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    ATAD2B ATPase family AAA domain containing 2B [ Homo sapiens (human) ]

    Gene ID: 54454, updated on 2-Nov-2024

    Summary

    Official Symbol
    ATAD2Bprovided by HGNC
    Official Full Name
    ATPase family AAA domain containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:29230
    See related
    Ensembl:ENSG00000119778 MIM:615347; AllianceGenome:HGNC:29230
    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
    Summary
    The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in lymph node (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATAD2B in Genome Data Viewer
    Location:
    2p24.1-p23.3
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (23677969..23927123, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (23719586..23961815, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (23971534..24149993, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 29 Neighboring gene uncharacterized LOC105374325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23727033-23727581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23728885-23729385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23739883-23740383 Neighboring gene NANOG hESC enhancer GRCh37_chr2:23742998-23743499 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:23746074-23747273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23758787-23759662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23768135-23768636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23777417-23778356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23776477-23777416 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:23786903-23787264 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:23805267-23805410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23824976-23825531 Neighboring gene uncharacterized LOC102723401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23891284-23891901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23891902-23892518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23894797-23895296 Neighboring gene MPRA-validated peak3617 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:23911725-23912270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:23925627-23926459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15416 Neighboring gene MPRA-validated peak3620 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15417 Neighboring gene phosphoglycerate mutase 1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15418 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24149008-24149926 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24149927-24150843 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:24163143-24163338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15421 Neighboring gene ribosomal protein S13 pseudogene 4 Neighboring gene UBX domain protein 2A Neighboring gene SDHC pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 610, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1240, MGC88424

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in nucleosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nucleosome disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transcription initiation-coupled chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ATPase family AAA domain-containing protein 2B

    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_029017.3 RefSeqGene

      Range
      5000..183459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242338.3NP_001229267.2  ATPase family AAA domain-containing protein 2B isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB033066, AC066692, AK094821, BC171846, BM974506
      UniProtKB/Swiss-Prot
      Q9ULI0
      Conserved Domains (4) summary
      cd05528
      Location:9601066
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:433574
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8521081
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:438572
      AAA; ATPase family associated with various cellular activities (AAA)
    2. NM_001354107.2NP_001341036.1  ATPase family AAA domain-containing protein 2B isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC009242, AC066692, AC079924, BM974506, KF456640
      Conserved Domains (2) summary
      cd05528
      Location:9741080
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      cl27568
      Location:411683
      TIP49; TIP49 C-terminus
    3. NM_017552.4NP_060022.2  ATPase family AAA domain-containing protein 2B isoform 1

      Status: REVIEWED

      Source sequence(s)
      AB033066, AC066692, AK094821, AK125718, BC171846, BM974506
      Consensus CDS
      CCDS46227.1
      UniProtKB/Swiss-Prot
      B9ZVQ5, Q6ZNA6, Q8N9E7, Q9ULI0
      Related
      ENSP00000238789.5, ENST00000238789.10
      Conserved Domains (4) summary
      cd05528
      Location:9601071
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:433574
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8521086
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:438572
      AAA; ATPase family associated with various cellular activities (AAA)

    RNA

    1. NR_125717.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB033066, AC066692, AK094821, BC171846, BM974506

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      23677969..23927123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444799.1XP_047300755.1  ATPase family AAA domain-containing protein 2B isoform X1

    2. XM_006712030.5XP_006712093.1  ATPase family AAA domain-containing protein 2B isoform X6

      Conserved Domains (4) summary
      cd05528
      Location:9741085
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8661100
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    3. XM_011532920.4XP_011531222.1  ATPase family AAA domain-containing protein 2B isoform X4

      Conserved Domains (4) summary
      cd05528
      Location:9601071
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:433574
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8521086
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:438572
      AAA; ATPase family associated with various cellular activities (AAA)
    4. XM_011532919.4XP_011531221.1  ATPase family AAA domain-containing protein 2B isoform X3

      Conserved Domains (4) summary
      cd05528
      Location:9741080
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8661095
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    5. XM_011532918.4XP_011531220.1  ATPase family AAA domain-containing protein 2B isoform X2

      Conserved Domains (4) summary
      cd05528
      Location:9741085
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8661100
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    6. XM_005264372.5XP_005264429.2  ATPase family AAA domain-containing protein 2B isoform X5

      Conserved Domains (4) summary
      cd05528
      Location:9741085
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      COG5076
      Location:8661100
      COG5076; Transcription factor involved in chromatin remodeling, contains bromodomain [Chromatin structure and dynamics / Transcription]
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    7. XM_011532924.4XP_011531226.1  ATPase family AAA domain-containing protein 2B isoform X7

      Conserved Domains (3) summary
      cd05528
      Location:9741059
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    8. XM_011532925.4XP_011531227.1  ATPase family AAA domain-containing protein 2B isoform X8

      Conserved Domains (3) summary
      cd05528
      Location:9741059
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    9. XM_047444801.1XP_047300757.1  ATPase family AAA domain-containing protein 2B isoform X11

