The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011] See more...

Aliases for SEPSECS Gene

Aliases for SEPSECS Gene

  • Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase 2 3 5
  • O-Phosphoseryl-TRNA(Sec) Selenium Transferase 2 3 4
  • SLA 2 3 4
  • Soluble Liver Antigen/Liver Pancreas Antigen 2 3
  • TRNA(Ser/Sec)-Associated Antigenic Protein 3 4
  • UGA Suppressor TRNA-Associated Protein 3 4
  • Liver-Pancreas Antigen 3 4
  • Soluble Liver Antigen 3 4
  • SLA/LP Autoantigen 3 4
  • SLA-P35 3 4
  • SLA/LP 2 3
  • LP 3 4
  • Selenocysteinyl-TRNA(Sec) Synthase 4
  • Sep-TRNA:Sec-TRNA Synthase 4
  • Selenocysteine Synthase 4
  • Sec Synthase 4
  • EC 2.9.1.n1 50
  • EC 2.9.1.2 4
  • SEPSECS 5
  • SepSecS 4
  • TRNP48 4
  • PCH2D 3

External Ids for SEPSECS Gene

Previous GeneCards Identifiers for SEPSECS Gene

  • GC04M024730
  • GC04M024462

Summaries for SEPSECS Gene

Entrez Gene Summary for SEPSECS Gene

  • The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]

GeneCards Summary for SEPSECS Gene

SEPSECS (Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase) is a Protein Coding gene. Diseases associated with SEPSECS include Pontocerebellar Hypoplasia, Type 2D and Pontocerebellar Hypoplasia, Type 2E. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and tRNA binding.

UniProtKB/Swiss-Prot Summary for SEPSECS Gene

  • Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.

Gene Wiki entry for SEPSECS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPSECS Gene

Genomics for SEPSECS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEPSECS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J025158 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.1 -88 3.9 BCLAF1 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 ZMYM3 POLR2A JUND PI4K2B HSALNG0033384 HSALNG0033385 SEPSECS SEPSECS-AS1 ANAPC4
GH04J024805 Enhancer 0.9 Ensembl ENCODE 10.2 +355.0 355049 1.4 IKZF1 REST MNT MAFF TAL1 ZNF316 USF2 NFE2 RAD51 MAFK ANAPC4 DHX15 ZCCHC4 SEPSECS LGI2 HSALNG0033360 lnc-LGI2-5 SOD3 CCDC149
GH04J025107 Enhancer 0.7 Ensembl ENCODE 10.4 +52.9 52856 1 RAD51 PKNOX1 FOXA1 TOE1 CEBPB HLF ZNF354B ZNF512 USF1 PBX2 ANAPC4 DHX15 ZCCHC4 LGI2 SEPSECS HSALNG0033375 LOC105374534
GH04J025153 Enhancer 0.8 ENCODE 0.4 +5.6 5642 3 CEBPA ATF3 YY1 KDM6A SMAD4 RXRA SAP130 ETV4 TEAD3 JUND lnc-LGI2-1 ANAPC4 CCDC149 PI4K2B SEPSECS piR-38051-197 LGI2
GH04J025133 Enhancer 0.7 Ensembl ENCODE 0.3 +28.1 28145 3.2 FOXA2 SAP130 SOX5 MAFK ARID3A HLF NANOG TCF7 ANAPC4 CCDC149 PI4K2B piR-38051-197 piR-37873 lnc-LGI2-1 SEPSECS LGI2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPSECS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPSECS

Top Transcription factor binding sites by QIAGEN in the SEPSECS gene promoter:
  • c-Myb
  • Elk-1
  • FOXC1

Genomic Locations for SEPSECS Gene

Latest Assembly
chr4:25,120,014-25,160,550
(GRCh38/hg38)
Size:
40,537 bases
Orientation:
Minus strand

Previous Assembly
chr4:25,121,636-25,162,071
(GRCh37/hg19 by Entrez Gene)
Size:
40,436 bases
Orientation:
Minus strand

chr4:25,121,627-25,162,204
(GRCh37/hg19 by Ensembl)
Size:
40,578 bases
Orientation:
Minus strand

Genomic View for SEPSECS Gene

Genes around SEPSECS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPSECS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPSECS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPSECS Gene

Proteins for SEPSECS Gene

  • Protein details for SEPSECS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD40-SPCS_HUMAN
    Recommended name:
    O-phosphoseryl-tRNA(Sec) selenium transferase
    Protein Accession:
    Q9HD40
    Secondary Accessions:
    • A8K8W1
    • Q0D2P3
    • Q17RT1
    • Q9NXZ5
    • Q9UGM9
    • Q9Y353

