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    ODAD2 outer dynein arm docking complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 55130, updated on 10-Dec-2024

    Summary

    Official Symbol
    ODAD2provided by HGNC
    Official Full Name
    outer dynein arm docking complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:25583
    See related
    Ensembl:ENSG00000169126 MIM:615408; AllianceGenome:HGNC:25583
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    gudu; ARMC4; CILD23
    Summary
    The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
    Expression
    Biased expression in testis (RPKM 10.4), lung (RPKM 1.0) and 1 other tissue See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ODAD2 in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27812168..27999675, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27843337..28030843, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28101097..28288008, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:28034239-28034829 Neighboring gene mohawk homeobox Neighboring gene MKX antisense RNA 1 Neighboring gene RN7SK pseudogene 132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_12116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:28146458-28147081 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:28200466-28201166 Neighboring gene ribosomal protein L36a pseudogene 55 Neighboring gene uncharacterized LOC112268060 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:28283413-28284612 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 5 Neighboring gene small nucleolar RNA, C/D box 130 Neighboring gene MAGUK p55 scaffold protein 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1255 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ10376, FLJ10817, FLJ32798, DKFZp434P1735

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in axoneme PubMed 
    located_in ciliary base PubMed 

    General protein information

    Preferred Names
    outer dynein arm-docking complex subunit 2
    Names
    armadillo repeat containing 4
    armadillo repeat-containing protein 4
    testis tissue sperm-binding protein Li 74n

    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.

    Genomic

    1. NG_042820.1 RefSeqGene

      Range
      4972..191883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290020.2 → NP_001276949.1  outer dynein arm-docking complex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_001276949.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 3 encode the same protein.
      Source sequence(s)
      AK292521, AK302627, DA184551
      Consensus CDS
      CCDS7157.1
      UniProtKB/Swiss-Prot
      A8K906, B7Z7I1, Q5T2S8, Q9H0C0
      UniProtKB/TrEMBL
      A0A140VKF7
      Related
      ENSP00000500782.1, ENST00000673439.1
      Conserved Domains (4) summary
      sd00044
      Location:926 → 954
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:883 → 908
      ARM; armadillo repeat [structural motif]
      cl26104
      Location:827 → 1031
      HEAT_2; HEAT repeats
      cl27106
      Location:625 → 862
      PLN03200; cellulose synthase-interactive protein; Provisional
    2. NM_001290021.2 → NP_001276950.1  outer dynein arm-docking complex subunit 2 isoform 2

      See identical proteins and their annotated locations for NP_001276950.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, causing translation initiation at a downstream start codon, and contains an alternate exon in the 3' coding region, which results in a frameshift and a slightly shorter 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK292521, AK301708, AK302048, AK302627, AL355372
      Consensus CDS
      CCDS91232.1
      UniProtKB/Swiss-Prot
      Q5T2S8
      UniProtKB/TrEMBL
      B7Z7A1, B7Z7Y0
      Related
      ENSP00000500120.1, ENST00000672877.1
      Conserved Domains (4) summary
      cd00020
      Location:359 → 473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:410 → 512
      HEAT_2; HEAT repeats
      pfam13900
      Location:547 → 572
      GVQW; Putative domain of unknown function
      sd00043
      Location:235 → 266
      ARM; armadillo repeat [structural motif]
    3. NM_001312689.2 → NP_001299618.1  outer dynein arm-docking complex subunit 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK302627, BC085611, BC140846
      Consensus CDS
      CCDS91233.1
      UniProtKB/TrEMBL
      A0A5F9ZH22, B7Z7Y0
      Related
      ENSP00000499983.1, ENST00000672841.1
      Conserved Domains (4) summary
      cd00020
      Location:526 → 640
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:577 → 679
      HEAT_2; HEAT repeats
      sd00044
      Location:618 → 646
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:575 → 600
      ARM; armadillo repeat [structural motif]
    4. NM_018076.5 → NP_060546.2  outer dynein arm-docking complex subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_060546.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AK302627, AL390866, BC085611, BC140846
      Consensus CDS
      CCDS7157.1
      UniProtKB/Swiss-Prot
      A8K906, B7Z7I1, Q5T2S8, Q9H0C0
      UniProtKB/TrEMBL
      A0A140VKF7
      Related
      ENSP00000306410.5, ENST00000305242.10
      Conserved Domains (4) summary
      sd00044
      Location:926 → 954
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:883 → 908
      ARM; armadillo repeat [structural motif]
      cl26104
      Location:827 → 1031
      HEAT_2; HEAT repeats
      cl27106
      Location:625 → 862
      PLN03200; cellulose synthase-interactive protein; Provisional

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      27812168..27999675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425404.1 → XP_047281360.1  outer dynein arm-docking complex subunit 2 isoform X4

      UniProtKB/Swiss-Prot
      A8K906, B7Z7I1, Q5T2S8, Q9H0C0
      UniProtKB/TrEMBL
      A0A140VKF7
    2. XM_024448052.2 → XP_024303820.1  outer dynein arm-docking complex subunit 2 isoform X1

      Conserved Domains (3) summary
      sd00043
      Location:710 → 741
      ARM; armadillo repeat [structural motif]
      pfam13646
      Location:885 → 990
      HEAT_2; HEAT repeats
      cl27106
      Location:449 → 684
      PLN03200; cellulose synthase-interactive protein; Provisional
    3. XM_047425414.1 → XP_047281370.1  outer dynein arm-docking complex subunit 2 isoform X9

    4. XM_047425413.1 → XP_047281369.1  outer dynein arm-docking complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      B7Z7Y0
    5. XM_047425410.1 → XP_047281366.1  outer dynein arm-docking complex subunit 2 isoform X7

    6. XM_047425408.1 → XP_047281364.1  outer dynein arm-docking complex subunit 2 isoform X6

    7. XM_047425405.1 → XP_047281361.1  outer dynein arm-docking complex subunit 2 isoform X5

    8. XM_047425401.1 → XP_047281357.1  outer dynein arm-docking complex subunit 2 isoform X3

    9. XM_024448051.2 → XP_024303819.1  outer dynein arm-docking complex subunit 2 isoform X1

      Conserved Domains (3) summary
      sd00043
      Location:710 → 741
      ARM; armadillo repeat [structural motif]
      pfam13646
      Location:885 → 990
      HEAT_2; HEAT repeats
      cl27106
      Location:449 → 684
      PLN03200; cellulose synthase-interactive protein; Provisional
    10. XM_047425411.1 → XP_047281367.1  outer dynein arm-docking complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      B7Z7Y0
    11. XM_047425409.1 → XP_047281365.1  outer dynein arm-docking complex subunit 2 isoform X7

    12. XM_047425407.1 → XP_047281363.1  outer dynein arm-docking complex subunit 2 isoform X6

    13. XM_011519527.2 → XP_011517829.1  outer dynein arm-docking complex subunit 2 isoform X3

      See identical proteins and their annotated locations for XP_011517829.1

      Conserved Domains (3) summary
      cd00020
      Location:834 → 948
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:885 → 987
      HEAT_2; HEAT repeats
      sd00043
      Location:710 → 741
      ARM; armadillo repeat [structural motif]
    14. XM_024448053.2 → XP_024303821.1  outer dynein arm-docking complex subunit 2 isoform X2

      Conserved Domains (4) summary
      sd00044
      Location:969 → 997
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:926 → 951
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:657 → 1085
      Arm_3; Atypical Arm repeat
      cl27106
      Location:449 → 684
      PLN03200; cellulose synthase-interactive protein; Provisional
    15. XM_024448049.2 → XP_024303817.1  outer dynein arm-docking complex subunit 2 isoform X1

      Conserved Domains (3) summary
      sd00043
      Location:710 → 741
      ARM; armadillo repeat [structural motif]
      pfam13646
      Location:885 → 990
      HEAT_2; HEAT repeats
      cl27106
      Location:449 → 684
      PLN03200; cellulose synthase-interactive protein; Provisional
    16. XM_047425402.1 → XP_047281358.1  outer dynein arm-docking complex subunit 2 isoform X4

      UniProtKB/Swiss-Prot
      A8K906, B7Z7I1, Q5T2S8, Q9H0C0
      UniProtKB/TrEMBL
      A0A140VKF7
    17. XM_024448050.2 → XP_024303818.1  outer dynein arm-docking complex subunit 2 isoform X1

      Conserved Domains (3) summary
      sd00043
      Location:710 → 741
      ARM; armadillo repeat [structural motif]
      pfam13646
      Location:885 → 990
      HEAT_2; HEAT repeats
      cl27106
      Location:449 → 684
      PLN03200; cellulose synthase-interactive protein; Provisional
    18. XM_047425403.1 → XP_047281359.1  outer dynein arm-docking complex subunit 2 isoform X4

      UniProtKB/Swiss-Prot
      A8K906, B7Z7I1, Q5T2S8, Q9H0C0
      UniProtKB/TrEMBL
      A0A140VKF7
    19. XM_047425412.1 → XP_047281368.1  outer dynein arm-docking complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      B7Z7Y0
    20. XM_024448057.2 → XP_024303825.1  outer dynein arm-docking complex subunit 2 isoform X11

      UniProtKB/TrEMBL
      A0A5F9ZI13
      Conserved Domains (3) summary
      sd00043
      Location:348 → 379
      ARM; armadillo repeat [structural motif]
      cl26104
      Location:506 → 674
      HEAT_2; HEAT repeats
      cl27106
      Location:87 → 322
      PLN03200; cellulose synthase-interactive protein; Provisional
    21. XM_024448055.2 → XP_024303823.1  outer dynein arm-docking complex subunit 2 isoform X10

      UniProtKB/TrEMBL
      A0A5F9ZI13
      Conserved Domains (3) summary
      sd00043
      Location:402 → 433
      ARM; armadillo repeat [structural motif]
      pfam13646
      Location:577 → 682
      HEAT_2; HEAT repeats
      cl27106
      Location:141 → 376
      PLN03200; cellulose synthase-interactive protein; Provisional
    22. XM_024448056.2 → XP_024303824.1  outer dynein arm-docking complex subunit 2 isoform X10

      UniProtKB/TrEMBL
      A0A5F9ZI13
      Conserved Domains (3) summary
      sd00043
      Location:402 → 433
      ARM; armadillo repeat [structural motif]
      pfam13646
      Location:577 → 682
      HEAT_2; HEAT repeats
      cl27106
      Location:141 → 376
      PLN03200; cellulose synthase-interactive protein; Provisional
    23. XM_024448058.2 → XP_024303826.1  outer dynein arm-docking complex subunit 2 isoform X13

      Conserved Domains (5) summary
      smart00185
      Location:49 → 89
      ARM; Armadillo/beta-catenin-like repeats
      pfam00514
      Location:149 → 186
      Arm; Armadillo/beta-catenin-like repeat
      sd00043
      Location:235 → 266
      ARM; armadillo repeat [structural motif]
      cl26104
      Location:393 → 561
      HEAT_2; HEAT repeats
      cl27106
      Location:150 → 348
      PLN03200; cellulose synthase-interactive protein; Provisional
    24. XM_017016371.2 → XP_016871860.1  outer dynein arm-docking complex subunit 2 isoform X12

      Conserved Domains (2) summary
      cd00020
      Location:488 → 593
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:571 → 617
      ARM; armadillo repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      27843337..28030843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366177.1 → XP_054222152.1  outer dynein arm-docking complex subunit 2 isoform X4

    2. XM_054366171.1 → XP_054222146.1  outer dynein arm-docking complex subunit 2 isoform X1

    3. XM_054366186.1 → XP_054222161.1  outer dynein arm-docking complex subunit 2 isoform X9

    4. XM_054366185.1 → XP_054222160.1  outer dynein arm-docking complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      B7Z7Y0
    5. XM_054366182.1 → XP_054222157.1  outer dynein arm-docking complex subunit 2 isoform X7

    6. XM_054366180.1 → XP_054222155.1  outer dynein arm-docking complex subunit 2 isoform X6

    7. XM_054366178.1 → XP_054222153.1  outer dynein arm-docking complex subunit 2 isoform X5

    8. XM_054366174.1 → XP_054222149.1  outer dynein arm-docking complex subunit 2 isoform X3

    9. XM_054366168.1 → XP_054222143.1  outer dynein arm-docking complex subunit 2 isoform X1

    10. XM_054366183.1 → XP_054222158.1  outer dynein arm-docking complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      B7Z7Y0
    11. XM_054366181.1 → XP_054222156.1  outer dynein arm-docking complex subunit 2 isoform X7

    12. XM_054366179.1 → XP_054222154.1  outer dynein arm-docking complex subunit 2 isoform X6

    13. XM_054366173.1 → XP_054222148.1  outer dynein arm-docking complex subunit 2 isoform X3

    14. XM_054366172.1 → XP_054222147.1  outer dynein arm-docking complex subunit 2 isoform X2

    15. XM_054366169.1 → XP_054222144.1  outer dynein arm-docking complex subunit 2 isoform X1

    16. XM_054366175.1 → XP_054222150.1  outer dynein arm-docking complex subunit 2 isoform X4

    17. XM_054366170.1 → XP_054222145.1  outer dynein arm-docking complex subunit 2 isoform X1

    18. XM_054366176.1 → XP_054222151.1  outer dynein arm-docking complex subunit 2 isoform X4

    19. XM_054366184.1 → XP_054222159.1  outer dynein arm-docking complex subunit 2 isoform X8

      UniProtKB/TrEMBL
      B7Z7Y0
    20. XM_054366189.1 → XP_054222164.1  outer dynein arm-docking complex subunit 2 isoform X11

      UniProtKB/TrEMBL
      A0A5F9ZI13
    21. XM_054366187.1 → XP_054222162.1  outer dynein arm-docking complex subunit 2 isoform X10

      UniProtKB/TrEMBL
      A0A5F9ZI13
    22. XM_054366188.1 → XP_054222163.1  outer dynein arm-docking complex subunit 2 isoform X10

      UniProtKB/TrEMBL
      A0A5F9ZI13
    23. XM_054366191.1 → XP_054222166.1  outer dynein arm-docking complex subunit 2 isoform X13

    24. XM_054366190.1 → XP_054222165.1  outer dynein arm-docking complex subunit 2 isoform X12

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