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Gene: ADCY4 (adenylate cyclase 4) Homo sapiens

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Symbol:

ADCY4

Name:

adenylate cyclase 4

RGD ID:

736108

HGNC Page

HGNC:235

Description:

Enables protein kinase C binding activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway and cAMP biosynthetic process. Located in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AC4; adenylate cyclase type 4; adenylate cyclase type IV; adenylyl cyclase 4; ATP pyrophosphate-lyase 4

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):	Adcy4 (adenylate cyclase 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Adcy4 (adenylate cyclase 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther
Chinchilla lanigera (long-tailed chinchilla):	Adcy4 (adenylate cyclase 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ADCY4 (adenylate cyclase 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	ADCY4 (adenylate cyclase 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Adcy4 (adenylate cyclase 4)	NCBI	Ortholog
Sus scrofa (pig):	ADCY4 (adenylate cyclase 4)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ADCY4 (adenylate cyclase 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Adcy4 (adenylate cyclase 4)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Adcy6 (adenylate cyclase 6)	HGNC	OrthoMCL
Mus musculus (house mouse):	Adcy7 (adenylate cyclase 7)	HGNC	OrthoMCL
Mus musculus (house mouse):	Adcy8 (adenylate cyclase 8)	HGNC	OrthoMCL
Mus musculus (house mouse):	Adcy5 (adenylate cyclase 5)	HGNC	OrthoMCL
Mus musculus (house mouse):	Adcy2 (adenylate cyclase 2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Adcy1 (adenylate cyclase 1)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	C19h16orf87 (similar to human chromosome 16 open reading frame 87)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Adcy4 (adenylate cyclase 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Adcy4 (adenylate cyclase 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	acy-4	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Ac76E	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	adcy4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	adcy4.L	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	14	24,318,359 - 24,335,071 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	24,318,349 - 24,335,093 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	24,787,565 - 24,804,277 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	23,857,410 - 23,873,704 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	23,857,410 - 23,873,704	NCBI
Celera	14	4,652,191 - 4,668,489 (-)	NCBI		Celera
Cytogenetic Map	14	q12	NCBI
HuRef	14	4,902,443 - 4,919,171 (-)	NCBI		HuRef
CHM1_1	14	24,786,147 - 24,802,872 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	18,516,694 - 18,533,416 (-)	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

Brain-Lung-Thyroid Syndrome (IAGP)

lysinuric protein intolerance (IAGP)

Specific Granule Deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

2,2',5,5'-tetrachlorobiphenyl (EXP)

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

3,3',4,4',5-pentachlorobiphenyl (ISO)

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

4,4'-sulfonyldiphenol (EXP,ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

ammonium chloride (ISO)

amphetamine (ISO)

arsenite(3-) (EXP)

Azoxymethane (ISO)

benzo[a]pyrene (EXP)

benzo[b]fluoranthene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP,ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

chromium(6+) (ISO)

clothianidin (EXP)

dexamethasone (EXP)

dextran sulfate (ISO)

diazinon (ISO)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dichlorine (ISO)

divanadium pentaoxide (ISO)

doxorubicin (EXP)

epoxiconazole (ISO)

fenvalerate (ISO)

genistein (ISO)

indometacin (EXP)

methamphetamine (ISO)

methimazole (ISO)

methoxychlor (ISO)

mono(2-ethylhexyl) phthalate (ISO)

nitrates (ISO)

oxaliplatin (ISO)

oxybenzone (ISO)

ozone (EXP,ISO)

paracetamol (ISO)

phenobarbital (ISO)

picrotoxin (ISO)

resveratrol (ISO)

silicon dioxide (EXP)

silver atom (ISO)

silver(0) (ISO)

testosterone (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

topotecan (ISO)

triphenyl phosphate (EXP)

triticonazole (ISO)

undecane (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adenylate cyclase-activating G protein-coupled receptor signaling pathway (IBA)

adenylate cyclase-modulating G protein-coupled receptor signaling pathway (IEA,ISS)

cAMP biosynthetic process (IBA,IEA,ISO,ISS)

cyclic nucleotide biosynthetic process (IEA)

intracellular signal transduction (IEA,ISO)

Cellular Component

cytoplasm (IDA,IEA)

dendrite (IEA)

membrane (IEA,ISS)

plasma membrane (IBA,IEA,TAS)

protein-containing complex (ISO)

Molecular Function

adenylate cyclase activity (IBA,IEA,ISO,ISS)

ATP binding (IEA)

G-protein beta/gamma-subunit complex binding (ISO)

lyase activity (IEA)

metal ion binding (IEA)

nucleotide binding (IEA)

phosphorus-oxygen lyase activity (IEA)

protein binding (IPI)

protein kinase C binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

bile acid transport pathway (IEA)

dilated cardiomyopathy pathway (IEA)

endothelin signaling pathway (EXP)

G protein mediated signaling pathway via Galphas family (TAS)

glutamate signaling pathway (IEA)

gonadotropin-releasing hormone signaling pathway (IEA)

protein kinase A (PKA) signaling pathway (TAS)

purine metabolic pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies.	Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24.

Additional References at PubMed

PMID:2165385	PMID:7766992	PMID:7959689	PMID:8663304	PMID:9417641	PMID:10089566	PMID:10807185	PMID:10808179	PMID:11055432	PMID:11299302	PMID:11549699	PMID:11884542
PMID:12477932	PMID:12503609	PMID:12626323	PMID:14702039	PMID:14993377	PMID:15489334	PMID:17081159	PMID:21228062	PMID:21873635	PMID:24571439	PMID:25416956	PMID:30948266
PMID:31584294	PMID:32296183	PMID:37071682

Genomics

Comparative Map Data

ADCY4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	24,318,359 - 24,335,071 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	24,318,349 - 24,335,093 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	24,787,565 - 24,804,277 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	23,857,410 - 23,873,704 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	23,857,410 - 23,873,704	NCBI
Celera	14	4,652,191 - 4,668,489 (-)	NCBI		Celera
Cytogenetic Map	14	q12	NCBI
HuRef	14	4,902,443 - 4,919,171 (-)	NCBI		HuRef
CHM1_1	14	24,786,147 - 24,802,872 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	18,516,694 - 18,533,416 (-)	NCBI		T2T-CHM13v2.0

Adcy4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	56,006,513 - 56,021,552 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	56,006,514 - 56,021,552 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	55,769,056 - 55,784,095 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	55,769,057 - 55,784,095 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	56,387,929 - 56,402,856 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	54,723,163 - 54,738,090 (-)	NCBI		MGSCv36	mm8
Celera	14	53,574,126 - 53,589,052 (-)	NCBI		Celera
Cytogenetic Map	14	C3	NCBI
cM Map	14	28.19	NCBI

Adcy4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	33,236,201 - 33,252,070 (-)	NCBI		GRCr8
mRatBN7.2	15	29,266,280 - 29,282,153 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	29,266,287 - 29,282,108 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	31,111,969 - 31,127,788 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	32,259,179 - 32,274,998 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	30,501,528 - 30,517,347 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	34,453,917 - 34,469,779 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	34,453,915 - 34,469,746 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	38,342,429 - 38,358,268 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	33,930,531 - 33,946,352 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	33,946,233 - 33,962,015 (-)	NCBI
Celera	15	28,841,216 - 28,857,037 (-)	NCBI		Celera
Cytogenetic Map	15	p13	NCBI

Adcy4
(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_004955409	35,966,332 - 35,982,218 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955409	35,966,529 - 35,982,839 (+)	NCBI	ChiLan1.0	ChiLan1.0

ADCY4
(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	15	25,673,520 - 25,690,270 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	24,890,012 - 24,906,738 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	5,094,899 - 5,111,603 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	23,218,178 - 23,234,861 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	23,218,178 - 23,234,861 (-)	Ensembl	panpan1.1		panPan2

ADCY4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	4,288,708 - 4,304,092 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	4,288,714 - 4,304,589 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	4,210,485 - 4,226,167 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	4,399,506 - 4,415,189 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	4,399,531 - 4,415,386 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	4,089,855 - 4,105,524 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	4,151,682 - 4,167,531 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	4,414,264 - 4,429,941 (-)	NCBI		UU_Cfam_GSD_1.0

