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Gene: CCDC87 (coiled-coil domain containing 87) Homo sapiens

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Symbol:

CCDC87

Name:

coiled-coil domain containing 87

RGD ID:

1602481

HGNC Page

HGNC:25579

Description:

Predicted to be involved in positive regulation of acrosome reaction and positive regulation of fertilization.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

coiled-coil domain-containing protein 87; FLJ10786

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	11	66,590,176 - 66,593,063 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	66,590,176 - 66,593,063 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	66,357,647 - 66,360,534 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	66,114,216 - 66,117,130 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	11	q13.2	NCBI
HuRef	11	62,685,282 - 62,688,197 (-)	NCBI		HuRef
CHM1_1	11	66,241,371 - 66,244,285 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	66,586,422 - 66,589,309 (-)	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

Aicardi-Goutieres Syndrome 3 (IAGP)

immunodeficiency 90 (IAGP)

intellectual disability (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

benzo[a]pyrene (EXP)

bisphenol A (ISO)

dimethylarsinic acid (ISO)

ethanol (ISO)

furan (ISO)

genistein (ISO)

iron dichloride (EXP)

methylarsonic acid (ISO)

ozone (ISO)

sodium arsenate (ISO)

sodium arsenite (EXP,ISO)

sotorasib (EXP)

sunitinib (EXP)

titanium dioxide (ISO)

trametinib (EXP)

Tributyltin oxide (ISO)

triptonide (ISO)

urethane (EXP)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

positive regulation of acrosome reaction (IEA,ISS)

positive regulation of fertilization (IEA,ISS)

single fertilization (IEA)

spermatogenesis (IEA)

Molecular Function

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:16189514	PMID:17643375	PMID:21926972	PMID:23443559	PMID:25416956	PMID:25814554	PMID:26949251	PMID:27591049	PMID:29507755	PMID:29676528
PMID:29733332	PMID:32296183	PMID:35044719	PMID:35256949	PMID:38334954

Genomics

Comparative Map Data

CCDC87
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	66,590,176 - 66,593,063 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	66,590,176 - 66,593,063 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	66,357,647 - 66,360,534 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	66,114,216 - 66,117,130 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Cytogenetic Map	11	q13.2	NCBI
HuRef	11	62,685,282 - 62,688,197 (-)	NCBI		HuRef
CHM1_1	11	66,241,371 - 66,244,285 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	66,586,422 - 66,589,309 (-)	NCBI		T2T-CHM13v2.0

Ccdc87
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	4,889,394 - 4,892,556 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	4,889,394 - 4,892,556 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	4,839,366 - 4,842,528 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	4,839,366 - 4,842,528 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	4,839,366 - 4,842,528 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	4,839,415 - 4,842,163 (+)	NCBI		MGSCv36	mm8
Celera	19	4,710,421 - 4,713,583 (+)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	4.11	NCBI

Ccdc87
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	211,564,419 - 211,567,115 (+)	NCBI		GRCr8
mRatBN7.2	1	202,135,021 - 202,137,717 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	202,134,963 - 202,138,337 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	210,488,160 - 210,490,856 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	217,580,453 - 217,583,149 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	210,271,475 - 210,274,171 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	220,096,478 - 220,099,174 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	220,096,422 - 220,099,611 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	227,027,475 - 227,030,171 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	207,451,155 - 207,453,851 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	199,675,524 - 199,678,217 (+)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Ccdc87
(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	NW_004955422	18,772,869 - 18,775,548 (+)	NCBI	ChiLan1.0	ChiLan1.0

CCDC87
(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	9	67,814,623 - 67,818,231 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	68,857,399 - 68,861,008 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	61,946,954 - 61,949,840 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	65,270,801 - 65,273,720 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

CCDC87
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	50,759,378 - 50,762,205 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	50,759,436 - 50,762,057 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	49,368,112 - 49,370,929 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	51,790,913 - 51,793,730 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	51,790,961 - 51,793,582 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	50,892,297 - 50,895,114 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	50,472,130 - 50,474,948 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	51,261,982 - 51,264,800 (+)	NCBI		UU_Cfam_GSD_1.0

