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Gene: NACC2 (NACC family member 2) Homo sapiens

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Symbol:

NACC2

Name:

NACC family member 2

RGD ID:

1319559

HGNC Page

HGNC:23846

Description:

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; and protein homooligomerization. Located in chromatin; mitochondrion; and nucleolus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

BEN domain containing 9; BEND9; BTB (POZ) domain containing 14A; BTB/POZ domain-containing protein 14A; BTBD14; BTBD14A; BTBD31; MGC23427; NAC-2; NACC family member 2, BEN and BTB (POZ) domain containing; nucleus accumbens-associated protein 2; RBB; repressor with BTB domain and BEN domain; transcription repressor with a BTB domain and a BEN domain

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Nacc2 (nucleus accumbens associated 2, BEN and BTB (POZ) domain containing)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Nacc2 (NACC family member 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Nacc2 (NACC family member 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NACC2 (NACC family member 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	NACC2 (NACC family member 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nacc2 (NACC family member 2)	NCBI	Ortholog
Sus scrofa (pig):	NACC2 (NACC family member 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	NACC2 (NACC family member 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Nacc2 (NACC family member 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Nacc2 (NACC family member 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Nacc2 (nucleus accumbens associated 2, BEN and BTB (POZ) domain containing)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	nacc2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	nacc2.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	nacc2.S	Alliance	DIOPT (Xenbase)

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	9	136,006,537 - 136,095,289 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,006,537 - 136,095,289 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	138,898,383 - 138,987,135 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	138,043,023 - 138,126,952 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	136,129,149 - 136,213,076	NCBI
Celera	9	109,421,076 - 109,505,450 (-)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	108,360,255 - 108,449,736 (-)	NCBI		HuRef
CHM1_1	9	139,046,411 - 139,135,603 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	148,234,719 - 148,324,242 (-)	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

Adams-Oliver Syndrome 5 (IAGP)

autosomal dominant intellectual developmental disorder 8 (IAGP)

autosomal dominant nocturnal frontal lobe epilepsy 5 (IAGP)

developmental and epileptic encephalopathy 14 (IAGP)

Ehlers-Danlos syndrome classic type 1 (IAGP)

Joubert syndrome 1 (IAGP)

Kleefstra syndrome 1 (IAGP)

Leigh disease (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Rafiq syndrome (IAGP)

tuberous sclerosis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

alpha-pinene (EXP)

amitrole (ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

butanal (EXP)

cadmium dichloride (EXP,ISO)

choline (ISO)

clotrimazole (ISO)

cocaine (ISO)

Cuprizon (ISO)

cyclosporin A (EXP)

cylindrospermopsin (EXP)

dexamethasone (EXP)

diazinon (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

epoxiconazole (ISO)

ethanol (ISO)

fenamidone (ISO)

fenthion (ISO)

flutamide (ISO)

folic acid (ISO)

formaldehyde (EXP)

fulvestrant (EXP)

gentamycin (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

L-methionine (ISO)

leflunomide (EXP)

levonorgestrel (EXP)

menadione (EXP)

methapyrilene (ISO)

methidathion (ISO)

methimazole (ISO)

methoxychlor (ISO)

methylmercury chloride (EXP)

N-methyl-4-phenylpyridinium (EXP)

oxaliplatin (ISO)

ozone (EXP)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (EXP,ISO)

pirinixic acid (EXP)

progesterone (ISO)

propanal (EXP)

propiconazole (ISO)

quercetin (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sunitinib (EXP)

temozolomide (EXP)

testosterone undecanoate (EXP)

theophylline (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

topotecan (ISO)

triclosan (EXP)

triphenyl phosphate (EXP,ISO)

triptonide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of cell population proliferation (IDA)

negative regulation of DNA-templated transcription (IDA,ISS)

negative regulation of transcription by RNA polymerase II (IMP)

positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (IDA)

protein homooligomerization (IDA)

protein-containing complex localization (IDA)

regulation of transcription by RNA polymerase II (IBA)

Cellular Component

chromatin (IDA)

mitochondrion (IDA)

nucleolus (IDA)

nucleus (IDA,IEA,ISS)

Molecular Function

DNA binding (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IDA)

histone deacetylase binding (IPI)

protein binding (IPI)

protein homodimerization activity (IDA)

protein-containing complex binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:14702039	PMID:15164053	PMID:15489334	PMID:16341674	PMID:18976975	PMID:20379614	PMID:21873635	PMID:21988832	PMID:22926524	PMID:25609649	PMID:28611215	PMID:29117863
PMID:30232004	PMID:32814053	PMID:33961781	PMID:37033393	PMID:39256511

Genomics

Comparative Map Data

NACC2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	136,006,537 - 136,095,289 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,006,537 - 136,095,289 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	138,898,383 - 138,987,135 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	138,043,023 - 138,126,952 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	136,129,149 - 136,213,076	NCBI
Celera	9	109,421,076 - 109,505,450 (-)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	108,360,255 - 108,449,736 (-)	NCBI		HuRef
CHM1_1	9	139,046,411 - 139,135,603 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	148,234,719 - 148,324,242 (-)	NCBI		T2T-CHM13v2.0

Nacc2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	25,945,547 - 26,012,823 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	25,945,547 - 26,013,232 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	26,055,535 - 26,122,811 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	26,055,535 - 26,123,220 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	25,911,056 - 25,978,331 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	25,877,545 - 25,944,820 (-)	NCBI		MGSCv36	mm8
Celera	2	25,778,060 - 25,845,474 (-)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	18.29	NCBI

