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

    Gene ID: 55130, updated on 2-Nov-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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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. Consensus nomenclature for dyneins and associated assembly factors. Braschi B, et al. J Cell Biol, 2022 Feb 7. PMID 35006274, Free PMC Article
    5. 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

    See all (19) 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
    		not available

    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 Variation Viewer (GRCh37.p13)

    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_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

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Molecular Biology Databases
    Research Materials
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