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

Gene ID: 55130, updated on 23-Nov-2021

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
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
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Genomic context

See ODAD2 in Genome Data Viewer
Location:
10p12.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (27812166..27999500, complement)
105.20201022 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 mohawk homeobox Neighboring gene MKX antisense RNA 1 Neighboring gene RN7SK pseudogene 132 Neighboring gene ribosomal protein L36a pseudogene 55 Neighboring gene uncharacterized LOC112268060 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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Primary ciliary dyskinesia 23
MedGen: C3809548 OMIM: 615451 GeneReviews: Primary Ciliary Dyskinesia
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
involved_in cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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

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_001290020.2NP_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
    Q5T2S8
    UniProtKB/TrEMBL
    A0A140VKF7, B7Z7Y0
    Related
    ENSP00000500782.1, ENST00000673439.1
    Conserved Domains (4) summary
    sd00044
    Location:926954
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:883908
    ARM; armadillo repeat [structural motif]
    cl26104
    Location:8271031
    HEAT_2; HEAT repeats
    cl27106
    Location:625862
    PLN03200; cellulose synthase-interactive protein; Provisional
  2. NM_001290021.2NP_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
    UniProtKB/Swiss-Prot
    Q5T2S8
    UniProtKB/TrEMBL
    B7Z7A1, B7Z7Y0
    Related
    ENSP00000500120.1, ENST00000672877.1
    Conserved Domains (4) summary
    cd00020
    Location:359473
    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:410512
    HEAT_2; HEAT repeats
    pfam13900
    Location:547572
    GVQW; Putative domain of unknown function
    sd00043
    Location:235266
    ARM; armadillo repeat [structural motif]
  3. NM_001312689.2NP_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
    UniProtKB/Swiss-Prot
    Q5T2S8
    UniProtKB/TrEMBL
    B7Z7Y0
    Related
    ENSP00000499983.1, ENST00000672841.1
    Conserved Domains (4) summary
    cd00020
    Location:526640
    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:577679
    HEAT_2; HEAT repeats
    sd00044
    Location:618646
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:575600
    ARM; armadillo repeat [structural motif]
  4. NM_018076.5NP_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
    Q5T2S8
    UniProtKB/TrEMBL
    A0A140VKF7, B7Z7Y0
    Related
    ENSP00000306410.5, ENST00000305242.10
    Conserved Domains (4) summary
    sd00044
    Location:926954
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:883908
    ARM; armadillo repeat [structural motif]
    cl26104
    Location:8271031
    HEAT_2; HEAT repeats
    cl27106
    Location:625862
    PLN03200; cellulose synthase-interactive protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    27812166..27999500 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448052.1XP_024303820.1  outer dynein arm-docking complex subunit 2 isoform X1

    Conserved Domains (3) summary
    sd00043
    Location:710741
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:885990
    HEAT_2; HEAT repeats
    cl27106
    Location:449684
    PLN03200; cellulose synthase-interactive protein; Provisional
  2. XM_024448051.1XP_024303819.1  outer dynein arm-docking complex subunit 2 isoform X1

    Conserved Domains (3) summary
    sd00043
    Location:710741
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:885990
    HEAT_2; HEAT repeats
    cl27106
    Location:449684
    PLN03200; cellulose synthase-interactive protein; Provisional
  3. XM_024448054.1XP_024303822.1  outer dynein arm-docking complex subunit 2 isoform X4

    Conserved Domains (4) summary
    pfam00514
    Location:554591
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:640671
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:815920
    HEAT_2; HEAT repeats
    cl27106
    Location:555753
    PLN03200; cellulose synthase-interactive protein; Provisional
  4. XM_011519527.1XP_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:834948
    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:885987
    HEAT_2; HEAT repeats
    sd00043
    Location:710741
    ARM; armadillo repeat [structural motif]
  5. XM_024448053.1XP_024303821.1  outer dynein arm-docking complex subunit 2 isoform X2

    Conserved Domains (4) summary
    sd00044
    Location:969997
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:926951
    ARM; armadillo repeat [structural motif]
    cl25709
    Location:6571085
    Arm_3; Atypical Arm repeat
    cl27106
    Location:449684
    PLN03200; cellulose synthase-interactive protein; Provisional
  6. XM_024448049.1XP_024303817.1  outer dynein arm-docking complex subunit 2 isoform X1

    Conserved Domains (3) summary
    sd00043
    Location:710741
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:885990
    HEAT_2; HEAT repeats
    cl27106
    Location:449684
    PLN03200; cellulose synthase-interactive protein; Provisional
  7. XM_024448050.1XP_024303818.1  outer dynein arm-docking complex subunit 2 isoform X1

    Conserved Domains (3) summary
    sd00043
    Location:710741
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:885990
    HEAT_2; HEAT repeats
    cl27106
    Location:449684
    PLN03200; cellulose synthase-interactive protein; Provisional
  8. XM_024448057.1XP_024303825.1  outer dynein arm-docking complex subunit 2 isoform X6

    Conserved Domains (3) summary
    sd00043
    Location:348379
    ARM; armadillo repeat [structural motif]
    cl26104
    Location:506674
    HEAT_2; HEAT repeats
    cl27106
    Location:87322
    PLN03200; cellulose synthase-interactive protein; Provisional
  9. XM_024448055.1XP_024303823.1  outer dynein arm-docking complex subunit 2 isoform X5

    Conserved Domains (3) summary
    sd00043
    Location:402433
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:577682
    HEAT_2; HEAT repeats
    cl27106
    Location:141376
    PLN03200; cellulose synthase-interactive protein; Provisional
  10. XM_024448056.1XP_024303824.1  outer dynein arm-docking complex subunit 2 isoform X5

    Conserved Domains (3) summary
    sd00043
    Location:402433
    ARM; armadillo repeat [structural motif]
    pfam13646
    Location:577682
    HEAT_2; HEAT repeats
    cl27106
    Location:141376
    PLN03200; cellulose synthase-interactive protein; Provisional
  11. XM_024448058.1XP_024303826.1  outer dynein arm-docking complex subunit 2 isoform X8

    Conserved Domains (5) summary
    smart00185
    Location:4989
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:149186
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:235266
    ARM; armadillo repeat [structural motif]
    cl26104
    Location:393561
    HEAT_2; HEAT repeats
    cl27106
    Location:150348
    PLN03200; cellulose synthase-interactive protein; Provisional
  12. XM_017016371.1XP_016871860.1  outer dynein arm-docking complex subunit 2 isoform X7

    Conserved Domains (2) summary
    cd00020
    Location:488593
    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:571617
    ARM; armadillo repeat [structural motif]

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.
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