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AHNAK2 AHNAK nucleoprotein 2 [ Homo sapiens (human) ]

Gene ID: 113146, updated on 26-May-2016
Official Symbol
AHNAK2provided by HGNC
Official Full Name
AHNAK nucleoprotein 2provided by HGNC
Primary source
HGNC:HGNC:20125
See related
Ensembl:ENSG00000185567 MIM:608570; Vega:OTTHUMG00000170765
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
C14orf78
Orthologs
Location:
14q32.33
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (104937253..104978357, 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 centrosomal protein 170B Neighboring gene phospholipase D family member 4 Neighboring gene chromosome 14 open reading frame 79 Neighboring gene cell division cycle associated 4

NHGRI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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 
Component Evidence Code Pubs
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 IDA
Inferred from Direct Assay
more info
 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
sarcolemma NAS
Non-traceable Author Statement
more info
PubMed 

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_138420.2NP_612429.2  protein AHNAK2

    See identical proteins and their annotated locations for NP_612429.2

    Status: VALIDATED

    Source sequence(s)
    AL512802
    Consensus CDS
    CCDS45177.1
    UniProtKB/Swiss-Prot
    Q8IVF2
    Related
    ENSP00000353114, OTTHUMP00000244370, ENST00000333244, OTTHUMT00000410300
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    104937253..104978357 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267299.1XP_005267356.1  

    UniProtKB/Swiss-Prot
    Q8IVF2
    Conserved Domains (3) summary
    COG2911
    Location:28233612
    TamB; Autotransporter translocation and assembly factor TamB [Intracellular trafficking, secretion, and vesicular transport]
    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) ...
    TIGR02099
    Location:14212053
    TIGR02099; TIGR02099 family protein

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    105341352..105382455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)