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

Gene ID: 25959, updated on 3-May-2020

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

Genomic context

See KANK2 in Genome Data Viewer
Location:
19p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11164267..11197545, 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 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
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

NHGRI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog

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

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, ENST00000586659.5
    Conserved Domains (6) 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:671769
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:642687
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:758813
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:739769
    ANK; ANK repeat [structural motif]
  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
    Related
    ENSP00000467029.1, ENST00000589894.1
    Conserved Domains (6) 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:671769
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:642687
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:758813
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:739769
    ANK; ANK repeat [structural motif]
  3. NM_001379548.1NP_001366477.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  4. NM_001379549.1NP_001366478.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  5. NM_001379550.1NP_001366479.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  6. NM_001379551.1NP_001366480.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  7. NM_001379552.1NP_001366481.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  8. NM_001379553.1NP_001366482.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  9. NM_001379554.1NP_001366483.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  10. NM_001379555.1NP_001366484.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  11. NM_001379556.1NP_001366485.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  12. NM_001379557.1NP_001366486.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  13. NM_001379558.1NP_001366487.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  14. NM_001379559.1NP_001366488.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  15. NM_001379560.1NP_001366489.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  16. NM_001379561.1NP_001366490.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  17. NM_001379562.1NP_001366491.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  18. NM_001379563.1NP_001366492.1  KN motif and ankyrin repeat domain-containing protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009000, AC011485
  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
    Related
    ENSP00000468002.1, ENST00000589359.5
    Conserved Domains (6) 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:679777
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:650695
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:766821
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:747777
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    11164267..11197545 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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