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    AHNAK2 AHNAK nucleoprotein 2 [ Homo sapiens (human) ]

    Gene ID: 113146, updated on 8-Jul-2021

    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
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    Genomic context

    See AHNAK2 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (104937253..104978374, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105403590..105444711, 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    GeneReviews: Not available

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Related
      ENST00000555122.1
      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 Updated Annotation Release 109.20210514

    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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