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 have ATP binding activity and hydrolase activity, acting on acid anhydrides. Involved in several processes, including animal organ development; nervous system development; and rRNA transcription. Predicted to localize to nucleus. 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. Is expressed in several structures, including central nervous system; digestive system; gonad; musculature system; and somite. 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

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 72 figures from 16 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
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	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
UniProtKB:F1QGL1 InterPro	3140

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	chd7-201 (1) Ensembl	Ensembl	7281 nt	Select Tool ZFIN BLAST
mRNA	chd7-202 (1) Ensembl	Havana	515 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	chd7-203 (1) Ensembl	Havana	10963 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	chd7-003 (1) Ensembl	Havana	494 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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