Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23397
Gene name	Non-SMC condensin I complex subunit H
Gene symbol	NCAPH
Synonyms (NCBI Gene)	BRRN1CAP-HCAPHMCPH23NCAPH1
Chromosome	2
Chromosome location	2q11.2
Summary	This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitot

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1553446603	C>T	Pathogenic	Coding sequence variant, missense variant

132

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016393	hsa-miR-193b-3p	Microarray	20304954
MIRT024329	hsa-miR-215-5p	Microarray	19074876
MIRT026338	hsa-miR-192-5p	Microarray	19074876
MIRT049342	hsa-miR-92a-3p	CLASH	23622248
MIRT041751	hsa-miR-484	CLASH	23622248
MIRT041751	hsa-miR-484	CLASH	23622248
MIRT041751	hsa-miR-484	CLASH	23622248
MIRT573284	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT573283	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT573282	hsa-miR-3126-5p	PAR-CLIP	20371350
MIRT573281	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT573279	hsa-miR-4419a	PAR-CLIP	20371350
MIRT573280	hsa-miR-4510	PAR-CLIP	20371350
MIRT573278	hsa-miR-6127	PAR-CLIP	20371350
MIRT573277	hsa-miR-6129	PAR-CLIP	20371350
MIRT573276	hsa-miR-6130	PAR-CLIP	20371350
MIRT573275	hsa-miR-6133	PAR-CLIP	20371350
MIRT573274	hsa-miR-4434	PAR-CLIP	20371350
MIRT573273	hsa-miR-4516	PAR-CLIP	20371350
MIRT573272	hsa-miR-5703	PAR-CLIP	20371350
MIRT573270	hsa-miR-4266	PAR-CLIP	20371350
MIRT573271	hsa-miR-6834-5p	PAR-CLIP	20371350
MIRT573284	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT573283	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT573282	hsa-miR-3126-5p	PAR-CLIP	20371350
MIRT573281	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT573279	hsa-miR-4419a	PAR-CLIP	20371350
MIRT573280	hsa-miR-4510	PAR-CLIP	20371350
MIRT573278	hsa-miR-6127	PAR-CLIP	20371350
MIRT573277	hsa-miR-6129	PAR-CLIP	20371350
MIRT573276	hsa-miR-6130	PAR-CLIP	20371350
MIRT573275	hsa-miR-6133	PAR-CLIP	20371350
MIRT573274	hsa-miR-4434	PAR-CLIP	20371350
MIRT573273	hsa-miR-4516	PAR-CLIP	20371350
MIRT573272	hsa-miR-5703	PAR-CLIP	20371350
MIRT573270	hsa-miR-4266	PAR-CLIP	20371350
MIRT573271	hsa-miR-6834-5p	PAR-CLIP	20371350
MIRT1175892	hsa-miR-1179	CLIP-seq
MIRT1175893	hsa-miR-1224-3p	CLIP-seq
MIRT1175894	hsa-miR-1237	CLIP-seq
MIRT1175895	hsa-miR-1246	CLIP-seq
MIRT1175896	hsa-miR-1252	CLIP-seq
MIRT1175897	hsa-miR-1260	CLIP-seq
MIRT1175898	hsa-miR-1260b	CLIP-seq
MIRT1175899	hsa-miR-1272	CLIP-seq
MIRT1175900	hsa-miR-1276	CLIP-seq
MIRT1175901	hsa-miR-1280	CLIP-seq
MIRT1175902	hsa-miR-1322	CLIP-seq
MIRT1175903	hsa-miR-298	CLIP-seq
MIRT1175904	hsa-miR-3065-5p	CLIP-seq
MIRT1175905	hsa-miR-31	CLIP-seq
MIRT1175906	hsa-miR-3125	CLIP-seq
MIRT1175907	hsa-miR-3154	CLIP-seq
MIRT1175908	hsa-miR-3171	CLIP-seq
MIRT1175909	hsa-miR-3177-5p	CLIP-seq
MIRT1175910	hsa-miR-3614-3p	CLIP-seq
MIRT1175911	hsa-miR-3653	CLIP-seq
MIRT1175912	hsa-miR-3658	CLIP-seq
MIRT1175913	hsa-miR-3916	CLIP-seq
MIRT1175914	hsa-miR-3924	CLIP-seq
MIRT1175915	hsa-miR-3928	CLIP-seq
MIRT1175916	hsa-miR-4303	CLIP-seq
MIRT1175917	hsa-miR-4438	CLIP-seq
MIRT1175918	hsa-miR-4477a	CLIP-seq
MIRT1175919	hsa-miR-4682	CLIP-seq
MIRT1175920	hsa-miR-4729	CLIP-seq
MIRT1175921	hsa-miR-4733-5p	CLIP-seq
MIRT1175922	hsa-miR-4795-3p	CLIP-seq
MIRT1175923	hsa-miR-4802-3p	CLIP-seq
MIRT1175924	hsa-miR-490-5p	CLIP-seq
MIRT1175925	hsa-miR-495	CLIP-seq
MIRT1175926	hsa-miR-5095	CLIP-seq
MIRT1175927	hsa-miR-590-3p	CLIP-seq
MIRT1175928	hsa-miR-595	CLIP-seq
MIRT2050959	hsa-miR-1184	CLIP-seq
MIRT1175894	hsa-miR-1237	CLIP-seq
MIRT1175896	hsa-miR-1252	CLIP-seq
MIRT1175899	hsa-miR-1272	CLIP-seq
MIRT1175902	hsa-miR-1322	CLIP-seq
MIRT2050960	hsa-miR-1343	CLIP-seq
MIRT2050961	hsa-miR-1972	CLIP-seq
MIRT2050962	hsa-miR-3168	CLIP-seq
MIRT2050963	hsa-miR-371-5p	CLIP-seq
MIRT2050964	hsa-miR-380	CLIP-seq
MIRT2050965	hsa-miR-3934	CLIP-seq
MIRT2050966	hsa-miR-4265	CLIP-seq
MIRT2050967	hsa-miR-4277	CLIP-seq
MIRT2050968	hsa-miR-4296	CLIP-seq
MIRT1175916	hsa-miR-4303	CLIP-seq
MIRT2050969	hsa-miR-4322	CLIP-seq
MIRT2050970	hsa-miR-4417	CLIP-seq
MIRT2050971	hsa-miR-4418	CLIP-seq
MIRT1175917	hsa-miR-4438	CLIP-seq
MIRT2050972	hsa-miR-4641	CLIP-seq
MIRT2050973	hsa-miR-4650-5p	CLIP-seq
MIRT1175919	hsa-miR-4682	CLIP-seq
MIRT2050974	hsa-miR-4757-5p	CLIP-seq
MIRT2050975	hsa-miR-509-3-5p	CLIP-seq
MIRT1175926	hsa-miR-5095	CLIP-seq
MIRT2050976	hsa-miR-509-5p	CLIP-seq
MIRT2050977	hsa-miR-552	CLIP-seq
MIRT2050959	hsa-miR-1184	CLIP-seq
MIRT2050960	hsa-miR-1343	CLIP-seq
MIRT2280035	hsa-miR-140-3p	CLIP-seq
MIRT2280036	hsa-miR-181a	CLIP-seq
MIRT2280037	hsa-miR-181b	CLIP-seq
MIRT2280038	hsa-miR-181c	CLIP-seq
MIRT2280039	hsa-miR-181d	CLIP-seq
MIRT2280040	hsa-miR-3127-5p	CLIP-seq
MIRT2050963	hsa-miR-371-5p	CLIP-seq
MIRT2280041	hsa-miR-378g	CLIP-seq
MIRT2280042	hsa-miR-3918	CLIP-seq
MIRT2280043	hsa-miR-4262	CLIP-seq
MIRT2050971	hsa-miR-4418	CLIP-seq
MIRT2280044	hsa-miR-4437	CLIP-seq
MIRT2280045	hsa-miR-4674	CLIP-seq
MIRT2050975	hsa-miR-509-3-5p	CLIP-seq
MIRT2050976	hsa-miR-509-5p	CLIP-seq
MIRT2280046	hsa-miR-543	CLIP-seq
MIRT2280047	hsa-miR-648	CLIP-seq
MIRT2050959	hsa-miR-1184	CLIP-seq
MIRT2050963	hsa-miR-371-5p	CLIP-seq
MIRT2050971	hsa-miR-4418	CLIP-seq
MIRT2050975	hsa-miR-509-3-5p	CLIP-seq
MIRT2050976	hsa-miR-509-5p	CLIP-seq
MIRT2465693	hsa-miR-2964a-5p	CLIP-seq
MIRT2465694	hsa-miR-3679-3p	CLIP-seq
MIRT2465695	hsa-miR-4450	CLIP-seq
MIRT2465696	hsa-miR-4463	CLIP-seq
MIRT2465697	hsa-miR-4667-5p	CLIP-seq
MIRT2465698	hsa-miR-4700-5p	CLIP-seq
MIRT2465699	hsa-miR-4740-3p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	ISO
GO:0000796	Component	Condensin complex	IBA
GO:0000796	Component	Condensin complex	IDA	11136719
GO:0000796	Component	Condensin complex	IEA
GO:0000796	Component	Condensin complex	NAS	17268547
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	17268547, 21633354, 21730191, 24981860, 26496610, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007076	Process	Mitotic chromosome condensation	IBA
GO:0007076	Process	Mitotic chromosome condensation	IDA	11136719, 11694586
GO:0007076	Process	Mitotic chromosome condensation	IEA
GO:0007076	Process	Mitotic chromosome condensation	IMP	27737959
GO:0007143	Process	Female meiotic nuclear division	IEA
GO:0010032	Process	Meiotic chromosome condensation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030261	Process	Chromosome condensation	IEA
GO:0045132	Process	Meiotic chromosome segregation	IEA
GO:0051301	Process	Cell division	IEA
GO:0051309	Process	Female meiosis chromosome separation	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	ISO
GO:1905820	Process	Positive regulation of chromosome separation	IEA
GO:1905820	Process	Positive regulation of chromosome separation	ISO
GO:1905821	Process	Positive regulation of chromosome condensation	IDA	17268547

MIM	HGNC	e!Ensembl
602332	1112	ENSG00000121152

Q15003

Protein name

Condensin complex subunit 2 (Barren homolog protein 1) (Chromosome-associated protein H) (hCAP-H) (Non-SMC condensin I complex subunit H) (XCAP-H homolog)

Protein function

Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type

PDB

6IGX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05786	Cnd2	31 → 739	Condensin complex subunit 2	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low level. Expressed in proliferating cells. {ECO:0000269|PubMed:11694586}.

Sequence

MGPPGPALPATMNNSSSETRGHPHSASSPSERVFPMPLPRKAPLNIPGTPVLEDFPQNDD
EKERLQRRRSRVFDLQFSTDSPRLLASPSSRSIDISATIPKFTNTQITEHYSTCIKLSTE
NKITTKNAFGLHLIDFMSEILKQKDTEPTNFKVAAGTLDASTKIYAVRVDAVHADVYRVL
GGLGKDAPSLEEVEGHVADGSATEMGTTKKAVKPKKKHLHRTIEQNINNLNVSEADRKCE
IDPMFQKTAASFDECSTAGVFLSTLHCQDYRSELLFPSDVQTLSTGEPLELPELGCVEMT
DLKAPLQQCAEDRQICPSLAGFQFTQWDSETHNESVSALVDKFKKNDQVFDINAEVDESD
CGDFPDGSLGDDFDANDEPDHTAVGDHEEFRSWKEPCQVQSCQEEMISLGDGDIRTMCPL
LSMKPGEYSYFSPRTMSMWAGPDHWRFRPRRKQDAPSQSENKKKSTKKDFEIDFEDDIDF
DVYFRKTKAATILTKSTLENQNWRATTLPTDFNYNVDTLVQLHLKPGTRLLKMAQGHRVE
TEHYEEIEDYDYNNPNDTSNFCPGLQAADSDDEDLDDLFVGPVGNSDLSPYPCHPPKTAQ
QNGDTPEAQGLDITTYGESNLVAEPQKVNKIEIHYAKTAKKMDMKKLKQSMWSLLTALSG
KEADAEANHREAGKEAALAEVADEKMLSGLTKDLQRSLPPVMAQNLSIPLAFACLLHLAN
EKNLKLEGTEDLSDVLVRQGD

Sequence length

741

Interactions

View interactions

	Reactome
			Condensation of Prometaphase Chromosomes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly 23, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs865866339, rs1553446603	RCV003989377 RCV000627671	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NCAPH-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	34768935, 36650758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28824723, 29693178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28300828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28300828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31784646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35676807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31523845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31784646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31186803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28300828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17611626	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	27737959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	27737959		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29693178, 34399777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31784646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31784646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31186803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36650758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NCAPH (non-SMC condensin I complex subunit H)