AHNAK2 AHNAK nucleoprotein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AHNAK2provided by HGNC
Official Full Name: AHNAK nucleoprotein 2provided by HGNC
Primary source: HGNC:HGNC:20125
See related: Ensembl:ENSG00000185567 MIM:608570; AllianceGenome:HGNC:20125
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C14orf78
Summary: This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Expression: Biased expression in skin (RPKM 54.4), esophagus (RPKM 13.7) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (104937253..104978374, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99183727..99222852, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (105403590..105444711, complement)

Chromosome 14 - NC_000014.9 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?

AHNAK2 Promotes the Progression of Differentiated Thyroid Cancer through PI3K/AKT Signaling Pathway.
Title: AHNAK2 Promotes the Progression of Differentiated Thyroid Cancer through PI3K/AKT Signaling Pathway.
Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1.
Title: Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1.
AHNAK2 promotes thyroid carcinoma progression by activating the NF-kappaB pathway.
Title: AHNAK2 promotes thyroid carcinoma progression by activating the NF-κB pathway.
Down-Regulation of AHNAK2 Inhibits Cell Proliferation, Migration and Invasion Through Inactivating the MAPK Pathway in Lung Adenocarcinoma.
Title: Down-Regulation of AHNAK2 Inhibits Cell Proliferation, Migration and Invasion Through Inactivating the MAPK Pathway in Lung Adenocarcinoma.
Silencing of AHNAK2 restricts thyroid carcinoma progression by inhibiting the Wnt/beta-catenin pathway.
Title: Silencing of AHNAK2 restricts thyroid carcinoma progression by inhibiting the Wnt/β-catenin pathway.
AHNAK2 is a novel prognostic marker and correlates with immune infiltration in papillary thyroid cancer: Evidence from integrated analysis.
Title: AHNAK2 is a novel prognostic marker and correlates with immune infiltration in papillary thyroid cancer: Evidence from integrated analysis.
Correlation between prognostic indicator AHNAK2 and immune infiltrates in lung adenocarcinoma.
Title: Correlation between prognostic indicator AHNAK2 and immune infiltrates in lung adenocarcinoma.
AHNAK2 Is Associated with Poor Prognosis and Cell Migration in Lung Adenocarcinoma.
Title: AHNAK2 Is Associated with Poor Prognosis and Cell Migration in Lung Adenocarcinoma.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Title: Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Results illustrated that AHNAK2 was upregulated in UM and plays a promoting role in the proliferation and migration of UM cells possibly via regulating PI3K signaling pathway.
Title: AHNAK Nucleoprotein 2 Performs a Promoting Role in the Proliferation and Migration of Uveal Melanoma Cells.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Genetics of rheumatoid arthritis contributes to biology and drug discovery. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC34658 (e-PCR)
- UniSTS:13844

NIB978 (e-PCR)
- UniSTS:18478

WI-3672 (e-PCR)
- UniSTS:40066

RH75636 (e-PCR)
- UniSTS:92144

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in T-tubule	NAS Non-traceable Author Statement more info	PubMed
is_active_in costamere	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in sarcolemma	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protein AHNAK2

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.

Genomic

NG_054630.1 RefSeqGene

Range

4984..46105

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350929.2 → NP_001337858.1 protein AHNAK2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK094143, AL512802

Related

ENST00000555122.1

Conserved Domains (3) summary

PTZ00121
Location:327 → 577

PTZ00121; MAEBL; Provisional

COG2911
Location:2823 → 3612

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

cd00992
Location:12 → 91

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_138420.4 → NP_612429.2 protein AHNAK2 isoform 1

See identical proteins and their annotated locations for NP_612429.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL512802

Consensus CDS

CCDS45177.1

UniProtKB/Swiss-Prot

Q5BKX7, Q7Z343, Q7Z358, Q7Z394, Q7Z3G0, Q86WQ6, Q8IVF2, Q8IYY1, Q8N3G4, Q96EX9

Related

ENSP00000353114.4, ENST00000333244.6

Conserved Domains (3) summary

COG2911
Location:2923 → 3712

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

cd00992
Location:112 → 191

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

TIGR02099
Location:1521 → 2153

TIGR02099; TIGR02099 family 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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

104937253..104978374 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430904.1 → XP_047286860.1 protein AHNAK2 isoform X1
XM_024449463.2 → XP_024305231.1 protein AHNAK2 isoform X1

Conserved Domains (3) summary

PTZ00121
Location:327 → 577

PTZ00121; MAEBL; Provisional

COG2911
Location:2823 → 3612

TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]

cd00992
Location:12 → 91

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...