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    KANK2 KN motif and ankyrin repeat domains 2 [ Homo sapiens (human) ]

    Gene ID: 25959, updated on 30-Jun-2015
    Official Symbol
    KANK2provided by HGNC
    Official Full Name
    KN motif and ankyrin repeat domains 2provided by HGNC
    Primary source
    HGNC:HGNC:29300
    See related
    Ensembl:ENSG00000197256; HPRD:12463; MIM:614610; Vega:OTTHUMG00000180799
    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
    SIP; MXRA3; PPKWH; ANKRD25
    Orthologs
    See KANK2 in Epigenomics, MapViewer
    Location:
    19p13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (11164267..11197567, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11274943..11308243, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor Neighboring gene microRNA 6886 Neighboring gene SPC24, NDC80 kinetochore complex component Neighboring gene uncharacterized LOC105372273 Neighboring gene dedicator of cytokinesis 6 Neighboring gene chromosome 19 open reading frame 80

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Palmoplantar keratoderma and woolly hair
    MedGen: CN221807 OMIM: 616099 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20004, KIAA1518, MGC119707, DKFZp434N161

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    KN motif and ankyrin repeat domain-containing protein 2
    Names
    SRC-1 interacting protein
    SRC-1-interacting protein
    SRC-interacting protein
    SRC1-interacting protein
    ankyrin repeat domain 25
    ankyrin repeat domain-containing protein 25
    kidney ankyrin repeat-containing protein 2
    matrix-remodeling-associated protein 3
    matrix-remodelling associated 3

    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_001136191.2NP_001129663.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001129663.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB040951, AC009000, BC082762, BQ007409
      Consensus CDS
      CCDS12255.1
      UniProtKB/Swiss-Prot
      Q63ZY3
      Related
      ENSP00000465650, OTTHUMP00000265337, ENST00000586659, OTTHUMT00000453066
      Conserved Domains (3) summary
      cd00204
      Location:661792
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_015493.6NP_056308.3  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_056308.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). This variant may include additional exon structure in the 5' UTR, but the nature of any additional structure is unclear due to the lack of 5'-complete transcript data for this variant and the presence of alternative splicing choices further upstream.
      Source sequence(s)
      AB040951, AY639929, BQ007409, DA889034, DB282630
      Consensus CDS
      CCDS54219.1
      UniProtKB/Swiss-Prot
      Q63ZY3
      Conserved Domains (3) summary
      cd00204
      Location:669800
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

      Range
      11164267..11197567
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      11276193..11309454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)