Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 25959, updated on 4-Jul-2021

    Summary

    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 MIM:614610
    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
    SIP; MXRA3; PPKWH; NPHS16; ANKRD25
    Summary
    This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in endometrium (RPKM 77.8), ovary (RPKM 51.9) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KANK2 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11164270..11197865, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11274946..11308541, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1754 Neighboring gene SPC24 component of NDC80 kinetochore complex Neighboring gene uncharacterized LOC105372273 Neighboring gene dedicator of cytokinesis 6 Neighboring gene angiopoietin like 8

    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
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Nephrotic syndrome type 16
    MedGen: C4540453 OMIM: 617783 GeneReviews: Not available
    Compare labs
    Palmoplantar keratoderma and woolly hair
    MedGen: C4015202 OMIM: 616099 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20004, KIAA1518, MGC119707, DKFZp434N161

    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular visceral epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in kidney epithelium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of intracellular estrogen receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of intracellular estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of programmed cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vitamin D receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of vitamin D receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    KN motif and ankyrin repeat domain-containing protein 2
    Names
    SRC-interacting protein
    SRC1-interacting protein
    ankyrin repeat domain-containing protein 25
    kidney ankyrin repeat-containing protein 2
    matrix-remodeling-associated protein 3

    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_051186.1 RefSeqGene

      Range
      5001..38301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136191.3NP_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: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Consensus CDS
      CCDS12255.1
      UniProtKB/Swiss-Prot
      Q63ZY3
      Related
      ENSP00000465650.1, ENST00000586659.6
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_001329451.2NP_001316380.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Consensus CDS
      CCDS12255.1
      UniProtKB/Swiss-Prot
      Q63ZY3
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    3. NM_001379548.1NP_001366477.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    4. NM_001379549.1NP_001366478.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Related
      ENSP00000468002.1, ENST00000589359.5
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    5. NM_001379550.1NP_001366479.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    6. NM_001379551.1NP_001366480.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    7. NM_001379552.1NP_001366481.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    8. NM_001379553.1NP_001366482.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    9. NM_001379554.1NP_001366483.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)
    10. NM_001379555.1NP_001366484.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    11. NM_001379556.1NP_001366485.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    12. NM_001379557.1NP_001366486.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    13. NM_001379558.1NP_001366487.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    14. NM_001379559.1NP_001366488.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    15. NM_001379560.1NP_001366489.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    16. NM_001379561.1NP_001366490.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    17. NM_001379562.1NP_001366491.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    18. NM_001379563.1NP_001366492.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Conserved Domains (4) summary
      COG0666
      Location:651806
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:739769
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:743828
      Ank_2; Ankyrin repeats (3 copies)
    19. NM_015493.7NP_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: REVIEWED

      Source sequence(s)
      AC009000, AC011485
      Consensus CDS
      CCDS54219.1
      UniProtKB/Swiss-Prot
      Q63ZY3
      Conserved Domains (5) summary
      COG0666
      Location:659814
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      PRK13108
      Location:450593
      PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed
      sd00045
      Location:747777
      ANK; ANK repeat [structural motif]
      pfam12075
      Location:3169
      KN_motif; KN motif
      pfam12796
      Location:751836
      Ank_2; Ankyrin repeats (3 copies)

    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_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      11164270..11197865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center