.428+37T>C single nucleotide variant not provided [RCV001707078] Chr1:207115552 [GRCh38]
Chr1:207288897 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.142+245T>C single nucleotide variant not provided [RCV001694814] Chr1:207113412 [GRCh38]
Chr1:207286757 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.1621-101G>C single nucleotide variant not provided [RCV001695521] Chr1:207144443 [GRCh38]
Chr1:207317788 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.11C>A (p.Pro4Gln) single nucleotide variant not provided [RCV001609589] Chr1:207113036 [GRCh38]
Chr1:207286381 [GRCh37]
Chr1:1q32.2		 benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_000715.4(C4BPA):c.719G>A (p.Arg240His) single nucleotide variant not provided [RCV001530867] Chr1:207126725 [GRCh38]
Chr1:207300070 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.889+141T>A single nucleotide variant not provided [RCV001695730] Chr1:207127036 [GRCh38]
Chr1:207300381 [GRCh37]
Chr1:1q32.2		 benign
NM_000715.4(C4BPA):c.515-36G>C single nucleotide variant not provided [RCV001690277] Chr1:207124139 [GRCh38]
Chr1:207297484 [GRCh37]
Chr1:1q32.2		 benign
NC_000001.10:g.(?_206941981)_(208391267_?)dup duplication Immunodeficiency, common variable, 7 [RCV001939950]|Inflammatory bowel disease [RCV001916125] Chr1:206941981..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1325 AgrOrtholog
COSMIC C4BPA COSMIC
Ensembl Genes ENSG00000123838 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000356037 ENTREZGENE
  ENSP00000356037.3 UniProtKB/Swiss-Prot
  ENSP00000395968.1 UniProtKB/TrEMBL
  ENSP00000403386.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000367070 ENTREZGENE
  ENST00000367070.8 UniProtKB/Swiss-Prot
  ENST00000421786.5 UniProtKB/TrEMBL
  ENST00000424088.1 UniProtKB/TrEMBL
GTEx ENSG00000123838 GTEx
HGNC ID HGNC:1325 ENTREZGENE
Human Proteome Map C4BPA Human Proteome Map
InterPro C4bp_oligo UniProtKB/Swiss-Prot
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:722 UniProtKB/Swiss-Prot
NCBI Gene 722 ENTREZGENE
OMIM 120830 OMIM
Pfam C4bp_oligo UniProtKB/Swiss-Prot
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25905 PharmGKB
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6PVY5_HUMAN UniProtKB/TrEMBL
  C4BPA_HUMAN UniProtKB/Swiss-Prot
  F2Z2V7_HUMAN UniProtKB/TrEMBL
  P04003 ENTREZGENE
UniProt Secondary Q5VVQ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 C4BPA  complement component 4 binding protein alpha    complement component 4 binding protein, alpha  Symbol and/or name change 5135510 APPROVED
2011-08-16 C4BPA  complement component 4 binding protein, alpha  C4BPA  complement component 4 binding protein, alpha  Symbol and/or name change 5135510 APPROVED