INSM2 INSM transcriptional repressor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: INSM2provided by HGNC
Official Full Name: INSM transcriptional repressor 2provided by HGNC
Primary source: HGNC:HGNC:17539
See related: Ensembl:ENSG00000168348 MIM:614027; AllianceGenome:HGNC:17539
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: IA6; IA-6; mlt1
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; neuron differentiation; and regulation of cell cycle process. Predicted to be located in cytoplasm. Predicted to be part of transcription repressor complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 14q13.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (35534164..35537054)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (29721890..29724780)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (36003370..36006260)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that INSM2 is the expressed n fetal pancreas.
Title: Expression of insulinoma-associated 2 (INSM2) in pancreatic islet cells is regulated by the transcription factors Ngn3 and NeuroD1.
insulinoma-associated protein 2 beta (IA-2beta) and zinc transporter-8 may have a role in rapid progression of type 1 diabetes
Title: Predictive power of screening for antibodies against insulinoma-associated protein 2 beta (IA-2beta) and zinc transporter-8 to select first-degree relatives of type 1 diabetic patients with risk of rapid progression to clinical onset of the disease: implications for prevention trials.

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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 DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell cycle process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription repressor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: insulinoma-associated protein 2

Names: insulinoma-associated 2; insulinoma-associated protein IA-6; zinc finger protein IA-6

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_032594.4 → NP_115983.3 insulinoma-associated protein 2

See identical proteins and their annotated locations for NP_115983.3

Status: VALIDATED

Source sequence(s)

AF260323, AL160231, BC130377

Consensus CDS

CCDS9657.1

UniProtKB/Swiss-Prot

A1L432, J9Y024, Q8N8K7, Q96Q84, Q96T92

Related

ENSP00000306523.3, ENST00000307169.4

Conserved Domains (3) summary

sd00017
Location:265 → 285

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:426 → 448

zf-C2H2; Zinc finger, C2H2 type

cl00873
Location:140 → 203

PdxA; Pyridoxal phosphate biosynthetic protein PdxA