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Gene: NANOGNB (NANOG neighbor homeobox) Homo sapiens

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Symbol:

NANOGNB

Name:

NANOG neighbor homeobox

RGD ID:

2881521

HGNC Page

HGNC:24958

Description:

Predicted to enable DNA binding activity. Predicted to be located in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

homeobox C14; homeobox protein C14

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

NANOGNBP1 NANOGNBP2 NANOGNBP3

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	7,765,216 - 7,774,121 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	7,765,216 - 7,774,121 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	7,917,812 - 7,926,717 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	7,809,149 - 7,817,714 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	9,495,913 - 9,504,806 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	7,731,452 - 7,740,348 (+)	NCBI		HuRef
CHM1_1	12	7,917,117 - 7,926,013 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	7,779,821 - 7,788,715 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

developmental and epileptic encephalopathy 21 (IAGP)

Hyperphosphatemic Familial Tumoral Calcinosis 1 (IAGP)

Klippel-Feil syndrome 3 (IAGP)

lymphoproliferative syndrome 2 (IAGP)

peroxisome biogenesis disorder 2B (IAGP)

Temtamy syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

methapyrilene (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of transcription by RNA polymerase II (NAS)

Cellular Component

nucleus (IEA)

Molecular Function

DNA binding (IEA)

DNA-binding transcription factor activity (NAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:21679462	PMID:25969425	PMID:28446706	PMID:30021884	PMID:34673265

Genomics

Comparative Map Data

NANOGNB
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	7,765,216 - 7,774,121 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	7,765,216 - 7,774,121 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	7,917,812 - 7,926,717 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	7,809,149 - 7,817,714 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	9,495,913 - 9,504,806 (+)	NCBI		Celera
Cytogenetic Map	12	p13.31	NCBI
HuRef	12	7,731,452 - 7,740,348 (+)	NCBI		HuRef
CHM1_1	12	7,917,117 - 7,926,013 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	7,779,821 - 7,788,715 (+)	NCBI		T2T-CHM13v2.0

NANOGNB
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	13,323,644 - 13,333,341 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	13,320,403 - 13,330,073 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	7,888,876 - 7,897,769 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	8,045,860 - 8,055,203 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

NANOGNB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	37,225,807 - 37,229,457 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	9,384,836 - 9,388,523 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	37,580,065 - 37,583,738 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	27	37,459,487 - 37,463,132 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	37,495,413 - 37,498,969 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	8,869,232 - 8,872,878 (-)	NCBI		UU_Cfam_GSD_1.0

Nanognb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	98,005,605 - 98,008,448 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936870	763,004 - 765,847 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NANOGNB
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	5	62,900,756 - 62,905,366 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

