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    ANKRD44 ankyrin repeat domain 44 [ Homo sapiens (human) ]

    Gene ID: 91526, updated on 19-Sep-2024

    Summary

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    Official Symbol
    ANKRD44provided by HGNC
    Official Full Name
    ankyrin repeat domain 44provided by HGNC
    Primary source
    HGNC:HGNC:25259
    See related
    Ensembl:ENSG00000065413 MIM:620861; AllianceGenome:HGNC:25259
    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
    ARSB; PP6-ARS-B
    Expression
    Broad expression in lymph node (RPKM 12.0), appendix (RPKM 9.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD44 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (196967014..197310780, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197446277..197794518, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (197851386..198175504, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 66 Neighboring gene post-GPI attachment to proteins inositol deacylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12207 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 15 Neighboring gene ribosomal protein L4 pseudogene 7 Neighboring gene NANOG hESC enhancer GRCh37_chr2:198002142-198002725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16917 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198051264-198052463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16918 Neighboring gene ANKRD44 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16921 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:198120663-198121319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16922 Neighboring gene ANKRD44 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16923 Neighboring gene ATP5MC2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:198174355-198174856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12212 Neighboring gene ANKRD44 divergent transcript Neighboring gene nucleophosmin 1 pseudogene 46

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The Tre2 oncoprotein, implicated in Ewing's sarcoma, interacts with two components of the cytoskeleton. Dechamps C, et al. Biotechnol Lett, 2006 Feb. PMID 16555005
    2. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. Stefansson B, et al. Biochemistry, 2008 Feb 5. PMID 18186651
    3. Protein phosphatase 6 regulates mitotic spindle formation by controlling the T-loop phosphorylation state of Aurora A bound to its activator TPX2. Zeng K, et al. J Cell Biol, 2010 Dec 27. PMID 21187329, Free PMC Article
    4. Rab40c regulates focal adhesions and PP6 activity by controlling ANKRD28 ubiquitylation. Han KJ, et al. Life Sci Alliance, 2022 Sep. PMID 35512830, Free PMC Article
    5. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Kapoor M, et al. Drug Alcohol Depend, 2014 Sep 1. PMID 24962325, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11570, MGC21968, MGC70444

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B
    Names
    ankyrin repeat domain-containing protein 44
    serine/threonine-protein phosphatase 6 regulatory subunit ARS-B

    NCBI Reference Sequences (RefSeq)

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    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_001195144.2 → NP_001182073.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform A

      See identical proteins and their annotated locations for NP_001182073.1

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035
      Consensus CDS
      CCDS74619.1
      UniProtKB/Swiss-Prot
      Q53SL9, Q6P480, Q86VL5, Q8IZ72, Q8N8A2, Q9UFA4
      Related
      ENSP00000282272.9, ENST00000282272.15
      Conserved Domains (5) summary
      cd00204
      Location:134 → 259
      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 ...
      pfam00023
      Location:271 → 304
      Ank; Ankyrin repeat
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:532 → 587
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76 → 104
      ANK; ANK repeat [structural motif]

    2. NM_001367495.1 → NP_001354424.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform C

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035

    3. NM_001367496.1 → NP_001354425.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform D

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035

    4. NM_001367497.1 → NP_001354426.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform E

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035
      Consensus CDS
      CCDS92920.1
      UniProtKB/TrEMBL
      A0A2R8Y7Y4
      Related
      ENSP00000496628.1, ENST00000647377.1

    5. NM_153697.3 → NP_710181.2  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform B

      See identical proteins and their annotated locations for NP_710181.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (B) contains an alternate segment in the 3' UTR and lacks the last 18 exons, compared to variant A. The resulting protein (isoform B) is shorter than isoform A.
      Source sequence(s)
      AI439698, AK301209, BC063622
      Consensus CDS
      CCDS33355.2
      UniProtKB/Swiss-Prot
      Q8N8A2
      UniProtKB/TrEMBL
      B7Z6Z7
      Related
      ENSP00000387233.1, ENST00000409919.5
      Conserved Domains (3) summary
      sd00045
      Location:76 → 104
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:276 → 364
      Ank_2; Ankyrin repeats (3 copies)
      cl26073
      Location:22 → 310
      Ank_2; Ankyrin repeats (3 copies)

    RNA

    1. NR_160034.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      196967014..197310780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446287.1 → XP_047302243.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X9

    2. XM_005246948.3 → XP_005247005.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X7

      UniProtKB/Swiss-Prot
      Q8N8A2
      Conserved Domains (5) summary
      cd00204
      Location:134 → 259
      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 ...
      pfam00023
      Location:271 → 304
      Ank; Ankyrin repeat
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:550 → 605
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76 → 104
      ANK; ANK repeat [structural motif]

    3. XM_047446286.1 → XP_047302242.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X8

    4. XM_047446285.1 → XP_047302241.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X5

    5. XM_005246947.3 → XP_005247004.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X4

      Conserved Domains (5) summary
      cd00204
      Location:134 → 259
      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 ...
      pfam00023
      Location:271 → 304
      Ank; Ankyrin repeat
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:550 → 605
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76 → 104
      ANK; ANK repeat [structural motif]

    6. XM_006712838.4 → XP_006712901.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X6

      Conserved Domains (5) summary
      cd00204
      Location:134 → 259
      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 ...
      pfam00023
      Location:271 → 304
      Ank; Ankyrin repeat
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:550 → 605
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76 → 104
      ANK; ANK repeat [structural motif]

    7. XM_047446284.1 → XP_047302240.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X3

    8. XM_047446282.1 → XP_047302238.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X1

    9. XM_047446283.1 → XP_047302239.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X2

    10. XM_024453216.2 → XP_024308984.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X1

      Conserved Domains (5) summary
      cd00204
      Location:587 → 716
      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 ...
      sd00045
      Location:51 → 79
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:318 → 428
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:525 → 580
      Ank_4; Ankyrin repeats (many copies)
      cl26073
      Location:61 → 334
      Ank_2; Ankyrin repeats (3 copies)

    11. XM_047446288.1 → XP_047302244.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X10

      Related
      ENSP00000331516.2, ENST00000328737.6

    12. XM_047446290.1 → XP_047302246.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X12

      Related
      ENSP00000387141.1, ENST00000409153.5

    13. XM_047446289.1 → XP_047302245.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X11

    RNA

    1. XR_923062.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      197446277..197794518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344499.1 → XP_054200474.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X9

    2. XM_054344497.1 → XP_054200472.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X7

    3. XM_054344498.1 → XP_054200473.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X8

    4. XM_054344495.1 → XP_054200470.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X5

    5. XM_054344494.1 → XP_054200469.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X4

    6. XM_054344496.1 → XP_054200471.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X6

    7. XM_054344493.1 → XP_054200468.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X3

    8. XM_054344491.1 → XP_054200466.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X1

    9. XM_054344492.1 → XP_054200467.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X2

    10. XM_054344500.1 → XP_054200475.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X10

    11. XM_054344502.1 → XP_054200477.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X12

    12. XM_054344501.1 → XP_054200476.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X11

    RNA

    1. XR_008486601.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8A2.3 GenPept UniProtKB/Swiss-Prot:Q8N8A2

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