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Aliases for IGSF9B Gene

Aliases for IGSF9B Gene

  • Immunoglobulin Superfamily Member 9B 2 3 4 5
  • Immunoglobulin Superfamily, Member 9B 2
  • KIAA1030 4
  • IgSF9B 4

External Ids for IGSF9B Gene

Previous GeneCards Identifiers for IGSF9B Gene

  • GC11M133291
  • GC11M133785
  • GC11M129739

Summaries for IGSF9B Gene

GeneCards Summary for IGSF9B Gene

IGSF9B (Immunoglobulin Superfamily Member 9B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include kinase binding. An important paralog of this gene is IGSF9.

UniProtKB/Swiss-Prot for IGSF9B Gene

  • Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion.

Additional gene information for IGSF9B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGSF9B Gene

Genomics for IGSF9B Gene

GeneHancer (GH) Regulatory Elements for IGSF9B Gene

Promoters and enhancers for IGSF9B 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
GH11I133956 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 567.1 -0.1 -140 1.9 PKNOX1 RB1 ZNF76 ETS1 ZNF335 GLIS2 ZNF207 ZNF143 FOS SMARCA5 IGSF9B PIR59375 GC11P133904
GH11I133955 Promoter/Enhancer 1 Ensembl dbSUPER 550.8 +1.1 1084 0.2 ZNF335 MXI1 GLIS1 ZIC2 ZBTB26 EZH2 ZBTB20 IGSF9B PIR42635 GC11P133904
GH11I133946 Enhancer 1.1 Ensembl ENCODE dbSUPER 26.6 +9.2 9216 3 CTCF PKNOX1 MXI1 ZBTB6 ZSCAN4 SIN3A EBF1 ZIC2 POLR2A ZNF366 IGSF9B PIR42635 GC11P133904
GH11I134036 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 15.8 -81.3 -81260 4 PKNOX1 SIN3A YY1 ZNF335 GLIS2 EGR1 KLF13 EGR2 SP3 SP5 LOC105369582 IGSF9B JAM3 GLB1L3 LOC100128239
GH11I133950 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +5.4 5415 2.2 ZBTB6 ZSCAN4 MAX ZIC2 HIC1 ZNF335 ZFHX2 GLIS2 POLR2A ZNF366 IGSF9B PIR42635 GC11P133904
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IGSF9B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGSF9B gene promoter:

Genomic Locations for IGSF9B Gene

Genomic Locations for IGSF9B Gene
chr11:133,908,302-133,956,985
(GRCh38/hg38)
Size:
48,684 bases
Orientation:
Minus strand
chr11:133,778,459-133,826,880
(GRCh37/hg19)

Genomic View for IGSF9B Gene

Genes around IGSF9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGSF9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGSF9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF9B Gene

Proteins for IGSF9B Gene

  • Protein details for IGSF9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPX0-TUTLB_HUMAN
    Recommended name:
    Protein turtle homolog B
    Protein Accession:
    Q9UPX0
    Secondary Accessions:
    • G5EA26

    Protein attributes for IGSF9B Gene

    Size:
    1349 amino acids
    Molecular mass:
    147089 Da
    Quaternary structure:
    • Found in a complex with MAGI2 and NLGN2, where it interacts with MAGI2 (via PDZ 5 and PDZ 6 domains).

    Alternative splice isoforms for IGSF9B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGSF9B Gene

Post-translational modifications for IGSF9B Gene

  • N-glycosylated and sialylated. Not significantly O-glycosylated.
  • Glycosylation at isoforms=2241, posLast=258258, and posLast=624624

No data available for DME Specific Peptides for IGSF9B Gene

Domains & Families for IGSF9B Gene

Suggested Antigen Peptide Sequences for IGSF9B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPX0

UniProtKB/Swiss-Prot:

TUTLB_HUMAN :
  • Belongs to the immunoglobulin superfamily. Turtle family.
Family:
  • Belongs to the immunoglobulin superfamily. Turtle family.
genes like me logo Genes that share domains with IGSF9B: view

Function for IGSF9B Gene

Molecular function for IGSF9B Gene

UniProtKB/Swiss-Prot Function:
Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion.

Phenotypes From GWAS Catalog for IGSF9B Gene

Gene Ontology (GO) - Molecular Function for IGSF9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with IGSF9B: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IGSF9B Gene

Localization for IGSF9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGSF9B Gene

Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density.

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 IGSF9B gene
Compartment Confidence
plasma membrane 5
nucleus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IGSF9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with IGSF9B: view

Pathways & Interactions for IGSF9B Gene

SuperPathways for IGSF9B Gene

No Data Available

Interacting Proteins for IGSF9B Gene

Gene Ontology (GO) - Biological Process for IGSF9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007399 nervous system development IEA --
GO:0097151 positive regulation of inhibitory postsynaptic potential IEA --
genes like me logo Genes that share ontologies with IGSF9B: view

No data available for Pathways by source and SIGNOR curated interactions for IGSF9B Gene

Drugs & Compounds for IGSF9B Gene

No Compound Related Data Available

Transcripts for IGSF9B Gene

mRNA/cDNA for IGSF9B Gene

Unigene Clusters for IGSF9B Gene

Immunoglobulin superfamily, member 9B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGSF9B Gene

No ASD Table

Relevant External Links for IGSF9B Gene

GeneLoc Exon Structure for
IGSF9B
ECgene alternative splicing isoforms for
IGSF9B

Expression for IGSF9B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGSF9B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IGSF9B Gene

This gene is overexpressed in Frontal cortex (45.1) and Retina (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IGSF9B Gene



Protein tissue co-expression partners for IGSF9B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IGSF9B Gene:

IGSF9B

SOURCE GeneReport for Unigene cluster for IGSF9B Gene:

Hs.204121

Evidence on tissue expression from TISSUES for IGSF9B Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with IGSF9B: view

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 IGSF9B Gene

Orthologs for IGSF9B Gene

This gene was present in the common ancestor of animals.

Orthologs for IGSF9B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGSF9B 33 34
  • 97.58 (n)
dog
(Canis familiaris)
Mammalia IGSF9B 33 34
  • 91.34 (n)
rat
(Rattus norvegicus)
Mammalia Igsf9b 33
  • 89.88 (n)
cow
(Bos Taurus)
Mammalia IGSF9B 33 34
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Igsf9b 33 16 34
  • 89.46 (n)
oppossum
(Monodelphis domestica)
Mammalia IGSF9B 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGSF9B 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGSF9B 33 34
  • 81.68 (n)
lizard
(Anolis carolinensis)
Reptilia IGSF9B 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igsf9b 33
  • 69.08 (n)
zebrafish
(Danio rerio)
Actinopterygii igsf9bb 33 34
  • 70.08 (n)
igsf9ba 34
  • 64 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13476 33
fruit fly
(Drosophila melanogaster)
Insecta CG16857 34
  • 26 (a)
ManyToMany
tutl 34
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea igcm-2 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for IGSF9B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • 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 IGSF9B Gene

ENSEMBL:
Gene Tree for IGSF9B (if available)
TreeFam:
Gene Tree for IGSF9B (if available)

Paralogs for IGSF9B Gene

Paralogs for IGSF9B Gene

(5) SIMAP similar genes for IGSF9B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with IGSF9B: view

Variants for IGSF9B Gene

Sequence variations from dbSNP and Humsavar for IGSF9B Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000047841 -- 133,935,404(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000113208 -- 133,916,409(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000171208 -- 133,950,107(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000229479 -- 133,916,098(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000309837 -- 133,938,354(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IGSF9B Gene

Variant ID Type Subtype PubMed ID
nsv952766 CNV deletion 24416366
nsv952765 CNV deletion 24416366
nsv826146 CNV gain 20364138
nsv826145 CNV loss 20364138
nsv826144 CNV gain 20364138
nsv556595 CNV loss 21841781
nsv468900 CNV loss 19166990
nsv1110200 CNV duplication 24896259
nsv1070997 CNV deletion 25765185
nsv1051677 CNV gain 25217958
esv275426 CNV gain+loss 21479260
esv2745310 CNV deletion 23290073
esv2745309 CNV deletion 23290073
esv2745307 CNV deletion 23290073
dgv728e59 CNV duplication 20981092
dgv1301n100 CNV gain 25217958

Variation tolerance for IGSF9B Gene

Residual Variation Intolerance Score: 2.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGSF9B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGSF9B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGSF9B Gene

Disorders for IGSF9B Gene

Additional Disease Information for IGSF9B

No disorders were found for IGSF9B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IGSF9B Gene

Publications for IGSF9B Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58
  2. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. (PMID: 26506222) Park HJ … Choi BO (Annals of neurology 2016) 4 58
  3. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 58

Products for IGSF9B Gene

Sources for IGSF9B Gene

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