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    ANKRD29 ankyrin repeat domain 29 [ Homo sapiens (human) ]

    Gene ID: 147463, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD29provided by HGNC
    Official Full Name
    ankyrin repeat domain 29provided by HGNC
    Primary source
    HGNC:HGNC:27110
    See related
    Ensembl:ENSG00000154065 AllianceGenome:HGNC:27110
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 9.3), lymph node (RPKM 4.6) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD29 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23598926..23662911, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (23793195..23857170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21178890..21242875, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21033050-21033550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13161 Neighboring gene RIO kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13162 Neighboring gene NANOG hESC enhancer GRCh37_chr18:21085432-21085935 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:21098843-21100042 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:21109032-21110231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13163 Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1 Neighboring gene Sharpr-MPRA regulatory region 2631 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:21156116-21157315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21164994-21165541 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21165542-21166088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9360 Neighboring gene Sharpr-MPRA regulatory region 8852 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:21268776-21269325 Neighboring gene ribosomal protein S10 pseudogene 27 Neighboring gene ribosomal protein L23a pseudogene 77 Neighboring gene laminin subunit alpha 3

    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. ANKRD29, as a new prognostic and immunological biomarker of non-small cell lung cancer, inhibits cell growth and migration by regulating MAPK signaling pathway. Zhao H, et al. Biol Direct, 2023 Jun 6. PMID 37277814, Free PMC Article
    2. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Fogh I, et al. Hum Mol Genet, 2014 Apr 15. PMID 24256812, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ANKRD29, as a new prognostic and immunological biomarker of non-small cell lung cancer, inhibits cell growth and migration by regulating MAPK signaling pathway.
      Title: ANKRD29, as a new prognostic and immunological biomarker of non-small cell lung cancer, inhibits cell growth and migration by regulating MAPK signaling pathway.
    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
    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25053

    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
    ankyrin repeat domain-containing protein 29

    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_001308238.2 → NP_001295167.1  ankyrin repeat domain-containing protein 29 isoform 2

      See identical proteins and their annotated locations for NP_001295167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010853, AI073766, AK057782, BC030622
      Consensus CDS
      CCDS77164.1
      UniProtKB/Swiss-Prot
      Q8N6D5
      Related
      ENSP00000323387.9, ENST00000322980.13
      Conserved Domains (4) summary
      cd00204
      Location:40 → 165
      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 ...
      pfam12796
      Location:50 → 141
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:14 → 66
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:45 → 76
      ANK; ANK repeat [structural motif]

    2. NM_173505.4 → NP_775776.2  ankyrin repeat domain-containing protein 29 isoform 1

      See identical proteins and their annotated locations for NP_775776.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010853, AI073766, AK057782, BC030622, BM680506
      Consensus CDS
      CCDS11879.1
      UniProtKB/Swiss-Prot
      B2R972, Q6ZWE8, Q8N6D5, Q96LU9
      Related
      ENSP00000468354.1, ENST00000592179.6
      Conserved Domains (4) summary
      cd00204
      Location:40 → 165
      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 ...
      pfam12796
      Location:50 → 141
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:147 → 198
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:45 → 76
      ANK; ANK repeat [structural motif]

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      23598926..23662911 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025561.2 → XP_016881050.1  ankyrin repeat domain-containing protein 29 isoform X4

    2. XM_011525830.3 → XP_011524132.1  ankyrin repeat domain-containing protein 29 isoform X1

      See identical proteins and their annotated locations for XP_011524132.1

      Conserved Domains (4) summary
      cd00204
      Location:40 → 165
      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 ...
      pfam12796
      Location:50 → 140
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:14 → 66
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:45 → 76
      ANK; ANK repeat [structural motif]

    3. XM_047437305.1 → XP_047293261.1  ankyrin repeat domain-containing protein 29 isoform X6

    4. XM_011525831.4 → XP_011524133.1  ankyrin repeat domain-containing protein 29 isoform X2

      Conserved Domains (4) summary
      cd00204
      Location:2 → 123
      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 ...
      pfam12796
      Location:8 → 99
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:105 → 156
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:3 → 34
      ANK; ANK repeat [structural motif]

    5. XM_011525832.4 → XP_011524134.1  ankyrin repeat domain-containing protein 29 isoform X3

      Conserved Domains (4) summary
      cd00204
      Location:58 → 181
      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 ...
      pfam12796
      Location:1 → 91
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:97 → 148
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:28 → 59
      ANK; ANK repeat [structural motif]

    6. XM_047437304.1 → XP_047293260.1  ankyrin repeat domain-containing protein 29 isoform X5

    7. XM_047437307.1 → XP_047293263.1  ankyrin repeat domain-containing protein 29 isoform X7

    8. XM_047437308.1 → XP_047293264.1  ankyrin repeat domain-containing protein 29 isoform X8

      Related
      ENSP00000465936.1, ENST00000586087.1

    9. XM_047437306.1 → XP_047293262.1  ankyrin repeat domain-containing protein 29 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      23793195..23857170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318217.1 → XP_054174192.1  ankyrin repeat domain-containing protein 29 isoform X4

    2. XM_054318214.1 → XP_054174189.1  ankyrin repeat domain-containing protein 29 isoform X1

    3. XM_054318219.1 → XP_054174194.1  ankyrin repeat domain-containing protein 29 isoform X6

    4. XM_054318215.1 → XP_054174190.1  ankyrin repeat domain-containing protein 29 isoform X2

    5. XM_054318216.1 → XP_054174191.1  ankyrin repeat domain-containing protein 29 isoform X3

    6. XM_054318218.1 → XP_054174193.1  ankyrin repeat domain-containing protein 29 isoform X5

    7. XM_054318221.1 → XP_054174196.1  ankyrin repeat domain-containing protein 29 isoform X7

    8. XM_054318222.1 → XP_054174197.1  ankyrin repeat domain-containing protein 29 isoform X8

    9. XM_054318220.1 → XP_054174195.1  ankyrin repeat domain-containing protein 29 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6D5.2 GenPept UniProtKB/Swiss-Prot:Q8N6D5

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