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ISCA2 iron-sulfur cluster assembly 2 [ Homo sapiens (human) ]

Gene ID: 122961, updated on 23-Oct-2022

Summary

Official Symbol
ISCA2provided by HGNC
Official Full Name
iron-sulfur cluster assembly 2provided by HGNC
Primary source
HGNC:HGNC:19857
See related
Ensembl:ENSG00000165898 MIM:615317; AllianceGenome:HGNC:19857
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ISA2; HBLD1; MMDS4; c14_5557
Summary
The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression
Ubiquitous expression in kidney (RPKM 13.2), thyroid (RPKM 12.0) and 25 other tissues See more
Orthologs
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Genomic context

See ISCA2 in Genome Data Viewer
Location:
14q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74493765..74497106)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68702736..68706077)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74960468..74963809)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene synapse differentiation inducing 1 like Neighboring gene microRNA 4709 Neighboring gene RAP1A, member of RAS oncogene family pseudogene Neighboring gene NPC intracellular cholesterol transporter 2 Neighboring gene uncharacterized LOC124903347 Neighboring gene latent transforming growth factor beta binding protein 2 Neighboring gene uncharacterized LOC124903346

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables iron ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein maturation by [4Fe-4S] cluster transfer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
iron-sulfur cluster assembly 2 homolog, mitochondrial
Names
HESB-like domain-containing protein 1

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.

Genomic

  1. NG_033074.1 RefSeqGene

    Range
    5046..8387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272007.2NP_001258936.1  iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC005479, BX114918, BX248252, DB501282
    Consensus CDS
    CCDS61504.1
    UniProtKB/Swiss-Prot
    Q86U28
    Related
    ENSP00000450523.1, ENST00000554924.1
  2. NM_194279.4NP_919255.2  iron-sulfur cluster assembly 2 homolog, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_919255.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005479, BX248252
    Consensus CDS
    CCDS32122.1
    UniProtKB/Swiss-Prot
    Q86U28, Q96BB2
    Related
    ENSP00000452007.1, ENST00000556816.6
    Conserved Domains (1) summary
    cl00400
    Location:7153
    Fe-S_biosyn; Iron-sulphur cluster biosynthesis

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    74493765..74497106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    68702736..68706077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)