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    DIP2A disco interacting protein 2 homolog A [ Homo sapiens (human) ]

    Gene ID: 23181, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DIP2Aprovided by HGNC
    Official Full Name
    disco interacting protein 2 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:17217
    See related
    Ensembl:ENSG00000160305 MIM:607711; AllianceGenome:HGNC:17217
    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
    DIP2; C21orf106
    Summary
    The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in spleen (RPKM 7.3), prostate (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DIP2A in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46458891..46583871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44845016..44957436)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47878804..47991139)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene pericentrin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841246-47841752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841753-47842259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47842260-47842765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846379-47846880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846881-47847380 Neighboring gene ribosomal protein L18a pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47863446-47864365 Neighboring gene uncharacterized LOC124905046 Neighboring gene MPRA-validated peak4431 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18605 Neighboring gene DIP2A intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18606 Neighboring gene RNA, U6 small nuclear 396, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:48026033-48026534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:48044299-48044799 Neighboring gene S100 calcium binding protein B Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:48054684-48055354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:48061114-48061614 Neighboring gene protein arginine methyltransferase 2 Neighboring gene DSTN pseudogene 1

    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. Disco interacting protein 2 homolog A (DIP2A): A key component in the regulation of brain disorders. Zhang B, et al. Biomed Pharmacother, 2023 Dec. PMID 37897975
    2. Genetic variant in DIP2A gene is associated with developmental dyslexia in Chinese population. Kong R, et al. Am J Med Genet B Neuropsychiatr Genet, 2016 Mar. PMID 26452339
    3. Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion. Poelmans G, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Jan 5. PMID 18521840
    4. Blocking the FSTL1-DIP2A Axis Improves Anti-tumor Immunity. Kudo-Saito C, et al. Cell Rep, 2018 Aug 14. PMID 30110636
    5. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Egger G, et al. Neurogenetics, 2014 May. PMID 24643514

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disco interacting protein 2 homolog A (DIP2A): A key component in the regulation of brain disorders.
      Title: Disco interacting protein 2 homolog A (DIP2A): A key component in the regulation of brain disorders.
    2. Expression of DIP2A (the receptor of FSTL1) in tumor cells is critical for FSTL1-induced neoplastic immune resistance; FSTL1/DIP2A co-positivity in non-small-cell lung tumor (NSCLC) tissues correlates with poor prognosis in NSCLC patients.
      Title: Blocking the FSTL1-DIP2A Axis Improves Anti-tumor Immunity.
    3. An important role of Fstl1 in the regulation of temozolomide resistance by modulation of DIP2A/MGMT signaling.
      Title: Fstl1/DIP2A/MGMT signaling pathway plays important roles in temozolomide resistance in glioblastoma.
    4. a genetic variant in the DIP2A gene was associated with increased developmental dyslexia risk in China.
      Title: Genetic variant in DIP2A gene is associated with developmental dyslexia in Chinese population.
    5. DIP2A could be a cell-surface receptor protein and mediate a FOS down-regulation signal of FRP. FRP bound to DIP2A and CD14, and also with proteins of the TGF-beta superfamily
      Title: DIP2 disco-interacting protein 2 homolog A (Drosophila) is a candidate receptor for follistatin-related protein/follistatin-like 1--analysis of their binding with TGF-β superfamily proteins.
    6. These data indicate that DIP2A functions as a novel receptor that mediates the cardiovascular protective effects of FSTL1.
      Title: DIP2A functions as a FSTL1 receptor.
    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-01-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-01-23)

    ClinGen Genome Curation PagePubMed

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetate-CoA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-lysine acetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    disco-interacting protein 2 homolog A
    Names
    DIP2 disco-interacting protein 2 homolog A
    DIP2 homolog A
    disco-interacting protein 2A
    NP_001139587.1
    NP_001139588.1
    NP_001340871.1
    NP_001340872.1
    NP_001340873.1
    NP_001397680.1
    NP_055966.2
    NP_996772.1
    NP_996773.1
    NP_996774.1
    XP_011527803.1
    XP_011527804.1
    XP_016883782.1
    XP_016883791.1
    XP_047296663.1
    XP_047296664.1
    XP_047296666.1
    XP_047296667.1
    XP_047296668.1
    XP_047296669.1
    XP_047296670.1
    XP_047296671.1
    XP_047296672.1
    XP_047296673.1
    XP_047296674.1
    XP_047296675.1
    XP_047296676.1
    XP_054180346.1
    XP_054180347.1
    XP_054180348.1
    XP_054180349.1
    XP_054180350.1
    XP_054180351.1
    XP_054180352.1
    XP_054180353.1
    XP_054180354.1
    XP_054180355.1
    XP_054180356.1
    XP_054180357.1
    XP_054180358.1
    XP_054180359.1
    XP_054180360.1
    XP_054180361.1
    XP_054180362.1

    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_015996.2 RefSeqGene

      Range
      5002..116126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146115.2 → NP_001139587.1  disco-interacting protein 2 homolog A isoform f

      See identical proteins and their annotated locations for NP_001139587.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and differs in the 3' UTR and coding region compared to variant 1, that causes a frameshift. The resulting isoform (f) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AP000337, BC033718, BQ017399, DA326960
      Consensus CDS
      CCDS54491.1
      UniProtKB/Swiss-Prot
      Q14689
      Related
      ENSP00000430249.1, ENST00000466639.5
      Conserved Domains (2) summary
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:313 → 798
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. NM_001146116.2 → NP_001139588.1  disco-interacting protein 2 homolog A isoform g

      See identical proteins and their annotated locations for NP_001139588.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is 4 aa shorter compared to isoform a.
      Source sequence(s)
      AB273729, AF490768, AP000337, AP000338, DA326960
      Consensus CDS
      CCDS54490.1
      UniProtKB/Swiss-Prot
      Q14689
      Related
      ENSP00000383133.1, ENST00000400274.5
      Conserved Domains (4) summary
      COG0318
      Location:320 → 919
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam00501
      Location:987 → 1461
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:352 → 916
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. NM_001353942.2 → NP_001340871.1  disco-interacting protein 2 homolog A isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents the longest transcript and encodes the longest isoform (h).
      Source sequence(s)
      AP000337, AP000338
      Conserved Domains (2) summary
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:357 → 921
      AFD_class_I; Adenylate forming domain, Class I superfamily

    4. NM_001353943.2 → NP_001340872.1  disco-interacting protein 2 homolog A isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AP000337, AP000338
      Consensus CDS
      CCDS46655.1
      UniProtKB/Swiss-Prot
      A6P4T3, B4E0F0, E7EMA5, Q14689, Q8IVA3, Q8N4S2, Q8TD89, Q96ML9
      Related
      ENSP00000520868.1, ENST00000850580.1
      Conserved Domains (2) summary
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:356 → 920
      AFD_class_I; Adenylate forming domain, Class I superfamily

    5. NM_001353944.2 → NP_001340873.1  disco-interacting protein 2 homolog A isoform i

      Status: REVIEWED

      Source sequence(s)
      AP000337, AP000338
      Conserved Domains (2) summary
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:273 → 758
      AFD_class_I; Adenylate forming domain, Class I superfamily

    6. NM_001410751.1 → NP_001397680.1  disco-interacting protein 2 homolog A isoform j

      Status: REVIEWED

      Source sequence(s)
      AP000337, AP000338
      Consensus CDS
      CCDS93110.1
      UniProtKB/TrEMBL
      A0A494C143
      Related
      ENSP00000498874.1, ENST00000651436.1

    7. NM_015151.4 → NP_055966.2  disco-interacting protein 2 homolog A isoform a

      See identical proteins and their annotated locations for NP_055966.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variant 9, encodes isoform a.
      Source sequence(s)
      AB273729, AF490768, AP000337, AP000338, DA326960
      Consensus CDS
      CCDS46655.1
      UniProtKB/Swiss-Prot
      A6P4T3, B4E0F0, E7EMA5, Q14689, Q8IVA3, Q8N4S2, Q8TD89, Q96ML9
      Related
      ENSP00000392066.2, ENST00000417564.3
      Conserved Domains (2) summary
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:356 → 920
      AFD_class_I; Adenylate forming domain, Class I superfamily

    8. NM_206889.3 → NP_996772.1  disco-interacting protein 2 homolog A isoform b

      See identical proteins and their annotated locations for NP_996772.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB273729, AP000337, BC038443, DA326960
      Consensus CDS
      CCDS46656.1
      UniProtKB/Swiss-Prot
      Q14689
      Related
      ENSP00000393434.3, ENST00000457905.7
      Conserved Domains (3) summary
      COG0318
      Location:324 → 878
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:356 → 880
      AFD_class_I; Adenylate forming domain, Class I superfamily

    9. NM_206890.3 → NP_996773.1  disco-interacting protein 2 homolog A isoform c

      See identical proteins and their annotated locations for NP_996773.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (c) has a shorter C-terminus compared to isoform a.
      Source sequence(s)
      AB273729, AP000337, BC033718, BQ017399, DA326960
      Consensus CDS
      CCDS46657.1
      UniProtKB/Swiss-Prot
      Q14689
      Related
      ENSP00000415089.3, ENST00000435722.7
      Conserved Domains (3) summary
      pfam00501
      Location:339 → 815
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:356 → 841
      AFD_class_I; Adenylate forming domain, Class I superfamily

    10. NM_206891.3 → NP_996774.1  disco-interacting protein 2 homolog A isoform d

      See identical proteins and their annotated locations for NP_996774.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding region compared to variant 1, that causes a frameshift. The resulting isoform (d) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB273729, AF432263, AP000337, CK821329, DA326960
      UniProtKB/Swiss-Prot
      Q14689
      UniProtKB/TrEMBL
      Q96NX2
      Conserved Domains (3) summary
      pfam00501
      Location:339 → 796
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:9 → 123
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:356 → 802
      AFD_class_I; Adenylate forming domain, Class I superfamily

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      46458891..46583871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440707.1 → XP_047296663.1  disco-interacting protein 2 homolog A isoform X1

    2. XM_017028293.2 → XP_016883782.1  disco-interacting protein 2 homolog A isoform X2

    3. XM_047440710.1 → XP_047296666.1  disco-interacting protein 2 homolog A isoform X4

    4. XM_047440711.1 → XP_047296667.1  disco-interacting protein 2 homolog A isoform X5

    5. XM_047440708.1 → XP_047296664.1  disco-interacting protein 2 homolog A isoform X3

    6. XM_047440712.1 → XP_047296668.1  disco-interacting protein 2 homolog A isoform X6

    7. XM_047440713.1 → XP_047296669.1  disco-interacting protein 2 homolog A isoform X7

    8. XM_047440715.1 → XP_047296671.1  disco-interacting protein 2 homolog A isoform X9

    9. XM_017028302.3 → XP_016883791.1  disco-interacting protein 2 homolog A isoform X10

    10. XM_047440714.1 → XP_047296670.1  disco-interacting protein 2 homolog A isoform X8

    11. XM_047440716.1 → XP_047296672.1  disco-interacting protein 2 homolog A isoform X11

    12. XM_011529501.2 → XP_011527803.1  disco-interacting protein 2 homolog A isoform X12

      Conserved Domains (3) summary
      COG0318
      Location:360 → 959
      CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
      pfam06464
      Location:9 → 158
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:392 → 956
      AFD_class_I; Adenylate forming domain, Class I superfamily

    13. XM_047440717.1 → XP_047296673.1  disco-interacting protein 2 homolog A isoform X13

    14. XM_047440718.1 → XP_047296674.1  disco-interacting protein 2 homolog A isoform X14

    15. XM_047440719.1 → XP_047296675.1  disco-interacting protein 2 homolog A isoform X15

    16. XM_047440720.1 → XP_047296676.1  disco-interacting protein 2 homolog A isoform X16

    17. XM_011529502.2 → XP_011527804.1  disco-interacting protein 2 homolog A isoform X17

      Conserved Domains (3) summary
      pfam00501
      Location:375 → 851
      AMP-binding; AMP-binding enzyme
      pfam06464
      Location:9 → 158
      DMAP_binding; DMAP1-binding Domain
      cl17068
      Location:392 → 876
      AFD_class_I; Adenylate forming domain, Class I superfamily

    RNA

    1. XR_007067786.1 RNA Sequence

    2. XR_007067785.1 RNA Sequence

    3. XR_007067784.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44845016..44957436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324371.1 → XP_054180346.1  disco-interacting protein 2 homolog A isoform X1

    2. XM_054324372.1 → XP_054180347.1  disco-interacting protein 2 homolog A isoform X2

    3. XM_054324374.1 → XP_054180349.1  disco-interacting protein 2 homolog A isoform X4

    4. XM_054324375.1 → XP_054180350.1  disco-interacting protein 2 homolog A isoform X5

    5. XM_054324373.1 → XP_054180348.1  disco-interacting protein 2 homolog A isoform X3

    6. XM_054324376.1 → XP_054180351.1  disco-interacting protein 2 homolog A isoform X6

    7. XM_054324377.1 → XP_054180352.1  disco-interacting protein 2 homolog A isoform X7

    8. XM_054324379.1 → XP_054180354.1  disco-interacting protein 2 homolog A isoform X9

    9. XM_054324380.1 → XP_054180355.1  disco-interacting protein 2 homolog A isoform X10

    10. XM_054324378.1 → XP_054180353.1  disco-interacting protein 2 homolog A isoform X8

    11. XM_054324381.1 → XP_054180356.1  disco-interacting protein 2 homolog A isoform X11

    12. XM_054324382.1 → XP_054180357.1  disco-interacting protein 2 homolog A isoform X12

    13. XM_054324383.1 → XP_054180358.1  disco-interacting protein 2 homolog A isoform X13

    14. XM_054324384.1 → XP_054180359.1  disco-interacting protein 2 homolog A isoform X14

    15. XM_054324385.1 → XP_054180360.1  disco-interacting protein 2 homolog A isoform X15

    16. XM_054324386.1 → XP_054180361.1  disco-interacting protein 2 homolog A isoform X16

    17. XM_054324387.1 → XP_054180362.1  disco-interacting protein 2 homolog A isoform X17

    RNA

    1. XR_008485333.1 RNA Sequence

    2. XR_008485332.1 RNA Sequence

    3. XR_008485334.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001146114.1: Suppressed sequence

      Description
      NM_001146114.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14689.2 GenPept UniProtKB/Swiss-Prot:Q14689

    Gene LinkOut

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

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