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IGSF9B immunoglobulin superfamily member 9B [ Homo sapiens (human) ]

Gene ID: 22997, updated on 28-Nov-2019

Summary

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Official Symbol
IGSF9Bprovided by HGNC
Official Full Name
immunoglobulin superfamily member 9Bprovided by HGNC
Primary source
HGNC:HGNC:32326
See related
Ensembl:ENSG00000080854 MIM:613773
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Broad expression in brain (RPKM 1.7), testis (RPKM 1.1) and 21 other tissues See more
Orthologs
mouse all

Genomic context

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See IGSF9B in Genome Data Viewer
Location:
11q25
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (133908410..133956960, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (133778520..133826649, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene calponin 2 pseudogene Neighboring gene MIR4697 host gene Neighboring gene microRNA 4697 Neighboring gene long intergenic non-protein coding RNA 2730 Neighboring gene long intergenic non-protein coding RNA 2731

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Role of 108 schizophrenia-associated loci in modulating psychopathological dimensions in schizophrenia and bipolar disorder. Fabbri C, et al. Am J Med Genet B Neuropsychiatr Genet, 2017 Oct. PMID 28786528
  2. Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course. Gil-Varea E, et al. J Neuroinflammation, 2018 Sep 14. PMID 30217166, Free PMC Article
  3. 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. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851
  4. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium.. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
  5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article

See all (11) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Genetic variants located in IGSF9B has the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses.
    Title: Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course.
  2. Polymorphism in IGSF9B gene is associated with schizophrenia and bipolar disorder.
    Title: Role of 108 schizophrenia-associated loci in modulating psychopathological dimensions in schizophrenia and bipolar disorder.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1030

Gene Ontology Provided by GOA

Function Evidence Code Pubs
kinase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
  
nervous system development IEA
Inferred from Electronic Annotation
more info
  
positive regulation of inhibitory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
synaptic membrane adhesion IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
cell junction IEA
Inferred from Electronic Annotation
more info
  
dendrite IEA
Inferred from Electronic Annotation
more info
  
inhibitory synapse IEA
Inferred from Electronic Annotation
more info
  
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
postsynaptic specialization of symmetric synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein turtle homolog B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001277285.3 → NP_001264214.1  protein turtle homolog B precursor

    Status: VALIDATED

    Source sequence(s)
    AP000911, AP001979
    Consensus CDS
    CCDS61010.1
    UniProtKB/Swiss-Prot
    Q9UPX0
    UniProtKB/TrEMBL
    Q8N7W7
    Related
    ENSP00000436552.2, ENST00000533871.7
    Conserved Domains (6) summary
    cd00096
    Location:41 → 115
    Ig; Immunoglobulin domain
    smart00408
    Location:153 → 210
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:426 → 505
    IG_like; Immunoglobulin like
    cd00063
    Location:510 → 601
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:139 → 225
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:442 → 505
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    133908410..133956960 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542695.2 → XP_011540997.1  protein turtle homolog B isoform X7

    Conserved Domains (6) summary
    cd00096
    Location:41 → 115
    Ig; Immunoglobulin domain
    smart00408
    Location:153 → 210
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:426 → 505
    IG_like; Immunoglobulin like
    cd00063
    Location:510 → 605
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:139 → 225
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:442 → 505
    Ig; Immunoglobulin domain

  2. XM_011542692.3 → XP_011540994.1  protein turtle homolog B isoform X2

    Conserved Domains (6) summary
    cd00096
    Location:139 → 213
    Ig; Immunoglobulin domain
    smart00408
    Location:251 → 308
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:524 → 603
    IG_like; Immunoglobulin like
    cd00063
    Location:608 → 699
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:237 → 323
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:533 → 603
    Ig; Immunoglobulin domain

  3. XM_011542691.3 → XP_011540993.1  protein turtle homolog B isoform X1

    Conserved Domains (6) summary
    cd00096
    Location:139 → 213
    Ig; Immunoglobulin domain
    smart00408
    Location:251 → 308
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:524 → 603
    IG_like; Immunoglobulin like
    cd00063
    Location:608 → 703
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:237 → 323
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:533 → 603
    Ig; Immunoglobulin domain

  4. XM_017017393.1 → XP_016872882.1  protein turtle homolog B isoform X3

  5. XM_024448402.1 → XP_024304170.1  protein turtle homolog B isoform X8

    Conserved Domains (5) summary
    cd00063
    Location:352 → 447
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam13927
    Location:70 → 149
    Ig_3; Immunoglobulin domain
    cd00096
    Location:1 → 64
    Ig; Immunoglobulin domain
    cl11960
    Location:195 → 256
    Ig; Immunoglobulin domain
    cl26464
    Location:740 → 1088
    Atrophin-1; Atrophin-1 family

  6. XM_017017396.1 → XP_016872885.1  protein turtle homolog B isoform X9

  7. XM_006718795.3 → XP_006718858.1  protein turtle homolog B isoform X10

    Conserved Domains (1) summary
    cd00063
    Location:93 → 175
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

  8. XM_011542694.3 → XP_011540996.1  protein turtle homolog B isoform X4

    Conserved Domains (6) summary
    cd00096
    Location:139 → 213
    Ig; Immunoglobulin domain
    smart00408
    Location:251 → 308
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:524 → 603
    IG_like; Immunoglobulin like
    cd00063
    Location:608 → 703
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:237 → 323
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:533 → 603
    Ig; Immunoglobulin domain

  9. XM_017017395.2 → XP_016872884.1  protein turtle homolog B isoform X6

  10. XM_017017394.2 → XP_016872883.1  protein turtle homolog B isoform X5

RNA

  1. XR_947812.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014987.1: Suppressed sequence

    Description
    NM_014987.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears to be partial on the 3' end.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UPX0.2 GenPept UniProtKB/Swiss-Prot:Q9UPX0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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