IGSF9 immunoglobulin superfamily member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGSF9provided by HGNC
Official Full Name: immunoglobulin superfamily member 9provided by HGNC
Primary source: HGNC:HGNC:18132
See related: Ensembl:ENSG00000085552 MIM:609738; AllianceGenome:HGNC:18132
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: Nrt1; IGSF9A; FP18798
Summary: Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to act upstream of or within dendrite development and regulation of synapse organization. Predicted to be located in dendrite and inhibitory synapse. Predicted to be active in axon; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in skin (RPKM 12.2), stomach (RPKM 7.5) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (159927041..159945613, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159064110..159082679, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (159896831..159915403, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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 ALDH2, IGSF9, and PRDM16 Proteins as Predictive Biomarkers for Prognosis in Breast Cancer.
Title: The ALDH2, IGSF9, and PRDM16 Proteins as Predictive Biomarkers for Prognosis in Breast Cancer.
Immunoglobulin superfamily 9 (IGSF9) is trans-activated by p53, inhibits breast cancer metastasis via FAK.
Title: Immunoglobulin superfamily 9 (IGSF9) is trans-activated by p53, inhibits breast cancer metastasis via FAK.
Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.
Title: Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.
In the group that combined individuals affected by isolated cleft lip and palate, tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries, we found an association with rs622260 but not with the rs10798049 marker. We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of
Title: Rethinking isolated cleft lip and palate as a syndrome.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in dendrite self-avoidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synapse maturation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in inhibitory synapse	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein turtle homolog A

Names: immunoglobulin superfamily member 9A; turtle homolog A

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_001135050.2 → NP_001128522.1 protein turtle homolog A isoform a precursor

See identical proteins and their annotated locations for NP_001128522.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AB037776, AI758999, AL513485, CK299326

Consensus CDS

CCDS44254.1

UniProtKB/Swiss-Prot

Q9P2J2

Related

ENSP00000357073.1, ENST00000368094.6

Conserved Domains (7) summary

cd00096
Location:154 → 220

Ig; Immunoglobulin domain

smart00410
Location:233 → 319

IG_like; Immunoglobulin like

cd00063
Location:625 → 715

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:136 → 223

I-set; Immunoglobulin I-set domain

pfam00041
Location:511 → 596

fn3; Fibronectin type III domain

pfam13927
Location:226 → 305

Ig_3; Immunoglobulin domain

cl11960
Location:341 → 404

Ig; Immunoglobulin domain
NM_020789.4 → NP_065840.2 protein turtle homolog A isoform b precursor

See identical proteins and their annotated locations for NP_065840.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AB037776, AI758999, AL513485, BC030141, CK299326

Consensus CDS

CCDS1190.1

UniProtKB/Swiss-Prot

Q9P2J2

Related

ENSP00000355049.3, ENST00000361509.7

Conserved Domains (7) summary

cd00096
Location:154 → 220

Ig; Immunoglobulin domain

smart00410
Location:233 → 319

IG_like; Immunoglobulin like

cd00063
Location:609 → 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:136 → 223

I-set; Immunoglobulin I-set domain

pfam00041
Location:495 → 580

fn3; Fibronectin type III domain

pfam13927
Location:226 → 305

Ig_3; Immunoglobulin domain

cl11960
Location:325 → 388

Ig; Immunoglobulin domain