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

Gene ID: 23181, updated on 4-Jul-2021

Summary

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
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
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Genomic context

See DIP2A in Genome Data Viewer
Location:
21q22.3
Exon count:
42
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (46458891..46571226)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47878804..47991139)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene chromosome 21 open reading frame 58 Neighboring gene ybeY metalloendoribonuclease Neighboring gene pericentrin Neighboring gene ribosomal protein L18a pseudogene 2 Neighboring gene DIP2A intronic transcript 1 Neighboring gene RNA, U6 small nuclear 396, pseudogene Neighboring gene S100 calcium binding protein B Neighboring gene protein arginine methyltransferase 2 Neighboring gene DSTN pseudogene 1

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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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

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_055966.2
NP_996772.1
NP_996773.1
NP_996774.1
XP_011527794.1
XP_011527803.1
XP_011527804.1
XP_016883780.1
XP_016883781.1
XP_016883782.1
XP_016883783.1
XP_016883784.1
XP_016883786.1
XP_016883787.1
XP_016883788.1
XP_016883789.1
XP_016883790.1
XP_016883791.1
XP_016883792.1
XP_016883793.1
XP_016883794.1

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_015996.1 RefSeqGene

    Range
    4943..116067
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146115.2NP_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:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:313798
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. NM_001146116.2NP_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:320919
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam00501
    Location:9871461
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:352916
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. NM_001353942.2NP_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:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:357921
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. NM_001353943.2NP_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
    Conserved Domains (2) summary
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:356920
    AFD_class_I; Adenylate forming domain, Class I superfamily
  5. NM_001353944.2NP_001340873.1  disco-interacting protein 2 homolog A isoform i

    Status: REVIEWED

    Source sequence(s)
    AP000337, AP000338
    Conserved Domains (2) summary
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:273758
    AFD_class_I; Adenylate forming domain, Class I superfamily
  6. NM_015151.4NP_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
    Q14689
    Related
    ENSP00000392066.2, ENST00000417564.3
    Conserved Domains (2) summary
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:356920
    AFD_class_I; Adenylate forming domain, Class I superfamily
  7. NM_206889.3NP_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:324878
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:356880
    AFD_class_I; Adenylate forming domain, Class I superfamily
  8. NM_206890.3NP_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:339815
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:356841
    AFD_class_I; Adenylate forming domain, Class I superfamily
  9. NM_206891.3NP_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:339796
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:356802
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    46458891..46571226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028300.1XP_016883789.1  disco-interacting protein 2 homolog A isoform X8

  2. XM_017028301.1XP_016883790.1  disco-interacting protein 2 homolog A isoform X9

  3. XM_011529492.2XP_011527794.1  disco-interacting protein 2 homolog A isoform X1

    Conserved Domains (4) summary
    COG0318
    Location:360959
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam00501
    Location:10271501
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9158
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:392956
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. XM_017028291.1XP_016883780.1  disco-interacting protein 2 homolog A isoform X1

    Conserved Domains (4) summary
    COG0318
    Location:360959
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam00501
    Location:10271501
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9158
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:392956
    AFD_class_I; Adenylate forming domain, Class I superfamily
  5. XM_017028292.1XP_016883781.1  disco-interacting protein 2 homolog A isoform X1

    Conserved Domains (4) summary
    COG0318
    Location:360959
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam00501
    Location:10271501
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9158
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:392956
    AFD_class_I; Adenylate forming domain, Class I superfamily
  6. XM_017028293.1XP_016883782.1  disco-interacting protein 2 homolog A isoform X2

  7. XM_017028297.1XP_016883786.1  disco-interacting protein 2 homolog A isoform X5

  8. XM_017028299.1XP_016883788.1  disco-interacting protein 2 homolog A isoform X7

  9. XM_017028303.1XP_016883792.1  disco-interacting protein 2 homolog A isoform X11

  10. XM_017028304.1XP_016883793.1  disco-interacting protein 2 homolog A isoform X12

  11. XM_011529501.1XP_011527803.1  disco-interacting protein 2 homolog A isoform X13

    Conserved Domains (3) summary
    COG0318
    Location:360959
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
    pfam06464
    Location:9158
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:392956
    AFD_class_I; Adenylate forming domain, Class I superfamily
  12. XM_017028305.1XP_016883794.1  disco-interacting protein 2 homolog A isoform X14

    Conserved Domains (3) summary
    pfam00501
    Location:375851
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9158
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:392876
    AFD_class_I; Adenylate forming domain, Class I superfamily
  13. XM_011529502.1XP_011527804.1  disco-interacting protein 2 homolog A isoform X14

    Conserved Domains (3) summary
    pfam00501
    Location:375851
    AMP-binding; AMP-binding enzyme
    pfam06464
    Location:9158
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:392876
    AFD_class_I; Adenylate forming domain, Class I superfamily
  14. XM_017028294.2XP_016883783.1  disco-interacting protein 2 homolog A isoform X3

    Conserved Domains (2) summary
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:357921
    AFD_class_I; Adenylate forming domain, Class I superfamily
  15. XM_017028295.2XP_016883784.1  disco-interacting protein 2 homolog A isoform X4

    UniProtKB/Swiss-Prot
    Q14689
    Conserved Domains (2) summary
    pfam06464
    Location:9123
    DMAP_binding; DMAP1-binding Domain
    cl17068
    Location:356920
    AFD_class_I; Adenylate forming domain, Class I superfamily
  16. XM_017028298.2XP_016883787.1  disco-interacting protein 2 homolog A isoform X6

  17. XM_017028302.2XP_016883791.1  disco-interacting protein 2 homolog A isoform X10

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.
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