Hacd2 MGI Mouse Gene Detail - MGI:1918007 - 3-hydroxyacyl-CoA dehydratase 2

Symbol

Hacd2
Name

3-hydroxyacyl-CoA dehydratase 2
Synonyms

6330408J20Rik, Ptplb

Feature Type

protein coding gene
IDs

MGI:1918007
NCBI Gene: 70757
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr16:34842798-34929547 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 24.54 cM
Mapping Data

2 experiments

SNPs within 2kb

1783 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918007	protein coding gene	Chr16:34842791-34929560 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022765	protein coding gene	Chr16:33310549-33401102 (+)
A/J	MGP_AJ_G0022730	protein coding gene	Chr16:31697385-31784471 (+)
AKR/J	MGP_AKRJ_G0022703	protein coding gene	Chr16:32809502-32898334 (+)
BALB/cJ	MGP_BALBcJ_G0022732	protein coding gene	Chr16:31827715-31914556 (+)
C3H/HeJ	MGP_C3HHeJ_G0022497	protein coding gene	Chr16:32947963-33037111 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023181	protein coding gene	Chr16:34029193-34119290 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020699	protein coding gene	Chr16:32052881-32142632 (+)
CAST/EiJ	MGP_CASTEiJ_G0022025	protein coding gene	Chr16:33153047-33243972 (+)
CBA/J	MGP_CBAJ_G0022467	protein coding gene	Chr16:35413187-35521103 (+)
DBA/2J	MGP_DBA2J_G0022600	protein coding gene	Chr16:31530001-31617029 (+)
FVB/NJ	MGP_FVBNJ_G0022575	protein coding gene	Chr16:31511607-31608998 (+)
LP/J	MGP_LPJ_G0022667	protein coding gene	Chr16:33020884-33128027 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022594	protein coding gene	Chr16:34725448-34816228 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023193	protein coding gene	Chr16:32846842-32937112 (+)
PWK/PhJ	MGP_PWKPhJ_G0021766	protein coding gene	Chr16:31917990-32008225 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021597	protein coding gene	Chr16:32662981-32754378 (+)
WSB/EiJ	MGP_WSBEiJ_G0022069	protein coding gene	Chr16:32793768-32883155 (+)

Human Ortholog

HACD2, 3-hydroxyacyl-CoA dehydratase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HACD2, 3-hydroxyacyl-CoA dehydratase 2
Synonyms

PTPLB
Links

HGNC:9640

NCBI Gene ID: 201562

neXtProt AC: NX_Q6Y1H2

UniProt: Q6Y1H2
Chr Location

3q21.1

MGI Vertebrate Homology

Hacd2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HACD2
Gene Tree

Hacd2

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Phenotype Summary

46 phenotypes from 4 alleles in 3 genetic backgrounds
10 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Endonuclease-mediated

2
Gene trapped

10
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a knock-out allele die around E9.5 and show developmental arrest, cardiovascular defects, altered mitochondrial function and structure, and accumulation of oxidized cardiolipin. Homozygotes for a hypomorphic allele die within 1-4 weeks of life from sudden growth arrest followed by cachexia and lethargy, and show hypoglycemia, hyperlactatemia, and impaired mitochondrial efficiency in the kidney and liver.

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All GO Annotations

19
GO References

4

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

802
Tissues

95
cDNA Data

13
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hacd2

ZFIN hacd2

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All Sequences

48
RefSeq

8
UniProt

1
CCDS

CCDS37321.1

Ensembl

ENSMUSG00000035376 (Evidence)
NCBI Gene

70757

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035376	Ensembl Gene Model \| MGI Sequence Detail	86750	C57BL/6J	± kb
transcript	ENSMUST00000061156	Ensembl \| MGI Sequence Detail	3598	Not Applicable
polypeptide	ENSMUSP00000060462	Ensembl \| MGI Sequence Detail	254	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000013446 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2

(term hierarchy)
EC

4.2.1.134
InterPro Domains

IPR007482 Protein-tyrosine phosphatase-like, PTPLA
GlyGen

Q9D3B1 2 sites, 1 O-linked glycan (1 site)

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All nucleic 14

cDNA 13

Primer pair 1

Microarray probesets 5

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MGI:2145964, MGI:2146447

Summaries

All 37

Developmental Gene Expression 3

Gene Ontology 4

Phenotypes 10
Earliest

J:60250 Uwanogho DA, et al., Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene. Genomics. 1999 Dec 15;62(3):406-16
Latest

J:333944 Khadhraoui N, et al., Hacd2 deficiency in mice leads to an early and lethal mitochondrial disease. Mol Metab. 2023 Mar;69:101677

TSS for Hacd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr138201	Chr16:34842764-34842810 (+)	-11 bp
Tssr138202	Chr16:34842820-34842849 (+)	37 bp
Tssr138203	Chr16:34843829-34843831 (+)	1,032 bp
Tssr138204	Chr16:34845978-34846013 (+)	3,198 bp
Tssr138205	Chr16:34846016-34846037 (+)	3,229 bp
Tssr138206	Chr16:34883391-34883396 (+)	40,596 bp
Tssr138207	Chr16:34888891-34888896 (+)	46,096 bp
Tssr138208	Chr16:34888905-34888919 (+)	46,114 bp
Tssr138209	Chr16:34888927-34888951 (+)	46,141 bp
Tssr138210	Chr16:34888953-34888972 (+)	46,165 bp
Tssr138211	Chr16:34914139-34914143 (+)	71,343 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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