Nacc2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	29,278,077 - 29,345,098 (-)	NCBI		GRCr8
mRatBN7.2	3	8,879,952 - 8,946,660 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	8,883,065 - 8,946,660 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	11,937,224 - 12,000,522 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	20,520,445 - 20,583,748 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	18,775,758 - 18,839,059 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	3,508,084 - 3,574,787 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	3,510,041 - 3,574,787 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	8,869,877 - 8,936,580 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	4,237,814 - 4,301,608 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	4,238,197 - 4,270,534 (-)	NCBI
Celera	3	3,705,814 - 3,769,610 (-)	NCBI		Celera
Cytogenetic Map	3	p13	NCBI

Nacc2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955513	4,561,643 - 4,595,364 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	4,560,903 - 4,595,081 (+)	NCBI	ChiLan1.0	ChiLan1.0

NACC2
(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	11	3,290,798 - 3,380,006 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	3,293,135 - 3,382,340 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	107,079,113 - 107,168,332 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	136,061,365 - 136,106,911 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	136,066,229 - 136,105,176 (-)	Ensembl	panpan1.1		panPan2

NACC2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	49,323,613 - 49,393,017 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	49,363,280 - 49,389,508 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	48,578,087 - 48,645,665 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	50,204,275 - 50,271,886 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	50,204,294 - 50,271,139 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	48,984,754 - 49,047,941 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	49,279,041 - 49,346,663 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	49,362,790 - 49,394,295 (+)	NCBI		UU_Cfam_GSD_1.0

Nacc2
(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_024404947	201,671,301 - 201,704,931 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936669	1,670,423 - 1,703,781 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936669	1,670,798 - 1,703,757 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NACC2
(Sus scrofa - pig)

No map positions available.

