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

Gene ID: 147463, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung (RPKM 9.3), lymph node (RPKM 4.6) and 17 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23598926..23662911, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (23793195..23857170, complement)
105.20220307 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)

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

  • 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_2023_10

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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