    Protein attributes for SEPSECS Gene

    Size:
    501 amino acids
    Molecular mass:
    55726 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer formed by a catalytic dimer and a non-catalytic dimer serving as a binding platform that orients tRNASec for catalysis. Each tetramer binds the CCA ends of two tRNAs which point to the active sites of the catalytic dimer.
    SequenceCaution:
    • Sequence=AAD33963.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAH23539.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB62209.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB89517.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Possible diagnostic marker for autoimmune hepatitis (AIH).
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for SEPSECS Gene

    Alternative splice isoforms for SEPSECS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPSECS Gene

Selected DME Specific Peptides for SEPSECS Gene

Q9HD40:
  • SKCMHLIQQGARVGRIDAFVQSLDKNF
  • YPGRASASPSLDVLITLL
  • WPRIDQKSC
  • HGIGRSG
  • TTSCFAPR
  • TAGFEPVVIENVLEGDELRT
  • NYPCAYLNAA
  • QPKAAGSS
  • GEREGRV

Post-translational modifications for SEPSECS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for SEPSECS
  • Santa Cruz Biotechnology (SCBT) Antibodies for SEPSECS

Domains & Families for SEPSECS Gene

Gene Families for SEPSECS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for SEPSECS Gene

Suggested Antigen Peptide Sequences for SEPSECS Gene

GenScript: Design optimal peptide antigens:
  • Soluble liver antigen/liver pancreas antigen, isoform CRA_a (A1A4F3_HUMAN)
  • tRNA(Ser/Sec)-associated antigenic protein (SPCS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HD40

UniProtKB/Swiss-Prot:

SPCS_HUMAN :
  • Belongs to the SepSecS family.
Family:
  • Belongs to the SepSecS family.
genes like me logo Genes that share domains with SEPSECS: view

Function for SEPSECS Gene

Molecular function for SEPSECS Gene

UniProtKB/Swiss-Prot Function:
Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-tRNA(Sec) + selenophosphate = L-selenocysteinyl-tRNA(Sec) + 2 phosphate; Xref=Rhea:RHEA:25041, Rhea:RHEA-COMP:9743, Rhea:RHEA-COMP:9947, ChEBI:CHEBI:15377, ChEBI:CHEBI:16144, ChEBI:CHEBI:43474, ChEBI:CHEBI:78551, ChEBI:CHEBI:78573; EC=2.9.1.2; Evidence={ECO:0000269|PubMed:17142313};.

Enzyme Numbers (IUBMB) for SEPSECS Gene

Phenotypes From GWAS Catalog for SEPSECS Gene

Gene Ontology (GO) - Molecular Function for SEPSECS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA,ISS --
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 22190034
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with SEPSECS: view

Phenotypes for SEPSECS Gene

MGI mutant phenotypes for SEPSECS:
inferred from 1 alleles
GenomeRNAi human phenotypes for SEPSECS:
genes like me logo Genes that share phenotypes with SEPSECS: view

Human Phenotype Ontology for SEPSECS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPSECS

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SEPSECS Gene

Localization for SEPSECS Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPSECS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPSECS gene
Compartment Confidence
nucleus 4
cytosol 4
mitochondrion 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEPSECS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEPSECS: view

Pathways & Interactions for SEPSECS Gene

genes like me logo Genes that share pathways with SEPSECS: view

UniProtKB/Swiss-Prot Q9HD40-SPCS_HUMAN

  • Pathway: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 2/2.

Gene Ontology (GO) - Biological Process for SEPSECS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001514 selenocysteine incorporation ISS --
GO:0006412 translation IEA --
GO:0016259 selenocysteine metabolic process TAS --
GO:0097056 selenocysteinyl-tRNA(Sec) biosynthetic process IEA --
genes like me logo Genes that share ontologies with SEPSECS: view

No data available for SIGNOR curated interactions for SEPSECS Gene

Drugs & Compounds for SEPSECS Gene

(9) Drugs for SEPSECS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 18
Selenium Approved, Investigational, Vet_approved Pharma 247
Water Approved Pharma 0
Selenocysteine Experimental Pharma 0
Phosphate Experimental Pharma 0

(4) Additional Compounds for SEPSECS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphoroselenoic acid
  • [p(OH)3Se]
  • Selenophosphate
  • Selenophosphoric acid
  • Phosphoroselenoate
  • Monoselenophosphoric acid
25758-66-1
genes like me logo Genes that share compounds with SEPSECS: view

Transcripts for SEPSECS Gene

mRNA/cDNA for SEPSECS Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPSECS

Alternative Splicing Database (ASD) splice patterns (SP) for SEPSECS Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5: -
SP6:

Relevant External Links for SEPSECS Gene

GeneLoc Exon Structure for
SEPSECS

Expression for SEPSECS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEPSECS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPSECS Gene

This gene is overexpressed in Liver (x4.1).