NACC2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	2,104,649 - 2,192,283 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	2,148,312 - 2,192,432 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666058	3,017,126 - 3,106,003 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nacc2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624760	1,318,993 - 1,349,810 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624760	1,319,092 - 1,386,692 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NACC2
27 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	copy number loss	See cases [RCV000052936]	Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	copy number loss	See cases [RCV000052937]	Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]\|See cases [RCV000052938]	Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	copy number gain	See cases [RCV000053779]	Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	copy number gain	See cases [RCV000053814]	Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|See cases [RCV000053776]	Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	copy number gain	See cases [RCV000134910]	Chr9:135164984..136437047 [GRCh38] Chr9:138056830..139331499 [GRCh37] Chr9:137196651..138451320 [NCBI36] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	copy number gain	See cases [RCV000136790]	Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	copy number gain	See cases [RCV000137825]	Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	copy number gain	See cases [RCV000139807]	Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	copy number gain	See cases [RCV000142955]	Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	copy number gain	See cases [RCV000142636]	Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	copy number gain	See cases [RCV000143394]	Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3	likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	copy number gain	See cases [RCV000447080]	Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	copy number loss	See cases [RCV000446074]	Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	copy number loss	See cases [RCV000510584]	Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	copy number gain	See cases [RCV000511188]	Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	copy number loss	mTOR Inhibitor response [RCV000626442]	Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3	drug response
NM_144653.5(NACC2):c.1420G>A (p.Ala474Thr)	single nucleotide variant	not specified [RCV004294759]	Chr9:136011860 [GRCh38] Chr9:138903706 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.923G>A (p.Arg308His)	single nucleotide variant	not specified [RCV004301596]	Chr9:136016393 [GRCh38] Chr9:138908239 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1417G>T (p.Ala473Ser)	single nucleotide variant	not specified [RCV004310592]	Chr9:136011863 [GRCh38] Chr9:138903709 [GRCh37] Chr9:9q34.3	likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	copy number gain	not provided [RCV000683160]	Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1	copy number loss	not provided [RCV000748787]	Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_144653.5(NACC2):c.1224G>A (p.Pro408=)	single nucleotide variant	not provided [RCV000893610]	Chr9:136013230 [GRCh38] Chr9:138905076 [GRCh37] Chr9:9q34.3	benign
NC_000009.11:g.(?_138594085)_(140062314_?)dup	duplication	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771]	Chr9:138594085..140062314 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1206C>T (p.Ser402=)	single nucleotide variant	not provided [RCV000947219]	Chr9:136013248 [GRCh38] Chr9:138905094 [GRCh37] Chr9:9q34.3	benign
NC_000009.11:g.(?_138683633)_(139440248_?)del	deletion	Adams-Oliver syndrome 5 [RCV000793489]	Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_138683633)_(139440248_?)dup	duplication	Adams-Oliver syndrome 5 [RCV000811364]	Chr9:138683633..139440248 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_138594085)_(139440258_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV000817958]	Chr9:138594085..139440258 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_144653.5(NACC2):c.1438G>A (p.Asp480Asn)	single nucleotide variant	not specified [RCV004303124]	Chr9:136011842 [GRCh38] Chr9:138903688 [GRCh37] Chr9:9q34.3	uncertain significance
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813392]	Chr9:138557721..141138302 [GRCh37]	pathogenic
NC_000009.11:g.(?_138645763)_(140729425_?)del	deletion	Developmental and epileptic encephalopathy, 14 [RCV001362982]\|Kleefstra syndrome 1 [RCV001031921]	Chr9:138645763..140729425 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001)	copy number loss	Microcephaly [RCV001252947]	Chr9:138225001..141015001 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV001305481]\|Intellectual disability, autosomal dominant 8 [RCV001033771]	Chr9:138594085..140062314 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1453C>G (p.Pro485Ala)	single nucleotide variant	not specified [RCV004310593]	Chr9:136011827 [GRCh38] Chr9:138903673 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:138740078-141020389)	copy number loss	not specified [RCV002052850]	Chr9:138740078..141020389 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_137534034)_(139440238_?)dup	duplication	Adams-Oliver syndrome 5 [RCV003120731]\|Ehlers-Danlos syndrome, classic type, 1 [RCV001872736]	Chr9:137534034..139440238 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_135139626)_(140034216_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV003111109]\|Leigh syndrome [RCV003122287]\|Rafiq syndrome [RCV003122286]\|Tuberous sclerosis 1 [RCV003111108]	Chr9:135139626..140034216 [GRCh37] Chr9:9q34.13-34.3	uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	Adams-Oliver syndrome 5 [RCV003119767]\|Developmental and epileptic encephalopathy, 14 [RCV003109684]\|Familial aplasia of the vermis [RCV003119768]	Chr9:138392557..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup	duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700]	Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup	duplication	Kleefstra syndrome 1 [RCV003122719]	Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:138929784-139252520)x3	copy number gain	not provided [RCV002474960]	Chr9:138929784..139252520 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1718C>T (p.Ala573Val)	single nucleotide variant	not specified [RCV004085421]	Chr9:136011562 [GRCh38] Chr9:138903408 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1505A>C (p.Asp502Ala)	single nucleotide variant	not specified [RCV004231029]	Chr9:136011775 [GRCh38] Chr9:138903621 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1246G>A (p.Ala416Thr)	single nucleotide variant	not specified [RCV004141175]	Chr9:136013208 [GRCh38] Chr9:138905054 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.890A>G (p.Gln297Arg)	single nucleotide variant	not specified [RCV004110641]	Chr9:136016426 [GRCh38] Chr9:138908272 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1582G>A (p.Ala528Thr)	single nucleotide variant	not specified [RCV004197453]	Chr9:136011698 [GRCh38] Chr9:138903544 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	copy number loss	See cases [RCV002640756]	Chr9:134962336..137240181 [GRCh38] Chr9:9q34.3	pathogenic