NANOGNB
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666063	389,150 - 401,361 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in NANOGNB
10 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1	copy number loss	See cases [RCV000052776]	Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	copy number gain	See cases [RCV000053660]	Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	copy number gain	See cases [RCV000053662]	Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1	pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]\|See cases [RCV000053664]	Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	copy number gain	See cases [RCV000053666]	Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1	pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup	duplication	Developmental and epileptic encephalopathy, 21 [RCV001325295]\|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]\|Temtamy syndrome [RCV000816630]\|not provided [RCV001859243]	Chr12:6945914..9027627 [GRCh37] Chr12:12p13.31	uncertain significance\|no classifications from unflagged records
GRCh38/hg38 12p13.31(chr12:7747398-7919345)x3	copy number gain	See cases [RCV000136854]	Chr12:7747398..7919345 [GRCh38] Chr12:7899994..8071941 [GRCh37] Chr12:7791261..7963208 [NCBI36] Chr12:12p13.31	benign
GRCh38/hg38 12p13.31(chr12:7747398-7936064)x3	copy number gain	See cases [RCV000136837]	Chr12:7747398..7936064 [GRCh38] Chr12:7899994..8088660 [GRCh37] Chr12:7791261..7979927 [NCBI36] Chr12:12p13.31	benign
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	copy number gain	See cases [RCV000136611]	Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	copy number gain	See cases [RCV000137694]	Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	copy number gain	See cases [RCV000139052]	Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	copy number gain	See cases [RCV000139787]	Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	copy number gain	See cases [RCV000141905]	Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2	pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	copy number gain	See cases [RCV000142149]	Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	copy number gain	See cases [RCV000240164]	Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p13.31(chr12:7895024-8014573)x3	copy number gain	Premature ovarian failure [RCV000225293]	Chr12:7895024..8014573 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	copy number gain	See cases [RCV000240487]	Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3	copy number gain	See cases [RCV000449191]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3	copy number gain	See cases [RCV000449287]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	See cases [RCV000447551]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3	copy number gain	See cases [RCV000446050]	Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3	copy number gain	See cases [RCV000446749]	Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	copy number gain	See cases [RCV000446017]	Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.31(chr12:7770670-8646662)x3	copy number gain	See cases [RCV000448032]	Chr12:7770670..8646662 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	copy number gain	See cases [RCV000511580]	Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1	likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	copy number gain	See cases [RCV000510853]	Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2	pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	copy number gain	See cases [RCV000510961]	Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	copy number gain	not provided [RCV000683478]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	copy number gain	not provided [RCV000683479]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	copy number gain	not provided [RCV000683480]	Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	copy number gain	not provided [RCV000683477]	Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del	deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697]	Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31	pathogenic\|not provided
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.31(chr12:7888555-8081362)x3	copy number gain	not provided [RCV000737749]	Chr12:7888555..8081362 [GRCh37] Chr12:12p13.31	benign
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3	copy number gain	not provided [RCV000750245]	Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21	pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3	copy number gain	not provided [RCV000750277]	Chr12:6911437..9381254 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	copy number gain	not provided [RCV001006470]	Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