Ccdc87
(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	6,562,699 - 6,565,919 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936599	3,005,067 - 3,008,053 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CCDC87
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	5,833,464 - 5,836,686 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	5,833,431 - 5,838,922 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	4,863,943 - 4,867,188 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CCDC87
(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	1	7,686,514 - 7,689,390 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	7,686,575 - 7,689,061 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	104,970,062 - 104,972,985 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ccdc87
(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_004624767	19,815,707 - 19,818,268 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624767	19,815,664 - 19,818,796 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CCDC87
85 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	copy number gain	See cases [RCV000053623]	Chr11:66193502..67890770 [GRCh38] Chr11:65960973..67658241 [GRCh37] Chr11:65717549..67414817 [NCBI36] Chr11:11q13.2	pathogenic
NM_018219.2(CCDC87):c.544C>T (p.Leu182=)	single nucleotide variant	Malignant melanoma [RCV000069622]	Chr11:66592472 [GRCh38] Chr11:66359943 [GRCh37] Chr11:66116519 [NCBI36] Chr11:11q13.2	not provided
NM_018219.2(CCDC87):c.1620C>T (p.Ile540=)	single nucleotide variant	Malignant melanoma [RCV000062329]	Chr11:66591396 [GRCh38] Chr11:66358867 [GRCh37] Chr11:66115443 [NCBI36] Chr11:11q13.2	not provided
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	copy number loss	See cases [RCV000142881]	Chr11:65741431..67705669 [GRCh38] Chr11:65508902..67473140 [GRCh37] Chr11:65265478..67229716 [NCBI36] Chr11:11q13.1-13.2	pathogenic
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	copy number gain	See cases [RCV000240374]	Chr11:66024774..67430781 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	copy number gain	See cases [RCV000511632]	Chr11:64501919..67129258 [GRCh37] Chr11:11q13.1-13.2	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_018219.3(CCDC87):c.230C>T (p.Pro77Leu)	single nucleotide variant	not specified [RCV004302285]	Chr11:66592786 [GRCh38] Chr11:66360257 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	copy number gain	not provided [RCV000767601]	Chr11:65138976..67574402 [GRCh37] Chr11:11q13.1-13.2	pathogenic
NC_000011.9:g.(?_64973914)_(70052579_?)dup	duplication	Aicardi-Goutieres syndrome 3 [RCV003113322]\|FADD-related immunodeficiency [RCV003107753]	Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3	uncertain significance
NM_018219.3(CCDC87):c.1252C>T (p.Pro418Ser)	single nucleotide variant	not specified [RCV004292096]	Chr11:66591764 [GRCh38] Chr11:66359235 [GRCh37] Chr11:11q13.2	uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup	duplication	Familial temporal lobe epilepsy 8 [RCV001372442]	Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3	uncertain significance
NM_018219.3(CCDC87):c.2306G>A (p.Arg769Gln)	single nucleotide variant	not specified [RCV004293101]	Chr11:66590710 [GRCh38] Chr11:66358181 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	copy number loss	not specified [RCV002052930]	Chr11:64935724..66405514 [GRCh37] Chr11:11q13.1-13.2	uncertain significance
GRCh37/hg19 11q13.2(chr11:66188172-66402747)	copy number gain	not specified [RCV002052931]	Chr11:66188172..66402747 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	copy number loss	not provided [RCV001827874]	Chr11:65963737..66581485 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_018219.3(CCDC87):c.472C>T (p.Leu158Phe)	single nucleotide variant	not specified [RCV004311402]	Chr11:66592544 [GRCh38] Chr11:66360015 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	copy number gain	not provided [RCV002511719]	Chr11:66178392..66433436 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.596G>A (p.Cys199Tyr)	single nucleotide variant	not specified [RCV004086100]	Chr11:66592420 [GRCh38] Chr11:66359891 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2437A>G (p.Lys813Glu)	single nucleotide variant	not specified [RCV004139147]	Chr11:66590579 [GRCh38] Chr11:66358050 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.17A>G (p.Lys6Arg)	single nucleotide variant	not specified [RCV004159108]	Chr11:66592999 [GRCh38] Chr11:66360470 