CIAO2A cytosolic iron-sulfur assembly component 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIAO2Aprovided by HGNC
Official Full Name: cytosolic iron-sulfur assembly component 2Aprovided by HGNC
Primary source: HGNC:HGNC:26235
See related: Ensembl:ENSG00000166797 MIM:618382; AllianceGenome:HGNC:26235
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: CIA2A; FAM96A
Summary: Predicted to enable metal ion binding activity. Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytosol and nucleoplasm. Part of CIA complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver (RPKM 13.5), duodenum (RPKM 11.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (64072565..64093838, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (61879723..61900991, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (64364764..64386037, complement)

Chromosome 15 - NC_000015.10 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?

FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFbeta1 signals.
Title: FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFβ1 signals.
our data suggest that hTERTR-FAM96A may serve as an efficient anti-tumor agent for the treatment of hepatocellular carcinoma.
Title: A multi-target protein of hTERTR-FAM96A presents significant anticancer potent in the treatment of hepatocellular carcinoma.
FAM96A expression was much reduced in tumorigenic ICC-SCs.
Title: FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumors.
CIA2B-CIA1-MMS19 and CIA2A-CIA1 assist different branches of Fe/S protein assembly and intimately link this process to cellular iron regulation via IRP1 Fe/S cluster maturation and IRP2 stabilization.
Title: Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.
putative metal-binding site of bacterial DUF59 proteins is not conserved in Fam96a, but Fam96a interacts tightly in vitro with Ciao1, the cytosolic iron-assembly protein
Title: The mammalian DUF59 protein Fam96a forms two distinct types of domain-swapped dimer.

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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

G19675 (e-PCR)
- UniSTS:21019

RH45603 (e-PCR)
- UniSTS:21383

FLJ22875 (e-PCR)
- UniSTS:278420

RH45716 (e-PCR)
- UniSTS:70361

RH66054 (e-PCR)
- UniSTS:45535

RH70413 (e-PCR)
- UniSTS:72167

RH16689 (e-PCR)
- UniSTS:86013

Homology

Homologs of the CIAO2A gene: The CIAO2A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 493 organisms have orthologs with human gene CIAO2A
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in iron-sulfur cluster assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein maturation by [4Fe-4S] cluster transfer	IEA Inferred from Electronic Annotation more info
involved_in protein maturation by iron-sulfur cluster transfer	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of CIA complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytosolic iron-sulfur assembly component 2A

Names: MIP18 family protein FAM96A; family with sequence similarity 96 member A

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_001014812.3 → NP_001014812.1 cytosolic iron-sulfur assembly component 2A isoform b precursor

See identical proteins and their annotated locations for NP_001014812.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an internal coding exon that causes a frame-shift compared to variant 1. The resulting shorter isoform (b) has a distinct C-terminus compared to isoform a. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AC021541

Consensus CDS

CCDS45278.1

UniProtKB/Swiss-Prot

Q9H5X1

Related

ENSP00000369644.3, ENST00000380290.7

Conserved Domains (1) summary

cl00941
Location:39 → 96

FeS_assembly_P; Iron-sulfur cluster assembly protein
NM_001289108.2 → NP_001276037.1 cytosolic iron-sulfur assembly component 2A isoform b precursor

See identical proteins and their annotated locations for NP_001276037.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an internal coding exon that causes a frame-shift and differs at the 3' end compared to variant 1. The resulting shorter isoform (b) has a distinct C-terminus compared to isoform a. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AC021541

Consensus CDS

CCDS45278.1

UniProtKB/Swiss-Prot

Q9H5X1

Related

ENSP00000454079.1, ENST00000557835.5

Conserved Domains (1) summary

cl00941
Location:39 → 96

FeS_assembly_P; Iron-sulfur cluster assembly protein
NM_032231.7 → NP_115607.1 cytosolic iron-sulfur assembly component 2A isoform a precursor

See identical proteins and their annotated locations for NP_115607.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (a).

Source sequence(s)

AC021541

Consensus CDS

CCDS10189.1

UniProtKB/Swiss-Prot

B7Z8Z5, Q9H5X1

Related

ENSP00000300030.3, ENST00000300030.8

Conserved Domains (1) summary

cl00941
Location:39 → 156

FeS_assembly_P; Iron-sulfur cluster assembly protein

RNA

NR_110310.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains a novel exon in the 5' region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC021541