NC_000012.11:g.(?_6945914)_(8248706_?)dup	duplication	Temtamy syndrome [RCV001031096]	Chr12:6945914..8248706 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.12:g.(?_7689858)_(8096110_?)dup	duplication	Developmental and epileptic encephalopathy, 21 [RCV001032640]	Chr12:7842454..8248706 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	copy number gain	not provided [RCV000767817]	Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	copy number gain	not provided [RCV000767818]	Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	copy number gain	not provided [RCV000767819]	Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup	duplication	Temtamy syndrome [RCV000816630]	Chr12:6945914..9027627 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:7815254-8013345)x1	copy number loss	not provided [RCV000846280]	Chr12:7815254..8013345 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	copy number gain	not provided [RCV000847209]	Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	copy number gain	not provided [RCV000846343]	Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.11:g.(?_4368352)_(9027607_?)dup	duplication	Lymphoproliferative syndrome 2 [RCV003105682]	Chr12:4368352..9027607 [GRCh37] Chr12:12p13.32-13.31	uncertain significance
GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3	copy number gain	not provided [RCV001259128]	Chr12:7755907..8436318 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	copy number gain	Obesity [RCV001801197]	Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup	duplication	not provided [RCV001970781]	Chr12:6438478..8756953 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	copy number gain	not specified [RCV002052958]	Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	copy number gain	not specified [RCV002052957]	Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NC_000012.11:g.(?_6438478)_(8248686_?)dup	duplication	Temtamy syndrome [RCV003120743]\|not provided [RCV001913769]	Chr12:6438478..8248686 [GRCh37] Chr12:12p13.31	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	copy number gain	not specified [RCV002052955]	Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1	pathogenic
NC_000012.11:g.(?_6438478)_(9027607_?)dup	duplication	not provided [RCV001943267]	Chr12:6438478..9027607 [GRCh37] Chr12:12p13.31	uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup	duplication	Peroxisome biogenesis disorder 2B [RCV001877402]	Chr12:6978008..9010204 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.464A>G (p.Lys155Arg)	single nucleotide variant	not specified [RCV004312761]	Chr12:7770467 [GRCh38] Chr12:7923063 [GRCh37] Chr12:12p13.31	uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	copy number gain	not provided [RCV002472514]	Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31	pathogenic
NM_001145465.1(NANOGNB):c.140A>T (p.Gln47Leu)	single nucleotide variant	not specified [RCV004245873]	Chr12:7770020 [GRCh38] Chr12:7922616 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.472A>G (p.Asn158Asp)	single nucleotide variant	not specified [RCV004143529]	Chr12:7770475 [GRCh38] Chr12:7923071 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.313G>A (p.Glu105Lys)	single nucleotide variant	not specified [RCV004077662]	Chr12:7770193 [GRCh38] Chr12:7922789 [GRCh37] Chr12:12p13.31	likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	copy number gain	Pallister-Killian syndrome [RCV003154827]	Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001145465.1(NANOGNB):c.47A>G (p.Glu16Gly)	single nucleotide variant	not specified [RCV004333688]	Chr12:7765332 [GRCh38] Chr12:7917928 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.68G>A (p.Arg23Gln)	single nucleotide variant	not specified [RCV004345840]	Chr12:7765353 [GRCh38] Chr12:7917949 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.383C>T (p.Thr128Ile)	single nucleotide variant	not specified [RCV004361895]	Chr12:7770263 [GRCh38] Chr12:7922859 [GRCh37] Chr12:12p13.31	uncertain significance
Single allele	duplication	not provided [RCV003448692]	Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1	pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	copy number gain	not specified [RCV003986979]	Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1	pathogenic
NM_001145465.1(NANOGNB):c.43T>C (p.Trp15Arg)	single nucleotide variant	not specified [RCV004473923]	Chr12:7765328 [GRCh38] Chr12:7917924 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.37G>A (p.Ala13Thr)	single nucleotide variant	not specified [RCV004473915]	Chr12:7765322 [GRCh38] Chr12:7917918 [GRCh37] Chr12:12p13.31	uncertain significance
NM_001145465.1(NANOGNB):c.419A>G (p.Asp140Gly)	single nucleotide variant	not specified [RCV004473917]	Chr12:7770299 [GRCh38] Chr12:7922895 [GRCh37] Chr12:12p13.31	likely benign
NC_000012.11:g.(?_7053285)_(9027607_?)del	deletion	Developmental and epileptic encephalopathy, 21 [RCV004578381]\|Peroxisome biogenesis disorder 2B [RCV004578380]	Chr12:7053285..9027607 [GRCh37] Chr12:12p13.31	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	87
Count of miRNA genes:	78
Interacting mature miRNAs:	80
Transcripts:	ENST00000382119
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

G17627

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	7,923,564 - 7,923,720	UniSTS	GRCh37
Build 36	12	7,814,831 - 7,814,987	RGD	NCBI36
Celera	12	9,501,653 - 9,501,809	RGD
Cytogenetic Map	12	p13.31	UniSTS
HuRef	12	7,737,192 - 7,737,348	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
132	266	203	147	541	170	364	3	63	298	55	342	773	688	34	333	101	593	291	16

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001145465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY151139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000382119 ⟹ ENSP00000371553

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	7,765,216 - 7,774,121 (+)	Ensembl

Ensembl Acc Id:

ENST00000640040 ⟹ ENSP00000492127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	7,766,082 - 7,774,121 (+)	Ensembl

RefSeq Acc Id:

NM_001145465 ⟹ NP_001138937

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	7,765,216 - 7,774,121 (+)	NCBI
GRCh37	12	7,917,812 - 7,926,717 (+)	RGD
Celera	12	9,495,913 - 9,504,806 (+)	RGD
HuRef	12	7,731,452 - 7,740,348 (+)	RGD
CHM1_1	12	7,917,117 - 7,926,013 (+)	NCBI
T2T-CHM13v2.0	12	7,779,821 - 7,788,715 (+)	NCBI

Sequence:

show sequence

ATCTACCTTATCTGGTCGGTCATCTCTGTAACCTCCCTACCAAGGACTAATTGGTCTTTAAAAC
TCCTCAATGCACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG
GCAGATCACGAGGTCAGGAAATCGAGACCATCTTGGCTAACAAGAAACAATCAGCTATGCCTTG
GGATCAAGATCCAGAACAATCAACTGGAAATTACAGTGAAGATGAACAAAATGGAAAGCAGAAA
TGGAGAGAAGAAGGAGAAGCAGGCAGAAAGAGAGAACGAGAAAAAGAAGAAAAAAACGAAAAGG
AGCTGCAAGATGAACAGGAAAACAAAAGGAAAAGGGAAAATGAGAAACAGAAACAGTATCCCGA
GAAAAGATTAGTCAGCAAATCCCTCATGCATACTCTCTGGGCAAAGTTTAAGTTAAACAGGTGC
CCCACTATACAAGAGAGTCTATCACTGTCATTTGAATTTGACATGACACATAAACAGATAAGTC
AATGGTTTTGTAAAACGAGGAAGAAATATAATAAAGAAATGTCCAAGAGAAAGCATAAGAAAAA
ACATATGAGATGGAGATCTCTGTGTTGCCAAGGCTGGTCTCGAACTCCTGCCCTCAAGTGATCT
TCCTATTTTGGCCTCCAGAAATGCTGTGATTACAAGCATGAGCCATCGCACTGGCTAAGACATT
TTACATGACACCATTCTCACCAATAAATGGAGTTCTGAAAGGATAAACAAGAAAACATTAACAG
TCGTTGATTCCGTGGAGTAGAACTAAATGAGGGGTATGCAAAGGAGTTTTTATGTGTTTTATTT
TTACCCTACTGTAGATTTAAAGTTTTTATAATGGATGTTAATTGATTTTATTTAAGAAAAAAAA
TCGAGTCAAGG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001138937	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAP76323	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000371553
	ENSP00000371553.1
	ENSP00000492127.1
GenBank Protein	Q7Z5D8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001138937 ⟸ NM_001145465
- UniProtKB:	Q7Z5D8 (UniProtKB/Swiss-Prot), A0A1W2PR93 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHRARWLTPVIPALWEAEAGRSRGQEIETILANKKQSAMPWDQDPEQSTGNYSEDEQNGKQKWR EEGEAGRKREREKEEKNEKELQDEQENKRKRENEKQKQYPEKRLVSKSLMHTLWAKFKLNRCPT IQESLSLSFEFDMTHKQISQWFCKTRKKYNKEMSKRKHKKKHMRWRSLCCQGWSRTPALK hide sequence

Ensembl Acc Id:

ENSP00000492127 ⟸ ENST00000640040

Ensembl Acc Id:

ENSP00000371553 ⟸ ENST00000382119

Protein Domains

Homeobox

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7Z5D8-F1-model_v2	AlphaFold	Q7Z5D8	1-188	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	NANOGNB	COSMIC
Ensembl Genes	ENSG00000205857	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000382119	ENTREZGENE
	ENST00000382119.1	UniProtKB/Swiss-Prot
	ENST00000640040.1	UniProtKB/TrEMBL
Gene3D-CATH	Homeodomain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000205857	GTEx
HGNC ID	HGNC:24958	ENTREZGENE
Human Proteome Map	NANOGNB	Human Proteome Map
InterPro	Homeobox-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Homeobox_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:360030	UniProtKB/Swiss-Prot
NCBI Gene	360030	ENTREZGENE
OMIM	620692	OMIM
Pfam	Homeodomain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165513123	PharmGKB
PROSITE	HOMEOBOX_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF46689	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A1W2PR93	ENTREZGENE, UniProtKB/TrEMBL
	NANGN_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	NANOGNB	NANOG neighbor homeobox	NANOGNB	NANOG neighbor	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar