CHD9 - chromodomain helicase DNA binding protein 9 Gene

Also Known as AD013; CHD-9; CReMM; KISH2; PRIC320

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80205

About CHD9

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:53,054,991-53,327,497 (from NCBI)

This gene has 21 transcripts (splice variants), 218 orthologues and 30 paralogues. Ubiquitous expression in thyroid (RPKM 7.0), ovary (RPKM 6.1) and 25 other tissues.

Summary

Predicted to enable ATP binding activity; ATP-dependent activity, acting on DNA; and DNA binding activity. Predicted to be involved in DNA duplex unwinding and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

CHD9 Products (9)

mRNA Protein Name
NM_001308319.2 NP_001295248.1 chromodomain-helicase-DNA-binding protein 9 isoform 1
NM_001352127.3 NP_001339056.1 chromodomain-helicase-DNA-binding protein 9 isoform 2
NM_001352156.3 NP_001339085.1 chromodomain-helicase-DNA-binding protein 9 isoform 3
NM_001352157.3 NP_001339086.1 chromodomain-helicase-DNA-binding protein 9 isoform 4
NM_001352158.3 NP_001339087.1 chromodomain-helicase-DNA-binding protein 9 isoform 5
NM_001382353.1 NP_001369282.1 chromodomain-helicase-DNA-binding protein 9 isoform 1
NM_001382354.1 NP_001369283.1 chromodomain-helicase-DNA-binding protein 9 isoform 6
NM_001382355.1 NP_001369284.1 chromodomain-helicase-DNA-binding protein 9 isoform 7
NM_025134.7 NP_079410.4 chromodomain-helicase-DNA-binding protein 9 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16554032 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHD9 Protein Structure

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (691 - 750)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (774 - 826)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (863 - 1150)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1217 - 1296)

BRK

BRK: BRK domain (2481 - 2522)

BRK

BRK: BRK domain (2554 - 2599)

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  • 2897 a.a.
Protein Preferred Names Protein Names

chromodomain-helicase-DNA-binding protein 9

  • ATP-dependent helicase CHD9

Related Diseases

Diseases Alias
Childhood Supratentorial Ependymoma
  • Paediatric Cerebral Ependymoma

  • Paediatric Supratentorial Ependymoblastoma

  • Paediatric Supratentorial Ependymoma

  • Pediatric Cerebral Ependymoma

  • Pediatric Supratentorial Ependymoblastoma

  • Pediatric Supratentorial Ependymoma

Charge Syndrome
  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES

Choanal Atresia, Posterior
  • Choanal Atresia

  • Atresia Of Nares

  • Posterior Choanal Atresia

  • PCA

  • Imperforate Nares

  • Choanal Fusion

  • Congenital Stenosis Of Nares

  • Congenital Stenosis Of Choanae

  • Nasal Atresia Nos

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CHD9 RGD RGD:1306795
Bos taurus CHD9 VGNC VGNC:27284
Canis familiaris CHD9 VGNC VGNC:39207
Macaca mulatta CHD9 VGNC VGNC:71101
Mus musculus CHD9 MGD MGI:1924001
Others CHD9 NCBI