Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SERPIND1 (serpin family D member 1)

Identity

Alias_namesHCF2
serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1
serpin peptidase inhibitor, clade D (heparin cofactor), member 1
Alias_symbol (synonym)HC-II
HLS2
HC2
D22S673
Other aliasHCII
LS2
THPH10
HGNC (Hugo) SERPIND1
LocusID (NCBI) 3053
Atlas_Id 55122
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 20774095 and ends at 20787720 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SERPIND1   4838
LRG (Locus Reference Genomic)LRG_594
Cards
Entrez_Gene (NCBI)SERPIND1  3053  serpin family D member 1
AliasesD22S673; HC2; HCF2; HCII; 
HLS2; LS2; THPH10
GeneCards (Weizmann)SERPIND1
Ensembl hg19 (Hinxton)ENSG00000099937 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099937 [Gene_View]  chr22:20774095-20787720 [Contig_View]  SERPIND1 [Vega]
ICGC DataPortalENSG00000099937
TCGA cBioPortalSERPIND1
AceView (NCBI)SERPIND1
Genatlas (Paris)SERPIND1
WikiGenes3053
SOURCE (Princeton)SERPIND1
Genetics Home Reference (NIH)SERPIND1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPIND1  -     chr22:20774095-20787720 +  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPIND1  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblSERPIND1 - 22q11.21 [CytoView hg19]  SERPIND1 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBISERPIND1 [Mapview hg19]  SERPIND1 [Mapview hg38]
OMIM142360   612356   
Gene and transcription
Genbank (Entrez)AK225292 AK314200 BC035028 BP237845 CR456573
RefSeq transcript (Entrez)NM_000185
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SERPIND1
Cluster EST : UnigeneHs.474270 [ NCBI ]
CGAP (NCI)Hs.474270
Alternative Splicing GalleryENSG00000099937
Gene ExpressionSERPIND1 [ NCBI-GEO ]   SERPIND1 [ EBI - ARRAY_EXPRESS ]   SERPIND1 [ SEEK ]   SERPIND1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPIND1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3053
GTEX Portal (Tissue expression)SERPIND1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05546   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05546  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05546
Splice isoforms : SwissVarP05546
PhosPhoSitePlusP05546
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)HCII    Serpin_CS    Serpin_dom    Serpin_fam   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPIND1
DMDM Disease mutations3053
Blocks (Seattle)SERPIND1
PDB (SRS)1JMJ    1JMO    2NAT   
PDB (PDBSum)1JMJ    1JMO    2NAT   
PDB (IMB)1JMJ    1JMO    2NAT   
PDB (RSDB)1JMJ    1JMO    2NAT   
Structural Biology KnowledgeBase1JMJ    1JMO    2NAT   
SCOP (Structural Classification of Proteins)1JMJ    1JMO    2NAT   
CATH (Classification of proteins structures)1JMJ    1JMO    2NAT   
SuperfamilyP05546
Human Protein AtlasENSG00000099937
Peptide AtlasP05546
HPRD00795
IPIIPI00879573   
Protein Interaction databases
DIP (DOE-UCLA)P05546
IntAct (EBI)P05546
FunCoupENSG00000099937
BioGRIDSERPIND1
STRING (EMBL)SERPIND1
ZODIACSERPIND1
Ontologies - Pathways
QuickGOP05546
Ontology : AmiGOendopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular region  extracellular space  chemotaxis  blood coagulation  heparin binding  bioluminescence  negative regulation of endopeptidase activity  extracellular exosome  
Ontology : EGO-EBIendopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular region  extracellular space  chemotaxis  blood coagulation  heparin binding  bioluminescence  negative regulation of endopeptidase activity  extracellular exosome  
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkSERPIND1
Atlas of Cancer Signalling NetworkSERPIND1
Wikipedia pathwaysSERPIND1
Orthology - Evolution
OrthoDB3053
GeneTree (enSembl)ENSG00000099937
Phylogenetic Trees/Animal Genes : TreeFamSERPIND1
HOVERGENP05546
HOGENOMP05546
Homologs : HomoloGeneSERPIND1
Homology/Alignments : Family Browser (UCSC)SERPIND1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPIND1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPIND1
dbVarSERPIND1
ClinVarSERPIND1
1000_GenomesSERPIND1 
Exome Variant ServerSERPIND1
ExAC (Exome Aggregation Consortium)SERPIND1 (select the gene name)
Genetic variants : HAPMAP3053
Genomic Variants (DGV)SERPIND1 [DGVbeta]
DECIPHERSERPIND1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPIND1 
Mutations
ICGC Data PortalSERPIND1 
TCGA Data PortalSERPIND1 
Broad Tumor PortalSERPIND1
OASIS PortalSERPIND1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPIND1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSERPIND1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SERPIND1
DgiDB (Drug Gene Interaction Database)SERPIND1
DoCM (Curated mutations)SERPIND1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPIND1 (select a term)
intoGenSERPIND1
Cancer3DSERPIND1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142360    612356   
Orphanet
MedgenSERPIND1
Genetic Testing Registry SERPIND1
NextProtP05546 [Medical]
TSGene3053
GENETestsSERPIND1
Target ValidationSERPIND1
Huge Navigator SERPIND1 [HugePedia]
snp3D : Map Gene to Disease3053
BioCentury BCIQSERPIND1
ClinGenSERPIND1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3053
Chemical/Pharm GKB GenePA35053
Clinical trialSERPIND1
Miscellaneous
canSAR (ICR)SERPIND1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPIND1
EVEXSERPIND1
GoPubMedSERPIND1
iHOPSERPIND1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:07:00 CEST 2017

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