    10. XM_047444800.1XP_047300756.1  ATPase family AAA domain-containing protein 2B isoform X10

    11. XM_006712031.5XP_006712094.1  ATPase family AAA domain-containing protein 2B isoform X9

      Conserved Domains (3) summary
      cd05528
      Location:9741058
      Bromo_AAA; Bromodomain; sub-family co-occurring with AAA domains. Bromodomains are 110 amino acid long domains, that are found in many chromatin associated proteins. Bromodomains can interact specifically with acetylated lysine. The structure(2DKW) in this ...
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    12. XM_047444803.1XP_047300759.1  ATPase family AAA domain-containing protein 2B isoform X13

    13. XM_047444802.1XP_047300758.1  ATPase family AAA domain-containing protein 2B isoform X12

    14. XM_011532928.3XP_011531230.1  ATPase family AAA domain-containing protein 2B isoform X14

      See identical proteins and their annotated locations for XP_011531230.1

      Conserved Domains (2) summary
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    15. XM_011532929.4XP_011531231.1  ATPase family AAA domain-containing protein 2B isoform X15

      Conserved Domains (2) summary
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    16. XM_011532931.4XP_011531233.1  ATPase family AAA domain-containing protein 2B isoform X17

      Conserved Domains (2) summary
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    17. XM_047444804.1XP_047300760.1  ATPase family AAA domain-containing protein 2B isoform X14

    18. XM_047444805.1XP_047300761.1  ATPase family AAA domain-containing protein 2B isoform X18

    19. XM_011532930.4XP_011531232.1  ATPase family AAA domain-containing protein 2B isoform X16

      Conserved Domains (2) summary
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    20. XM_047444806.1XP_047300762.1  ATPase family AAA domain-containing protein 2B isoform X20

    21. XM_011532932.3XP_011531234.1  ATPase family AAA domain-containing protein 2B isoform X19

      See identical proteins and their annotated locations for XP_011531234.1

      Conserved Domains (2) summary
      smart00382
      Location:447588
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:452586
      AAA; ATPase family associated with various cellular activities (AAA)
    22. XM_047444808.1XP_047300764.1  ATPase family AAA domain-containing protein 2B isoform X22

    23. XM_047444807.1XP_047300763.1  ATPase family AAA domain-containing protein 2B isoform X21

    RNA

    1. XR_001738780.3 RNA Sequence

    2. XR_001738782.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      23719586..23961815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342610.1XP_054198585.1  ATPase family AAA domain-containing protein 2B isoform X1

    2. XM_054342616.1XP_054198591.1  ATPase family AAA domain-containing protein 2B isoform X23

    3. XM_054342611.1XP_054198586.1  ATPase family AAA domain-containing protein 2B isoform X1

    4. XM_054342614.1XP_054198589.1  ATPase family AAA domain-containing protein 2B isoform X4

    5. XM_054342613.1XP_054198588.1  ATPase family AAA domain-containing protein 2B isoform X3

    6. XM_054342612.1XP_054198587.1  ATPase family AAA domain-containing protein 2B isoform X2

    7. XM_054342615.1XP_054198590.1  ATPase family AAA domain-containing protein 2B isoform X5

    8. XM_054342617.1XP_054198592.1  ATPase family AAA domain-containing protein 2B isoform X7

    9. XM_054342618.1XP_054198593.1  ATPase family AAA domain-containing protein 2B isoform X8

    10. XM_054342621.1XP_054198596.1  ATPase family AAA domain-containing protein 2B isoform X11

    11. XM_054342620.1XP_054198595.1  ATPase family AAA domain-containing protein 2B isoform X10

    12. XM_054342619.1XP_054198594.1  ATPase family AAA domain-containing protein 2B isoform X9

    13. XM_054342623.1XP_054198598.1  ATPase family AAA domain-containing protein 2B isoform X13

    14. XM_054342622.1XP_054198597.1  ATPase family AAA domain-containing protein 2B isoform X12

    15. XM_054342624.1XP_054198599.1  ATPase family AAA domain-containing protein 2B isoform X14

    16. XM_054342626.1XP_054198601.1  ATPase family AAA domain-containing protein 2B isoform X15

    17. XM_054342628.1XP_054198603.1  ATPase family AAA domain-containing protein 2B isoform X17

    18. XM_054342625.1XP_054198600.1  ATPase family AAA domain-containing protein 2B isoform X14

    19. XM_054342627.1XP_054198602.1  ATPase family AAA domain-containing protein 2B isoform X16

    20. XM_054342629.1XP_054198604.1  ATPase family AAA domain-containing protein 2B isoform X18

    21. XM_054342631.1XP_054198606.1  ATPase family AAA domain-containing protein 2B isoform X20

    22. XM_054342630.1XP_054198605.1  ATPase family AAA domain-containing protein 2B isoform X19

    23. XM_054342633.1XP_054198608.1  ATPase family AAA domain-containing protein 2B isoform X22

    24. XM_054342632.1XP_054198607.1  ATPase family AAA domain-containing protein 2B isoform X21

    RNA

    1. XR_008486420.1 RNA Sequence

    2. XR_008486421.1 RNA Sequence