Adcy4
(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_024408640	36,158,190 - 36,175,109 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936722	213,916 - 230,906 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936722	213,916 - 230,802 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ADCY4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	74,956,220 - 74,972,196 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	74,955,410 - 74,972,440 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	80,226,295 - 80,243,376 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ADCY4
(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	24	1,301,445 - 1,318,171 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	1,301,506 - 1,316,868 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666036	12,985,965 - 13,001,961 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Adcy4
(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_004624820	8,169,816 - 8,189,168 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624820	8,170,258 - 8,186,214 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ADCY4
85 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]\|See cases [RCV000051484]	Chr14:20151149..27723796 [GRCh38] Chr14:20619308..28193002 [GRCh37] Chr14:19689148..27262842 [NCBI36] Chr14:14q11.2-12	pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	copy number loss	See cases [RCV000051485]	Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2	pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	copy number loss	See cases [RCV000051490]	Chr14:23548960..41983402 [GRCh38] Chr14:24018169..42452605 [GRCh37] Chr14:23088009..41522355 [NCBI36] Chr14:14q11.2-21.1	pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	copy number gain	See cases [RCV000053803]	Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1	pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]\|See cases [RCV000053806]	Chr14:20150949..39746154 [GRCh38] Chr14:20619108..40215358 [GRCh37] Chr14:19688948..39285109 [NCBI36] Chr14:14q11.2-21.1	pathogenic
NM_006871.3(RIPK3):c.753G>A (p.Glu251=)	single nucleotide variant	Malignant melanoma [RCV000070514]	Chr14:24337952 [GRCh38] Chr14:24807158 [GRCh37] Chr14:23876998 [NCBI36] Chr14:14q12	not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	copy number gain	See cases [RCV000137725]	Chr14:20412587..25018120 [GRCh38] Chr14:20880746..25487326 [GRCh37] Chr14:19950586..24557166 [NCBI36] Chr14:14q11.2-12	likely pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	copy number loss	See cases [RCV000142873]	Chr14:23984065..25374494 [GRCh38] Chr14:24453274..25843700 [GRCh37] Chr14:23523114..24913540 [NCBI36] Chr14:14q11.2-12	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	copy number gain	See cases [RCV000143186]	Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2	pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	copy number gain	See cases [RCV000143748]	Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3	pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	copy number gain	not provided [RCV000767822]	Chr14:19100682..28730087 [GRCh37] Chr14:14q11.2-12	pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	copy number gain	See cases [RCV000240285]	Chr14:19794561..27768254 [GRCh37] Chr14:14q11.2-12	pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3	copy number gain	See cases [RCV000447658]	Chr14:23164384..54733411 [GRCh37] Chr14:14q11.2-22.2	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	copy number gain	See cases [RCV000448273]	Chr14:19794561..34049214 [GRCh37] Chr14:14q11.2-13.1	pathogenic
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	copy number loss	See cases [RCV000510673]	Chr14:24233721..31377083 [GRCh37] Chr14:14q11.2-12	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_001198568.2(ADCY4):c.2045T>C (p.Leu682Pro)	single nucleotide variant	not specified [RCV004294693]	Chr14:24324063 [GRCh38] Chr14:24793269 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1567C>T (p.Arg523Trp)	single nucleotide variant	not specified [RCV004287911]	Chr14:24326300 [GRCh38] Chr14:24795506 [GRCh37] Chr14:14q12	uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
NM_001198568.2(ADCY4):c.1510T>C (p.Ser504Pro)	single nucleotide variant	not specified [RCV004312988]	Chr14:24329075 [GRCh38] Chr14:24798281 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.916G>C (p.Asp306His)	single nucleotide variant	not specified [RCV004299820]	Chr14:24331032 [GRCh38] Chr14:24800238 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.3082-4G>T	single nucleotide variant	not provided [RCV000954741]	Chr14:24318572 [GRCh38] Chr14:24787778 [GRCh37] Chr14:14q12	benign
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	copy number gain	not provided [RCV001249358]	Chr14:20511672..42881888 [GRCh37] Chr14:14q11.2-21.1	not provided
NM_001198568.2(ADCY4):c.886C>T (p.Leu296Phe)	single nucleotide variant	not specified [RCV004324987]	Chr14:24331062 [GRCh38] Chr14:24800268 [GRCh37] Chr14:14q12	uncertain significance
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	copy number gain	not provided [RCV001006605]	Chr14:20511672..44829030 [GRCh37] Chr14:14q11.2-21.2	pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	copy number gain	Seizure [RCV002280625]	Chr14:20511672..47481203 [GRCh37] Chr14:14q11.2-21.3	pathogenic
GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	copy number gain	not provided [RCV001259179]	Chr14:24163771..24818728 [GRCh37] Chr14:14q11.2-12	uncertain significance
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	deletion	Brain-lung-thyroid syndrome [RCV002221171]	Chr14:36986276..36987308 [GRCh37] Chr14:14q11.2-21.3	pathogenic
NC_000014.8:g.(?_23242819)_(25103366_?)dup	duplication	Lysinuric protein intolerance [RCV003105428]\|Specific granule deficiency [RCV003105427]	Chr14:23242819..25103366 [GRCh37] Chr14:14q11.2-12	uncertain significance
NM_001198568.2(ADCY4):c.1829C>T (p.Pro610Leu)	single nucleotide variant	not specified [RCV004148902]	Chr14:24324386 [GRCh38] Chr14:24793592 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.737G>A (p.Arg246Gln)	single nucleotide variant	not specified [RCV004081290]	Chr14:24331289 [GRCh38] Chr14:24800495 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.3094A>G (p.Thr1032Ala)	single nucleotide variant	not specified [RCV004164192]	Chr14:24318556 [GRCh38] Chr14:24787762 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1507A>C (p.Thr503Pro)	single nucleotide variant	not specified [RCV004215097]	Chr14:24329078 [GRCh38] Chr14:24798284 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.856G>C (p.Ala286Pro)	single nucleotide variant	not specified [RCV004102530]	Chr14:24331092 [GRCh38] Chr14:24800298 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.947G>A (p.Arg316Gln)	single nucleotide variant	not specified [RCV004141643]	Chr14:24330279 [GRCh38] Chr14:24799485 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2684G>A (p.Gly895Asp)	single nucleotide variant	not specified [RCV004154061]	Chr14:24319791 [GRCh38] Chr14:24788997 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.3211C>T (p.Pro1071Ser)	single nucleotide variant	not specified [RCV004121404]	Chr14:24318439 [GRCh38] Chr14:24787645 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1028G>A (p.Arg343His)	single nucleotide variant	not specified [RCV004209498]	Chr14:24330198 [GRCh38] Chr14:24799404 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1583G>A (p.Arg528Gln)	single nucleotide variant	not specified [RCV004190130]	Chr14:24326151 [GRCh38] Chr14:24795357 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.3135C>A (p.Ser1045Arg)	single nucleotide variant	not specified [RCV004144935]	Chr14:24318515 [GRCh38] Chr14:24787721 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2108C>T (p.Ser703Phe)	single nucleotide variant	not specified [RCV004174345]	Chr14:24323393 [GRCh38] Chr14:24792599 [GRCh37] Chr14:14q12	likely benign
NM_001198568.2(ADCY4):c.754G>A (p.Gly252Arg)	single nucleotide variant	not specified [RCV004181192]	Chr14:24331272 [GRCh38] Chr14:24800478 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.599G>C (p.Arg200Pro)	single nucleotide variant	not specified [RCV004177068]	Chr14:24331858 [GRCh38] Chr14:24801064 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2119T>C (p.Trp707Arg)	single nucleotide variant	not specified [RCV004235158]	Chr14:24323382 [GRCh38] Chr14:24792588 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2576G>A (p.Arg859Gln)	single nucleotide variant	not specified [RCV004097104]	Chr14:24322076 [GRCh38] Chr14:24791282 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2614G>A (p.Val872Ile)	single nucleotide variant	not specified [RCV004111332]	Chr14:24319861 [GRCh38] Chr14:24789067 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.410G>T (p.Gly137Val)	single nucleotide variant	not specified [RCV004143897]	Chr14:24332631 [GRCh38] Chr14:24801837 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.167C>G (p.Thr56Ser)	single nucleotide variant	not specified [RCV004155698]	Chr14:24332981 [GRCh38] Chr14:24802187 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1730G>A (p.Arg577Gln)	single nucleotide variant	not specified [RCV004093699]	Chr14:24325470 [GRCh38] Chr14:24794676 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1304A>G (p.Tyr435Cys)	single nucleotide variant	not specified [RCV004114861]	Chr14:24329447 [GRCh38] Chr14:24798653 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2297C>T (p.Ser766Leu)	single nucleotide variant	not specified [RCV004123612]	Chr14:24322949 [GRCh38] Chr14:24792155 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2876T>C (p.Met959Thr)	single nucleotide variant	not specified [RCV004155558]	Chr14:24319178 [GRCh38] Chr14:24788384 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2967T>A (p.His989Gln)	single nucleotide variant	not specified [RCV004283725]	Chr14:24318768 [GRCh38] Chr14:24787974 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2099C>G (p.Ser700Cys)	single nucleotide variant	not specified [RCV004257736]	Chr14:24323402 [GRCh38] Chr14:24792608 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.547T>C (p.Cys183Arg)	single nucleotide variant	not specified [RCV004273509]	Chr14:24331910 [GRCh38] Chr14:24801116 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1403A>G (p.Glu468Gly)	single nucleotide variant	not specified [RCV004262152]	Chr14:24329182 [GRCh38] Chr14:24798388 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.490C>A (p.Pro164Thr)	single nucleotide variant	not specified [RCV004277481]	Chr14:24332551 [GRCh38] Chr14:24801757 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1096C>T (p.Arg366Cys)	single nucleotide variant	not specified [RCV004316031]	Chr14:24329981 [GRCh38] Chr14:24799187 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1609G>A (p.Gly537Arg)	single nucleotide variant	not specified [RCV004339438]	Chr14:24326125 [GRCh38] Chr14:24795331 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1713G>C (p.Glu571Asp)	single nucleotide variant	not specified [RCV004362495]	Chr14:24325830 [GRCh38] Chr14:24795036 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2863C>A (p.His955Asn)	single nucleotide variant	not specified [RCV004353111]	Chr14:24319191 [GRCh38] Chr14:24788397 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2710G>A (p.Glu904Lys)	single nucleotide variant	not specified [RCV004361797]	Chr14:24319765 [GRCh38] Chr14:24788971 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2638C>T (p.Pro880Ser)	single nucleotide variant	not specified [RCV004341124]	Chr14:24319837 [GRCh38] Chr14:24789043 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.896A>G (p.Asn299Ser)	single nucleotide variant	not specified [RCV004363424]	Chr14:24331052 [GRCh38] Chr14:24800258 [GRCh37] Chr14:14q12	uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	copy number gain	not provided [RCV003485022]	Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1	pathogenic
GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	copy number loss	not provided [RCV003483196]	Chr14:24445622..28262222 [GRCh37] Chr14:14q11.2-12	likely pathogenic
NM_001198568.2(ADCY4):c.1404G>A (p.Glu468=)	single nucleotide variant	not provided [RCV003424996]	Chr14:24329181 [GRCh38] Chr14:24798387 [GRCh37] Chr14:14q12	likely benign
NM_001198568.2(ADCY4):c.1137C>T (p.Ile379=)	single nucleotide variant	not provided [RCV003424997]	Chr14:24329940 [GRCh38] Chr14:24799146 [GRCh37] Chr14:14q12	likely benign
NM_001198568.2(ADCY4):c.2275C>T (p.Leu759=)	single nucleotide variant	not provided [RCV003424994]	Chr14:24322971 [GRCh38] Chr14:24792177 [GRCh37] Chr14:14q12	likely benign
NM_001198568.2(ADCY4):c.1524G>A (p.Pro508=)	single nucleotide variant	not provided [RCV003424995]	Chr14:24329061 [GRCh38] Chr14:24798267 [GRCh37] Chr14:14q12	likely benign
NM_001198568.2(ADCY4):c.2084C>T (p.Ala695Val)	single nucleotide variant	not specified [RCV004371047]	Chr14:24323417 [GRCh38] Chr14:24792623 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.589C>T (p.Arg197Cys)	single nucleotide variant	not specified [RCV004371110]	Chr14:24331868 [GRCh38] Chr14:24801074 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1049G>A (p.Arg350Gln)	single nucleotide variant	not specified [RCV004370991]	Chr14:24330177 [GRCh38] Chr14:24799383 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2000G>A (p.Gly667Asp)	single nucleotide variant	not specified [RCV004371038]	Chr14:24324108 [GRCh38] Chr14:24793314 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.472C>G (p.Leu158Val)	single nucleotide variant	not specified [RCV004371107]	Chr14:24332569 [GRCh38] Chr14:24801775 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2423G>A (p.Arg808His)	single nucleotide variant	not specified [RCV004371064]	Chr14:24322628 [GRCh38] Chr14:24791834 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.721G>T (p.Ala241Ser)	single nucleotide variant	not specified [RCV004371119]	Chr14:24331305 [GRCh38] Chr14:24800511 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.732G>A (p.Met244Ile)	single nucleotide variant	not specified [RCV004371125]	Chr14:24331294 [GRCh38] Chr14:24800500 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1292A>T (p.His431Leu)	single nucleotide variant	not specified [RCV004371004]	Chr14:24329459 [GRCh38] Chr14:24798665 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2825G>A (p.Gly942Glu)	single nucleotide variant	not specified [RCV004371089]	Chr14:24319345 [GRCh38] Chr14:24788551 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1976G>A (p.Arg659Gln)	single nucleotide variant	not specified [RCV004371033]	Chr14:24324132 [GRCh38] Chr14:24793338 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2660C>T (p.Ser887Phe)	single nucleotide variant	not specified [RCV004371077]	Chr14:24319815 [GRCh38] Chr14:24789021 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2860A>G (p.Ser954Gly)	single nucleotide variant	not specified [RCV004371091]	Chr14:24319194 [GRCh38] Chr14:24788400 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.736C>T (p.Arg246Trp)	single nucleotide variant	not specified [RCV004371131]	Chr14:24331290 [GRCh38] Chr14:24800496 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.59A>G (p.Tyr20Cys)	single nucleotide variant	not specified [RCV004613301]	Chr14:24334594 [GRCh38] Chr14:24803800 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2210A>G (p.His737Arg)	single nucleotide variant	not specified [RCV004611244]	Chr14:24323036 [GRCh38] Chr14:24792242 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.469G>A (p.Gly157Arg)	single nucleotide variant	not specified [RCV004613272]	Chr14:24332572 [GRCh38] Chr14:24801778 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.3124A>C (p.Thr1042Pro)	single nucleotide variant	not specified [RCV004611254]	Chr14:24318526 [GRCh38] Chr14:24787732 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2551G>A (p.Ala851Thr)	single nucleotide variant	not specified [RCV004613256]	Chr14:24322101 [GRCh38] Chr14:24791307 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2134T>C (p.Ser712Pro)	single nucleotide variant	not specified [RCV004613291]	Chr14:24323367 [GRCh38] Chr14:24792573 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2498C>T (p.Thr833Met)	single nucleotide variant	not specified [RCV004611271]	Chr14:24322154 [GRCh38] Chr14:24791360 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1216G>C (p.Gly406Arg)	single nucleotide variant	not specified [RCV004611261]	Chr14:24329861 [GRCh38] Chr14:24799067 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2834C>T (p.Ala945Val)	single nucleotide variant	not specified [RCV004613265]	Chr14:24319336 [GRCh38] Chr14:24788542 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.32C>A (p.Pro11His)	single nucleotide variant	not specified [RCV004613280]	Chr14:24334621 [GRCh38] Chr14:24803827 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1342G>A (p.Asp448Asn)	single nucleotide variant	not specified [RCV004897167]	Chr14:24329409 [GRCh38] Chr14:24798615 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1489G>A (p.Gly497Arg)	single nucleotide variant	not specified [RCV004897225]	Chr14:24329096 [GRCh38] Chr14:24798302 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1310G>A (p.Arg437Gln)	single nucleotide variant	not specified [RCV004897156]	Chr14:24329441 [GRCh38] Chr14:24798647 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.376G>C (p.Val126Leu)	single nucleotide variant	not specified [RCV004897178]	Chr14:24332665 [GRCh38] Chr14:24801871 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1913G>A (p.Cys638Tyr)	single nucleotide variant	not specified [RCV004897180]	Chr14:24324195 [GRCh38] Chr14:24793401 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1810C>A (p.Leu604Ile)	single nucleotide variant	not specified [RCV004897181]	Chr14:24325390 [GRCh38] Chr14:24794596 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.143C>G (p.Ala48Gly)	single nucleotide variant	not specified [RCV004897184]	Chr14:24334510 [GRCh38] Chr14:24803716 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1684C>T (p.Pro562Ser)	single nucleotide variant	not specified [RCV004897193]	Chr14:24325859 [GRCh38] Chr14:24795065 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1723G>A (p.Glu575Lys)	single nucleotide variant	not specified [RCV004897204]	Chr14:24325820 [GRCh38] Chr14:24795026 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2861G>A (p.Ser954Asn)	single nucleotide variant	not specified [RCV004897179]	Chr14:24319193 [GRCh38] Chr14:24788399 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.2014C>T (p.Leu672Phe)	single nucleotide variant	not specified [RCV004897215]	Chr14:24324094 [GRCh38] Chr14:24793300 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1294C>T (p.Arg432Trp)	single nucleotide variant	not specified [RCV004905136]	Chr14:24329457 [GRCh38] Chr14:24798663 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.3212C>T (p.Pro1071Leu)	single nucleotide variant	not specified [RCV004905146]	Chr14:24318438 [GRCh38] Chr14:24787644 [GRCh37] Chr14:14q12	uncertain significance
NM_001198568.2(ADCY4):c.1582C>T (p.Arg528Trp)	single nucleotide variant	not specified [RCV004905154]	Chr14:24326152 [GRCh38] Chr14:24795358 [GRCh37] Chr14:14q12	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	8171
Count of miRNA genes:	1255
Interacting mature miRNAs:	1641
Transcripts:	ENST00000310677, ENST00000396747, ENST00000418030, ENST00000545213, ENST00000554068, ENST00000554577, ENST00000554674, ENST00000554781, ENST00000554936, ENST00000554959, ENST00000555684, ENST00000556932, ENST00000557056, ENST00000557099, ENST00000558125, ENST00000558563, ENST00000559167, ENST00000560635, ENST00000561138, ENST00000561200
Prediction methods:	Microtar, 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
597494943	GWAS1591017_H	sexual dimorphism measurement QTL GWAS1591017 (human)		4e-11	sexual dimorphism measurement		14	24322365	24322366	Human
597236795	GWAS1332869_H	appendicular lean mass QTL GWAS1332869 (human)		8e-10	appendicular lean mass		14	24325234	24325235	Human
597145589	GWAS1241663_H	Dupuytren Contracture QTL GWAS1241663 (human)		1e-08	Dupuytren Contracture		14	24327607	24327608	Human
597077173	GWAS1173247_H	necrotizing enterocolitis QTL GWAS1173247 (human)		0.0000001	necrotizing enterocolitis		14	24320104	24320105	Human
597055279	GWAS1151353_H	systolic blood pressure QTL GWAS1151353 (human)		9e-08	systolic blood pressure	systolic blood pressure (CMO:0000004)	14	24321553	24321554	Human
596977295	GWAS1096814_H	body height QTL GWAS1096814 (human)		3e-36	body height		14	24334882	24334883	Human
597201571	GWAS1297645_H	systolic blood pressure QTL GWAS1297645 (human)		0.00001	systolic blood pressure	systolic blood pressure (CMO:0000004)	14	24321553	24321554	Human
597505969	GWAS1602043_H	BMI-adjusted hip circumference QTL GWAS1602043 (human)		4e-08	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	14	24334882	24334883	Human
597201669	GWAS1297743_H	diastolic blood pressure QTL GWAS1297743 (human)		0.0000007	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	14	24321553	24321554	Human

