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

Gene ID: 729262, updated on 7-Jan-2024

Summary

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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

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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_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2679 Neighboring gene uncharacterized LOC124900288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81443548-81444475 Neighboring gene NUTM2B antisense RNA 1 Neighboring gene BEN domain containing 3 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81471387-81471887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:81585381-81585979 Neighboring gene uncharacterized LOC642361 Neighboring gene NUT family member 2E Neighboring gene putative UPF0607 protein FLJ37424 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. 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. Kao YC, et al. Am J Surg Pathol, 2016 Aug. PMID 26945340, Free PMC Article
  2. The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney. Gooskens SL, et al. Genes Chromosomes Cancer, 2016 Feb. PMID 26542179
  3. The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor. Lee CH, et al. Am J Surg Pathol, 2012 May. PMID 22456610
  4. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Lim J, et al. Cell, 2006 May 19. PMID 16713569

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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)

  1. 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    79692115..79712758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A6NM73, A6NNL0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    80572529..80582060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NNL0.2 GenPept UniProtKB/Swiss-Prot:A6NNL0

Gene LinkOut

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