NUTM2E NUT family member 2E [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUTM2Eprovided by HGNC
Official Full Name: NUT family member 2Eprovided by HGNC
Primary source: HGNC:HGNC:23448
See related: Ensembl:ENSG00000228570 AllianceGenome:HGNC:23448
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: FAM22E
Annotation information: Note: This gene contains an intact open reading frame; however, it is classified as a pseudogene because no transcripts available as of August 2009 are thought to originate from this location, suggesting that this gene does not have a functional promoter. [26 Aug 2009]
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Genomic context

Location:: 10q22.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79826739..79850878)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80696083..80720226)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81586495..81610634)

Chromosome 10 - NC_000010.11 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?

Studies show that patients with clear cell sarcoma of the kidney (CCSK) and the fusion YWHAE-NUTM2B/E were relatively young, had low tumor volumes, and did not present with stage I disease which fail to identify an explicit clinical phenotype.
Title: The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.

Submit: New GeneRIF Correction

Phenotypes

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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)

General gene information

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General protein information

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Preferred Names: nUT family member 2E

Names: family with sequence similarity 22, member E

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_001355263.2 → NP_001342192.1 nUT family member 2E

Status: VALIDATED

Source sequence(s)

AL135925

Consensus CDS

CCDS91285.1

UniProtKB/Swiss-Prot

A6NHL0, B1AL46

Related

ENSP00000407521.2, ENST00000429984.5

Conserved Domains (1) summary

pfam12881
Location:136 → 875

NUT; NUT protein