Markers in Region

RH93999

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	24,787,597 - 24,787,749	UniSTS	GRCh37
Build 36	14	23,857,437 - 23,857,589	RGD	NCBI36
Celera	14	4,652,218 - 4,652,370	RGD
Cytogenetic Map	14	q12	UniSTS
HuRef	14	4,902,485 - 4,902,637	UniSTS
GeneMap99-GB4 RH Map	14	20.64	UniSTS

RH91896

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	24,805,243 - 24,805,368	UniSTS	GRCh37
Build 36	14	23,875,083 - 23,875,208	RGD	NCBI36
Celera	14	4,669,868 - 4,669,993	RGD
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	14	q12	UniSTS
HuRef	14	4,920,137 - 4,920,262	UniSTS
GeneMap99-GB4 RH Map	14	20.64	UniSTS

MARC_3911-3912:996679167:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	24,791,847 - 24,792,214	UniSTS	GRCh37
Build 36	14	23,861,687 - 23,862,054	RGD	NCBI36
Celera	14	4,656,469 - 4,656,836	RGD
HuRef	14	4,906,736 - 4,907,103	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	2432	2788	2241	4950	1722	2328	6	621	1879	462	2250	7232	6409	50	3731	1	846	1732	1598	173	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001198568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001198592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_139247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF086230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF088070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF497516	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122714	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK131333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL096870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX537489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000310677 ⟹ ENSP00000312126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,349 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000418030 ⟹ ENSP00000393177

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,359 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000545213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,365 - 24,330,608 (-)	Ensembl

Ensembl Acc Id:

ENST00000554068 ⟹ ENSP00000452250

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,364 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000554577

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,364 - 24,332,484 (-)	Ensembl

Ensembl Acc Id:

ENST00000554674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,330,582 - 24,332,571 (-)	Ensembl

Ensembl Acc Id:

ENST00000554781 ⟹ ENSP00000450477

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,392 - 24,334,747 (-)	Ensembl

Ensembl Acc Id:

ENST00000554936

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,322,396 - 24,323,563 (-)	Ensembl

Ensembl Acc Id:

ENST00000554959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,325,407 - 24,326,515 (-)	Ensembl

Ensembl Acc Id:

ENST00000555684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,364 - 24,319,209 (-)	Ensembl

Ensembl Acc Id:

ENST00000556932 ⟹ ENSP00000450843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,325,824 - 24,329,468 (-)	Ensembl

Ensembl Acc Id:

ENST00000557056 ⟹ ENSP00000450481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,349 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000557099

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,332,238 - 24,335,093 (-)	Ensembl

Ensembl Acc Id:

ENST00000558125

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,332,708 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000558563

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,332,659 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000559167 ⟹ ENSP00000453259

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,332,537 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000560635

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,319,306 - 24,322,363 (-)	Ensembl

Ensembl Acc Id:

ENST00000561138 ⟹ ENSP00000453893

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,332,802 - 24,335,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000561200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	24,318,925 - 24,319,779 (-)	Ensembl

RefSeq Acc Id:

NM_001198568 ⟹ NP_001185497

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	24,318,359 - 24,335,071 (-)	NCBI
GRCh37	14	24,787,555 - 24,804,277 (-)	ENTREZGENE
HuRef	14	4,902,443 - 4,919,171 (-)	ENTREZGENE
CHM1_1	14	24,786,147 - 24,802,872 (-)	NCBI
T2T-CHM13v2.0	14	18,516,694 - 18,533,416 (-)	NCBI

Sequence:

show sequence

AGAGCGCAGCGGCGAGCGTGACTCCGCCATCAGGTCCCCGGCTCCCTCCCCGGACCTAGCCCAC
TCCGCTGCGCCAGCGCCGCGGGCAGTGAGTTCGGGGATCAGGGGAACCCGGGGCTCCCTCGCAC
CAACCCCAAATCCTGCCCTCCTGGCGATGAGGCTTTTCTAGGGCACCTCTACAATCCGGGTTTG
AGGGAGGAGGAGGAAAGGACTGAGGGATCCCCTCATCGCCAGCTGGGAGCGGGCTGGGAGGCCG
CAGGGAGGGCCTGAAAAAGGAGACGGGATTGCCACGAGGTTGGGGGCGCGGGGTGGTAGCGGCT
TTGAGCGGGTGAGAAAAGCTCAGGTGGGGCCCGCCGGGCCGAAGGAGGTAACCCGGCGCCCGGC
CCTAGCCAGCCCCGGGGCTCGGGGCTGGGGAGATCATGGCCCGCCTCTTCAGCCCCCGGCCGCC
CCCCAGCGAAGACCTCTTCTACGAGACCTACTACAGCCTGAGCCAGCAGTACCCGCTGCTGCTG
CTGCTGCTGGGGATCGTGCTCTGTGCGCTCGCGGCGCTGCTCGCAGTGGCCTGGGCCAGCGGCA
GGGAGCTGACCTCAGACCCGAGCTTCCTGACCACTGTGCTGTGCGCGCTGGGCGGCTTCTCGCT
GCTGCTGGGCCTCGCTTCCCGGGAGCAGCGACTGCAGCGCTGGACGCGTCCCCTGTCCGGCTTG
GTATGGGTCGCGCTGCTAGCGCTAGGCCACGCCTTCCTGTTCACCGGGGGCGTGGTGAGCGCCT
GGGACCAGGTGTCCTATTTTCTCTTCGTCATCTTCACGGCGTATGCCATGCTGCCCTTGGGCAT
GCGGGACGCCGCCGTCGCGGGCCTCGCCTCCTCACTCTCGCATCTGCTGGTCCTCGGGCTGTAT
CTTGGGCCACAGCCGGACTCACGGCCTGCACTGCTGCCGCAGTTGGCAGCAAACGCAGTGCTGT
TCCTGTGCGGGAACGTGGCAGGAGTGTACCACAAGGCGCTGATGGAGCGCGCCCTGCGGGCCAC
GTTCCGGGAGGCACTCAGCTCCCTGCACTCACGCCGGCGGCTGGACACCGAGAAGAAGCACCAG
GAACACCTTCTCTTGTCCATCCTTCCTGCCTACCTGGCCCGAGAGATGAAGGCAGAGATCATGG
CACGGCTGCAGGCAGGACAGGGGTCACGGCCAGAGAGCACTAACAATTTCCACAGCCTCTATGT
CAAGAGGCACCAGGGAGTCAGCGTGCTGTATGCTGACATCGTGGGCTTCACGCGGCTGGCCAGC
GAGTGTTCCCCTAAGGAGCTGGTGCTCATGCTCAATGAGCTCTTTGGCAAGTTCGACCAGATTG
CCAAGGAGCATGAATGCATGCGGATCAAGATCCTGGGGGACTGTTACTACTGTGTCTCTGGGCT
GCCACTCTCACTGCCAGACCATGCCATCAACTGCGTGCGCATGGGCCTGGACATGTGCCGGGCC
ATCAGGAAACTGCGGGCAGCCACTGGCGTGGACATCAACATGCGTGTGGGCGTGCACTCAGGCA
GCGTACTGTGTGGAGTCATCGGGCTGCAGAAGTGGCAGTACGACGTTTGGTCACATGATGTCAC
ACTGGCTAACCACATGGAGGCAGGCGGTGTACCAGGGCGAGTGCACATCACAGGGGCTACCCTG
GCCCTGCTGGCAGGGGCTTATGCTGTGGAGGACGCAGGCATGGAGCATCGGGACCCCTACCTTC
GGGAGCTAGGGGAGCCTACCTATCTGGTCATCGATCCACGGGCAGAGGAGGAGGATGAGAAGGG
CACTGCAGGAGGCTTGCTGTCCTCGCTTGAGGGCCTCAAGATGCGTCCATCACTGCTGATGACC
CGTTACCTGGAGTCCTGGGGCGCAGCCAAGCCTTTTGCCCACCTGAGCCACGGAGACAGCCCTG
TGTCCACCTCCACCCCTCTCCCGGAGAAGACCCTGGCTTCCTTCAGCACCCAGTGGAGCCTGGA
TCGGAGCCGTACCCCCCGGGGACTAGATGATGAACTGGACACCGGGGATGCCAAGTTCTTCCAG
GTCATTGAGCAGCTCAACTCGCAGAAACAGTGGAAGCAGTCGAAGGACTTCAACCCACTGACAC
TGTACTTCAGAGAGAAGGAGATGGAGAAAGAGTACCGACTCTCTGCAATCCCCGCCTTCAAATA
CTATGAAGCCTGCACCTTCCTGGTTTTTCTCTCCAACTTCATCATCCAGATGCTAGTGACAAAC
AGGCCCCCAGCTCTGGCCATCACGTATAGCATCACCTTCCTCCTCTTCCTCCTCATCCTTTTTG
TCTGCTTCTCAGAGGACCTGATGAGGTGTGTCCTGAAAGGCCCCAAGATGCTGCACTGGCTGCC
TGCACTGTCTGGCCTGGTGGCCACACGACCAGGACTGAGAATAGCCTTGGGCACCGCCACCATC
CTCCTTGTCTTTGCCATGGCCATTACCAGCCTGTTCTTCTTCCCAACATCATCAGACTGCCCTT
TCCAAGCTCCCAATGTGTCCTCCATGATTTCCAACCTCTCCTGGGAGCTCCCTGGGTCTCTGCC
TCTCATCAGTGTCCCATACTCCATGCACTGCTGCACGCTGGGCTTCCTCTCCTGCTCCCTCTTT
CTGCACATGAGCTTCGAGCTGAAGCTGCTGCTGCTCCTGCTGTGGCTGGCGGCATCCTGCTCCC
TCTTCCTGCACTCCCATGCCTGGCTGTCGGAATGCCTCATCGTCCGCCTCTATCTGGGCCCCTT
GGACTCCAGGCCCGGAGTGCTGAAGGAGCCCAAACTGATGGGTGCTATCTCCTTCTTCATCTTC
TTCTTCACCCTCCTTGTCCTGGCTCGCCAGAATGAGTACTACTGCCGCCTGGACTTCCTGTGGA
AGAAGAAGCTGAGGCAGGAGAGGGAGGAGACAGAGACGATGGAGAACCTGACTCGGCTGCTCTT
GGAGAACGTGCTCCCTGCACACGTGGCCCCCCAGTTCATTGGCCAGAACCGGCGCAACGAGGAT
CTCTACCACCAGTCCTATGAATGCGTTTGTGTCCTCTTCGCCTCAGTCCCAGACTTCAAGGAGT
TCTACTCTGAATCCAACATCAATCATGAGGGCCTAGAGTGTCTGAGGCTGCTCAATGAGATAAT
TGCTGATTTTGATGAGCTGCTCTCCAAGCCCAAGTTCAGTGGGGTGGAGAAGATCAAGACCATC
GGCAGCACCTACATGGCAGCCACAGGCTTAAATGCCACCTCTGGACAGGATGCACAACAGGATG
CTGAACGGAGCTGCAGCCACCTTGGCACTATGGTGGAATTTGCCGTGGCCCTGGGGTCTAAGCT
GGACGTCATCAACAAGCATTCATTCAACAACTTCCGCCTGCGAGTGGGGTTGAACCATGGACCC
GTAGTAGCTGGAGTTATTGGGGCCCAGAAGCCGCAATATGACATTTGGGGCAACACAGTGAACG
TGGCCAGCCGCATGGAGAGTACAGGAGTCCTTGGCAAAATCCAAGTGACTGAGGAGACAGCATG
GGCCCTACAGTCCCTGGGCTACACCTGCTACAGCCGGGGTGTCATCAAGGTGAAAGGCAAAGGG
CAGCTCTGCACCTACTTCCTGAACACAGACTTGACACGAACTGGACCTCCTTCAGCTACCCTAG
GCTGAGATTGCACTCGCCTTCTAAGAACCTCAATAAAGAGACTCTGGGGTGTCTGGAGCCCA

hide sequence

RefSeq Acc Id:

NM_001198592 ⟹ NP_001185521

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	24,318,359 - 24,335,071 (-)	NCBI
GRCh37	14	24,787,555 - 24,804,277 (-)	ENTREZGENE
HuRef	14	4,902,443 - 4,919,171 (-)	ENTREZGENE
CHM1_1	14	24,786,147 - 24,802,872 (-)	NCBI
T2T-CHM13v2.0	14	18,516,694 - 18,533,416 (-)	NCBI

Sequence:

show sequence

AGAGCGCAGCGGCGAGCGTGACTCCGCCATCAGGTCCCCGGCTCCCTCCCCGGACCTAGCCCAC
TCCGCTGCGCCAGCGCCGCGGGCACCAGCCCCGGGGCTCGGGGCTGGGGAGATCATGGCCCGCC
TCTTCAGCCCCCGGCCGCCCCCCAGCGAAGACCTCTTCTACGAGACCTACTACAGCCTGAGCCA
GCAGTACCCGCTGCTGCTGCTGCTGCTGGGGATCGTGCTCTGTGCGCTCGCGGCGCTGCTCGCA
GTGGCCTGGGCCAGCGGCAGGGAGCTGACCTCAGACCCGAGCTTCCTGACCACTGTGCTGTGCG
CGCTGGGCGGCTTCTCGCTGCTGCTGGGCCTCGCTTCCCGGGAGCAGCGACTGCAGCGCTGGAC
GCGTCCCCTGTCCGGCTTGGTATGGGTCGCGCTGCTAGCGCTAGGCCACGCCTTCCTGTTCACC
GGGGGCGTGGTGAGCGCCTGGGACCAGGTGTCCTATTTTCTCTTCGTCATCTTCACGGCGTATG
CCATGCTGCCCTTGGGCATGCGGGACGCCGCCGTCGCGGGCCTCGCCTCCTCACTCTCGCATCT
GCTGGTCCTCGGGCTGTATCTTGGGCCACAGCCGGACTCACGGCCTGCACTGCTGCCGCAGTTG
GCAGCAAACGCAGTGCTGTTCCTGTGCGGGAACGTGGCAGGAGTGTACCACAAGGCGCTGATGG
AGCGCGCCCTGCGGGCCACGTTCCGGGAGGCACTCAGCTCCCTGCACTCACGCCGGCGGCTGGA
CACCGAGAAGAAGCACCAGGAACACCTTCTCTTGTCCATCCTTCCTGCCTACCTGGCCCGAGAG
ATGAAGGCAGAGATCATGGCACGGCTGCAGGCAGGACAGGGGTCACGGCCAGAGAGCACTAACA
ATTTCCACAGCCTCTATGTCAAGAGGCACCAGGGAGTCAGCGTGCTGTATGCTGACATCGTGGG
CTTCACGCGGCTGGCCAGCGAGTGTTCCCCTAAGGAGCTGGTGCTCATGCTCAATGAGCTCTTT
GGCAAGTTCGACCAGATTGCCAAGGAGCATGAATGCATGCGGATCAAGATCCTGGGGGACTGTT
ACTACTGTGTCTCTGGGCTGCCACTCTCACTGCCAGACCATGCCATCAACTGCGTGCGCATGGG
CCTGGACATGTGCCGGGCCATCAGGAAACTGCGGGCAGCCACTGGCGTGGACATCAACATGCGT
GTGGGCGTGCACTCAGGCAGCGTACTGTGTGGAGTCATCGGGCTGCAGAAGTGGCAGTACGACG
TTTGGTCACATGATGTCACACTGGCTAACCACATGGAGGCAGGCGGTGTACCAGGGCGAGTGCA
CATCACAGGGGCTACCCTGGCCCTGCTGGCAGGGGCTTATGCTGTGGAGGACGCAGGCATGGAG
CATCGGGACCCCTACCTTCGGGAGCTAGGGGAGCCTACCTATCTGGTCATCGATCCACGGGCAG
AGGAGGAGGATGAGAAGGGCACTGCAGGAGGCTTGCTGTCCTCGCTTGAGGGCCTCAAGATGCG
TCCATCACTGCTGATGACCCGTTACCTGGAGTCCTGGGGCGCAGCCAAGCCTTTTGCCCACCTG
AGCCACGGAGACAGCCCTGTGTCCACCTCCACCCCTCTCCCGGAGAAGACCCTGGCTTCCTTCA
GCACCCAGTGGAGCCTGGATCGGAGCCGTACCCCCCGGGGACTAGATGATGAACTGGACACCGG
GGATGCCAAGTTCTTCCAGGTCATTGAGCAGCTCAACTCGCAGAAACAGTGGAAGCAGTCGAAG
GACTTCAACCCACTGACACTGTACTTCAGAGAGAAGGAGATGGAGAAAGAGTACCGACTCTCTG
CAATCCCCGCCTTCAAATACTATGAAGCCTGCACCTTCCTGGTTTTTCTCTCCAACTTCATCAT
CCAGATGCTAGTGACAAACAGGCCCCCAGCTCTGGCCATCACGTATAGCATCACCTTCCTCCTC
TTCCTCCTCATCCTTTTTGTCTGCTTCTCAGAGGACCTGATGAGGTGTGTCCTGAAAGGCCCCA
AGATGCTGCACTGGCTGCCTGCACTGTCTGGCCTGGTGGCCACACGACCAGGACTGAGAATAGC
CTTGGGCACCGCCACCATCCTCCTTGTCTTTGCCATGGCCATTACCAGCCTGTTCTTCTTCCCA
ACATCATCAGACTGCCCTTTCCAAGCTCCCAATGTGTCCTCCATGATTTCCAACCTCTCCTGGG
AGCTCCCTGGGTCTCTGCCTCTCATCAGTGTCCCATACTCCATGCACTGCTGCACGCTGGGCTT
CCTCTCCTGCTCCCTCTTTCTGCACATGAGCTTCGAGCTGAAGCTGCTGCTGCTCCTGCTGTGG
CTGGCGGCATCCTGCTCCCTCTTCCTGCACTCCCATGCCTGGCTGTCGGAATGCCTCATCGTCC
GCCTCTATCTGGGCCCCTTGGACTCCAGGCCCGGAGTGCTGAAGGAGCCCAAACTGATGGGTGC
TATCTCCTTCTTCATCTTCTTCTTCACCCTCCTTGTCCTGGCTCGCCAGAATGAGTACTACTGC
CGCCTGGACTTCCTGTGGAAGAAGAAGCTGAGGCAGGAGAGGGAGGAGACAGAGACGATGGAGA
ACCTGACTCGGCTGCTCTTGGAGAACGTGCTCCCTGCACACGTGGCCCCCCAGTTCATTGGCCA
GAACCGGCGCAACGAGGATCTCTACCACCAGTCCTATGAATGCGTTTGTGTCCTCTTCGCCTCA
GTCCCAGACTTCAAGGAGTTCTACTCTGAATCCAACATCAATCATGAGGGCCTAGAGTGTCTGA
GGCTGCTCAATGAGATAATTGCTGATTTTGATGAGCTGCTCTCCAAGCCCAAGTTCAGTGGGGT
GGAGAAGATCAAGACCATCGGCAGCACCTACATGGCAGCCACAGGCTTAAATGCCACCTCTGGA
CAGGATGCACAACAGGATGCTGAACGGAGCTGCAGCCACCTTGGCACTATGGTGGAATTTGCCG
TGGCCCTGGGGTCTAAGCTGGACGTCATCAACAAGCATTCATTCAACAACTTCCGCCTGCGAGT
GGGGTTGAACCATGGACCCGTAGTAGCTGGAGTTATTGGGGCCCAGAAGCCGCAATATGACATT
TGGGGCAACACAGTGAACGTGGCCAGCCGCATGGAGAGTACAGGAGTCCTTGGCAAAATCCAAG
TGACTGAGGAGACAGCATGGGCCCTACAGTCCCTGGGCTACACCTGCTACAGCCGGGGTGTCAT
CAAGGTGAAAGGCAAAGGGCAGCTCTGCACCTACTTCCTGAACACAGACTTGACACGAACTGGA
CCTCCTTCAGCTACCCTAGGCTGAGATTGCACTCGCCTTCTAAGAACCTCAATAAAGAGACTCT
GGGGTGTCTGGAGCCCA

