Gene

chd7

ID

ZDB-GENE-070912-179

Name

chromodomain helicase DNA binding protein 7

Symbol

chd7 Nomenclature History

Previous Names

si:ch211-197o6.2 (1)
wu:cegs2051 (1)
wu:fb37f10 (1)
wu:fb39h04 (1)
wu:fd19h06 (1)

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity. Involved in myelination and neuron development. Acts upstream of or within several processes, including embryonic organ development; mesenchymal cell differentiation; and nervous system development. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including central nervous system; digestive system; gonad; musculature system; and somite. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in CHARGE syndrome; hypogonadotropic hypogonadism 5 with or without anosmia; and idiopathic scoliosis. Orthologous to human CHD7 (chromodomain helicase DNA binding protein 7).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

17 figures from 9 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 77 figures from 17 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With chd7 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
CHARGE syndrome	Alliance	CHARGE syndrome	214800
hypogonadotropic hypogonadism 5 with or without anosmia	Alliance	Hypogonadotropic hypogonadism 5 with or without anosmia	612370

Associated With chd7 Via Experimental Models

Human Disease	Fish	Conditions	Citations
CHARGE syndrome	zf15Tg + MO8-chd7	standard conditions	Asad et al., 2016
CHARGE syndrome	AB + MO1-chd7	standard conditions	(2)
CHARGE syndrome	zdf8Tg + MO2-chd7	standard conditions	Liu et al., 2018
CHARGE syndrome	w47Tg + MO8-chd7	standard conditions	Asad et al., 2016
CHARGE syndrome	WT + MO2-chd7	standard conditions	Balasubramanian et al., 2014
CHARGE syndrome	chd7^sr5/sr5	standard conditions	Sun et al., 2022
CHARGE syndrome	chd7^sr5/sr5	standard conditions	Sun et al., 2022
CHARGE syndrome	TU + MO5-chd7	standard conditions	Cloney et al., 2018
CHARGE syndrome	ba2Tg + MO3-chd7	standard conditions	Asad et al., 2016
CHARGE syndrome	chd7^hsi3/hsi3	standard conditions	(2)
CHARGE syndrome	TU + MO3-chd7	standard conditions	(2)
CHARGE syndrome	ba2Tg + MO8-chd7	standard conditions	Asad et al., 2016
CHARGE syndrome	TU + MO8-chd7	standard conditions	Asad et al., 2016
CHARGE syndrome	hkz04tTg + MO2-chd7	standard conditions	Liu et al., 2018
CHARGE syndrome	chd7^{rdu1002/rdu1002} (AB)	standard conditions	Hodorovich et al., 2023
CHARGE syndrome	chd7^{sa19732/sa19732}	standard conditions	Krueger et al., 2022
CHARGE syndrome	chd7^{sa19732/sa19732}	standard conditions	Krueger et al., 2022
CHARGE syndrome	nz50Tg + MO2-chd7	standard conditions	Liu et al., 2018
CHARGE syndrome	chd7^{sa19732/sa19732}	standard conditions	Krueger et al., 2022
CHARGE syndrome	hkz04tTg; nz50Tg + MO2-chd7	standard conditions	Liu et al., 2018
CHARGE syndrome	chd7^{ncu101/ncu101} (TL)	standard conditions	Hodorovich et al., 2023
CHARGE syndrome	chd7^{ck004a/ck004a}	standard conditions	(2)
CHARGE syndrome	chd7^ncu101/+ (TL)	standard conditions	Hodorovich et al., 2023
CHARGE syndrome	chd7^ck004a/+	control	Liu et al., 2019
CHARGE syndrome	chd7^hsi3/hsi3	standard conditions	Cloney et al., 2018
CHARGE syndrome	chd7^ah517/ah517 (AB)	standard conditions	Shi et al., 2023
CHARGE syndrome	zf148Tg + MO8-chd7	standard conditions	Asad et al., 2016
CHARGE syndrome	TU + MO3-chd7 + MO8-chd7	standard conditions	Asad et al., 2019
CHARGE syndrome	zf148Tg + MO3-chd7 + MO8-chd7	standard conditions	Asad et al., 2019
CHARGE syndrome	AB + MO2-chd7	standard conditions	(2)

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000330	SNF2, N-terminal
Domain	IPR000953	Chromo/chromo shadow domain
Domain	IPR001650	Helicase, C-terminal domain-like
Domain	IPR006576	BRK domain
Domain	IPR014001	Helicase superfamily 1/2, ATP-binding domain
Domain	IPR023780	Chromo domain
Domain	IPR049730	SNF2/RAD5-like, C-terminal helicase domain
Family	IPR051493	Chromodomain-helicase-DNA-binding
Homologous_superfamily	IPR016197	Chromo-like domain superfamily
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR037259	BRK domain superfamily
Homologous_superfamily	IPR038718	SNF2-like, N-terminal domain superfamily

Domain Details Per Protein

Protein	Length	BRK domain	BRK domain superfamily	Chromo/chromo shadow domain	Chromo domain	Chromodomain-helicase-DNA-binding	Chromo-like domain superfamily	Helicase, C-terminal domain-like	Helicase superfamily 1/2, ATP-binding domain	P-loop containing nucleoside triphosphate hydrolase	SNF2-like, N-terminal domain superfamily	SNF2, N-terminal	SNF2/RAD5-like, C-terminal helicase domain
UniProtKB:F1QGL1 InterPro	3140

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	chd7-201 (1) Ensembl	Ensembl	7,281 nt	Select Tool ZFIN BLAST
mRNA	chd7-202 (1) Ensembl	Ensembl	515 nt	Select Tool ZFIN BLAST
mRNA	chd7-203 (1) Ensembl	Ensembl	10,963 nt	Select Tool ZFIN BLAST
ncRNA	chd7-003 (1) Ensembl	Ensembl	494 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-chd7	polyclonal	chd7	IgG	Rabbit	IHC	Boster Biological	2
Ab1-chd7	polyclonal	chd7	IgG	Rabbit		Santa Cruz Biotechnology, Inc.	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations