Isca2 MGI Mouse Gene Detail - MGI:1921566 - iron-sulfur cluster assembly 2

Symbol

Isca2
Name

iron-sulfur cluster assembly 2
Synonyms

0710001C05Rik, 5730594E03Rik, Hbld1

Feature Type

protein coding gene
IDs

MGI:1921566
NCBI Gene: 74316
Alliance

genome feature page
Transcription Start Sites

3 TSS

Sequence Map

Chr12:84820025-84821862 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 39.38 cM, cytoband D3
Mapping Data

2 experiments

SNPs within 2kb

125 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921566	protein coding gene	Chr12:84820007-84821863 (+)
129S1/SvImJ	ENSMUSG00200049706	protein coding gene	Chr12:76834536-76836370 (+)
A/J	ENSMUSG00195032652	protein coding gene	Chr12:79454066-79455900 (+)
AKR/J	ENSMUSG00220045514	protein coding gene	Chr12:77249124-77250958 (+)
BALB/cJ	ENSMUSG00180018333	protein coding gene	Chr12:78491874-78493708 (+)
C3H/HeJ	ENSMUSG00175036249	protein coding gene	Chr12:81584958-81586792 (+)
C57BL/6NJ	ENSMUSG00215042361	protein coding gene	Chr12:77798372-77800206 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017951	protein coding gene	Chr12:79159471-79161306 (+)
CAST/EiJ	ENSTCUG00005025603	protein coding gene	Chr12:77764100-77765946 (+)
CBA/J	ENSMUSG00210041184	protein coding gene	Chr12:77998211-78000045 (+)
DBA/2J	ENSMUSG00185041817	protein coding gene	Chr12:79855415-79857249 (+)
FVB/NJ	ENSMUSG00205016470	protein coding gene	Chr12:77666889-77668723 (+)
JF1/MsJ	ENSUMUG00000022966	protein coding gene	Chr12:83845585-83847433 (+)
LP/J	ENSMUSG00230040564	protein coding gene	Chr12:86917705-86919539 (+)
NOD/ShiLtJ	ENSMUSG00190035488	protein coding gene	Chr12:77055195-77057029 (+)
NZO/HlLtJ	ENSMUSG00225050567	protein coding gene	Chr12:88954775-88956609 (+)
PWK/PhJ	ENSLUMG00010024023	protein coding gene	Chr12:77862059-77863907 (+)
SPRET/EiJ	ENSMSPG00010019817	protein coding gene	Chr12:79680095-79682295 (+)
WSB/EiJ	ENSIUOG00005036142	protein coding gene	Chr12:77690984-77692818 (+)

Human Ortholog

ISCA2, iron-sulfur cluster assembly 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ISCA2, iron-sulfur cluster assembly 2
Synonyms

c14_5557, HBLD1, ISA2, MMDS4
Links

HGNC:19857

NCBI Gene ID: 122961

UniProt: Q86U28
Chr Location

14q24.3; chr14:74493756-74497106 (+) GRCh38

MGI Vertebrate Homology

Isca2 stringent orthology
1 human;1 mouse;2 rat;1 zebrafish
HCOP

vertebrate homology predictions: ISCA2
Gene Tree

Isca2

Diseases

1 with human ISCA2 associations

				Human Disease	Mouse Models
				multiple mitochondrial dysfunctions syndrome 4 IDs multiple mitochondrial dysfunctions syndrome 4 DOID:0080136 OMIM:616370 ORDO:457406

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

7 phenotype references

All Mutations and Alleles

8
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

4
Targeted

2
Genomic Mutations

1 involving Isca2
Find Mice (IMSR)

4 strains or lines available

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All GO Annotations

22
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

597
cDNA Data

44

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase isca2

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All Sequences

55
RefSeq

8
UniProt

5
CCDS

CCDS49111.1

Ensembl

ENSMUSG00000021241 (Evidence)
NCBI Gene

74316

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021241	Ensembl Gene Model \| MGI Sequence Detail	1838	C57BL/6J	± kb
transcript	ENSMUST00000021667	Ensembl \| MGI Sequence Detail	883	Not Applicable
polypeptide	ENSMUSP00000021667	Ensembl \| MGI Sequence Detail	154	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000009112 iron-sulfur cluster assembly 2, mitochondrial

(term hierarchy)
InterPro Domains

IPR000361 Core domain, A-type assembly protein ATAP

IPR016092 FeS A-type assembly protein ATAP

IPR017870 FeS cluster insertion, C-terminal, conserved site

IPR035903 HesB-like domain superfamily

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All nucleic 45

Genomic 1

cDNA 44

Microarray probesets 3

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MGI:1924380

Summaries

All 36

Gene Ontology 8

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:250557 Beilschmidt LK, et al., ISCA1 is essential for mitochondrial Fe4S4 biogenesis in vivo. Nat Commun. 2017 May 11;8:15124

TSS for Isca2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114359	Chr12:84820025-84820035 (+)	5 bp
Tssr114360	Chr12:84820036-84820093 (+)	40 bp
Tssr114361	Chr12:84820095-84820109 (+)	77 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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