hide sequence

RefSeq Acc Id:

NM_139247 ⟹ NP_640340

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	24,318,359 - 24,335,071 (-)	NCBI
GRCh37	14	24,787,555 - 24,804,277 (-)	ENTREZGENE
Build 36	14	23,857,410 - 23,873,704 (-)	NCBI Archive
Celera	14	4,652,191 - 4,668,489 (-)	RGD
HuRef	14	4,902,443 - 4,919,171 (-)	ENTREZGENE
CHM1_1	14	24,786,147 - 24,802,872 (-)	NCBI
T2T-CHM13v2.0	14	18,516,694 - 18,533,416 (-)	NCBI

Sequence:

show sequence

AGAGCGCAGCGGCGAGCGTGACTCCGCCATCAGGTCCCCGGCTCCCTCCCCGGACCTAGCCCAC
TCCGCTGCGCCAGCGCCGCGGGCACCCCGGGGCTCGGGGCTGGGGAGATCATGGCCCGCCTCTT
CAGCCCCCGGCCGCCCCCCAGCGAAGACCTCTTCTACGAGACCTACTACAGCCTGAGCCAGCAG
TACCCGCTGCTGCTGCTGCTGCTGGGGATCGTGCTCTGTGCGCTCGCGGCGCTGCTCGCAGTGG
CCTGGGCCAGCGGCAGGGAGCTGACCTCAGACCCGAGCTTCCTGACCACTGTGCTGTGCGCGCT
GGGCGGCTTCTCGCTGCTGCTGGGCCTCGCTTCCCGGGAGCAGCGACTGCAGCGCTGGACGCGT
CCCCTGTCCGGCTTGGTATGGGTCGCGCTGCTAGCGCTAGGCCACGCCTTCCTGTTCACCGGGG
GCGTGGTGAGCGCCTGGGACCAGGTGTCCTATTTTCTCTTCGTCATCTTCACGGCGTATGCCAT
GCTGCCCTTGGGCATGCGGGACGCCGCCGTCGCGGGCCTCGCCTCCTCACTCTCGCATCTGCTG
GTCCTCGGGCTGTATCTTGGGCCACAGCCGGACTCACGGCCTGCACTGCTGCCGCAGTTGGCAG
CAAACGCAGTGCTGTTCCTGTGCGGGAACGTGGCAGGAGTGTACCACAAGGCGCTGATGGAGCG
CGCCCTGCGGGCCACGTTCCGGGAGGCACTCAGCTCCCTGCACTCACGCCGGCGGCTGGACACC
GAGAAGAAGCACCAGGAACACCTTCTCTTGTCCATCCTTCCTGCCTACCTGGCCCGAGAGATGA
AGGCAGAGATCATGGCACGGCTGCAGGCAGGACAGGGGTCACGGCCAGAGAGCACTAACAATTT
CCACAGCCTCTATGTCAAGAGGCACCAGGGAGTCAGCGTGCTGTATGCTGACATCGTGGGCTTC
ACGCGGCTGGCCAGCGAGTGTTCCCCTAAGGAGCTGGTGCTCATGCTCAATGAGCTCTTTGGCA
AGTTCGACCAGATTGCCAAGGAGCATGAATGCATGCGGATCAAGATCCTGGGGGACTGTTACTA
CTGTGTCTCTGGGCTGCCACTCTCACTGCCAGACCATGCCATCAACTGCGTGCGCATGGGCCTG
GACATGTGCCGGGCCATCAGGAAACTGCGGGCAGCCACTGGCGTGGACATCAACATGCGTGTGG
GCGTGCACTCAGGCAGCGTACTGTGTGGAGTCATCGGGCTGCAGAAGTGGCAGTACGACGTTTG
GTCACATGATGTCACACTGGCTAACCACATGGAGGCAGGCGGTGTACCAGGGCGAGTGCACATC
ACAGGGGCTACCCTGGCCCTGCTGGCAGGGGCTTATGCTGTGGAGGACGCAGGCATGGAGCATC
GGGACCCCTACCTTCGGGAGCTAGGGGAGCCTACCTATCTGGTCATCGATCCACGGGCAGAGGA
GGAGGATGAGAAGGGCACTGCAGGAGGCTTGCTGTCCTCGCTTGAGGGCCTCAAGATGCGTCCA
TCACTGCTGATGACCCGTTACCTGGAGTCCTGGGGCGCAGCCAAGCCTTTTGCCCACCTGAGCC
ACGGAGACAGCCCTGTGTCCACCTCCACCCCTCTCCCGGAGAAGACCCTGGCTTCCTTCAGCAC
CCAGTGGAGCCTGGATCGGAGCCGTACCCCCCGGGGACTAGATGATGAACTGGACACCGGGGAT
GCCAAGTTCTTCCAGGTCATTGAGCAGCTCAACTCGCAGAAACAGTGGAAGCAGTCGAAGGACT
TCAACCCACTGACACTGTACTTCAGAGAGAAGGAGATGGAGAAAGAGTACCGACTCTCTGCAAT
CCCCGCCTTCAAATACTATGAAGCCTGCACCTTCCTGGTTTTTCTCTCCAACTTCATCATCCAG
ATGCTAGTGACAAACAGGCCCCCAGCTCTGGCCATCACGTATAGCATCACCTTCCTCCTCTTCC
TCCTCATCCTTTTTGTCTGCTTCTCAGAGGACCTGATGAGGTGTGTCCTGAAAGGCCCCAAGAT
GCTGCACTGGCTGCCTGCACTGTCTGGCCTGGTGGCCACACGACCAGGACTGAGAATAGCCTTG
GGCACCGCCACCATCCTCCTTGTCTTTGCCATGGCCATTACCAGCCTGTTCTTCTTCCCAACAT
CATCAGACTGCCCTTTCCAAGCTCCCAATGTGTCCTCCATGATTTCCAACCTCTCCTGGGAGCT
CCCTGGGTCTCTGCCTCTCATCAGTGTCCCATACTCCATGCACTGCTGCACGCTGGGCTTCCTC
TCCTGCTCCCTCTTTCTGCACATGAGCTTCGAGCTGAAGCTGCTGCTGCTCCTGCTGTGGCTGG
CGGCATCCTGCTCCCTCTTCCTGCACTCCCATGCCTGGCTGTCGGAATGCCTCATCGTCCGCCT
CTATCTGGGCCCCTTGGACTCCAGGCCCGGAGTGCTGAAGGAGCCCAAACTGATGGGTGCTATC
TCCTTCTTCATCTTCTTCTTCACCCTCCTTGTCCTGGCTCGCCAGAATGAGTACTACTGCCGCC
TGGACTTCCTGTGGAAGAAGAAGCTGAGGCAGGAGAGGGAGGAGACAGAGACGATGGAGAACCT
GACTCGGCTGCTCTTGGAGAACGTGCTCCCTGCACACGTGGCCCCCCAGTTCATTGGCCAGAAC
CGGCGCAACGAGGATCTCTACCACCAGTCCTATGAATGCGTTTGTGTCCTCTTCGCCTCAGTCC
CAGACTTCAAGGAGTTCTACTCTGAATCCAACATCAATCATGAGGGCCTAGAGTGTCTGAGGCT
GCTCAATGAGATAATTGCTGATTTTGATGAGCTGCTCTCCAAGCCCAAGTTCAGTGGGGTGGAG
AAGATCAAGACCATCGGCAGCACCTACATGGCAGCCACAGGCTTAAATGCCACCTCTGGACAGG
ATGCACAACAGGATGCTGAACGGAGCTGCAGCCACCTTGGCACTATGGTGGAATTTGCCGTGGC
CCTGGGGTCTAAGCTGGACGTCATCAACAAGCATTCATTCAACAACTTCCGCCTGCGAGTGGGG
TTGAACCATGGACCCGTAGTAGCTGGAGTTATTGGGGCCCAGAAGCCGCAATATGACATTTGGG
GCAACACAGTGAACGTGGCCAGCCGCATGGAGAGTACAGGAGTCCTTGGCAAAATCCAAGTGAC
TGAGGAGACAGCATGGGCCCTACAGTCCCTGGGCTACACCTGCTACAGCCGGGGTGTCATCAAG
GTGAAAGGCAAAGGGCAGCTCTGCACCTACTTCCTGAACACAGACTTGACACGAACTGGACCTC
CTTCAGCTACCCTAGGCTGAGATTGCACTCGCCTTCTAAGAACCTCAATAAAGAGACTCTGGGG
TGTCTGGAGCCCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001185497	(Get FASTA)	NCBI Sequence Viewer
	NP_001185521	(Get FASTA)	NCBI Sequence Viewer
	NP_640340	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH15982	(Get FASTA)	NCBI Sequence Viewer
	AAI17474	(Get FASTA)	NCBI Sequence Viewer
	AAI17476	(Get FASTA)	NCBI Sequence Viewer
	AAM94373	(Get FASTA)	NCBI Sequence Viewer
	BAB71270	(Get FASTA)	NCBI Sequence Viewer
	BAC86560	(Get FASTA)	NCBI Sequence Viewer
	BAD18492	(Get FASTA)	NCBI Sequence Viewer
	BAG53686	(Get FASTA)	NCBI Sequence Viewer
	CAD62613	(Get FASTA)	NCBI Sequence Viewer
	EAW66023	(Get FASTA)	NCBI Sequence Viewer
	EAW66024	(Get FASTA)	NCBI Sequence Viewer
	EAW66025	(Get FASTA)	NCBI Sequence Viewer
	EAW66026	(Get FASTA)	NCBI Sequence Viewer
	EAW66027	(Get FASTA)	NCBI Sequence Viewer
	EAW66028	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000312126
	ENSP00000312126.4
	ENSP00000393177
	ENSP00000393177.2
	ENSP00000452250
	ENSP00000452250.2
	ENSP00000494454.1
	ENSP00000494977.1
	ENSP00000495316.1
GenBank Protein	Q8NFM4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_640340 ⟸ NM_139247

