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

    Gene ID: 147463, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in lung (RPKM 9.3), lymph node (RPKM 4.6) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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
    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 29

    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_001308238.2NP_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:40165
      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:50141
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1466
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4576
      ANK; ANK repeat [structural motif]
    2. NM_173505.4NP_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:40165
      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:50141
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:147198
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4576
      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_017025561.2XP_016881050.1  ankyrin repeat domain-containing protein 29 isoform X4

    2. XM_011525830.3XP_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:40165
      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:50140
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1466
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:4576
      ANK; ANK repeat [structural motif]
    3. XM_047437305.1XP_047293261.1  ankyrin repeat domain-containing protein 29 isoform X6

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

      Conserved Domains (4) summary
      cd00204
      Location:2123
      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:899
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:105156
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:334
      ANK; ANK repeat [structural motif]
    5. XM_011525832.4XP_011524134.1  ankyrin repeat domain-containing protein 29 isoform X3

      Conserved Domains (4) summary
      cd00204
      Location:58181
      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:191
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:97148
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:2859
      ANK; ANK repeat [structural motif]
    6. XM_047437304.1XP_047293260.1  ankyrin repeat domain-containing protein 29 isoform X5

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

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

      Related
      ENSP00000465936.1, ENST00000586087.1
    9. XM_047437306.1XP_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_054318217.1XP_054174192.1  ankyrin repeat domain-containing protein 29 isoform X4

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

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

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

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

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

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

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

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