NM_144653.5(NACC2):c.1016A>C (p.Glu339Ala)	single nucleotide variant	not specified [RCV004143974]	Chr9:136016300 [GRCh38] Chr9:138908146 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1742G>A (p.Gly581Asp)	single nucleotide variant	not specified [RCV004166647]	Chr9:136011538 [GRCh38] Chr9:138903384 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1519G>A (p.Val507Met)	single nucleotide variant	not specified [RCV004078775]	Chr9:136011761 [GRCh38] Chr9:138903607 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1621G>A (p.Glu541Lys)	single nucleotide variant	not specified [RCV004185585]	Chr9:136011659 [GRCh38] Chr9:138903505 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.970C>T (p.Leu324Phe)	single nucleotide variant	not specified [RCV004119119]	Chr9:136016346 [GRCh38] Chr9:138908192 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1423G>A (p.Ala475Thr)	single nucleotide variant	not specified [RCV004223481]	Chr9:136011857 [GRCh38] Chr9:138903703 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.944G>A (p.Arg315His)	single nucleotide variant	not specified [RCV004329664]	Chr9:136016372 [GRCh38] Chr9:138908218 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1474G>A (p.Glu492Lys)	single nucleotide variant	not specified [RCV004358928]	Chr9:136011806 [GRCh38] Chr9:138903652 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1405G>C (p.Val469Leu)	single nucleotide variant	not specified [RCV004341523]	Chr9:136011875 [GRCh38] Chr9:138903721 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	copy number gain	not provided [RCV003484786]	Chr9:136988996..141020389 [GRCh37] Chr9:9q34.2-34.3	pathogenic
NM_144653.5(NACC2):c.1408A>G (p.Met470Val)	single nucleotide variant	not specified [RCV004465918]	Chr9:136011872 [GRCh38] Chr9:138903718 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1564G>A (p.Ala522Thr)	single nucleotide variant	not specified [RCV004465954]	Chr9:136011716 [GRCh38] Chr9:138903562 [GRCh37] Chr9:9q34.3	likely benign
NM_144653.5(NACC2):c.1610C>T (p.Ser537Leu)	single nucleotide variant	not specified [RCV004465960]	Chr9:136011670 [GRCh38] Chr9:138903516 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1552C>G (p.Leu518Val)	single nucleotide variant	not specified [RCV004465949]	Chr9:136011728 [GRCh38] Chr9:138903574 [GRCh37] Chr9:9q34.3	uncertain significance
NM_144653.5(NACC2):c.1540G>A (p.Val514Met)	single nucleotide variant	not specified [RCV004465943]	Chr9:136011740 [GRCh38] Chr9:138903586 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:134642187-138121999)	copy number loss	Kleefstra syndrome 1 [RCV004720503]	Chr9:134642187..138121999 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	copy number loss	Kleefstra syndrome 1 [RCV004720515]	Chr9:134288333..138155727 [GRCh38] Chr9:9q34.2-34.3	pathogenic
NC_000009.11:g.(?_131678355)_(140095163_?)dup	duplication	not provided [RCV004582063]	Chr9:131678355..140095163 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:135969078-138104469)	copy number loss	Kleefstra syndrome 1 [RCV004720472]	Chr9:135969078..138104469 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135791488-138262981)	copy number loss	Kleefstra syndrome 1 [RCV004720522]	Chr9:135791488..138262981 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	copy number loss	Kleefstra syndrome 1 [RCV004720477]	Chr9:137590213..138052188 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	copy number loss	Kleefstra syndrome 1 [RCV004720478]	Chr9:137590213..137817525 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720481]	Chr9:137552409..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	copy number loss	Kleefstra syndrome 1 [RCV004720482]	Chr9:137552409..138052113 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135204722-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720508]	Chr9:135204722..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135008333-138199729)	copy number loss	Kleefstra syndrome 1 [RCV004720511]	Chr9:135008333..138199729 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135182209-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720473]	Chr9:135182209..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720480]	Chr9:136926151..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	copy number loss	Kleefstra syndrome 1 [RCV004720485]	Chr9:137552082..137728529 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135203306-138100471)	copy number loss	Kleefstra syndrome 1 [RCV004720521]	Chr9:135203306..138100471 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136032451-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720514]	Chr9:136032451..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135954288-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720483]	Chr9:135954288..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	copy number loss	Kleefstra syndrome 1 [RCV004720487]	Chr9:137552409..137879159 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135338745-138124196)	copy number loss	Kleefstra syndrome 1 [RCV004720539]	Chr9:135338745..138124196 [GRCh38] Chr9:9q34.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3138
Count of miRNA genes:	1141
Interacting mature miRNAs:	1463
Transcripts:	ENST00000277554, ENST00000371753, ENST00000467669
Prediction methods:	Miranda, Rnahybrid, Targetscan
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
596965797	GWAS1085316_H	phosphate measurement, diet measurement QTL GWAS1085316 (human)		0.000006	blood phosphate amount (VT:0001565)	food intake measurement (CMO:0000772)	9	136011789	136011790	Human
597319656	GWAS1415730_H	QRS duration QTL GWAS1415730 (human)		3e-08	QRS duration	QRS duration (CMO:0000267)	9	136010929	136010930	Human
597328984	GWAS1425058_H	medical procedure QTL GWAS1425058 (human)		2e-08	medical procedure		9	136022923	136022924	Human
597154992	GWAS1251066_H	phosphate measurement, diet measurement QTL GWAS1251066 (human)		0.000007	blood phosphate amount (VT:0001565)	food intake measurement (CMO:0000772)	9	136011789	136011790	Human
596965006	GWAS1084525_H	phosphate measurement, diet measurement QTL GWAS1084525 (human)		0.000007	blood phosphate amount (VT:0001565)	food intake measurement (CMO:0000772)	9	136011789	136011790	Human
597150652	GWAS1246726_H	phosphate measurement, diet measurement QTL GWAS1246726 (human)		0.000006	blood phosphate amount (VT:0001565)	food intake measurement (CMO:0000772)	9	136011789	136011790	Human
597218342	GWAS1314416_H	COVID-19 QTL GWAS1314416 (human)		0.000008	COVID-19		9	136051021	136051022	Human
597062856	GWAS1158930_H	Sjogren syndrome QTL GWAS1158930 (human)		0.000005	Sjogren syndrome		9	136055321	136055322	Human

Markers in Region

RH104119

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	138,907,712 - 138,907,897	UniSTS	GRCh37
Build 36	9	138,047,533 - 138,047,718	RGD	NCBI36
Celera	9	109,425,587 - 109,425,772	RGD
Cytogenetic Map	9	q34.3	UniSTS
HuRef	9	108,369,671 - 108,369,856	UniSTS
GeneMap99-GB4 RH Map	9	417.72	UniSTS

SHGC-148734

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	138,939,602 - 138,939,872	UniSTS	GRCh37
GRCh37	1	223,740,097 - 223,740,367	UniSTS	GRCh37
Build 36	1	221,806,720 - 221,806,990	RGD	NCBI36
Celera	9	109,457,442 - 109,457,712	RGD
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
HuRef	9	108,401,715 - 108,401,985	UniSTS
TNG Radiation Hybrid Map	9	53466.0	UniSTS

SHGC-57330

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	138,898,514 - 138,898,629	UniSTS	GRCh37
Build 36	9	138,038,335 - 138,038,450	RGD	NCBI36
Celera	9	109,416,388 - 109,416,503	RGD
Cytogenetic Map	9	q34.3	UniSTS
HuRef	9	108,360,386 - 108,360,501	UniSTS
TNG Radiation Hybrid Map	9	53421.0	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2246	4971	1726	2350	6	624	1900	465	2270	7261	6428	53	3729	1	852	1744	1615	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_144653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK055078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL355574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL591038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015649	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC045702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM791117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000277554 ⟹ ENSP00000277554

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,006,537 - 136,095,289 (-)	Ensembl

Ensembl Acc Id:

ENST00000371753 ⟹ ENSP00000360818

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,006,537 - 136,050,580 (-)	Ensembl

Ensembl Acc Id:

ENST00000467669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	136,016,291 - 136,019,480 (-)	Ensembl

RefSeq Acc Id:

NM_144653 ⟹ NP_653254

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,006,537 - 136,095,289 (-)	NCBI
GRCh37	9	138,898,383 - 138,987,131 (-)	ENTREZGENE
GRCh37	9	138,898,383 - 138,987,131 (-)	NCBI
Build 36	9	138,043,023 - 138,126,952 (-)	NCBI Archive
Celera	9	109,421,076 - 109,505,450 (-)	RGD
HuRef	9	108,360,255 - 108,449,736 (-)	NCBI
CHM1_1	9	139,046,411 - 139,135,603 (-)	NCBI
T2T-CHM13v2.0	9	148,234,719 - 148,324,242 (-)	NCBI

Sequence:

show sequence

GGAGAAAGTCCATGGGAGCCGGAGCGCCGGGACGCCAAGCACTTCCTGCCGCGGGCGGCGCGCC
GCAGCTGCCCAGGCCGGACCGGGCCGGGCGCCCGCAGATGAGCCCCGCTAGGGCCGCCCCGCGC
TGAGAGCCCAGCCCCGCCGCTGCCCGCCCGCCATGTCTCAGATGCTGCACATCGAGATCCCCAA
CTTCGGGAACACAGTGCTGGGCTGCCTGAACGAGCAGCGCCTGCTGGGCCTCTACTGCGATGTG
TCCATCGTGGTCAAGGGCCAGGCCTTCAAGGCCCACCGGGCGGTGCTGGCCGCCAGCAGCCTCT
ACTTCCGCGACCTGTTCAGCGGCAACAGCAAGAGCGCCTTCGAGCTGCCCGGCTCCGTGCCGCC
CGCCTGCTTCCAGCAGATCCTGTCCTTCTGCTACACGGGCAGGCTCACCATGACGGCCAGCGAG
CAGCTCGTGGTCATGTACACGGCCGGCTTCCTGCAGATCCAGCACATCGTGGAGCGCGGCACCG
ACCTCATGTTCAAGGTGAGCTCGCCCCACTGCGACTCGCAGACCGCTGTGATCGAGGACGCCGG
CTCCGAGCCCCAGAGCCCCTGCAACCAGCTGCAGCCGGCCGCCGCCGCCGCGGCCCCCTACGTC
GTGTCCCCCTCGGTGCCCATCCCGCTGCTGACCCGAGTAAAGCATGAAGCCATGGAGCTGCCGC
CGGCCGGCCCAGGCCTGGCCCCCAAGCGCCCGCTGGAGACGGGGCCCCGGGACGGCGTGGCGGT
GGCCGCGGGGGCTGCGGTGGCGGCGGGCACAGCCCCTCTCAAACTGCCCCGTGTCTCCTACTAC
GGGGTGCCCAGCCTGGCCACCCTCATCCCCGGCATCCAGCAGATGCCCTACCCCCAGGGGGAGC
GGACCAGTCCAGGCGCCAGCAGCCTGCCCACCACCGACAGCCCCACCTCGTACCACAACGAGGA
GGACGAGGAGGACGACGAGGCCTACGACACCATGGTGGAGGAGCAGTACGGCCAGATGTACATC
AAGGCCTCCGGCAGCTATGCAGTGCAAGAGAAGCCTGAGCCAGTGCCGCTGGAGAGCCGCTCCT
GCGTCCTCATCCGCCGCGACCTCGTGGCCCTACCTGCCAGCCTCATCAGCCAGATCGGATACCG
CTGCCATCCCAAGCTCTACTCGGAAGGGGACCCCGGGGAGAAGCTGGAGCTGGTGGCAGGCTCT
GGGGTCTACATCACACGCGGCCAGCTGATGAACTGCCACCTGTGTGCAGGGGTGAAGCATAAGG
TCTTGCTGCGGAGGCTCCTGGCCACCTTCTTTGACAGGAACACGCTGGCCAACAGCTGCGGGAC
TGGCATCCGCTCGTCCACCAGCGACCCCAGCCGGAAGCCGCTGGACAGCCGGGTCCTGAACGCT
GTGAAATTGTACTGTCAGAACTTCGCCCCCAGCTTCAAGGAGAGCGAGATGAACGTGATCGCCG
CGGACATGTGCACCAACGCCCGCCGCGTTCGCAAGCGCTGGCTGCCCAAGATCAAGTCCATGCT
GCCGGAGGGCGTGGAGATGTACCGCACGGTCATGGGCTCCGCCGCCGCCAGCGTGCCCCTCGAC
CCCGAGTTCCCGCCTGCCGCGGCACAGGTGTTCGAGCAACGCATCTACGCCGAGCGGCGGGGCG
ACGCCGCCACCATCGTGGCTCTGAGAACTGACGCCGTGAATGTTGACCTGAGTGCCGCCGCCAA
CCCCGCCTTCGACGCCGGCGAGGAGGTGGACGGGGCTGGCTCGGTCATCCAGGAGGTGGCCGCC
CCCGAGCCGCTGCCCGCCGATGGCCAGAGCCCCCCACAGCCCTTTGAGCAGGGCGGGGGCGGCC
CCAGCAGGCCCCAGACGCCGGCGGCCGCGGCCCGGAGGCCGGAGGGCACCTATGCAGGGACCTT
GTAAGCGGAGCTGGGTGGCTGCGCGAGGGACCGAGTACTAGAGCTGCTTGCATGCGTTACTAAT
ACAAACAAATGTGATCAAGCCACTTACCTACTGAACTGCTACTGTTGCCTGAGAAAAATGTGAT
TTTTATTCTGCTTGTATTTAAAATTGATGAAGGAAACAAATGCATTCATTATACTGTAAACAAT
TAGGCCACTGGCAGCCTCCTGCGAGGAAGTTCCCAGGGCTCCCTTTTGATATTCACAAGGTCAG
CCTCCAAGTGTAGCTTCCCTCCCCCTTCTTGGGGAGGGTGGGAGGCCGCCAGGCCCCTGGTGCC
CAGCCCTGCCCCTTCCTCCCTGCCCTTCCTGCTCCTCCTGCCCGGAAGACGAAGCAGGGGCCGG
CGGTGGTCTGTGGCGAGGGGGCTGGGCTGTGCGTCACTGACCCTTCCTTCCTTCCCCATGGAAC
CTCTCTGGGGCGACGGGGCAGGGCTCAGGCTCCAGGGCCTAACTCCTCGTTTTTCCTTCTTTCG
GAGACTCGGGGCCAGGCCCACCGGGCCTTCCACCTGTGTGGGGTGTGTGCACGAGTGTGTGTGT
GTGCGTGTGTGTGCAGGGGTGTGGTGAGGGGGCAGTGATGGCTGTGGCCCACCCCTCGGGGTGG
AGAAAAGGGTACTTTACTCTGCCCCCACACCCTGTCCTTGTTCTGCCCGATCCGTCTCGGCTCT
GCAGCCCCTCGGTCCCCTGACCCCCAGGGCACCGCTGACCCCGCCTGGCCTCCCACTGTCCCGC
CCGGGCCCACTGTGGGACGTGCACAGCTGATGTAGCACACGCTGCCCTCTGCCGCCTCAGCCAC
TTTGGGATTATGCTTGTCTTGTTTTTTTTAGGTTTTGTTGTAATTTAGATCTATTTCATATATG
GTTTGGAAACTTTCAGACTCAATAGAACAAAAACTTTGGGTGGGATGGGTGTCCCTGTCCCCAG
CCCACCATGGCTTGGGGTGGGTCATCTGTGGCCGTTAGGGTGCGTCCCCCTGCTCCCCCGCCCA
GGGCCAGGGACCACTCGTCTCCCACTGGGGGAAAAAGGGGGTCCCGGGTGGGCGACTAGTACGT
GTGAAGCTGAGCTCAGGGCCGGACCTGGGGAGCGGGGGACTCCGCTCGGGCAGGAGGCAGCGGC
CAGGGCTGGGCCAGGGCGAGAGTCGGTCCTCCCGGTGCTGGGCTCCCCGTCTGCCTTGAGGGGT
GTGCATGGATGGAGGGTGCCTGAGGCTGCAGGCAGGGGATGACCGGGACAGGCCTGGGCTGGGG
CAGTTGGAGGTATGGGCACTGGTAGGGGACAGAGGGTTAGGGATCATGTTGGGGGGCCAGGGAC
AGTGGAGGAAGGGCCCATGGAAGATGGGGCTGTTTGGTTTGAGGCTGGAGTGCTTCCTTTGAAA
TTTAATTACTGTTTTTTAAGTGGTAGGGCTCACAGACTGTGTGAAGTCCTGTGTGAAGTGCTGG
TGTGGCCACCTACCCAGGTGTCCCTCCCTTTTGTTTTGGAGGCCTGTGTCCTTGTCCAGGGGCA
GCCCTCCTTCCCAGGTGTGGCCAGAAGAACCCCCCATCCCAAGACTTGAAATGTCTGTTGCTCA
CCTCTGTCCCTCCAGAACTCGGCTTCCCCATCTTCACTTGCAAAACAAGTGCAGCCCTGCGCCC
ATCAGCACCCCCTCCGGTGTGCACACAGGCCAGTGAGCGGTGGCCGACCAGCGCACCCCACTCC
CCCAACCTCCACAACCCATCAAGCGGAGGCCGCCTCCGCTAGGGGAGGACCATGTGCTGCACCC
TGGCCTGGGGACCTACAGGGTGTGGGTTAGACGCATTCCCACTGGGCGGCTCCTTTCTGCCCCG
AAGCCCACCCCTGTGGCGAGGCCCTAGGAGACCTCCCGTGGGGCCGCCTCTACAGACAGCACTC
AGCCTCCTGGGCTGCCTCCAGCCAGGCCCAGCACATGCCTGCCCTCCAGAAAAATACGTTGCTT
TCCAGAAGGAGGTGGGGGACCATGGGCAGGCACTGTGGACGCTAACCTCGGCCCCTCCACCCAT
TCCTCAGGGCCCACGTCCAGGGGGACCAAGACCTGCATTCCTAGGGCTGCAGGTGGCTCAGTGG
TGCAGAGGCATCCAGACCTTCTGCTGAACTAAGAACCACCCAGCCTAGAGGGAGCCTTTCTCTG
CCTCTTCCTCCCCTGTCTTGGGCACAGGTGGGGTTGGAGCCCCCATGGGGCCCGCTGGGAACCT
GGACCAAGCCTTCCTCGGAGATGGGAGGAAGCCGCGGGGTGGAGCAGGGGCAGGTAGGTGAGGT
TGAGCTGCACTTGAGTTCCCTCTGGAGTTTCCTTCATCTGCCCCACACCCAAATTTGCACTTTA
ATTTGACCATCCCTGGGGGCCTGGCTGCTGACAGAAGGGCTCTCTCTGCCCTCCACTCCAAAGT
GGGTGCCCCCCCACCCTTGGCCAGGACAGGGAGGGAGCCGCTGGCTGCTGCCGGAGGTGGTGGC
TGCACAGAGGACGCCTGACTGCTGTTCAGGCCCGCACAATGTCCCGTGCCCCTTCCTCACTCGT
TTGTAATCGCCGTCTGTTTTGTTCTGGGTAAGGAAGGCAAGAGCTATAGATAAAACTTAAATAA
TAATAATTTAATGTGAATGGGTTCTGAGCTCTCCCTGCGCCCCGGGCGGGCCAGGCCGAGCATT
TTGCACTAATGTGTCCCACGGTGGGCGTGAGTCGGGAGTGTCTGTGGACGTGCGTGGCTGCTGA
GCGGACCTGCTGTGTGCTCCCTCCACGTCCTGAATGTACCGTGGGGCGGGGGCGGCGGCCCGGG
CTCAGAGGGGCCTTCCAGAGTGCCTTAGCATCCTTTGATCATTTTTCCCAAGGAAACCAATTAA
GAAAGCCGGACCCTTCCCTCCTTTGTTTACAAGATGACTAATTCTAGAATCCGGGGTTGTCCTG
TCCTGTGAGTGTGACCCTGACTCATCCAGACCCTGTAGAGAGAGACGAGCCACTCAGTATTTAT
GAGATGTCTGCACCTTTATCCCTAAGCCTGACTATTAGCAATACGCATATCCTATATAGAATCT
ATTACAGAGCTACGTTATCTCCACACCTTTTGAGGAGGACAGAAGGGACTGGACCGTGTTGGAG
CTGCCGCCTGGCAGGTGGTGGGCCTGGGATCTAGCCGCCTCTCCTGCCCTGCCTTCCTCTTCCC
CAAGGGGATGGGCCCAGGAGGCAGCTGGGTTGCATGGAGAGGTCCAGGAGGGACCGGAGGTGTG
ACAGATACTGTGAGCCCGGCGGGCCGCGCCTGGCTGGGTGCCTCGGTACTTGAATTCTGTCTTG
TTTTCCGCATTGTGTCTGTCCACCCGAGTTCTCTGTCGTCACTTAACTTTGCATTGGATTTGGT
TGTTGTACTTTGCCCCTGAATGTGGACAAAGCTGTGGGCAAGAGGTCAGCAGGACCCGCCTGGG
GGTGCCGGCGTTGGTGACTGCGGGTCGGGGCTCCTAGAACATAGGAGCCGGCTGCCTGGCCTCC
TTTCTCCTCCAGGAAGAGTCATTCTTTGGCATTTGTGTTTAGAGCCAGGAGGAAGGCGGAAGGT
AGGGAGGGAGGGCTGGTCCCCCTCTGAGGGGGCTCTAGTGCCTGACCCTGACCTGTCCTCATTC
GACAGCTGAAACTGTTAAGCGCTGGCCCAGTCCCCCCACCCCACCCAGCCGTGTACTGCCTGGG
CTCCCCTCAAAGGGAAATTTTTATGGAAACATCTTGGCAGCAAGTGGAAAAAGATCTATGGCCC
ATGAACCAACTGAAAACTCCAAGAACCCTCTGTCTGCCTCTGCCAGCAGCGAGTCCTAAGCGCA
GAATCCAGAGCTCGTAGCTGTCCTCAGCTGTAACTACTGTTTCAGAATGTTGCTGCTGCATACT
TTTGTCATGTCAGCCAGCCAGCTCCGTGGGTGAGAGTGTGCGTGTGCGCGTGTCTGTGTGTGTG
TGCGTGTCTGTGTGTGCACGTCTGTGCGTCTGTGTGTGCGCGTCTGTGCATGTGTGTGTCTGTG
CGTGTGTGCGTCTGTGTGTGTGCGTCTGTGTGCGCGTGTGTGTGCGCGTCTGTGTGTATGTGTG
CACGCGCGTCTGTGTGCACGTGCGTGTCTCTGCACGCGTGTCTGTGTATGTGTGCACGCGTGTG
TCTGTGTGTGTGCACGCGCGTGCACGTCACCACCGGAGCATTTAGGGTTTGGTACAAGATGGTT
CTAAAATGGCAAAGGTTTTTCGTGTTTGTTTGTTTTGTTTCTTTGGAAAAAGAAAAGGAAAGGA
AAATCATGCAGAATCGCAAGCATTCAGACTGGACGACCGGCTCGTATTCCGATCAGTCGCTTCC
ATTGTTAGCATCGTACACGATTGTGATTTTTATGTCAAAAGAAGCCAAAACTTGCAATACTATT
TTTAGCAGACAAAAAAAAGAACTAAGTATAAAATGTATAAATATTTTTGACTTGAAGATTTGGA
TGGCACTGGGTGCAAGTAGAGCATCCATCCTTCGGATGGAATGTTTGGAAAAAAGAGACTTTTA
AAAAGGAGACGGTTGTTTTAAAGAGTCTGTTTAGGGGTTAAAGTACTGTAACTCACGACTGTTA
AAAAATAAATTTTCCTGTGCTGTAAAGGAAGGTTTCACAGTACCACTGAGTTAGATTTCAGCCA
CAGATGCTTAGCTTTTTTTTTTTGTCTTTTTTTTAAGGAGGAAGCCTTTGTTTTGTTTTCCTGA
GCCCTCACTCTGTTTTTGTGCTGTTACTCGGTAGAGTCAAGACTGTTACTTTTTAGCCATGGCT
GACATTGTATCAATAACTAAAACTGAAACATTCAAAAGCGAACAGGGAAACCGAGGGCTTCAAG
CGTGCTCAGAGCCGTTTCAGACAGTGGAAATCCATGACAAACAAAAGGATGTGATCATTAATTG
TAAAGCGCTTTGTAAAATTCACATTTACAAAATAATAAAGTCAGTTCAAACCTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_653254	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH15649	(Get FASTA)	NCBI Sequence Viewer
	EAW88193	(Get FASTA)	NCBI Sequence Viewer
	EAW88194	(Get FASTA)	NCBI Sequence Viewer
	EAW88195	(Get FASTA)	NCBI Sequence Viewer
	EAW88196	(Get FASTA)	NCBI Sequence Viewer
	EAW88197	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000277554
	ENSP00000277554.2
	ENSP00000360818.1
GenBank Protein	Q96BF6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_653254 ⟸ NM_144653

- UniProtKB:

Q96BF6 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSQMLHIEIPNFGNTVLGCLNEQRLLGLYCDVSIVVKGQAFKAHRAVLAASSLYFRDLFSGNSK
SAFELPGSVPPACFQQILSFCYTGRLTMTASEQLVVMYTAGFLQIQHIVERGTDLMFKVSSPHC
DSQTAVIEDAGSEPQSPCNQLQPAAAAAAPYVVSPSVPIPLLTRVKHEAMELPPAGPGLAPKRP
LETGPRDGVAVAAGAAVAAGTAPLKLPRVSYYGVPSLATLIPGIQQMPYPQGERTSPGASSLPT
TDSPTSYHNEEDEEDDEAYDTMVEEQYGQMYIKASGSYAVQEKPEPVPLESRSCVLIRRDLVAL
PASLISQIGYRCHPKLYSEGDPGEKLELVAGSGVYITRGQLMNCHLCAGVKHKVLLRRLLATFF
DRNTLANSCGTGIRSSTSDPSRKPLDSRVLNAVKLYCQNFAPSFKESEMNVIAADMCTNARRVR
KRWLPKIKSMLPEGVEMYRTVMGSAAASVPLDPEFPPAAAQVFEQRIYAERRGDAATIVALRTD
AVNVDLSAAANPAFDAGEEVDGAGSVIQEVAAPEPLPADGQSPPQPFEQGGGGPSRPQTPAAAA
RRPEGTYAGTL

hide sequence

Ensembl Acc Id:

ENSP00000360818 ⟸ ENST00000371753

Ensembl Acc Id:

ENSP00000277554 ⟸ ENST00000277554

Protein Domains

BEN BTB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96BF6-F1-model_v2	AlphaFold	Q96BF6	1-587	view protein structure

Promoters

RGD ID:

7216629

Promoter ID:

EPDNEW_H14057

Type:

initiation region

Name:

NACC2_2

Description:

NACC family member 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14058

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,051,468 - 136,051,528	EPDNEW

RGD ID:

7216623

Promoter ID:

EPDNEW_H14058

Type:

initiation region

Name:

NACC2_1

Description:

NACC family member 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14057

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	136,095,286 - 136,095,346	EPDNEW

RGD ID:

6807890

Promoter ID:

HG_KWN:65567

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_144653, UC010NBH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	138,126,806 - 138,127,762 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23846	AgrOrtholog
COSMIC	NACC2	COSMIC
Ensembl Genes	ENSG00000148411	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000277554	ENTREZGENE
	ENST00000277554.4	UniProtKB/Swiss-Prot
	ENST00000371753.5	UniProtKB/Swiss-Prot
Gene3D-CATH	BEN domain	UniProtKB/Swiss-Prot
	Potassium Channel Kv1.1, Chain A	UniProtKB/Swiss-Prot
GTEx	ENSG00000148411	GTEx
HGNC ID	HGNC:23846	ENTREZGENE
Human Proteome Map	NACC2	Human Proteome Map
InterPro	BEN_domain	UniProtKB/Swiss-Prot
	BTB/POZ_dom	UniProtKB/Swiss-Prot
	SKP1/BTB/POZ_sf	UniProtKB/Swiss-Prot
	ZnFinger_BTB_dom_contain	UniProtKB/Swiss-Prot
KEGG Report	hsa:138151	UniProtKB/Swiss-Prot
NCBI Gene	138151	ENTREZGENE
OMIM	615786	OMIM
PANTHER	AGAP004733-PA	UniProtKB/Swiss-Prot
	NUCLEUS ACCUMBENS-ASSOCIATED PROTEIN 2	UniProtKB/Swiss-Prot
Pfam	BEN	UniProtKB/Swiss-Prot
	BTB	UniProtKB/Swiss-Prot
PharmGKB	PA164723421	PharmGKB
PROSITE	BEN	UniProtKB/Swiss-Prot
	BTB	UniProtKB/Swiss-Prot
SMART	BEN	UniProtKB/Swiss-Prot
	BTB	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54695	UniProtKB/Swiss-Prot
UniProt	NACC2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	NACC2	NACC family member 2		NACC family member 2, BEN and BTB (POZ) domain containing	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