- UniProtKB:

Q96ML7 (UniProtKB/Swiss-Prot), Q8NFM4 (UniProtKB/Swiss-Prot), Q6ZTM6 (UniProtKB/Swiss-Prot), B3KV74 (UniProtKB/Swiss-Prot), Q17R40 (UniProtKB/Swiss-Prot), D3DS75 (UniProtKB/Swiss-Prot), Q86TZ7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MARLFSPRPPPSEDLFYETYYSLSQQYPLLLLLLGIVLCALAALLAVAWASGRELTSDPSFLTT
VLCALGGFSLLLGLASREQRLQRWTRPLSGLVWVALLALGHAFLFTGGVVSAWDQVSYFLFVIF
TAYAMLPLGMRDAAVAGLASSLSHLLVLGLYLGPQPDSRPALLPQLAANAVLFLCGNVAGVYHK
ALMERALRATFREALSSLHSRRRLDTEKKHQEHLLLSILPAYLAREMKAEIMARLQAGQGSRPE
STNNFHSLYVKRHQGVSVLYADIVGFTRLASECSPKELVLMLNELFGKFDQIAKEHECMRIKIL
GDCYYCVSGLPLSLPDHAINCVRMGLDMCRAIRKLRAATGVDINMRVGVHSGSVLCGVIGLQKW
QYDVWSHDVTLANHMEAGGVPGRVHITGATLALLAGAYAVEDAGMEHRDPYLRELGEPTYLVID
PRAEEEDEKGTAGGLLSSLEGLKMRPSLLMTRYLESWGAAKPFAHLSHGDSPVSTSTPLPEKTL
ASFSTQWSLDRSRTPRGLDDELDTGDAKFFQVIEQLNSQKQWKQSKDFNPLTLYFREKEMEKEY
RLSAIPAFKYYEACTFLVFLSNFIIQMLVTNRPPALAITYSITFLLFLLILFVCFSEDLMRCVL
KGPKMLHWLPALSGLVATRPGLRIALGTATILLVFAMAITSLFFFPTSSDCPFQAPNVSSMISN
LSWELPGSLPLISVPYSMHCCTLGFLSCSLFLHMSFELKLLLLLLWLAASCSLFLHSHAWLSEC
LIVRLYLGPLDSRPGVLKEPKLMGAISFFIFFFTLLVLARQNEYYCRLDFLWKKKLRQEREETE
TMENLTRLLLENVLPAHVAPQFIGQNRRNEDLYHQSYECVCVLFASVPDFKEFYSESNINHEGL
ECLRLLNEIIADFDELLSKPKFSGVEKIKTIGSTYMAATGLNATSGQDAQQDAERSCSHLGTMV
EFAVALGSKLDVINKHSFNNFRLRVGLNHGPVVAGVIGAQKPQYDIWGNTVNVASRMESTGVLG
KIQVTEETAWALQSLGYTCYSRGVIKVKGKGQLCTYFLNTDLTRTGPPSATLG

hide sequence

RefSeq Acc Id:

NP_001185521 ⟸ NM_001198592

- UniProtKB:

Q96ML7 (UniProtKB/Swiss-Prot), Q8NFM4 (UniProtKB/Swiss-Prot), Q6ZTM6 (UniProtKB/Swiss-Prot), Q17R40 (UniProtKB/Swiss-Prot), D3DS75 (UniProtKB/Swiss-Prot), B3KV74 (UniProtKB/Swiss-Prot), Q86TZ7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MARLFSPRPPPSEDLFYETYYSLSQQYPLLLLLLGIVLCALAALLAVAWASGRELTSDPSFLTT
VLCALGGFSLLLGLASREQRLQRWTRPLSGLVWVALLALGHAFLFTGGVVSAWDQVSYFLFVIF
TAYAMLPLGMRDAAVAGLASSLSHLLVLGLYLGPQPDSRPALLPQLAANAVLFLCGNVAGVYHK
ALMERALRATFREALSSLHSRRRLDTEKKHQEHLLLSILPAYLAREMKAEIMARLQAGQGSRPE
STNNFHSLYVKRHQGVSVLYADIVGFTRLASECSPKELVLMLNELFGKFDQIAKEHECMRIKIL
GDCYYCVSGLPLSLPDHAINCVRMGLDMCRAIRKLRAATGVDINMRVGVHSGSVLCGVIGLQKW
QYDVWSHDVTLANHMEAGGVPGRVHITGATLALLAGAYAVEDAGMEHRDPYLRELGEPTYLVID
PRAEEEDEKGTAGGLLSSLEGLKMRPSLLMTRYLESWGAAKPFAHLSHGDSPVSTSTPLPEKTL
ASFSTQWSLDRSRTPRGLDDELDTGDAKFFQVIEQLNSQKQWKQSKDFNPLTLYFREKEMEKEY
RLSAIPAFKYYEACTFLVFLSNFIIQMLVTNRPPALAITYSITFLLFLLILFVCFSEDLMRCVL
KGPKMLHWLPALSGLVATRPGLRIALGTATILLVFAMAITSLFFFPTSSDCPFQAPNVSSMISN
LSWELPGSLPLISVPYSMHCCTLGFLSCSLFLHMSFELKLLLLLLWLAASCSLFLHSHAWLSEC
LIVRLYLGPLDSRPGVLKEPKLMGAISFFIFFFTLLVLARQNEYYCRLDFLWKKKLRQEREETE
TMENLTRLLLENVLPAHVAPQFIGQNRRNEDLYHQSYECVCVLFASVPDFKEFYSESNINHEGL
ECLRLLNEIIADFDELLSKPKFSGVEKIKTIGSTYMAATGLNATSGQDAQQDAERSCSHLGTMV
EFAVALGSKLDVINKHSFNNFRLRVGLNHGPVVAGVIGAQKPQYDIWGNTVNVASRMESTGVLG
KIQVTEETAWALQSLGYTCYSRGVIKVKGKGQLCTYFLNTDLTRTGPPSATLG

hide sequence

RefSeq Acc Id:

NP_001185497 ⟸ NM_001198568

- UniProtKB:

- Sequence:

show sequence

MARLFSPRPPPSEDLFYETYYSLSQQYPLLLLLLGIVLCALAALLAVAWASGRELTSDPSFLTT
VLCALGGFSLLLGLASREQRLQRWTRPLSGLVWVALLALGHAFLFTGGVVSAWDQVSYFLFVIF
TAYAMLPLGMRDAAVAGLASSLSHLLVLGLYLGPQPDSRPALLPQLAANAVLFLCGNVAGVYHK
ALMERALRATFREALSSLHSRRRLDTEKKHQEHLLLSILPAYLAREMKAEIMARLQAGQGSRPE
STNNFHSLYVKRHQGVSVLYADIVGFTRLASECSPKELVLMLNELFGKFDQIAKEHECMRIKIL
GDCYYCVSGLPLSLPDHAINCVRMGLDMCRAIRKLRAATGVDINMRVGVHSGSVLCGVIGLQKW
QYDVWSHDVTLANHMEAGGVPGRVHITGATLALLAGAYAVEDAGMEHRDPYLRELGEPTYLVID
PRAEEEDEKGTAGGLLSSLEGLKMRPSLLMTRYLESWGAAKPFAHLSHGDSPVSTSTPLPEKTL
ASFSTQWSLDRSRTPRGLDDELDTGDAKFFQVIEQLNSQKQWKQSKDFNPLTLYFREKEMEKEY
RLSAIPAFKYYEACTFLVFLSNFIIQMLVTNRPPALAITYSITFLLFLLILFVCFSEDLMRCVL
KGPKMLHWLPALSGLVATRPGLRIALGTATILLVFAMAITSLFFFPTSSDCPFQAPNVSSMISN
LSWELPGSLPLISVPYSMHCCTLGFLSCSLFLHMSFELKLLLLLLWLAASCSLFLHSHAWLSEC
LIVRLYLGPLDSRPGVLKEPKLMGAISFFIFFFTLLVLARQNEYYCRLDFLWKKKLRQEREETE
TMENLTRLLLENVLPAHVAPQFIGQNRRNEDLYHQSYECVCVLFASVPDFKEFYSESNINHEGL
ECLRLLNEIIADFDELLSKPKFSGVEKIKTIGSTYMAATGLNATSGQDAQQDAERSCSHLGTMV
EFAVALGSKLDVINKHSFNNFRLRVGLNHGPVVAGVIGAQKPQYDIWGNTVNVASRMESTGVLG
KIQVTEETAWALQSLGYTCYSRGVIKVKGKGQLCTYFLNTDLTRTGPPSATLG

hide sequence

Ensembl Acc Id:

ENSP00000450843 ⟸ ENST00000556932

Ensembl Acc Id:

ENSP00000450481 ⟸ ENST00000557056

Ensembl Acc Id:

ENSP00000453259 ⟸ ENST00000559167

Ensembl Acc Id:

ENSP00000312126 ⟸ ENST00000310677

Ensembl Acc Id:

ENSP00000393177 ⟸ ENST00000418030

Ensembl Acc Id:

ENSP00000453893 ⟸ ENST00000561138

Ensembl Acc Id:

ENSP00000450477 ⟸ ENST00000554781

Ensembl Acc Id:

ENSP00000452250 ⟸ ENST00000554068

Protein Domains

Adenylate cyclase conserved Guanylate cyclase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NFM4-F1-model_v2	AlphaFold	Q8NFM4	1-1077	view protein structure

Promoters

RGD ID:

6791465

Promoter ID:

HG_KWN:19105

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000310677, ENST00000396747, UC001WOW.1, UC001WOY.1, UC001WOZ.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	23,873,686 - 23,874,186 (-)	MPROMDB

RGD ID:

7227305

Promoter ID:

EPDNEW_H19398

Type:

multiple initiation site

Name:

ADCY4_2

Description:

adenylate cyclase 4

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19399

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	24,334,771 - 24,334,831	EPDNEW

RGD ID:

7227307

Promoter ID:

EPDNEW_H19399

Type:

initiation region

Name:

ADCY4_1

Description:

adenylate cyclase 4

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19398

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	24,335,071 - 24,335,131	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:235	AgrOrtholog
COSMIC	ADCY4	COSMIC
Ensembl Genes	ENSG00000129467	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000284814	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000310677	ENTREZGENE
	ENST00000310677.8	UniProtKB/Swiss-Prot
	ENST00000418030	ENTREZGENE
	ENST00000418030.7	UniProtKB/Swiss-Prot
	ENST00000554068	ENTREZGENE
	ENST00000554068.6	UniProtKB/Swiss-Prot
	ENST00000642645.1	UniProtKB/Swiss-Prot
	ENST00000644961.1	UniProtKB/Swiss-Prot
	ENST00000646612.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.70.1230	UniProtKB/Swiss-Prot
GTEx	ENSG00000129467	GTEx
	ENSG00000284814	GTEx
HGNC ID	HGNC:235	ENTREZGENE
Human Proteome Map	ADCY4	Human Proteome Map
InterPro	A/G_cyclase	UniProtKB/Swiss-Prot
	A/G_cyclase_CS	UniProtKB/Swiss-Prot
	AC_N	UniProtKB/Swiss-Prot
	Adcy	UniProtKB/Swiss-Prot
	Adcy_conserved_dom	UniProtKB/Swiss-Prot
	Nucleotide_cyclase	UniProtKB/Swiss-Prot
KEGG Report	hsa:196883	UniProtKB/Swiss-Prot
NCBI Gene	ADCY4	ENTREZGENE
OMIM	600292	OMIM
PANTHER	ADENYLATE CYCLASE TYPE 1	UniProtKB/Swiss-Prot
	ADENYLATE CYCLASE TYPE 4	UniProtKB/Swiss-Prot
Pfam	AC_N	UniProtKB/Swiss-Prot
	DUF1053	UniProtKB/Swiss-Prot
	Guanylate_cyc	UniProtKB/Swiss-Prot
PharmGKB	PA24562	PharmGKB
PIRSF	Ade_cyc	UniProtKB/Swiss-Prot
PROSITE	GUANYLATE_CYCLASE_1	UniProtKB/Swiss-Prot
	GUANYLATE_CYCLASE_2	UniProtKB/Swiss-Prot
RNAcentral	URS0000EB66FC	RNACentral
	URS0002617FE3	RNACentral
SMART	CYCc	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF55073	UniProtKB/Swiss-Prot
UniProt	ADCY4_HUMAN	UniProtKB/Swiss-Prot
	B3KV74	ENTREZGENE
	D3DS75	ENTREZGENE
	G3V258_HUMAN	UniProtKB/TrEMBL
	G3V262_HUMAN	UniProtKB/TrEMBL
	H0YJ57_HUMAN	UniProtKB/TrEMBL
	H0YLM0_HUMAN	UniProtKB/TrEMBL
	H0YN72_HUMAN	UniProtKB/TrEMBL
	Q17R40	ENTREZGENE
	Q6ZTM6	ENTREZGENE
	Q86TZ7	ENTREZGENE, UniProtKB/TrEMBL
	Q8NFM4	ENTREZGENE
	Q96KY6_HUMAN	UniProtKB/TrEMBL
	Q96ML7	ENTREZGENE
UniProt Secondary	B3KV74	UniProtKB/Swiss-Prot
	D3DS75	UniProtKB/Swiss-Prot
	Q17R40	UniProtKB/Swiss-Prot
	Q6ZTM6	UniProtKB/Swiss-Prot
	Q96ML7	UniProtKB/Swiss-Prot

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)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)