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

Gene ID: 55130, updated on 3-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
10p12.1
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27812168..27999675, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27843337..28030843, complement)
105.20220307 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

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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. Gudu, an Armadillo repeat-containing protein, is required for spermatogenesis in Drosophila. Cheng W, et al. Gene, 2013 Dec 1. PMID 24055424, Free PMC Article
  2. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Raidt J, et al. Eur Respir J, 2014 Dec. PMID 25186273
  3. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Onoufriadis A, et al. J Med Genet, 2014 Jan. PMID 24203976, Free PMC Article
  4. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Hjeij R, et al. Am J Hum Genet, 2013 Aug 8. PMID 23849778, Free PMC Article
  5. Primary Ciliary Dyskinesia. Adam MP, et al. , 1993. PMID 20301301

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
    Title: Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
  2. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
    Title: ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

Associated conditions

Description Tests
Primary ciliary dyskinesia 23
MedGen: C3809548 OMIM: 615451 GeneReviews: Primary Ciliary Dyskinesia
Compare labs

EBI GWAS Catalog

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

  • FLJ10376, FLJ10817, FLJ32798, DKFZp434P1735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cilium movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cilium beat frequency IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ventricular system development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary base IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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.

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_2023_10

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

  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

  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

  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

  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

  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

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

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

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

  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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032150.1: Suppressed sequence

    Description
    NM_032150.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T2S8.1 GenPept UniProtKB/Swiss-Prot:Q5T2S8

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