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AHNAK2 AHNAK nucleoprotein 2 [ Homo sapiens (human) ]

Gene ID: 113146, updated on 12-Oct-2019

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
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

Genomic context

See AHNAK2 in Genome Data Viewer
Location:
14q32.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (104937253..104978374, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105403590..105444694, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 4 Neighboring gene microRNA 12121 Neighboring gene centrosomal protein 170B Neighboring gene phospholipase D family member 4 Neighboring gene clathrin binding box of aftiphilin containing 1 Neighboring gene cell division cycle associated 4

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA2019

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT plasma membrane repair ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of RNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
T-tubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
T-tubule NAS
Non-traceable Author Statement
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
costamere ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
sarcolemma NAS
Non-traceable Author Statement
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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

  1. NG_054630.1 RefSeqGene

    Range
    4984..46105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350929.2NP_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
    Conserved Domains (4) summary
    cd00992
    Location:1291
    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) ...
    cl26255
    Location:14212053
    DUF3971; Protein of unknown function
    cl26511
    Location:327577
    Neuromodulin_N; Gap junction protein N-terminal region
    cl27168
    Location:28233612
    TamB; TamB, inner membrane protein subunit of TAM complex
  2. NM_138420.4NP_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
    Q8IVF2
    Related
    ENSP00000353114.4, ENST00000333244.6
    Conserved Domains (3) summary
    COG2911
    Location:29233712
    TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
    cd00992
    Location:112191
    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:15212153
    TIGR02099; TIGR02099 family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    104937253..104978374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449463.1XP_024305231.1  protein AHNAK2 isoform X1

    Conserved Domains (4) summary
    cd00992
    Location:1291
    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) ...
    cl26255
    Location:14212053
    DUF3971; Protein of unknown function
    cl26511
    Location:327577
    Neuromodulin_N; Gap junction protein N-terminal region
    cl27168
    Location:28233612
    TamB; TamB, inner membrane protein subunit of TAM complex
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