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NWD2 NACHT and WD repeat domain containing 2 [ Homo sapiens (human) ]

Gene ID: 57495, updated on 10-Dec-2024

Summary

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Official Symbol
NWD2provided by HGNC
Official Full Name
NACHT and WD repeat domain containing 2provided by HGNC
Primary source
HGNC:HGNC:29229
See related
Ensembl:ENSG00000174145 MIM:620172; AllianceGenome:HGNC:29229
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
KIAA1239
Summary
Predicted to be active in synapse. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Biased expression in brain (RPKM 3.2), thyroid (RPKM 0.7) and 2 other tissues See more
Orthologs
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Genomic context

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See NWD2 in Genome Data Viewer
Location:
4p14
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37244743..37449463)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37213081..37418202)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37246365..37451085)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928721 Neighboring gene uncharacterized LOC105374402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37147574-37148074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37148075-37148575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78906 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78938 Neighboring gene microRNA 4801 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_78969 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15347 Neighboring gene Sharpr-MPRA regulatory region 2247 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:37442795-37443994 Neighboring gene uncharacterized LOC124900691 Neighboring gene PDCD10 and GCKIII kinases associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37541047-37541547 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37562271-37562772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591458-37591958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37591959-37592459 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37608503-37609142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37636677-37637177 Neighboring gene RELT like 1 Neighboring gene HNF4 motif-containing MPRA enhancer 255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37655185-37655838 Neighboring gene Sharpr-MPRA regulatory region 2227 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:37667691-37668890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15348

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. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
  2. SOCS2 Binds to and Regulates EphA2 through Multiple Mechanisms. Pilling C, et al. Sci Rep, 2017 Sep 7. PMID 28883622, Free PMC Article
  3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  4. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  5. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Liu Y, et al. Neuron, 2024 Jun 19. PMID 38697112

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1239

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
NACHT and WD repeat domain-containing protein 2

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_001144990.2 → NP_001138462.1  NACHT and WD repeat domain-containing protein 2

    See identical proteins and their annotated locations for NP_001138462.1

    Status: VALIDATED

    Source sequence(s)
    AC022463, AC104690, AC107400
    Consensus CDS
    CCDS47040.1
    UniProtKB/Swiss-Prot
    A8MRU1, Q9ULI1
    Related
    ENSP00000309501.5, ENST00000309447.6
    Conserved Domains (4) summary
    COG2319
    Location:1100 → 1435
    WD40; WD40 repeat [General function prediction only]
    pfam13191
    Location:394 → 539
    AAA_16; AAA ATPase domain
    sd00039
    Location:1013 → 1051
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:978 → 1302
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    37244743..37449463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    37213081..37418202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULI1.3 GenPept UniProtKB/Swiss-Prot:Q9ULI1

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