Protein differential expression in normal tissues from HIPED for SEPSECS Gene

This gene is overexpressed in Testis (21.8), Peripheral blood mononuclear cells (10.9), and Liver (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEPSECS Gene



Protein tissue co-expression partners for SEPSECS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPSECS

SOURCE GeneReport for Unigene cluster for SEPSECS Gene:

Hs.253305

mRNA Expression by UniProt/SwissProt for SEPSECS Gene:

Q9HD40-SPCS_HUMAN
Tissue specificity: Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells.

Evidence on tissue expression from TISSUES for SEPSECS Gene

  • Liver(4.6)
  • Muscle(4.4)
  • Nervous system(4.3)
  • Kidney(2.6)
  • Pancreas(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPSECS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SEPSECS: view

Primer products for research

Orthologs for SEPSECS Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPSECS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEPSECS 29 30
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEPSECS 29 30
  • 94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEPSECS 29 30
  • 92.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sepsecs 29
  • 87.47 (n)
Mouse
(Mus musculus)
Mammalia Sepsecs 29 16 30
  • 86.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEPSECS 30
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 76 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Chicken
(Gallus gallus)
Aves SEPSECS 29 30
  • 80.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEPSECS 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sepsecs 29
  • 72.36 (n)
Zebrafish
(Danio rerio)
Actinopterygii sepsecs 29 30
  • 70.49 (n)
OneToOne
zgc55980 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG1427 29 30
  • 52.92 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003527 29
  • 51.28 (n)
Worm
(Caenorhabditis elegans)
Secernentea secs-1 29 30
  • 50.79 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 53 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.930 29
Species where no ortholog for SEPSECS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEPSECS Gene

ENSEMBL:
Gene Tree for SEPSECS (if available)
TreeFam:
Gene Tree for SEPSECS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPSECS: view image
Alliance of Genome Resources:
Additional Orthologs for SEPSECS

Paralogs for SEPSECS Gene

genes like me logo Genes that share paralogs with SEPSECS: view

No data available for Paralogs for SEPSECS Gene

Variants for SEPSECS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPSECS Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1028038 Uncertain Significance: Pontocerebellar hypoplasia type 2D 25,158,966(-) G/A
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)
MISSENSE
1031980 Pathogenic: Pontocerebellar hypoplasia type 2D 25,144,773(-) CCTTT/C
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)
FRAMESHIFT
810638 Uncertain Significance: Pontocerebellar hypoplasia type 2D 25,159,041(-) T/C
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val)
MISSENSE
851642 Pathogenic: not provided 25,156,134(-) C/CA
NM_016955.4(SEPSECS):c.449dup (p.Cys151fs)
FRAMESHIFT
852679 Pathogenic: not provided 25,151,992(-) G/A
NM_016955.4(SEPSECS):c.772C>T (p.Gln258Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEPSECS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEPSECS Gene

Variant ID Type Subtype PubMed ID
esv3599957 CNV loss 21293372
nsv1143080 CNV tandem duplication 24896259
nsv4277 CNV deletion 18451855
nsv819375 CNV loss 19587683

Variation tolerance for SEPSECS Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.12; 75.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPSECS Gene

Human Gene Mutation Database (HGMD)
SEPSECS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPSECS
Leiden Open Variation Database (LOVD)
SEPSECS

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPSECS Gene

Disorders for SEPSECS Gene

MalaCards: The human disease database

(28) MalaCards diseases for SEPSECS Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 2d
  • pch2d
pontocerebellar hypoplasia, type 2e
  • pch2e
autoimmune hepatitis
  • autoimmune chronic active hepatitis
spastic diplegia
  • cerebral spastic infantile paralysis
rigid spine muscular dystrophy 1
  • rsmd1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPCS_HUMAN
  • Pontocerebellar hypoplasia 2D (PCH2D) [MIM:613811]: A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures. {ECO:0000269 PubMed:20920667, ECO:0000269 PubMed:26115735}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SEPSECS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEPSECS: view

No data available for Genatlas for SEPSECS Gene

Publications for SEPSECS Gene

  1. Isolation and characterization of cDNA encoding the antigenic protein of the human tRNP(Ser)Sec complex recognized by autoantibodies from patients withtype-1 autoimmune hepatitis. (PMID: 10931155) Costa M … Gelpí C (Clinical and experimental immunology 2000) 2 3 4 22
  2. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. (PMID: 20920667) Agamy O … Birk OS (American journal of human genetics 2010) 3 4 72
  3. The human SepSecS-tRNASec complex reveals the mechanism of selenocysteine formation. (PMID: 19608919) Palioura S … Simonovic M (Science (New York, N.Y.) 2009) 2 3 4
  4. Biosynthesis of selenocysteine on its tRNA in eukaryotes. (PMID: 17194211) Xu XM … Hatfield DL (PLoS biology 2007) 2 3 22
  5. RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea. (PMID: 17142313) Yuan J … Söll D (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 4

Products for SEPSECS Gene

Sources for SEPSECS Gene