This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] See more...

Aliases for SEC31B Gene

Aliases for SEC31B Gene

  • SEC31 Homolog B, COPII Coat Complex Component 2 3 5
  • Protein Transport Protein Sec31B 3 4
  • SEC31-Related Protein B 3 4
  • SEC31-Like Protein 2 3 4
  • SEC31B-1 3 4
  • SEC31L2 3 4
  • SEC31 Homolog B, COPII Coating Complex Component 3
  • Secretory Pathway Component Sec31B-1 3
  • SEC31 Homolog B (S. Cerevisiae) 2
  • SEC31-Like 2 (S. Cerevisiae) 2
  • SEC31-Like 2 3

External Ids for SEC31B Gene

Previous HGNC Symbols for SEC31B Gene

  • SEC31L2

Previous GeneCards Identifiers for SEC31B Gene

  • GC10M102237
  • GC10M095875

Summaries for SEC31B Gene

Entrez Gene Summary for SEC31B Gene

  • This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEC31B Gene

SEC31B (SEC31 Homolog B, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC31B include Retinitis Pigmentosa 37 and Immunoglobulin A Deficiency 1. Among its related pathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. An important paralog of this gene is SEC31A.

UniProtKB/Swiss-Prot Summary for SEC31B Gene

  • As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum.

Additional gene information for SEC31B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEC31B Gene

Genomics for SEC31B Gene

GeneHancer (GH) Regulatory Elements for SEC31B Gene

Promoters and enhancers for SEC31B 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
GH10J100518 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 539.8 +0.4 363 1.4 CTCF SAP30 REST TGIF2 RAD21 ZBTB26 SMC3 ZNF263 TFDP1 SAP130 SEC31B WNT8B BLOC1S2 CWF19L1 lnc-NDUFB8-5 ENSG00000255339
GH10J100506 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 551.2 +9.9 9863 7.6 CTCF JUND FOS REST RAD21 SMC3 MXI1 DEK MYNN FOSL2 SEC31B SCD ENSG00000231188 lnc-NDUFB8-4 lnc-NDUFB8-8 ENSG00000255339
GH10J100526 Promoter 0.4 EPDnew 500.4 -6.6 -6581 0.1 POLR2A lnc-NDUFB8-6 SEC31B ENSG00000255339 NDUFB8
GH10J100517 Enhancer 0.3 dbSUPER 500.7 +1.9 1857 0.6 ZNF189 SEC31B lnc-NDUFB8-5 ENSG00000255339
GH10J100535 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 46.9 -16.4 -16417 2.2 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 POLR2G SP1 PHF8 HIF1AN SEC31B SLF2 SEMA4G lnc-NDUFB8-1 NDUFB8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC31B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC31B

Top Transcription factor binding sites by QIAGEN in the SEC31B gene promoter:
  • c-Myc
  • CBF(2)
  • CUTL1
  • Max
  • MIF-1
  • NF-Y
  • RP58
  • SRF
  • SRF (504 AA)
  • Tal-1beta

Genomic Locations for SEC31B Gene

Genomic Locations for SEC31B Gene
chr10:100,486,646-100,519,864
(GRCh38/hg38)
Size:
33,219 bases
Orientation:
Minus strand
chr10:102,246,399-102,289,628
(GRCh37/hg19)
Size:
43,230 bases
Orientation:
Minus strand

Genomic View for SEC31B Gene

Genes around SEC31B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC31B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC31B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC31B Gene

Proteins for SEC31B Gene

  • Protein details for SEC31B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQW1-SC31B_HUMAN
    Recommended name:
    Protein transport protein Sec31B
    Protein Accession:
    Q9NQW1
    Secondary Accessions:
    • B7ZM75
    • Q6MZS3
    • Q86UF0
    • Q9Y4Q8

    Protein attributes for SEC31B Gene

    Size:
    1179 amino acids
    Molecular mass:
    128697 Da
    Quaternary structure:
    • COPII is composed of at least 5 proteins: the SEC23/24 complex, the SEC13/31 complex and SAR1. SEC13 and SEC31 make a 2:2 tetramer that forms the edge element of the COPII outer coat. The tetramer self-assembles in multiple copies to form the complete polyhedral cage. Interacts (via WD 8) with SEC13 (By similarity). Interacts with SEC31A.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SEC31B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC31B Gene

Post-translational modifications for SEC31B Gene

  • Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEC31B Gene

No data available for DME Specific Peptides for SEC31B Gene

Domains & Families for SEC31B Gene

Gene Families for SEC31B Gene

Suggested Antigen Peptide Sequences for SEC31B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60494, highly similar to Homo sapiens SEC31-like 2 (SEC31L2), transcript variant 1, mRNA (B4DGE3_HUMAN)
  • cDNA FLJ61548, highly similar to Homo sapiens SEC31-like 2 (SEC31L2), transcript variant 1, mRNA (B4E2H6_HUMAN)
  • SEC31B-1 (SC31B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQW1

UniProtKB/Swiss-Prot:

SC31B_HUMAN :
  • Belongs to the WD repeat SEC31 family.
Family:
  • Belongs to the WD repeat SEC31 family.
genes like me logo Genes that share domains with SEC31B: view

Function for SEC31B Gene

Molecular function for SEC31B Gene

UniProtKB/Swiss-Prot Function:
As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum.

Phenotypes From GWAS Catalog for SEC31B Gene

Gene Ontology (GO) - Molecular Function for SEC31B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA 21873635
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SEC31B: view
genes like me logo Genes that share phenotypes with SEC31B: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC31B Gene

Localization for SEC31B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC31B Gene

Cytoplasm. Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane; Peripheral 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 SEC31B gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC31B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane IEA --
genes like me logo Genes that share ontologies with SEC31B: view

Pathways & Interactions for SEC31B Gene

PathCards logo

SuperPathways for SEC31B Gene

SuperPathway Contained pathways
1 wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
.33
.33
.33
.32
2 Protein processing in endoplasmic reticulum
3 Sterol Regulatory Element-Binding Proteins (SREBP) signalling
genes like me logo Genes that share pathways with SEC31B: view

Pathways by source for SEC31B Gene

1 KEGG pathway for SEC31B Gene
4 GeneGo (Thomson Reuters) pathways for SEC31B Gene
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Gene Ontology (GO) - Biological Process for SEC31B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport IEA,IBA 21873635
GO:0007029 endoplasmic reticulum organization IBA 21873635
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with SEC31B: view

No data available for SIGNOR curated interactions for SEC31B Gene

Drugs & Compounds for SEC31B Gene

No Compound Related Data Available

Transcripts for SEC31B Gene

mRNA/cDNA for SEC31B Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEC31B Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - -
SP7: - - -
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 16 ^ 17 ^ 18a · 18b · 18c · 18d ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b · 24c · 24d ^ 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - -
SP6:
SP7: - - -
SP8:
SP9: - -
SP10: - -
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:

ExUns: 29a · 29b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for SEC31B Gene

GeneLoc Exon Structure for
SEC31B

Expression for SEC31B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEC31B Gene

Protein differential expression in normal tissues from HIPED for SEC31B Gene

This gene is overexpressed in Liver (59.4) and Heart (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SEC31B Gene



Protein tissue co-expression partners for SEC31B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC31B

SOURCE GeneReport for Unigene cluster for SEC31B Gene:

Hs.18889

mRNA Expression by UniProt/SwissProt for SEC31B Gene:

Q9NQW1-SC31B_HUMAN
Tissue specificity: Ubiquitously expressed at low levels with specific expression in thymus and testis. Expressed in testis by Sertoli cells, Leydig cells and spermatogonia and in cerebellum more prominently by Purkinje and granular cells (at protein level).

Evidence on tissue expression from TISSUES for SEC31B Gene

  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with SEC31B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC31B Gene

Orthologs for SEC31B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEC31B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEC31B 31 30
  • 97.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEC31B 31 30
  • 87.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEC31B 31 30
  • 87.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sec31b 30
  • 83.19 (n)
mouse
(Mus musculus)
Mammalia Sec31b 17 31 30
  • 82.66 (n)
oppossum
(Monodelphis domestica)
Mammalia SEC31B 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 62 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves SEC31B 31 30
  • 65.3 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sec31b 30
  • 60.58 (n)
zebrafish
(Danio rerio)
Actinopterygii sec31b 31 30
  • 58.82 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sec31 31
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sec-31 31
  • 22 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR090W 30
  • 43.91 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05159g 30
  • 43.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC31 31 30
  • 41.41 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G63460 30
  • 47 (n)
rice
(Oryza sativa)
Liliopsida Os07g0657200 30
  • 44.59 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06738 30
  • 46.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec31 30
  • 41.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8708 31
  • 37 (a)
OneToMany
Species where no ortholog for SEC31B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEC31B Gene

ENSEMBL:
Gene Tree for SEC31B (if available)
TreeFam:
Gene Tree for SEC31B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC31B: view image

Paralogs for SEC31B Gene

Paralogs for SEC31B Gene

(1) SIMAP similar genes for SEC31B Gene using alignment to 5 proteins:

  • SC31B_HUMAN
  • B4DGE3_HUMAN
  • B4E2H6_HUMAN
  • E9PKR7_HUMAN
  • F6TTE0_HUMAN
genes like me logo Genes that share paralogs with SEC31B: view

Variants for SEC31B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC31B Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11819496 - p.Arg478Thr
rs17113157 - p.Ser527Arg
rs2295771 - p.Arg433Gln
rs2295772 - p.Pro372Ser
rs2295774 - p.Ser332Ala

Additional dbSNP identifiers (rs#s) for SEC31B Gene

Structural Variations from Database of Genomic Variants (DGV) for SEC31B Gene

Variant ID Type Subtype PubMed ID
esv2759779 CNV gain+loss 17122850
esv34217 CNV gain 17911159
esv3624362 CNV gain 21293372
nsv1120227 CNV tandem duplication 24896259
nsv7519 CNV insertion 18451855
nsv818783 CNV gain 17921354
nsv831962 CNV gain 17160897
nsv831963 CNV loss 17160897
nsv8723 CNV gain 18304495

Variation tolerance for SEC31B Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.31; 98.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC31B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC31B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC31B Gene

Disorders for SEC31B Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEC31B Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 37
  • rp37
immunoglobulin a deficiency 1
  • igad1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEC31B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SEC31B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC31B Gene

Publications for SEC31B Gene

  1. Human Sec31B: a family of new mammalian orthologues of yeast Sec31p that associate with the COPII coat. (PMID: 16495487) Stankewich MC … Morrow JS (Journal of cell science 2006) 2 3 4 54
  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 54
  3. Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport. (PMID: 10788476) Tang BL … Hong W (The Journal of biological chemistry 2000) 3 4 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

Products for SEC31B Gene

Sources for SEC31B Gene