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

    Gene ID: 91526, updated on 17-Jun-2024

    Summary

    Official Symbol
    ANKRD44provided by HGNC
    Official Full Name
    ankyrin repeat domain 44provided by HGNC
    Primary source
    HGNC:HGNC:25259
    See related
    Ensembl:ENSG00000065413 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
    PP6-ARS-B
    Expression
    Broad expression in lymph node (RPKM 12.0), appendix (RPKM 9.6) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKRD44 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (196967014..197310780, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197446277..197794518, complement)
    105.20220307 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

    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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001195144.2NP_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:134259
      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:271304
      Ank; Ankyrin repeat
      pfam12796
      Location:177269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:532587
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76104
      ANK; ANK repeat [structural motif]
    2. NM_001367495.1NP_001354424.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform C

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035
    3. NM_001367496.1NP_001354425.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform D

      Status: VALIDATED

      Source sequence(s)
      AC010746, AC013264, AC017035
    4. NM_001367497.1NP_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_153697.3NP_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:76104
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:276364
      Ank_2; Ankyrin repeats (3 copies)
      cl26073
      Location:22310
      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_2023_10

    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_047446287.1XP_047302243.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X9

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

      UniProtKB/Swiss-Prot
      Q8N8A2
      Conserved Domains (5) summary
      cd00204
      Location:134259
      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:271304
      Ank; Ankyrin repeat
      pfam12796
      Location:177269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:550605
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76104
      ANK; ANK repeat [structural motif]
    3. XM_047446286.1XP_047302242.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X8

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

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

      Conserved Domains (5) summary
      cd00204
      Location:134259
      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:271304
      Ank; Ankyrin repeat
      pfam12796
      Location:177269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:550605
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76104
      ANK; ANK repeat [structural motif]
    6. XM_006712838.4XP_006712901.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X6

      Conserved Domains (5) summary
      cd00204
      Location:134259
      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:271304
      Ank; Ankyrin repeat
      pfam12796
      Location:177269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:550605
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:76104
      ANK; ANK repeat [structural motif]
    7. XM_047446284.1XP_047302240.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X3

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

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

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

      Conserved Domains (5) summary
      cd00204
      Location:587716
      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:5179
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:318428
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:525580
      Ank_4; Ankyrin repeats (many copies)
      cl26073
      Location:61334
      Ank_2; Ankyrin repeats (3 copies)
    11. XM_047446288.1XP_047302244.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X10

      Related
      ENSP00000331516.2, ENST00000328737.6
    12. XM_047446290.1XP_047302246.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X12

      Related
      ENSP00000387141.1, ENST00000409153.5
    13. XM_047446289.1XP_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_054344499.1XP_054200474.1  serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform X9

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

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

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

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

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

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

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

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

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

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

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

    RNA

    1. XR_008486601.1 RNA Sequence