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    GDAP2 ganglioside induced differentiation associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 54834, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GDAP2provided by HGNC
    Official Full Name
    ganglioside induced differentiation associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:18010
    See related
    Ensembl:ENSG00000196505 MIM:618128; AllianceGenome:HGNC:18010
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCAR27; MACROD3
    Summary
    Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 1.6), thyroid (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GDAP2 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (117863485..117929621, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (117872721..117938867, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (118406107..118472244, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proline rich nuclear receptor coactivator 2 pseudogene 1 Neighboring gene uncharacterized LOC105378929 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:118380956-118382155 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:118385371-118386036 Neighboring gene Sharpr-MPRA regulatory region 13757 Neighboring gene WD repeat domain 3 Neighboring gene sperm associated antigen 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:118546660-118547175 Neighboring gene uncharacterized LOC105378930

    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
    • 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. Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. Liu H, et al. J Neurochem, 1999 May. PMID 10217254
    2. Hereditary Ataxia Overview. Adam MP, et al. , 1993. PMID 20301317
    3. A systems-wide screen identifies substrates of the SCFβTrCP ubiquitin ligase. Low TY, et al. Sci Signal, 2014 Dec 16. PMID 25515538
    4. Integral and associated lysosomal membrane proteins. Schröder B, et al. Traffic, 2007 Dec. PMID 17897319
    5. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Associated conditions

    Description Tests
    Spinocerebellar ataxia, autosomal recessive 27
    MedGen: C5193058 OMIM: 618369 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20142, dJ776P7.1

    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 response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in lysosomal membrane HDA PubMed 

    General protein information

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    Preferred Names
    ganglioside-induced differentiation-associated protein 2

    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.

    mRNA and Protein(s)

    1. NM_001135589.3 → NP_001129061.1  ganglioside-induced differentiation-associated protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129061.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a 3' terminal exon that extends past a splice site, compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AI125031, BC013132, BX100817, DB043931
      Consensus CDS
      CCDS44201.1
      UniProtKB/Swiss-Prot
      Q9NXN4
      Related
      ENSP00000358450.3, ENST00000369442.3
      Conserved Domains (2) summary
      cd02905
      Location:54 → 193
      Macro_GDAP2_like; Macro domain, GDAP2_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...
      pfam13716
      Location:349 → 470
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    2. NM_017686.4 → NP_060156.1  ganglioside-induced differentiation-associated protein 2 isoform a

      See identical proteins and their annotated locations for NP_060156.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA825512, AK000149, AL122007, BJ992034, BX459360, DB043931
      Consensus CDS
      CCDS897.1
      UniProtKB/Swiss-Prot
      Q96DZ0, Q9NXN4
      Related
      ENSP00000358451.4, ENST00000369443.10
      Conserved Domains (2) summary
      cd02905
      Location:54 → 193
      Macro_GDAP2_like; Macro domain, GDAP2_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...
      pfam13716
      Location:349 → 480
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      117863485..117929621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      117872721..117938867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXN4.1 GenPept UniProtKB/Swiss-Prot:Q9NXN4

    Gene LinkOut

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

    Chemical Information
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