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

Gene ID: 91526, updated on 5-Mar-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 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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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 (34) 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_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_047446287.1 → 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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