Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26038
Gene name Gene Name - the full gene name approved by the HGNC.
Chromodomain helicase DNA binding protein 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHD5
Synonyms (NCBI Gene) Gene synonyms aliases
CHD-5, PMNDS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PMNDS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040349 hsa-miR-615-3p CLASH 23622248
MIRT037503 hsa-miR-744-5p CLASH 23622248
MIRT889177 hsa-miR-1184 CLIP-seq
MIRT889178 hsa-miR-1197 CLIP-seq
MIRT889179 hsa-miR-1205 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000792 Component Heterochromatin ISS
GO:0003677 Function DNA binding IEA
GO:0003678 Function DNA helicase activity IEA
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IDA 21931736
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610771 16816 ENSG00000116254
Protein
UniProt ID Q8TDI0
Protein name Chromodomain-helicase-DNA-binding protein 5 (CHD-5) (EC 3.6.4.-) (ATP-dependent helicase CHD5)
Protein function ATP-dependent chromatin-remodeling factor that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Acts as a component of th
PDB 6GUU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08073 CHDNT 147 200 CHDNT (NUC034) domain Domain
PF00628 PHD 345 390 PHD-finger Domain
PF00628 PHD 418 463 PHD-finger Domain
PF00385 Chromo 592 644 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF00176 SNF2_N 685 999 SNF2 family N-terminal domain Family
PF00271 Helicase_C 1024 1138 Helicase conserved C-terminal domain Family
PF06465 DUF1087 1297 1358 Domain of Unknown Function (DUF1087) Domain
PF06461 DUF1086 1388 1529 Domain of Unknown Function (DUF1086) Domain
PF08074 CHDCT2 1732 1858 CHDCT2 (NUC038) domain Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland and detected in testis. {ECO:0000269|PubMed:12592387, ECO:0000269|PubMed:21931736}.
Sequence
MRGPVGTEEELPRLFAEEMENEDEMSEEEDGGLEAFDDFFPVEPVSLPKKKKPKKLKENK
CKGKRKKKEGSNDELSENEEDLEEKSESEGSDYSPNKKKKKKLKDKKEKKAKRKKKDEDE
DDNDDGCLKEPKSSGQLMAEWGLDDVDYLFSEEDYHTLTNYKAFSQFLRPLIAKKNPKIP
MSKMMTVLGAKWREFSANNP
FKGSSAAAAAAAVAAAVETVTISPPLAVSPPQVPQPVPIR
KAKTKEGKGPGVRKKIKGSKDGKKKGKGKKTAGLKFRFGGISNKRKKGSSSEEDEREESD
FDSASIHSASVRSECSAALGKKSKRRRKKKRIDDGDGYETDHQDYCEVCQQGGEIILCDT
CPRAYHLVCLDPELEKAPEGKWSCPHCEKE
GIQWEPKDDDDEEEEGGCEEEEDDHMEFCR
VCKDGGELLCCDACPSSYHLHCLNPPLPEIPNGEWLCPRCTCP
PLKGKVQRILHWRWTEP
PAPFMVGLPGPDVEPSLPPPKPLEGIPEREFFVKWAGLSYWHCSWVKELQLELYHTVMYR
NYQRKNDMDEPPPFDYGSGDEDGKSEKRKNKDPLYAKMEERFYRYGIKPEWMMIHRILNH
SFDKKGDVHYLIKWKDLPYDQCTWEIDDIDIPYYDNLKQAYWGH
RELMLGEDTRLPKRLL
KKGKKLRDDKQEKPPDTPIVDPTVKFDKQPWYIDSTGGTLHPYQLEGLNWLRFSWAQGTD
TILADEMGLGKTVQTIVFLYSLYKEGHSKGPYLVSAPLSTIINWEREFEMWAPDFYVVTY
TGDKESRSVIRENEFSFEDNAIRSGKKVFRMKKEVQIKFHVLLTSYELITIDQAILGSIE
WACLVVDEAHRLKNNQSKFFRVLNSYKIDYKLLLTGTPLQNNLEELFHLLNFLTPERFNN
LEGFLEEFADISKEDQIKKLHDLLGPHMLRRLKADVFKNMPAKTELIVRVELSQMQKKYY
KFILTRNFEALNSKGGGNQVSLLNIMMDLKKCCNHPYLF
PVAAVEAPVLPNGSYDGSSLV
KSSGKLMLLQKMLKKLRDEGHRVLIFSQMTKMLDLLEDFLEYEGYKYERIDGGITGGLRQ
EAIDRFNAPGAQQFCFLLSTRAGGLGINLATADTVIIYDSDWNPHNDIQAFSRAHRIG
QN
KKVMIYRFVTRASVEERITQVAKRKMMLTHLVVRPGLGSKSGSMTKQELDDILKFGTEEL
FKDDVEGMMSQGQRPVTPIPDVQSSKGGNLAASAKKKHGSTPPGDNKDVEDSSVIHYDDA
AISKLLDRNQDATDDTELQNMNEYLSSFKVAQYVVREEDGVEEVEREIIKQEENVDPDYW
EKLLRHHYEQQQEDLARNLGKGKRIRKQVNYNDASQED
QEWQDELSDNQSEYSIGSEDED
EDFEERPEGQSGRRQSRRQLKSDRDKPLPPLLARVGGNIEVLGFNARQRKAFLNAIMRWG
MPPQDAFNSHWLVRDLRGKSEKEFRAYVSLFMRHLCEPGADGAETFADGVPREGLSRQHV
LTRIGVMSLVRKKVQEFEHVNGKYSTPDL
IPEGPEGKKSGEVISSDPNTPVPASPAHLLP
APLGLPDKMEAQLGYMDEKDPGAQKPRQPLEVQALPAALDRVESEDKHESPASKERAREE
RPEETEKAPPSPEQLPREEVLPEKEKILDKLELSLIHSRGDSSELRPDDTKAEEKEPIET
QQNGDKEEDDEGKKEDKKGKFKFMFNIADGGFTELHTLWQNEERAAVSSGKIYDIWHRRH
DYWLLAGIVTHGYARWQDIQNDPRYMILNEPFKSEVHKGNYLEMKNKFLARRFKLLEQAL
VIEEQLRRAAYLNMTQDPNHPAMALNARLAEVECLAESHQHLSKESLAGNKPANAVLH
KV
LNQLEELLSDMKADVTRLPSMLSRIPPVAARLQMSERSILSRLTNRAGDPTIQQGAFGSS
QMYSNNFGPNFRGPGPGGIVNYNQMPLGPYVTDI
Sequence length 1954
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
21278247
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
21278247
Neuroblastoma Neuroblastoma rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544 26121086
Unknown
Disease term Disease name Evidence References Source
Crohn Disease Crohn Disease GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 24243398
Azoospermia Associate 33621950
Breast Neoplasms Inhibit 18698156, 22569290
Carcinogenesis Associate 24243398
Carcinoma Hepatocellular Associate 26517514, 29907144, 30043858
Carcinoma Hepatocellular Inhibit 35808817
Carcinoma Renal Cell Associate 26943038
Colorectal Neoplasms Associate 19750230
Colorectal Neoplasms Inhibit 24243398
Craniosynostoses Associate 33944996