NACA2 nascent polypeptide associated complex subunit alpha 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NACA2provided by HGNC
Official Full Name: nascent polypeptide associated complex subunit alpha 2provided by HGNC
Primary source: HGNC:HGNC:23290
See related: Ensembl:ENSG00000253506 MIM:609274; AllianceGenome:HGNC:23290
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: ANAC; NACAL
Summary: Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 17q23.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (61590421..61591219, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (62459278..62460076, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (59667782..59668580, complement)

Chromosome 17 - NC_000017.11 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?

Alpha-nac is a potent inducer of a Th1 response via IL12 and TLR2.
Title: The human skin-associated autoantigen α-NAC activates monocytes and dendritic cells via TLR-2 and primes an IL-12-dependent Th1 response.
Observational study of gene-disease association. (HuGE Navigator)
Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

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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

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nascent polypeptide-associated complex alpha subunit 2 (NACA2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47186 (e-PCR)
- UniSTS:23079

D11S4466 (e-PCR)
- UniSTS:473424

D12S1140E (e-PCR)
- UniSTS:151425

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein targeting to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of nascent polypeptide-associated complex	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nascent polypeptide-associated complex subunit alpha-2

Names: IgE autoantigen alpha-nascent polypeptide-associated complex; alpha-NAC protein; hom s 2.01 protein; nascent polypeptide associated complex alpha subunit 2; nascent polypeptide-associated complex, alpha polypeptide, 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)

NM_001426702.1 → NP_001413631.1 nascent polypeptide-associated complex subunit alpha-2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents an alternate allele of the gene on T2T-CHM13 assembly, which has a SNP (rs17610181) at NC_060941.1:62459449 that introduces a premature stop codon. The encoded 196aa protein (isoform 2) is truncated at the C-terminus and is shorter compared to isoform 1.

Source sequence(s)

CP068261
NM_199290.4 → NP_954984.1 nascent polypeptide-associated complex subunit alpha-2 isoform 1

See identical proteins and their annotated locations for NP_954984.1

Status: VALIDATED

Source sequence(s)

AC002994, BC062710

Consensus CDS

CCDS11630.1

UniProtKB/Swiss-Prot

Q2VIR9, Q9H009

Related

ENSP00000427802.1, ENST00000521764.3

Conserved Domains (2) summary

cd14415
Location:174 → 214

UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)

pfam01849
Location:82 → 128

NAC; NAC domain