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    OCIAD2 OCIA domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 132299, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OCIAD2provided by HGNC
    Official Full Name
    OCIA domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28685
    See related
    Ensembl:ENSG00000145247 MIM:619633; AllianceGenome:HGNC:28685
    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
    Summary
    Predicted to be involved in endocytosis; hematopoietic stem cell homeostasis; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to act upstream of or within response to bacterium. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 105.3), duodenum (RPKM 61.3) and 22 other tissues See more
    Orthologs
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    Genomic context

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    See OCIAD2 in Genome Data Viewer
    Location:
    4p11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (48885019..48906828, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (48851611..48873422, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (48887036..48908845, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene FRY like transcription coactivator Neighboring gene RNA, U5E small nuclear 3, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3875 Neighboring gene Sharpr-MPRA regulatory region 7734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15414 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:48832895-48833458 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:48833459-48834021 Neighboring gene OCIA domain containing 1 Neighboring gene OCIAD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:48925455-48925954 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene RNA, U6 small nuclear 158, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. OCIAD2 promotes pancreatic cancer progression through the AKT signaling pathway. Yin YF, et al. Gene, 2024 Nov 15. PMID 38944166
    2. Pathway bridge based multiobjective optimization approach for lurking pathway prediction. Zhang R, et al. Biomed Res Int, 2014. PMID 24949437, Free PMC Article
    3. Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome. Maki M, et al. Pathol Int, 2022 Oct. PMID 35920378
    4. OCIAD2 suppressed tumor growth and invasion via AKT pathway in Hepatocelluar carcinoma. Wu D, et al. Carcinogenesis, 2017 Sep 1. PMID 28911005, Free PMC Article
    5. High expression of ovarian cancer immunoreactive antigen domain containing 2 (OCIAD2) is associated with poor prognosis in lung adenocarcinoma. Sakashita M, et al. Pathol Int, 2018 Nov. PMID 30320419

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OCIAD2 promotes pancreatic cancer progression through the AKT signaling pathway.
      Title: OCIAD2 promotes pancreatic cancer progression through the AKT signaling pathway.
    2. Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome.
      Title: Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome.
    3. Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is a novel complex III-specific assembly factor in mitochondria.
      Title: Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is a novel complex III-specific assembly factor in mitochondria.
    4. Ovarian carcinoma immunoreactive antigen domain 2 controls mitochondrial apoptosis in lung adenocarcinoma.
      Title: Ovarian carcinoma immunoreactive antigen domain 2 controls mitochondrial apoptosis in lung adenocarcinoma.
    5. Cellular OCIAD2 protein is a proviral factor for hepatitis C virus replication.
      Title: Cellular OCIAD2 protein is a proviral factor for hepatitis C virus replication.
    6. Our results suggest that OCIAD2 could be a useful prognostic biomarker of lung adenocarcinoma
      Title: High expression of ovarian cancer immunoreactive antigen domain containing 2 (OCIAD2) is associated with poor prognosis in lung adenocarcinoma.
    7. these data indicate that reduced expression of OCIAD2 by DNA hypermethylation plays an important role in hepatocellular carcinoma tumor growth and invasion.
      Title: OCIAD2 suppressed tumor growth and invasion via AKT pathway in Hepatocelluar carcinoma.
    8. it well explained the mechanism of TGFbeta induced OCIAD2 expression in cancer microenvironment, therefore providing an important clue for the future functional analysis of OCIAD2 in tumor pathogenesis.
      Title: Pathway bridge based multiobjective optimization approach for lurking pathway prediction.
    9. OCIAD2 also increased the interaction of nicastrin with C99 and stimulated APP processing via gamma-secretase activation, but did not affect Notch processing
      Title: OCIAD2 activates γ-secretase to enhance amyloid β production by interacting with nicastrin.
    10. Like OCIAD1, OCIAD2 is a cancer-related protein and its expression level increases during the course of malignant progression and is thought to be a very useful marker for evaluating the malignancy of ovarian mucinous tumors.
      Title: Increased expression of OCIA domain containing 2 during stepwise progression of ovarian mucinous tumor.
    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

    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

    • MGC45416, DKFZp686C03164

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in hematopoietic stem cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of receptor signaling pathway via JAK-STAT ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    OCIA domain-containing protein 2
    Names
    ovarian cancer immunoreactive antigen domain containing 2
    ovarian carcinoma immunoreactive antigen-like protein

    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_001014446.3 → NP_001014446.1  OCIA domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001014446.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC105444, AK298305
      Consensus CDS
      CCDS33981.1
      UniProtKB/Swiss-Prot
      B4DPE7, Q56VL3, Q8N544
      Related
      ENSP00000423014.1, ENST00000508632.6
      Conserved Domains (1) summary
      pfam07051
      Location:15 → 119
      OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

    2. NM_001286773.2 → NP_001273702.1  OCIA domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001273702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC105444, BC032808, BG748993, BI546814, W68799
      Consensus CDS
      CCDS3485.1
      UniProtKB/TrEMBL
      J3KPI9
      Related
      ENSP00000483997.1, ENST00000620187.4
      Conserved Domains (1) summary
      pfam07051
      Location:33 → 88
      OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

    3. NM_001286774.2 → NP_001273703.1  OCIA domain-containing protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1
      Source sequence(s)
      AC105444, BG748993, BI546814, BU508058
      Conserved Domains (1) summary
      pfam07051
      Location:1 → 55
      OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

    4. NM_152398.4 → NP_689611.1  OCIA domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_689611.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC105444, BC032808, BG748993
      Consensus CDS
      CCDS3485.1
      UniProtKB/TrEMBL
      J3KPI9
      Related
      ENSP00000273860.4, ENST00000273860.8
      Conserved Domains (1) summary
      pfam07051
      Location:33 → 88
      OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

    RNA

    1. NR_104589.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BG748993, BI546814, BM756234
      Related
      ENST00000506226.6

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      48885019..48906828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      48851611..48873422 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q56VL3.1 GenPept UniProtKB/Swiss-Prot:Q56VL3

    Gene LinkOut

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

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