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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
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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

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