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.457C>T (p.Arg153Trp)	single nucleotide variant	not specified [RCV004125320]	Chr11:66592559 [GRCh38] Chr11:66360030 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1108C>T (p.Arg370Cys)	single nucleotide variant	not specified [RCV004215261]	Chr11:66591908 [GRCh38] Chr11:66359379 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.704G>A (p.Arg235His)	single nucleotide variant	not specified [RCV004208388]	Chr11:66592312 [GRCh38] Chr11:66359783 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1037C>T (p.Pro346Leu)	single nucleotide variant	not specified [RCV004184632]	Chr11:66591979 [GRCh38] Chr11:66359450 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1181G>T (p.Arg394Leu)	single nucleotide variant	not specified [RCV004242544]	Chr11:66591835 [GRCh38] Chr11:66359306 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.706C>G (p.Pro236Ala)	single nucleotide variant	not specified [RCV004197235]	Chr11:66592310 [GRCh38] Chr11:66359781 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.287G>A (p.Arg96Gln)	single nucleotide variant	not specified [RCV004136198]	Chr11:66592729 [GRCh38] Chr11:66360200 [GRCh37] Chr11:11q13.2	likely benign
NM_018219.3(CCDC87):c.1417C>G (p.Leu473Val)	single nucleotide variant	not specified [RCV004119412]	Chr11:66591599 [GRCh38] Chr11:66359070 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.602C>T (p.Ala201Val)	single nucleotide variant	not specified [RCV004120927]	Chr11:66592414 [GRCh38] Chr11:66359885 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1339C>T (p.Arg447Trp)	single nucleotide variant	not specified [RCV004199204]	Chr11:66591677 [GRCh38] Chr11:66359148 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1418T>C (p.Leu473Pro)	single nucleotide variant	not specified [RCV004120879]	Chr11:66591598 [GRCh38] Chr11:66359069 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1315G>A (p.Val439Ile)	single nucleotide variant	not specified [RCV004197435]	Chr11:66591701 [GRCh38] Chr11:66359172 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2480G>A (p.Arg827His)	single nucleotide variant	not specified [RCV004128863]	Chr11:66590536 [GRCh38] Chr11:66358007 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.389G>T (p.Arg130Leu)	single nucleotide variant	not specified [RCV004217450]	Chr11:66592627 [GRCh38] Chr11:66360098 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1178A>G (p.His393Arg)	single nucleotide variant	not specified [RCV004208816]	Chr11:66591838 [GRCh38] Chr11:66359309 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1703C>T (p.Ser568Leu)	single nucleotide variant	not specified [RCV004104620]	Chr11:66591313 [GRCh38] Chr11:66358784 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2249G>A (p.Arg750His)	single nucleotide variant	not specified [RCV004185985]	Chr11:66590767 [GRCh38] Chr11:66358238 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.728C>A (p.Pro243Gln)	single nucleotide variant	not specified [RCV004166776]	Chr11:66592288 [GRCh38] Chr11:66359759 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2471G>A (p.Arg824Gln)	single nucleotide variant	not specified [RCV004073932]	Chr11:66590545 [GRCh38] Chr11:66358016 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2099A>G (p.Asp700Gly)	single nucleotide variant	not specified [RCV004142442]	Chr11:66590917 [GRCh38] Chr11:66358388 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1822T>G (p.Phe608Val)	single nucleotide variant	not specified [RCV004097186]	Chr11:66591194 [GRCh38] Chr11:66358665 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2095G>A (p.Val699Met)	single nucleotide variant	not specified [RCV004097391]	Chr11:66590921 [GRCh38] Chr11:66358392 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1621A>G (p.Ile541Val)	single nucleotide variant	not specified [RCV004175500]	Chr11:66591395 [GRCh38] Chr11:66358866 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1814A>G (p.Glu605Gly)	single nucleotide variant	not specified [RCV004221888]	Chr11:66591202 [GRCh38] Chr11:66358673 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1667T>C (p.Leu556Ser)	single nucleotide variant	not specified [RCV004228435]	Chr11:66591349 [GRCh38] Chr11:66358820 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1376T>C (p.Ile459Thr)	single nucleotide variant	not specified [RCV004283005]	Chr11:66591640 [GRCh38] Chr11:66359111 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1606A>G (p.Lys536Glu)	single nucleotide variant	not specified [RCV004279243]	Chr11:66591410 [GRCh38] Chr11:66358881 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.22G>A (p.Glu8Lys)	single nucleotide variant	not specified [RCV004357962]	Chr11:66592994 [GRCh38] Chr11:66360465 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1065G>T (p.Glu355Asp)	single nucleotide variant	not specified [RCV004355280]	Chr11:66591951 [GRCh38] Chr11:66359422 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2453A>G (p.Tyr818Cys)	single nucleotide variant	not specified [RCV004365801]	Chr11:66590563 [GRCh38] Chr11:66358034 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.104A>C (p.Gln35Pro)	single nucleotide variant	not specified [RCV004336136]	Chr11:66592912 [GRCh38] Chr11:66360383 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.957G>C (p.Trp319Cys)	single nucleotide variant	not specified [RCV004365664]	Chr11:66592059 [GRCh38] Chr11:66359530 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.214G>A (p.Ala72Thr)	single nucleotide variant	not specified [RCV004356093]	Chr11:66592802 [GRCh38] Chr11:66360273 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.542C>T (p.Ala181Val)	single nucleotide variant	not specified [RCV004344154]	Chr11:66592474 [GRCh38] Chr11:66359945 [GRCh37] Chr11:11q13.2	uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	copy number gain	not provided [RCV003484842]	Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5	pathogenic
NM_018219.3(CCDC87):c.2499G>A (p.Leu833=)	single nucleotide variant	not provided [RCV003398022]	Chr11:66590517 [GRCh38] Chr11:66357988 [GRCh37] Chr11:11q13.2	likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	copy number gain	not specified [RCV003986944]	Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3	likely pathogenic
NM_018219.3(CCDC87):c.1264T>G (p.Phe422Val)	single nucleotide variant	not specified [RCV004427848]	Chr11:66591752 [GRCh38] Chr11:66359223 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1405C>G (p.Leu469Val)	single nucleotide variant	not specified [RCV004427849]	Chr11:66591611 [GRCh38] Chr11:66359082 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1564G>A (p.Asp522Asn)	single nucleotide variant	not specified [RCV004427850]	Chr11:66591452 [GRCh38] Chr11:66358923 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1598G>A (p.Arg533His)	single nucleotide variant	not specified [RCV004427851]	Chr11:66591418 [GRCh38] Chr11:66358889 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1613C>T (p.Pro538Leu)	single nucleotide variant	not specified [RCV004427852]	Chr11:66591403 [GRCh38] Chr11:66358874 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1834A>G (p.Ile612Val)	single nucleotide variant	not specified [RCV004427853]	Chr11:66591182 [GRCh38] Chr11:66358653 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2168G>A (p.Arg723Gln)	single nucleotide variant	not specified [RCV004427854]	Chr11:66590848 [GRCh38] Chr11:66358319 [GRCh37] Chr11:11q13.2	likely benign
NM_018219.3(CCDC87):c.244C>T (p.Arg82Cys)	single nucleotide variant	not specified [RCV004427855]	Chr11:66592772 [GRCh38] Chr11:66360243 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.338G>A (p.Arg113Gln)	single nucleotide variant	not specified [RCV004427856]	Chr11:66592678 [GRCh38] Chr11:66360149 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.425G>A (p.Arg142Lys)	single nucleotide variant	not specified [RCV004427857]	Chr11:66592591 [GRCh38] Chr11:66360062 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.907T>A (p.Cys303Ser)	single nucleotide variant	not specified [RCV004430343]	Chr11:66592109 [GRCh38] Chr11:66359580 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.50G>C (p.Arg17Pro)	single nucleotide variant	not specified [RCV004430338]	Chr11:66592966 [GRCh38] Chr11:66360437 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.71T>C (p.Leu24Pro)	single nucleotide variant	not specified [RCV004430340]	Chr11:66592945 [GRCh38] Chr11:66360416 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.767C>G (p.Pro256Arg)	single nucleotide variant	not specified [RCV004430341]	Chr11:66592249 [GRCh38] Chr11:66359720 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.816G>C (p.Lys272Asn)	single nucleotide variant	not specified [RCV004430342]	Chr11:66592200 [GRCh38] Chr11:66359671 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2474G>A (p.Arg825Gln)	single nucleotide variant	not specified [RCV004604655]	Chr11:66590542 [GRCh38] Chr11:66358013 