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

Gene ID: 132299, updated on 27-Nov-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, Nov 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: 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. 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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