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

Summary

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
Also known as: LINC00947; MIR4697HG
Summary: Predicted to enable kinase binding activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within homophilic cell adhesion via plasma membrane adhesion molecules and positive regulation of inhibitory postsynaptic potential. Predicted to be located in dendrite; inhibitory synapse; and neuronal cell body. Predicted to be active in GABA-ergic synapse; neuron projection; and postsynaptic specialization of symmetric synapse. [provided by Alliance of Genome Resources, Nov 2021]
Expression: Broad expression in brain (RPKM 1.7), testis (RPKM 1.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q25

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (133896438..133956968, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (133766333..133826863, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The transcriptional level of MIR4697HG in cancerous tissues increased twofold compared with that in adjacent noncancerous tissues. MIR4697HG was differentially expressed in ovarian cancer cell lines, with the highest levels in OVCAR3 and SKOV3 cells.
Title: Long Noncoding RNA MIR4697HG Promotes Cell Growth and Metastasis in Human Ovarian Cancer.
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.
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

Associated conditions

Description	Tests
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S4112 (e-PCR)
- UniSTS:40226

D11S968 (e-PCR), detects polymorphism
- UniSTS:53310

SHGC-147741 (e-PCR)
- UniSTS:175980

SHGC-150570 (e-PCR)
- UniSTS:173171

D11S3815 (e-PCR)
- UniSTS:153045

D11S968 (e-PCR), detects polymorphism
- UniSTS:88033

Homology

Homologs of the IGSF9B gene: The IGSF9B gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 408 organisms have orthologs with human gene IGSF9B
Orthologs

Clone Names

FLJ41855, KIAA1030, MGC117185, MGC126740, DKFZp434N079, DKFZp686C19121

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in 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

Names: MIR4697 host gene (non-protein coding); long intergenic non-protein coding RNA 947

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)

NM_001277285.4 → 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, ENST00000533871.8

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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p13 Primary Assembly

Range

133896438..133956968 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001001873.3: Suppressed sequence

Description

NM_001001873.3: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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.