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

Gene ID: 25959, updated on 4-Jan-2025

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; AllianceGenome:HGNC:29300
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
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Genomic context

See KANK2 in Genome Data Viewer
Location:
19p13.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11164270..11197865, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11291296..11324866, complement)
RS_2024_09 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 low density lipoprotein receptor Neighboring gene microRNA 6886 Neighboring gene VISTA enhancer hs1754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10101 Neighboring gene SPC24 component of NDC80 kinetochore complex Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11276922-11277422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11300095-11300596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11300597-11301096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10103 Neighboring gene DOCK6 antisense RNA 1 Neighboring gene dedicator of cytokinesis 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11347000-11347810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11347811-11348621 Neighboring gene angiopoietin like 8

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Nephrotic syndrome 16
MedGen: C4540453 OMIM: 617783 GeneReviews: Not available
Compare labs
Wooly hair-palmoplantar keratoderma syndrome
MedGen: C4015202 OMIM: 616099 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Interactions

General gene information

Clone Names

  • FLJ20004, KIAA1518, MGC119707, DKFZp434N161

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in apoptotic process  
involved_in kidney epithelium development PubMed 
involved_in negative regulation of G1/S transition of mitotic cell cycle  
involved_in negative regulation of G1/S transition of mitotic cell cycle PubMed 
involved_in negative regulation of actin filament polymerization  
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of cell population proliferation PubMed 
involved_in negative regulation of intracellular estrogen receptor signaling pathway  
involved_in negative regulation of intracellular estrogen receptor signaling pathway PubMed 
involved_in negative regulation of programmed cell death PubMed 
involved_in negative regulation of transcription by RNA polymerase II  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of vitamin D receptor signaling pathway  
involved_in negative regulation of vitamin D receptor signaling pathway PubMed 
involved_in podocyte cell migration PubMed 
involved_in regulation of Rho protein signal transduction PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in mitochondrion 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
steroid receptor coactivator interacting protein

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_051186.2 RefSeqGene

    Range
    5320..38595
    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
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS54219.1
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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
    Consensus CDS
    CCDS12255.1
    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047438576.1XP_047294532.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
  2. XM_047438575.1XP_047294531.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
  3. XM_047438572.1XP_047294528.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
  4. XM_047438569.1XP_047294525.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X1

  5. XM_047438573.1XP_047294529.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
    Related
    ENSP00000467029.1, ENST00000589894.1
  6. XM_047438574.1XP_047294530.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
  7. XM_047438571.1XP_047294527.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X1

  8. XM_047438577.1XP_047294533.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B0I1P4, Q3KQZ3, Q63ZY3, Q6GUF5, Q9H8S4, Q9NUP0, Q9P210
  9. XM_047438570.1XP_047294526.1  KN motif and ankyrin repeat domain-containing protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    11291296..11324866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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