NUTM2B NUT family member 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUTM2Bprovided by HGNC
Official Full Name: NUT family member 2Bprovided by HGNC
Primary source: HGNC:HGNC:23445
See related: Ensembl:ENSG00000188199 AllianceGenome:HGNC:23445
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: FAM22B; bA119F19.1
Expression: Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.0) and 25 other tissues See more
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Genomic context

Location:: 10q22.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79692115..79712758)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80572529..80582060)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81462983..81472514)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Tumors with YWHAE-FAM22 rearrangements constitute a distinct group of endometrial stromal sarcoma (ESS), which is associated with high-grade morphology and aggressive clinical behavior compared to JAZF1 ESS.
Title: The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor.
we report recurrent BCOR exon 16 internal tandem duplications and YWHAE-NUTM2B fusions in half of infantile soft tissue undifferentiated round cell sarcoma and most primitive myxoid mesenchymal tumor of infancy cases, but not in other pediatric sarcomas.
Title: Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy: Overlapping Genetic Features With Clear Cell Sarcoma of Kidney.
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.

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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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General protein information

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Preferred Names: NUT family member 2B

Names: family with sequence similarity 22, member B; protein FAM22B

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_001278495.2 → NP_001265424.1 NUT family member 2B

See identical proteins and their annotated locations for NP_001265424.1

Status: VALIDATED

Source sequence(s)

AL132656, HY013942

Consensus CDS

CCDS60574.1

UniProtKB/Swiss-Prot

A6NM73, A6NNL0

Related

ENSP00000394623.1, ENST00000429828.7

Conserved Domains (1) summary

pfam12881
Location:136 → 865

NUT; NUT protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

79692115..79712758

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425707.1 → XP_047281663.1 NUT family member 2B isoform X1

UniProtKB/Swiss-Prot

A6NM73, A6NNL0

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

80572529..80582060

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_012780.1: Suppressed sequence

Description

NG_012780.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.