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

Summary

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. Predicted to be located in Golgi apparatus; endosome; and lysosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney (RPKM 105.3), duodenum (RPKM 61.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p11

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (48885019..48906828, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (48851611..48873422, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (48887036..48908845, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome.
Title: Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome.
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.
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.
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.
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.
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.
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.
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.
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.

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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

SHGC-59216 (e-PCR)
- UniSTS:1956

RH104446 (e-PCR)
- UniSTS:98770

D4S1183 (e-PCR)
- UniSTS:62689

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

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)

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)
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)
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)
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)