Ncaph MGI Mouse Gene Detail - MGI:2444777 - non-SMC condensin I complex, subunit H

Symbol

Ncaph
Name

non-SMC condensin I complex, subunit H
Synonyms

A730011O11Rik, Brrn1, HCAP-H, mKIAA0074

Feature Type

protein coding gene
IDs

MGI:2444777
NCBI Gene: 215387
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr2:126945729-126975857 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.76 cM
Mapping Data

1 experiment

SNPs within 2kb

909 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444777	protein coding gene	Chr2:126945729-126975874 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026449	protein coding gene	Chr2:130356528-130391346 (-)
A/J	MGP_AJ_G0026413	protein coding gene	Chr2:125083151-125113942 (-)
AKR/J	MGP_AKRJ_G0026388	protein coding gene	Chr2:128647862-128679875 (-)
BALB/cJ	MGP_BALBcJ_G0026425	protein coding gene	Chr2:125356792-125387589 (-)
C3H/HeJ	MGP_C3HHeJ_G0026168	protein coding gene	Chr2:129164776-129195629 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026870	protein coding gene	Chr2:134466327-134498940 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024247	protein coding gene	Chr2:119782352-119813079 (-)
CAST/EiJ	MGP_CASTEiJ_G0025629	protein coding gene	Chr2:129377920-129408078 (-)
CBA/J	MGP_CBAJ_G0026148	protein coding gene	Chr2:139435102-139467556 (-)
DBA/2J	MGP_DBA2J_G0026282	protein coding gene	Chr2:124480047-124511927 (-)
FVB/NJ	MGP_FVBNJ_G0026246	protein coding gene	Chr2:123143404-123173720 (-)
LP/J	MGP_LPJ_G0026387	protein coding gene	Chr2:130608080-130642264 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026266	protein coding gene	Chr2:143483080-143515578 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026925	protein coding gene	Chr2:128680254-128710367 (-)
PWK/PhJ	MGP_PWKPhJ_G0025365	protein coding gene	Chr2:124029087-124059656 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025167	protein coding gene	Chr2:127741368-127773938 (-)
WSB/EiJ	MGP_WSBEiJ_G0025703	protein coding gene	Chr2:129571540-129600902 (-)

Human Ortholog

NCAPH, non-SMC condensin I complex subunit H

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NCAPH, non-SMC condensin I complex subunit H
Synonyms

BRRN1, CAP-H, CAPH, MCPH23, NCAPH1
Links

HGNC:1112

NCBI Gene ID: 23397

neXtProt AC: NX_Q15003

UniProt: Q15003
Chr Location

2q11.2; chr2:96335766-96377091 (+) GRCh38

MGI Vertebrate Homology

Ncaph stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NCAPH
Protein SuperFamily

Condensin_H
Gene Tree

Ncaph

Diseases

1 with human NCAPH associations

				Human Disease	Mouse Models
				primary autosomal recessive microcephaly IDs primary autosomal recessive microcephaly DOID:0070296 OMIM:PS251200 ORDO:2512

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
6 phenotypes from multigenic genotypes
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

23
Chemically induced (other)

1
Gene trapped

16
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Ncaph
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice die before E12.5.

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All GO Annotations

28
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

758
Tissues

15
cDNA Data

111
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ncaph

ZFIN ncaph

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All Sequences

49
RefSeq

2
UniProt

3
CCDS

CCDS16693.2

Ensembl

ENSMUSG00000034906 (Evidence)
NCBI Gene

215387

			Length	Strain/Species	Flank
genomic	215387	NCBI Gene Model \| MGI Sequence Detail	30129	C57BL/6J	± kb
transcript	NM_144818	RefSeq \| MGI Sequence Detail	2678	C57BL/6
polypeptide	Q8C156	UniProt \| EBI \| MGI Sequence Detail	731	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000011024 condensin complex subunit 2

(term hierarchy)
InterPro Domains

IPR022816 Condensin complex subunit 2/barren
GlyGen

Q8C156 1 site, 1 O-linked glycan (1 site)

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All nucleic 112

cDNA 112

Microarray probesets 5

Summaries

All 48

Developmental Gene Expression 5

Gene Ontology 11

Phenotypes 14
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ncaph:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr26094	Chr2:126975829-126975872 (-)	6 bp
Tssr26093	Chr2:126975804-126975828 (-)	41 bp
Tssr26092	Chr2:126966870-126966886 (-)	8,979 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24