The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] See more...

Aliases for SEC61A2 Gene

Aliases for SEC61A2 Gene

  • SEC61 Translocon Subunit Alpha 2 2 3 5
  • Protein Transport Protein Sec61 Subunit Alpha Isoform 2 3 4
  • Sec61 Alpha-2 3 4
  • Protein Transport Protein Sec61 Subunit Alpha 3
  • Sec61 Alpha 2 Subunit (S. Cerevisiae) 2
  • SEC61 Translocon Alpha 2 Subunit 3
  • Sec61 Alpha 2 Subunit 3
  • Sec61 Alpha Form 2 3
  • FLJ10578 2
  • SEC61A2 5

External Ids for SEC61A2 Gene

Previous GeneCards Identifiers for SEC61A2 Gene

  • GC10P012056
  • GC00U912983
  • GC10P012175
  • GC10P012211
  • GC10P012171
  • GC10P012088

Summaries for SEC61A2 Gene

Entrez Gene Summary for SEC61A2 Gene

  • The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

GeneCards Summary for SEC61A2 Gene

SEC61A2 (SEC61 Translocon Subunit Alpha 2) is a Protein Coding gene. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Phagosome. Gene Ontology (GO) annotations related to this gene include ribosome binding. An important paralog of this gene is SEC61A1.

UniProtKB/Swiss-Prot Summary for SEC61A2 Gene

  • Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC61A2 Gene

Genomics for SEC61A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEC61A2 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
GH10J012128 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 261 -0.2 -236 3.2 TBP ZBTB10 NR2C1 SMAD5 ZFP64 CTCF NONO ZIC2 THAP11 ZNF395 SEC61A2 MIR548AK DHTKD1 UPF2 NUDT5 HSALNG0076211 HSALNG0076201
GH10J012179 Enhancer 0.6 Ensembl ENCODE 21.2 +51.1 51064 4.2 SPI1 POLR2A MYC MAX CTCF TAF1 SEC61A2 DHTKD1 NUDT5 HSALNG0076221 piR-43105-037 CDC123 HSALNG0076222 HSALNG0076201
GH10J012073 Enhancer 0.9 Ensembl ENCODE 11.8 -53.1 -53072 6.1 TRIM22 RXRA EBF1 ZNF316 SPI1 BHLHE40 MYC JUND MAX ZNF24 UPF2 SEC61A2 NUDT5 PROSER2-AS1 HSALNG0076207 DHTKD1 lnc-UPF2-1 HSALNG0076201
GH10J012193 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 4.9 +66.5 66464 4.6 CHD2 TBP MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT IKZF1 BRCA1 NUDT5 CDC123 HSALNG0076222 HSALNG0076225 DHTKD1 SEC61A2 CAMK1D HSALNG0076201
GH10J012022 Enhancer 0.8 Ensembl ENCODE 11.8 -106.8 -106836 1.6 IRF4 BHLHE40 BATF ZNF24 HDGF ATF2 JUNB ZNF217 ARID3A ZEB2 piR-60051-007 UPF2 DHTKD1 SEC61A2 HSALNG0076203 HSALNG0076201 PROSER2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC61A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC61A2

Top Transcription factor binding sites by QIAGEN in the SEC61A2 gene promoter:
  • AML1a
  • Brachyury
  • C/EBPalpha
  • FOXD1
  • FOXL1
  • HSF1 (long)
  • HSF1short
  • IRF-1
  • Pax-2
  • Pax-2a

Genomic Locations for SEC61A2 Gene

Latest Assembly
chr10:12,129,637-12,169,961
(GRCh38/hg38)
Size:
40,325 bases
Orientation:
Plus strand

Previous Assembly
chr10:12,171,640-12,211,957
(GRCh37/hg19 by Entrez Gene)
Size:
40,318 bases
Orientation:
Plus strand

chr10:12,171,636-12,211,960
(GRCh37/hg19 by Ensembl)
Size:
40,325 bases
Orientation:
Plus strand

Genomic View for SEC61A2 Gene

Genes around SEC61A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC61A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC61A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC61A2 Gene

Proteins for SEC61A2 Gene

  • Protein details for SEC61A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9S3-S61A2_HUMAN
    Recommended name:
    Protein transport protein Sec61 subunit alpha isoform 2
    Protein Accession:
    Q9H9S3
    Secondary Accessions:
    • A8K8D0
    • B4DX72
    • F8W773

    Protein attributes for SEC61A2 Gene

    Size:
    476 amino acids
    Molecular mass:
    52248 Da
    Quaternary structure:
    • Heterotrimeric complex composed of SEC61-alpha, SEC61-beta and SEC61-gamma.

    Alternative splice isoforms for SEC61A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC61A2 Gene

Post-translational modifications for SEC61A2 Gene

  • Ubiquitination at Lys4
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC61A2 Gene

Domains & Families for SEC61A2 Gene

Gene Families for SEC61A2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SEC61A2 Gene

InterPro:
Blocks:
  • SecY protein
ProtoNet:

Suggested Antigen Peptide Sequences for SEC61A2 Gene

GenScript: Design optimal peptide antigens:
  • Protein transport protein Sec61 subunit alpha isoform 2 (S61A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9S3

UniProtKB/Swiss-Prot:

S61A2_HUMAN :
  • Belongs to the SecY/SEC61-alpha family.
Family:
  • Belongs to the SecY/SEC61-alpha family.
genes like me logo Genes that share domains with SEC61A2: view

Function for SEC61A2 Gene

Molecular function for SEC61A2 Gene

UniProtKB/Swiss-Prot Function:
Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity).

Phenotypes From GWAS Catalog for SEC61A2 Gene

Gene Ontology (GO) - Molecular Function for SEC61A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005048 signal sequence binding IBA 21873635
GO:0005515 protein binding IPI --
GO:0008320 protein transmembrane transporter activity IBA 21873635
GO:0043022 ribosome binding IBA 21873635
genes like me logo Genes that share ontologies with SEC61A2: view
genes like me logo Genes that share phenotypes with SEC61A2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SEC61A2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC61A2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC61A2 Gene

Localization for SEC61A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC61A2 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

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 SEC61A2 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 4
plasma membrane 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SEC61A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005784 Sec61 translocon complex IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SEC61A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEC61A2 Gene

Pathways & Interactions for SEC61A2 Gene

genes like me logo Genes that share pathways with SEC61A2: view

Pathways by source for SEC61A2 Gene

3 GeneGo (Thomson Reuters) pathways for SEC61A2 Gene
  • Immune response Antigen presentation by MHC class I
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR
1 Qiagen pathway for SEC61A2 Gene
  • Cholera Infection

Gene Ontology (GO) - Biological Process for SEC61A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation IBA 21873635
GO:0008150 biological_process ND --
GO:0015031 protein transport IEA --
GO:0031204 posttranslational protein targeting to membrane, translocation IBA 21873635
genes like me logo Genes that share ontologies with SEC61A2: view

No data available for SIGNOR curated interactions for SEC61A2 Gene

Drugs & Compounds for SEC61A2 Gene

No Compound Related Data Available

Transcripts for SEC61A2 Gene

mRNA/cDNA for SEC61A2 Gene

3 REFSEQ mRNAs :
10 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 SEC61A2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SEC61A2 Gene

No ASD Table

Relevant External Links for SEC61A2 Gene

GeneLoc Exon Structure for
SEC61A2

Expression for SEC61A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC61A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC61A2 Gene

This gene is overexpressed in Testis (37.9), Ovary (9.6), Retina (9.6), and Frontal cortex (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC61A2 Gene



Protein tissue co-expression partners for SEC61A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC61A2

SOURCE GeneReport for Unigene cluster for SEC61A2 Gene:

Hs.112955

Evidence on tissue expression from TISSUES for SEC61A2 Gene

  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with SEC61A2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC61A2 Gene

Orthologs for SEC61A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC61A2 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia SEC61A2 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEC61A2 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia SEC61A2 30 31
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEC61A2 30 31
  • 92.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEC61A2 30 31
  • 92.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sec61a2 30 17 31
  • 90.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sec61a2 30
  • 90.34 (n)
Chicken
(Gallus gallus)
Aves SEC61A2 30 31
  • 85.05 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Sec61alpha 30 31
  • 74.93 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009182 30
  • 72.86 (n)
Worm
(Caenorhabditis elegans)
Secernentea sec-61 31
  • 87 (a)
OneToMany
CELE_Y57G11C.15 30
  • 71.88 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC61 31
  • 54 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G78720 30
  • 65.67 (n)
Soybean
(Glycine max)
eudicotyledons Gma.2468 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11324 31
  • 80 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4836 30
Species where no ortholog for SEC61A2 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for SEC61A2 Gene

ENSEMBL:
Gene Tree for SEC61A2 (if available)
TreeFam:
Gene Tree for SEC61A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC61A2: view image

Paralogs for SEC61A2 Gene

Paralogs for SEC61A2 Gene

(1) SIMAP similar genes for SEC61A2 Gene using alignment to 10 proteins:

  • S61A2_HUMAN
  • A6NIF9_HUMAN
  • A6NK38_HUMAN
  • C9JJV4_HUMAN
  • F2Z2C7_HUMAN
  • F8W776_HUMAN
  • H7C069_HUMAN
  • H7C1Q9_HUMAN
  • H7C1S8_HUMAN
  • Q8TC24_HUMAN
genes like me logo Genes that share paralogs with SEC61A2: view

Variants for SEC61A2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC61A2 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 SEC61A2 Gene

Variant ID Type Subtype PubMed ID
dgv673n100 CNV gain 25217958
dgv674n100 CNV gain 25217958
esv2675175 CNV deletion 23128226
esv2733095 CNV deletion 23290073
esv3622362 CNV loss 21293372
nsv1035709 CNV gain 25217958
nsv5820 CNV insertion 18451855
nsv958547 CNV deletion 24416366

Variation tolerance for SEC61A2 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 69.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC61A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC61A2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC61A2 Gene

Disorders for SEC61A2 Gene

Additional Disease Information for SEC61A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SEC61A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEC61A2 Gene

Publications for SEC61A2 Gene

  1. Control of translocation through the Sec61 translocon by nascent polypeptide structure within the ribosome. (PMID: 18480044) Daniel CJ … Skach WR (The Journal of biological chemistry 2008) 2 3
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The Sec61 complex is located in both the ER and the ER-Golgi intermediate compartment. (PMID: 10212142) Greenfield JJ … High S (Journal of cell science 1999) 2 3
  5. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3

Products for SEC61A2 Gene

Sources for SEC61A2 Gene