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.346C>T (p.Leu116Phe)	single nucleotide variant	not specified [RCV004604660]	Chr11:66592670 [GRCh38] Chr11:66360141 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1637T>G (p.Val546Gly)	single nucleotide variant	not specified [RCV004604662]	Chr11:66591379 [GRCh38] Chr11:66358850 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.233A>T (p.Glu78Val)	single nucleotide variant	not specified [RCV004604659]	Chr11:66592783 [GRCh38] Chr11:66360254 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.920G>A (p.Arg307Gln)	single nucleotide variant	not specified [RCV004604657]	Chr11:66592096 [GRCh38] Chr11:66359567 [GRCh37] Chr11:11q13.2	likely benign
NM_018219.3(CCDC87):c.1067A>C (p.Asp356Ala)	single nucleotide variant	not specified [RCV004604661]	Chr11:66591949 [GRCh38] Chr11:66359420 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.146C>T (p.Pro49Leu)	single nucleotide variant	not specified [RCV004604656]	Chr11:66592870 [GRCh38] Chr11:66360341 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1660A>C (p.Asn554His)	single nucleotide variant	not specified [RCV004604654]	Chr11:66591356 [GRCh38] Chr11:66358827 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2329A>C (p.Asn777His)	single nucleotide variant	not specified [RCV004604658]	Chr11:66590687 [GRCh38] Chr11:66358158 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.936G>T (p.Met312Ile)	single nucleotide variant	not specified [RCV004895769]	Chr11:66592080 [GRCh38] Chr11:66359551 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2005C>T (p.Pro669Ser)	single nucleotide variant	not specified [RCV004895770]	Chr11:66591011 [GRCh38] Chr11:66358482 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.809T>C (p.Ile270Thr)	single nucleotide variant	not specified [RCV004895772]	Chr11:66592207 [GRCh38] Chr11:66359678 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.458G>C (p.Arg153Pro)	single nucleotide variant	not specified [RCV004895771]	Chr11:66592558 [GRCh38] Chr11:66360029 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.836G>C (p.Ser279Thr)	single nucleotide variant	not specified [RCV004895773]	Chr11:66592180 [GRCh38] Chr11:66359651 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1924G>C (p.Glu642Gln)	single nucleotide variant	not specified [RCV004895774]	Chr11:66591092 [GRCh38] Chr11:66358563 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.191A>G (p.Lys64Arg)	single nucleotide variant	not specified [RCV004895775]	Chr11:66592825 [GRCh38] Chr11:66360296 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.688C>T (p.Leu230Phe)	single nucleotide variant	not specified [RCV004895778]	Chr11:66592328 [GRCh38] Chr11:66359799 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.116C>T (p.Pro39Leu)	single nucleotide variant	not specified [RCV004895779]	Chr11:66592900 [GRCh38] Chr11:66360371 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.950A>T (p.Glu317Val)	single nucleotide variant	not specified [RCV004895780]	Chr11:66592066 [GRCh38] Chr11:66359537 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.2263A>G (p.Thr755Ala)	single nucleotide variant	not specified [RCV004895781]	Chr11:66590753 [GRCh38] Chr11:66358224 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1351A>G (p.Arg451Gly)	single nucleotide variant	not specified [RCV004895782]	Chr11:66591665 [GRCh38] Chr11:66359136 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.1574C>T (p.Thr525Ile)	single nucleotide variant	not specified [RCV004895783]	Chr11:66591442 [GRCh38] Chr11:66358913 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.296C>T (p.Pro99Leu)	single nucleotide variant	not specified [RCV004895784]	Chr11:66592720 [GRCh38] Chr11:66360191 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.137A>G (p.Gln46Arg)	single nucleotide variant	not specified [RCV004895785]	Chr11:66592879 [GRCh38] Chr11:66360350 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.268G>A (p.Glu90Lys)	single nucleotide variant	not specified [RCV004895776]	Chr11:66592748 [GRCh38] Chr11:66360219 [GRCh37] Chr11:11q13.2	uncertain significance
NM_018219.3(CCDC87):c.127C>G (p.Arg43Gly)	single nucleotide variant	not specified [RCV004895777]	Chr11:66592889 [GRCh38] Chr11:66360360 [GRCh37] Chr11:11q13.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	158
Count of miRNA genes:	154
Interacting mature miRNAs:	156
Transcripts:	ENST00000333861
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

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
1357380	BW64_H	Body weight QTL 64 (human)	2.2		Body weight	percent fat after exercise training	11	60978937	86978937	Human

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
1143	2396	2688	2099	4908	1691	2240	3	595	1496	438	2223	6591	5787	50	3700	1	835	1719	1532	172	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI391530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000333861 ⟹ ENSP00000328487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	66,590,176 - 66,593,063 (-)	Ensembl

RefSeq Acc Id:

NM_018219 ⟹ NP_060689

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	66,590,176 - 66,593,063 (-)	NCBI
GRCh37	11	66,357,640 - 66,360,554 (-)	RGD
Build 36	11	66,114,216 - 66,117,130 (-)	NCBI Archive
HuRef	11	62,685,282 - 62,688,197 (-)	ENTREZGENE
CHM1_1	11	66,241,371 - 66,244,285 (-)	NCBI
T2T-CHM13v2.0	11	66,586,422 - 66,589,309 (-)	NCBI

Sequence:

show sequence

AGTAACCCCTCGGCTTTCTGTTCCTGGACGGTGGCGGCCGCCGGCTCTATGATGGAGCCCCCGA
AGCCCGAGCCTGAGCTCCAGCGGTTTTACCACCGGCTGCTGCGTCCGCTGTCGCTCTTCCCCAC
TAGGACGACGTCCCCAGAGCCTCAGAAGCGCCCCCCGCAGGAGGGCCGGATTCTGCAGTCCTTC
CCTCTGGCGAAGCTGACGGTGGCGTCGCTGTGCAGCCAGGTGGCCAAGCTGCTGGCCGGCAGCG
GGATAGCAGCGGGAGTGCCTCCTGAGGCCCGACTACGTCTCATCAAGGTCATCCTGGACGAGCT
GAAGTGCAGCTGGCGGGAGCCGCCCGCCGAACTTAGTCTGAGCCACAAAAACAACCAGAAGCTG
CGGAAGCGGCTCGAGGCCTACGTGCTGCTGAGCAGCGAGCAGCTCTTCTTGCGCTACCTGCACC
TGCTGGTGACCATGTCGACTCCCAGGGGGGTCTTCACTGAATCAGCCACCCTCACCCGGTTGGC
CGCCAGCCTCGCCAGGGACTGCACACTCTTCCTTACTAGTCCCAACGTCTACCGTGGCCTGCTT
GCCGACTTCCAGGCCCTGCTGAGGGCAGAGCAGGCCTCTGGGGATGTGGACAAGCTGCACCCTG
TCTGCCCCGCTGGGACGTTCAAGCTGTGCCCTATCCCCTGGCCTCACAGCACTGGCTTCGCCCA
AGTGCAGTGCTCTAACCTCAACCTGAACTACCTCATCCAACTCAGCCGTCCACCAGAGTTTCTC
AATGAGCCAGGAAGGATGGATCCAGTGAAGGAATTGAAGTCCATCCCTCGGTTGAAGAGGAAAA
AGCCTTTCCACTGGCTGCCCTCCATAGGAAAGAAGAGAGAAATCGACATCAGTTCCTCACAGAT
GGTGTCGCTGCCCAGCTATCCTGTGGCCCCCACCAGCAGGGCTTCCCCCTCGCCTTTCTGCCCT
GAGCTCCGGAGAGGCCAATCCATGCCCTCCCTGCGTGAGGGCTGGAGGCTGGCAGATGAGTTGG
GCCTTCCTCCACTCCCATCTCGCCCCTTAACCCCGCTGGTCTTGGCTACAGAGAGCAAACCAGA
GCTGACTGGGCTCATCGTGGCTGAGGATCTGAAGCAGTTGATAAAGAAGATGAAGTTGGAGGGG
ACTCGCTACCCACCACTGGACTCAGGCCTGCCTCCTCTCCTGGGGGTTGTGACCCGTCACCCAG
CTGCAGGGCATCGCCTGGAGGAGCTGGAGAAGATGTTGAGGAACCTCCAGGAGGAAGAAGCCTC
TGGGCAGTGGGACCCCCAGCCCCCCAAATCCTTTCCACTTCACCCACAGCCAGTGACCATTACT
TTGAAGCTTAGAAATGAGGTCGTGGTCCAGGCGGCTGCCGTACGGGTCTCTGATAGAAACTTCT
TAGACTCTTTCCACATTGAGGGGGCCGGAGCCCTGTATAACCATCTGGCTGGTGAACTGGATCC
CAAAGCCATTGAAAAAATGGATATTGATAACTTTGTTGGCAGTACTACCAGGGAGGTCTACAAG
GAGTTGATGAGCCATGTCTCTTCTGACCACTTACATTTTGATCAAGGGCCCCTAGTTGAGCCTG
CAGCAGATAAAGACTGGTCGACCTTCCTGTCCTCAGCCTTTCTACGTCAAGAAAAACAGCCTCA
AATCATCAACCCTGAGCTGGTTGGACTTTACTCCCAGAGAGCAAACACTTTACAGTCCAATACT
AAGAAGATGCCCTCCCTCCCATCACTCCAAGCTACCAAAAGCTGGGAGAAGTGGTCAAACAAGG
CCTCCTTGATGAACTCATGGAAAACCACCTTGTCTGTGGATGACTACTTCAAGTACCTCACCAA
CCATGAAACAGATTTCCTTCATGTCATCTTTCAAATGCATGAAGAAGAGGTTCCTGTGGAGATT
GTGGCCCCTGCCAGAGAGTCCCTAGAGATTCAGCACCCTCCCCCATTGCTAGAAGATGAAGAAC
CAGACTTTGTGCCAGGAGAGTGGGATTGGAACACTGTGCTAGAGCACAGGCTAGGAGCTGGGAA
GACACCCCACCTGGGAGAACCCCACAAAATTCTGAGCCTGCAGAAGCATCTGGAACAACTGTGG
TCTGTGCTTGAGGTCCCTGACAAGGACCAGGTGGACATGACCATTAAATATAGCTCCAAAGCCC
GCCTGAGGCAGCTGCCTTCATTGGTGAATGCCTGGGAGCGGGCCCTGAAGCCCATTCAGCTGCG
GGAGGCATTGCTGGCGAGACTAGAGTGGTTTGAGGGACAAGCTTCCAATCCCAACCGCTTCTTC
AAAAAGACCAACTTGAGCTCCAGTCACTTCCTGGAGGAGAATCAGGTCCGAAGCCATCTCCACA
GGAAGCTCAACTTAATGGAGTCTTCTTTGGTTTCCCTCCTGGAGGAGATAGAGTTAATCTTTGG
CGAGCCAGTGATCTTCAAGGGGCGGCCCTACCTGGACAAGATGAAGAGTGACAAAGTGGAGATG
CTCTATTGGCTGCAACAGCAGCGGCGGGTTCGCCACCTGGTCTCGGCCCTGAAGGATCCCCACC
AGTCAACCCTGTTCAGGAGCTCAGCAGCCAGCCTTTAGTAGCTCCTGGGAATACCCCTATTACT
CCTTGACCAGGCCCAGTGCCCTCAAATGCCTCCCTCACCCCTAAATGGCCAGCAGCTCATCTAG
ACCTCTTTACTGCTTTGGAAGAAGAAATATTTGTCTATATCTGGGAGTGGAGGGTTCAGGAACA
TTATGCTTCCAACTATGAAGGGATTGAGACTAAAACTATTGTTTTCTTAGTGAAATTCTCATGA
AAGAATCCCCAAGCCTAGTAGTCCCATTATGTCAAGCCTTGCACAATACAAGCCAAATCTCCTA
TATCAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_060689	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH34469	(Get FASTA)	NCBI Sequence Viewer
	BAA91808	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000328487
	ENSP00000328487.3
GenBank Protein	Q9NVE4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060689 ⟸ NM_018219

- UniProtKB:

Q8NE76 (UniProtKB/Swiss-Prot), Q9NVE4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MMEPPKPEPELQRFYHRLLRPLSLFPTRTTSPEPQKRPPQEGRILQSFPLAKLTVASLCSQVAK
LLAGSGIAAGVPPEARLRLIKVILDELKCSWREPPAELSLSHKNNQKLRKRLEAYVLLSSEQLF
LRYLHLLVTMSTPRGVFTESATLTRLAASLARDCTLFLTSPNVYRGLLADFQALLRAEQASGDV
DKLHPVCPAGTFKLCPIPWPHSTGFAQVQCSNLNLNYLIQLSRPPEFLNEPGRMDPVKELKSIP
RLKRKKPFHWLPSIGKKREIDISSSQMVSLPSYPVAPTSRASPSPFCPELRRGQSMPSLREGWR
LADELGLPPLPSRPLTPLVLATESKPELTGLIVAEDLKQLIKKMKLEGTRYPPLDSGLPPLLGV
VTRHPAAGHRLEELEKMLRNLQEEEASGQWDPQPPKSFPLHPQPVTITLKLRNEVVVQAAAVRV
SDRNFLDSFHIEGAGALYNHLAGELDPKAIEKMDIDNFVGSTTREVYKELMSHVSSDHLHFDQG
PLVEPAADKDWSTFLSSAFLRQEKQPQIINPELVGLYSQRANTLQSNTKKMPSLPSLQATKSWE
KWSNKASLMNSWKTTLSVDDYFKYLTNHETDFLHVIFQMHEEEVPVEIVAPARESLEIQHPPPL
LEDEEPDFVPGEWDWNTVLEHRLGAGKTPHLGEPHKILSLQKHLEQLWSVLEVPDKDQVDMTIK
YSSKARLRQLPSLVNAWERALKPIQLREALLARLEWFEGQASNPNRFFKKTNLSSSHFLEENQV
RSHLHRKLNLMESSLVSLLEEIELIFGEPVIFKGRPYLDKMKSDKVEMLYWLQQQRRVRHLVSA
LKDPHQSTLFRSSAASL

hide sequence

Ensembl Acc Id:

ENSP00000328487 ⟸ ENST00000333861

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NVE4-F1-model_v2	AlphaFold	Q9NVE4	1-849	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25579	AgrOrtholog
COSMIC	CCDC87	COSMIC
Ensembl Genes	ENSG00000182791	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000333861	ENTREZGENE
	ENST00000333861.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.58.1520	UniProtKB/Swiss-Prot
GTEx	ENSG00000182791	GTEx
HGNC ID	HGNC:25579	ENTREZGENE
Human Proteome Map	CCDC87	Human Proteome Map
InterPro	CCDC87	UniProtKB/Swiss-Prot
KEGG Report	hsa:55231	UniProtKB/Swiss-Prot
NCBI Gene	55231	ENTREZGENE
PANTHER	COILED-COIL DOMAIN-CONTAINING PROTEIN 87	UniProtKB/Swiss-Prot
	PTHR16078	UniProtKB/Swiss-Prot
Pfam	MAP65_ASE1	UniProtKB/Swiss-Prot
PharmGKB	PA144596455	PharmGKB
UniProt	CCD87_HUMAN	UniProtKB/Swiss-Prot
	Q8NE76	ENTREZGENE
	Q9NVE4	ENTREZGENE
UniProt Secondary	Q8NE76	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

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar