CMTM5 (CKLF like MARVEL transmembrane domain containing 5)

Gene: CMTM5 (CKLF like MARVEL transmembrane domain containing 5) Homo sapiens

Analyze

Symbol:

CMTM5

Name:

CKLF like MARVEL transmembrane domain containing 5

RGD ID:

1316008

HGNC Page

HGNC:19176

Description:

Predicted to enable cytokine activity. Predicted to be involved in chemotaxis and signal transduction. Predicted to act upstream of or within negative regulation of myoblast differentiation. Predicted to be located in extracellular space and membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

chemokine-like factor super family 5; chemokine-like factor superfamily member 5; CKLF-like MARVEL transmembrane domain containing 5; CKLF-like MARVEL transmembrane domain-containing protein 5; CKLFSF5; FLJ37521

RGD Orthologs

Alliance Genes

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	14	23,376,771 - 23,379,772 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	23,376,773 - 23,379,772 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	23,846,255 - 23,848,981 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	22,915,857 - 22,918,821 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	22,915,856 - 22,918,821	NCBI
Celera	14	3,708,728 - 3,711,692 (+)	NCBI		Celera
Cytogenetic Map	14	q11.2	NCBI
HuRef	14	3,962,436 - 3,965,399 (+)	NCBI		HuRef
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	17,577,688 - 17,580,788 (+)	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)

genetic disease (IAGP)

lysinuric protein intolerance (IAGP)

Specific Granule Deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (ISO)

1,2-dimethylhydrazine (ISO)

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

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

6-propyl-2-thiouracil (ISO)

amitrole (ISO)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

carbamazepine (EXP)

clothianidin (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

entinostat (EXP)

ethanol (ISO)

folic acid (ISO)

ketamine (ISO)

methimazole (ISO)

methylmercury chloride (EXP)

morphine (ISO)

nicotine (ISO)

nitrofen (ISO)

pentanal (EXP)

perfluorohexanesulfonic acid (ISO)

phenylmercury acetate (EXP)

pirinixic acid (EXP,ISO)

SB 431542 (EXP)

sulfadimethoxine (ISO)

triclosan (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chemotaxis (IEA)

negative regulation of myoblast differentiation (IEA,ISO)

signal transduction (IEA)

Cellular Component

extracellular space (IEA)

membrane (IBA,IEA)

Molecular Function

cytokine activity (IEA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12782130	PMID:14702039	PMID:15489334	PMID:17207965	PMID:17908965	PMID:19124004	PMID:19577543	PMID:20356458	PMID:20416169	PMID:20721248	PMID:21168207
PMID:21516116	PMID:21841490	PMID:21873635	PMID:24623722	PMID:24721428	PMID:24722188	PMID:25387568	PMID:25416956	PMID:25910212	PMID:26871637	PMID:27107014	PMID:28457985
PMID:29691981	PMID:29892012	PMID:30614533	PMID:30704230	PMID:31515488	PMID:32296183	PMID:32568178	PMID:33047719	PMID:33331317	PMID:33660365	PMID:33961781	PMID:34791506
PMID:36949045

Genomics

Comparative Map Data

CMTM5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	23,376,771 - 23,379,772 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	23,376,773 - 23,379,772 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	23,846,255 - 23,848,981 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	22,915,857 - 22,918,821 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	22,915,856 - 22,918,821	NCBI
Celera	14	3,708,728 - 3,711,692 (+)	NCBI		Celera
Cytogenetic Map	14	q11.2	NCBI
HuRef	14	3,962,436 - 3,965,399 (+)	NCBI		HuRef
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	17,577,688 - 17,580,788 (+)	NCBI		T2T-CHM13v2.0

Cmtm5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	55,173,927 - 55,176,734 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	55,173,718 - 55,176,731 (+)	Ensembl		GRCm39 Ensembl
GRCm38	14	54,936,176 - 54,943,045 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	54,936,261 - 54,939,274 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	55,555,307 - 55,558,114 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	53,890,679 - 53,893,486 (+)	NCBI		MGSCv36	mm8
Celera	14	52,742,660 - 52,745,257 (+)	NCBI		Celera
Cytogenetic Map	14	C3	NCBI
cM Map	14	28.0	NCBI

Cmtm5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	32,382,171 - 32,385,288 (+)	NCBI		GRCr8
mRatBN7.2	15	28,412,624 - 28,415,304 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	28,412,624 - 28,415,287 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	30,258,294 - 30,260,974 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	31,405,496 - 31,408,176 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	29,648,215 - 29,650,895 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	33,600,016 - 33,602,839 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	33,600,102 - 33,602,834 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	37,487,105 - 37,489,785 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	33,038,905 - 33,041,691 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	33,054,563 - 33,057,392 (+)	NCBI
Celera	15	27,990,429 - 27,993,109 (+)	NCBI		Celera
Cytogenetic Map	15	p13	NCBI

Cmtm5
(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	36,957,584 - 36,960,534 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955409	36,957,584 - 36,960,534 (-)	NCBI	ChiLan1.0	ChiLan1.0

CMTM5
(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	24,808,112 - 24,811,022 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	24,024,607 - 24,027,512 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	4,195,460 - 4,198,422 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	22,290,090 - 22,292,876 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	22,290,354 - 22,292,592 (+)	Ensembl	panpan1.1		panPan2

CMTM5
(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	3,625,246 - 3,627,964 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	3,625,309 - 3,661,444 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	3,573,221 - 3,576,174 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	3,732,741 - 3,735,692 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	3,725,891 - 3,747,853 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	3,424,297 - 3,427,248 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	3,485,573 - 3,488,727 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	3,747,768 - 3,750,729 (+)	NCBI		UU_Cfam_GSD_1.0

Cmtm5
(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	35,392,571 - 35,403,267 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936722	993,877 - 996,383 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936722	993,755 - 996,362 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CMTM5
(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	75,701,741 - 75,710,003 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	75,707,132 - 75,709,809 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	81,031,069 - 81,033,746 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CMTM5
(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	29	23,748,110 - 23,751,036 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	29	23,748,548 - 23,750,651 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	22,667,766 - 22,671,001 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cmtm5
(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	9,185,305 - 9,188,477 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624820	9,185,467 - 9,188,333 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CMTM5
13 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	copy number gain	See cases [RCV000050914]	Chr14:20151149..23442195 [GRCh38] Chr14:20619308..23911404 [GRCh37] Chr14:19689148..22981244 [NCBI36] Chr14:14q11.2	pathogenic
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(chr14:23260803-23763521)x3	copy number gain	See cases [RCV000052058]	Chr14:23260803..23763521 [GRCh38] Chr14:23730012..24232730 [GRCh37] Chr14:22799852..23302570 [NCBI36] Chr14:14q11.2	uncertain significance
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_022789.3(IL25):c.6G>A (p.Arg2=)	single nucleotide variant	Malignant melanoma [RCV000070497]	Chr14:23373124 [GRCh38] Chr14:23842333 [GRCh37] Chr14:22912173 [NCBI36] Chr14:14q11.2	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 14q11.2-32.33(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(chr14:19794561-27768254)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 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	copy number loss	not provided [RCV000683589]	Chr14:23840034..24057640 [GRCh37] Chr14:14q11.2	uncertain significance
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
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
NM_001288746.2(CMTM5):c.129C>T (p.Ala43=)	single nucleotide variant	not provided [RCV000971401]	Chr14:23378351 [GRCh38] Chr14:23847560 [GRCh37] Chr14:14q11.2	benign
NM_001288746.2(CMTM5):c.222C>G (p.Leu74=)	single nucleotide variant	not provided [RCV000971402]	Chr14:23378444 [GRCh38] Chr14:23847653 [GRCh37] Chr14:14q11.2	benign
GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	copy number gain	not provided [RCV000856644]	Chr14:21717093..24027220 [GRCh37] Chr14:14q11.2	likely 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 14q11.2-21.1(chr14:20511672-42881888)x3	copy number gain	not provided [RCV001249358]	Chr14:20511672..42881888 [GRCh37] Chr14:14q11.2-21.1	not provided
NC_000014.8:g.(?_23586696)_(23902941_?)del	deletion	Specific granule deficiency [RCV003107481]	Chr14:23586696..23902941 [GRCh37] Chr14:14q11.2	pathogenic
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
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_001288746.2(CMTM5):c.23G>A (p.Arg8Gln)	single nucleotide variant	Inborn genetic diseases [RCV003253140]	Chr14:23377274 [GRCh38] Chr14:23846483 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.134C>A (p.Thr45Asn)	single nucleotide variant	Inborn genetic diseases [RCV002924689]	Chr14:23378356 [GRCh38] Chr14:23847565 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.70G>A (p.Ala24Thr)	single nucleotide variant	Inborn genetic diseases [RCV002692292]	Chr14:23377321 [GRCh38] Chr14:23846530 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.649G>A (p.Ala217Thr)	single nucleotide variant	Inborn genetic diseases [RCV002888847]	Chr14:23379374 [GRCh38] Chr14:23848583 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.250C>T (p.Arg84Cys)	single nucleotide variant	Inborn genetic diseases [RCV002767459]	Chr14:23378472 [GRCh38] Chr14:23847681 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.499A>T (p.Ser167Cys)	single nucleotide variant	Inborn genetic diseases [RCV002669399]	Chr14:23379049 [GRCh38] Chr14:23848258 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.547C>T (p.Arg183Trp)	single nucleotide variant	Inborn genetic diseases [RCV002988277]	Chr14:23379097 [GRCh38] Chr14:23848306 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.121G>A (p.Glu41Lys)	single nucleotide variant	Inborn genetic diseases [RCV003190764]	Chr14:23377372 [GRCh38] Chr14:23846581 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.188C>T (p.Ala63Val)	single nucleotide variant	Inborn genetic diseases [RCV003179092]	Chr14:23378410 [GRCh38] Chr14:23847619 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001288746.2(CMTM5):c.142A>C (p.Ile48Leu)	single nucleotide variant	Inborn genetic diseases [RCV003385632]	Chr14:23378364 [GRCh38] Chr14:23847573 [GRCh37] Chr14:14q11.2	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

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2174
Count of miRNA genes:	505
Interacting mature miRNAs:	571
Transcripts:	ENST00000339180, ENST00000342473, ENST00000359320, ENST00000382809, ENST00000397227, ENST00000553750, ENST00000555487, ENST00000555731
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.

Markers in Region

RH92419

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	23,848,768 - 23,848,912	UniSTS	GRCh37
Build 36	14	22,918,608 - 22,918,752	RGD	NCBI36
Celera	14	3,711,479 - 3,711,623	RGD
Cytogenetic Map	14	q11.2	UniSTS
HuRef	14	3,965,186 - 3,965,330	UniSTS
GeneMap99-GB4 RH Map	14	20.64	UniSTS

IL17E_757

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	23,844,958 - 23,845,624	UniSTS	GRCh37
Build 36	14	22,914,798 - 22,915,464	RGD	NCBI36
Celera	14	3,707,669 - 3,708,335	RGD
HuRef	14	3,961,377 - 3,962,043	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

281

759

321

725

276

2975

694

Low

1640

2132

730

121

843

2647

1676

596

677

983

100

762

1699

Below cutoff

335

753

313

181

250

919

209

195

527

345

417

391

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001037288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_138460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047430907	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054375326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054375327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF479262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF527413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF527414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF527948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF527949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289886	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX058630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX405940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY820135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029729	(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
	CQ893587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000339180 ⟹ ENSP00000344819

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,046 - 23,379,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000342473 ⟹ ENSP00000344160

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,037 - 23,379,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000359320 ⟹ ENSP00000352270

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,376,808 - 23,379,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000382809 ⟹ ENSP00000372259

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,252 - 23,379,487 (+)	Ensembl

RefSeq Acc Id:

ENST00000397227 ⟹ ENSP00000380404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,037 - 23,379,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000553750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,047 - 23,379,771 (+)	Ensembl

RefSeq Acc Id:

ENST00000555487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,919 - 23,379,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000555731 ⟹ ENSP00000451514

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,377,063 - 23,379,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000649278 ⟹ ENSP00000497215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	23,376,773 - 23,379,669 (+)	Ensembl

RefSeq Acc Id:

NM_001037288 ⟹ NP_001032365

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,377,046 - 23,379,772 (+)	NCBI
GRCh37	14	23,846,017 - 23,848,981 (+)	RGD
Build 36	14	22,915,857 - 22,918,821 (+)	NCBI Archive
Celera	14	3,708,728 - 3,711,692 (+)	RGD
HuRef	14	3,962,436 - 3,965,399 (+)	RGD
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI
T2T-CHM13v2.0	14	17,578,062 - 17,580,788 (+)	NCBI

Sequence:

show sequence

ACTCTGGGCAGCTGGGTGAGGGCCCATCTGGGCAAGGCCCCCAGCGCCTGCCTTCTCTCCCGGG
GCCCTGTGGGCAAGCCTCCTGCTTCACTTTCAGGTTTCTCGAAGTGCCTTCTTGCTCCTGTCTG
TTTCCCCATCCTGCCAGATTTCTGTTTCTCTTGCTGGGCTTTTGGCAGTAGGGGGCTGTGTTGG
TGGGCCCTACGAAGATGCTCAGTGCTCGAGATCGCCGGGACCGGCACCCTGAGGAGGGGGTAGT
TGCAGAGCTCCAGGGCTTCGCGGTGGACAAGGCCTTCCTCACCTCCCACAAGGGCATCCTGCTG
GAAACCGAGCTGGCCCTGACCCTCATCATCTTCATCTGCTTCACGGCCTCCATCTCTGCCTACA
TGGCCGCGGCGCTACTGGAGTTCTTCATCACACTTGCCTTCCTCTTCCTCTATGCCACCCAGTA
CTACCAGCGCTTCGACCGAATTAACTGGCCCTGTCTGGTTTTTGGCATCATCCTGGTTTCCATC
TTTGCCTATGATGCCTTCAAGATCTACCGGACTGAGATGGCACCCGGGGCCAGCCAGGGGGACC
AGCAGTGACTCTGGGGCTACCTGGCTCCTAGGCCCAGCCAGCCAGAGAGGACAGTGGAGCCCAG
ACACGTCTCCTTGGGATTCACTAGCCCCCAGCCCGCCAAACCCCACCCCAGCCCTACACAGCAG
TCTGGCCTGAGACGTCACTGGGGACTTATCTGTGGAGCCTGGTGCTCCAGGATGTGGCTTCTCA
TGAAGCTCTGGCCAGAGGAGGGGAACTTATTGGGGGAGGGGGGGTGGAGGGGAGGAATCTGGAC
CTCTAAGTCATTCCCAAATTAAAATATTCAAATTCTA

hide sequence

RefSeq Acc Id:

NM_001288744 ⟹ NP_001275673

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,377,046 - 23,379,772 (+)	NCBI
HuRef	14	3,962,436 - 3,965,399 (+)	NCBI
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI
T2T-CHM13v2.0	14	17,578,062 - 17,580,788 (+)	NCBI

Sequence:

show sequence

ACTCTGGGCAGCTGGGTGAGGGCCCATCTGGGCAAGGCCCCCAGCGCCTGCCTTCTCTCCCGGG
GCCCTGTGGGCAAGCCTCCTGCTTCACTTTCAGGTTTCTCGAAGTGCCTTCTTGCTCCTGTCTG
TTTCCCCATCCTGCCAGATTTCTGTTTCTCTTGCTGGGCTTTTGGCAGTAGGGGGCTGTGTTGG
TGGGCCCTACGAAGATGCTCAGTGCTCGAGATCGCCGGGACCGGCACCCTGAGGAGGGGGTAGT
TGCAGAGCTCCAGGGCTTCGCGGTGGACAAGGCCTTCCTCACCTCCCACAAGGGCATCCTGCTG
GAAACCGAGCTGGACTTCCTGCGCTGTGTCAGTGCCATCATCATCTTCCTGGTGGTCTCCTTTG
CAGCTGTGACCTCCCGGGACGGAGCTGCCATTGCTGCTTTTGTTTTTGGCATCATCCTGGTTTC
CATCTTTGCCTATGATGCCTTCAAGATCTACCGGACTGAGATGGCACCCGGGGCCAGCCAGGGG
GACCAGCAGTGACTCTGGGGCTACCTGGCTCCTAGGCCCAGCCAGCCAGAGAGGACAGTGGAGC
CCAGACACGTCTCCTTGGGATTCACTAGCCCCCAGCCCGCCAAACCCCACCCCAGCCCTACACA
GCAGTCTGGCCTGAGACGTCACTGGGGACTTATCTGTGGAGCCTGGTGCTCCAGGATGTGGCTT
CTCATGAAGCTCTGGCCAGAGGAGGGGAACTTATTGGGGGAGGGGGGGTGGAGGGGAGGAATCT
GGACCTCTAAGTCATTCCCAAATTAAAATATTCAAATTCTA

hide sequence

RefSeq Acc Id:

NM_001288745 ⟹ NP_001275674

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,377,046 - 23,379,772 (+)	NCBI
HuRef	14	3,962,436 - 3,965,399 (+)	NCBI
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI
T2T-CHM13v2.0	14	17,578,062 - 17,580,788 (+)	NCBI

Sequence:

show sequence

ACTCTGGGCAGCTGGGTGAGGGCCCATCTGGGCAAGGCCCCCAGCGCCTGCCTTCTCTCCCGGG
GCCCTGTGGGCAAGCCTCCTGCTTCACTTTCAGGTTTCTCGAAGTGCCTTCTTGCTCCTGTCTG
TTTCCCCATCCTGCCAGATTTCTGTTTCTCTTGCTGGGCTTTTGGCAGTAGGGGGCTGTGTTGG
TGGGCCCTACGAAGATGCTCAGTGCTCGAGATCGCCGGGACCGGCACCCTGAGGAGGGGGTAGT
TGCAGAGCTCCAGGGCTTCGCGGTGGACAAGGCCTTCCTCACCTCCCACAAGGGCATCCTGCTG
GAAACCGAGCTGGTTTTTGGCATCATCCTGGTTTCCATCTTTGCCTATGATGCCTTCAAGATCT
ACCGGACTGAGATGGCACCCGGGGCCAGCCAGGGGGACCAGCAGTGACTCTGGGGCTACCTGGC
TCCTAGGCCCAGCCAGCCAGAGAGGACAGTGGAGCCCAGACACGTCTCCTTGGGATTCACTAGC
CCCCAGCCCGCCAAACCCCACCCCAGCCCTACACAGCAGTCTGGCCTGAGACGTCACTGGGGAC
TTATCTGTGGAGCCTGGTGCTCCAGGATGTGGCTTCTCATGAAGCTCTGGCCAGAGGAGGGGAA
CTTATTGGGGGAGGGGGGGTGGAGGGGAGGAATCTGGACCTCTAAGTCATTCCCAAATTAAAAT
ATTCAAATTCTA

hide sequence

RefSeq Acc Id:

NM_001288746 ⟹ NP_001275675

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,377,046 - 23,379,772 (+)	NCBI
HuRef	14	3,962,436 - 3,965,399 (+)	NCBI
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI
T2T-CHM13v2.0	14	17,578,062 - 17,580,788 (+)	NCBI

Sequence:

show sequence

ACTCTGGGCAGCTGGGTGAGGGCCCATCTGGGCAAGGCCCCCAGCGCCTGCCTTCTCTCCCGGG
GCCCTGTGGGCAAGCCTCCTGCTTCACTTTCAGGTTTCTCGAAGTGCCTTCTTGCTCCTGTCTG
TTTCCCCATCCTGCCAGATTTCTGTTTCTCTTGCTGGGCTTTTGGCAGTAGGGGGCTGTGTTGG
TGGGCCCTACGAAGATGCTCAGTGCTCGAGATCGCCGGGACCGGCACCCTGAGGAGGGGGTAGT
TGCAGAGCTCCAGGGCTTCGCGGTGGACAAGGCCTTCCTCACCTCCCACAAGGGCATCCTGCTG
GAAACCGAGCTGGCCCTGACCCTCATCATCTTCATCTGCTTCACGGCCTCCATCTCTGCCTACA
TGGCCGCGGCGCTACTGGAGTTCTTCATCACACTTGCCTTCCTCTTCCTCTATGCCACCCAGTA
CTACCAGCGCTTCGACCGAATTAACTGGCCCTGTCTGCTGCAGGGCCACGGGCAATCAGGAGGA
CCACATCCGCTAGATCTACTCTCCCACTCAGCAAAGGTCCAGCCCCAGCCCTGGCCTGGCTTGA
CCCCCCCGGGCTGGCATACTCCAGCCGCTGTCCCCTGGGTTCCAGCCCCAGCGCCTGGCTTCTG
GTCCTGGTTGCTCTGGTTCATCTGCTTCCACTCCCTGGGTAGCAGTGACTTCCTGCGCTGTGTC
AGTGCCATCATCATCTTCCTGGTGGTCTCCTTTGCAGCTGTGACCTCCCGGGACGGAGCTGCCA
TTGCTGCTTTTGTTTTTGGCATCATCCTGGTTTCCATCTTTGCCTATGATGCCTTCAAGATCTA
CCGGACTGAGATGGCACCCGGGGCCAGCCAGGGGGACCAGCAGTGACTCTGGGGCTACCTGGCT
CCTAGGCCCAGCCAGCCAGAGAGGACAGTGGAGCCCAGACACGTCTCCTTGGGATTCACTAGCC
CCCAGCCCGCCAAACCCCACCCCAGCCCTACACAGCAGTCTGGCCTGAGACGTCACTGGGGACT
TATCTGTGGAGCCTGGTGCTCCAGGATGTGGCTTCTCATGAAGCTCTGGCCAGAGGAGGGGAAC
TTATTGGGGGAGGGGGGGTGGAGGGGAGGAATCTGGACCTCTAAGTCATTCCCAAATTAAAATA
TTCAAATTCTA

hide sequence

RefSeq Acc Id:

NM_138460 ⟹ NP_612469

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,377,046 - 23,379,772 (+)	NCBI
GRCh37	14	23,846,017 - 23,848,981 (+)	RGD
Build 36	14	22,915,857 - 22,918,821 (+)	NCBI Archive
Celera	14	3,708,728 - 3,711,692 (+)	RGD
HuRef	14	3,962,436 - 3,965,399 (+)	RGD
CHM1_1	14	23,844,689 - 23,847,653 (+)	NCBI
T2T-CHM13v2.0	14	17,578,062 - 17,580,788 (+)	NCBI

Sequence:

show sequence

ACTCTGGGCAGCTGGGTGAGGGCCCATCTGGGCAAGGCCCCCAGCGCCTGCCTTCTCTCCCGGG
GCCCTGTGGGCAAGCCTCCTGCTTCACTTTCAGGTTTCTCGAAGTGCCTTCTTGCTCCTGTCTG
TTTCCCCATCCTGCCAGATTTCTGTTTCTCTTGCTGGGCTTTTGGCAGTAGGGGGCTGTGTTGG
TGGGCCCTACGAAGATGCTCAGTGCTCGAGATCGCCGGGACCGGCACCCTGAGGAGGGGGTAGT
TGCAGAGCTCCAGGGCTTCGCGGTGGACAAGGCCTTCCTCACCTCCCACAAGGGCATCCTGCTG
GAAACCGAGCTGGCCCTGACCCTCATCATCTTCATCTGCTTCACGGCCTCCATCTCTGCCTACA
TGGCCGCGGCGCTACTGGAGTTCTTCATCACACTTGCCTTCCTCTTCCTCTATGCCACCCAGTA
CTACCAGCGCTTCGACCGAATTAACTGGCCCTGTCTGGACTTCCTGCGCTGTGTCAGTGCCATC
ATCATCTTCCTGGTGGTCTCCTTTGCAGCTGTGACCTCCCGGGACGGAGCTGCCATTGCTGCTT
TTGTTTTTGGCATCATCCTGGTTTCCATCTTTGCCTATGATGCCTTCAAGATCTACCGGACTGA
GATGGCACCCGGGGCCAGCCAGGGGGACCAGCAGTGACTCTGGGGCTACCTGGCTCCTAGGCCC
AGCCAGCCAGAGAGGACAGTGGAGCCCAGACACGTCTCCTTGGGATTCACTAGCCCCCAGCCCG
CCAAACCCCACCCCAGCCCTACACAGCAGTCTGGCCTGAGACGTCACTGGGGACTTATCTGTGG
AGCCTGGTGCTCCAGGATGTGGCTTCTCATGAAGCTCTGGCCAGAGGAGGGGAACTTATTGGGG
GAGGGGGGGTGGAGGGGAGGAATCTGGACCTCTAAGTCATTCCCAAATTAAAATATTCAAATTC
TA

hide sequence

RefSeq Acc Id:

XM_047430906 ⟹ XP_047286862

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,376,771 - 23,379,772 (+)	NCBI

RefSeq Acc Id:

XM_047430907 ⟹ XP_047286863

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,376,771 - 23,379,772 (+)	NCBI

RefSeq Acc Id:

XM_054375326 ⟹ XP_054231301

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	17,577,688 - 17,580,788 (+)	NCBI

RefSeq Acc Id:

XM_054375327 ⟹ XP_054231302

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	17,577,830 - 17,580,788 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001032365	(Get FASTA)	NCBI Sequence Viewer
	NP_001275673	(Get FASTA)	NCBI Sequence Viewer
	NP_001275674	(Get FASTA)	NCBI Sequence Viewer
	NP_001275675	(Get FASTA)	NCBI Sequence Viewer
	NP_612469	(Get FASTA)	NCBI Sequence Viewer
	XP_047286862	(Get FASTA)	NCBI Sequence Viewer
	XP_047286863	(Get FASTA)	NCBI Sequence Viewer
	XP_054231301	(Get FASTA)	NCBI Sequence Viewer
	XP_054231302	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH13109	(Get FASTA)	NCBI Sequence Viewer
	AAN73040	(Get FASTA)	NCBI Sequence Viewer
	AAQ08985	(Get FASTA)	NCBI Sequence Viewer
	AAQ08986	(Get FASTA)	NCBI Sequence Viewer
	AAQ09008	(Get FASTA)	NCBI Sequence Viewer
	AAQ09009	(Get FASTA)	NCBI Sequence Viewer
	AAV69870	(Get FASTA)	NCBI Sequence Viewer
	BAC04432	(Get FASTA)	NCBI Sequence Viewer
	BAF82575	(Get FASTA)	NCBI Sequence Viewer
	CAC22530	(Get FASTA)	NCBI Sequence Viewer
	CAD35047	(Get FASTA)	NCBI Sequence Viewer
	CAH68715	(Get FASTA)	NCBI Sequence Viewer
	EAW66156	(Get FASTA)	NCBI Sequence Viewer
	EAW66157	(Get FASTA)	NCBI Sequence Viewer
	EAW66158	(Get FASTA)	NCBI Sequence Viewer
	EAW66159	(Get FASTA)	NCBI Sequence Viewer
	EAW66160	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000344160
	ENSP00000344160.4
	ENSP00000344819
	ENSP00000344819.4
	ENSP00000352270
	ENSP00000352270.3
	ENSP00000372259
	ENSP00000372259.2
	ENSP00000380404
	ENSP00000380404.3
	ENSP00000451514.1
	ENSP00000497215
	ENSP00000497215.1
GenBank Protein	Q96DZ9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_612469 ⟸ NM_138460
- Peptide Label:	isoform a
- UniProtKB:	Q96DZ9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLSARDRRDRHPEEGVVAELQGFAVDKAFLTSHKGILLETELALTLIIFICFTASISAYMAAAL LEFFITLAFLFLYATQYYQRFDRINWPCLDFLRCVSAIIIFLVVSFAAVTSRDGAAIAAFVFGI ILVSIFAYDAFKIYRTEMAPGASQGDQQ hide sequence

RefSeq Acc Id:	NP_001032365 ⟸ NM_001037288
- Peptide Label:	isoform c
- UniProtKB:	Q96DZ9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLSARDRRDRHPEEGVVAELQGFAVDKAFLTSHKGILLETELALTLIIFICFTASISAYMAAAL LEFFITLAFLFLYATQYYQRFDRINWPCLVFGIILVSIFAYDAFKIYRTEMAPGASQGDQQ hide sequence

RefSeq Acc Id:	NP_001275675 ⟸ NM_001288746
- Peptide Label:	isoform f
- UniProtKB:	E9PH91 (UniProtKB/Swiss-Prot), Q5PY48 (UniProtKB/Swiss-Prot), Q96DZ9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLSARDRRDRHPEEGVVAELQGFAVDKAFLTSHKGILLETELALTLIIFICFTASISAYMAAAL LEFFITLAFLFLYATQYYQRFDRINWPCLLQGHGQSGGPHPLDLLSHSAKVQPQPWPGLTPPGW HTPAAVPWVPAPAPGFWSWLLWFICFHSLGSSDFLRCVSAIIIFLVVSFAAVTSRDGAAIAAFV FGIILVSIFAYDAFKIYRTEMAPGASQGDQQ hide sequence

RefSeq Acc Id:	NP_001275673 ⟸ NM_001288744
- Peptide Label:	isoform d
- UniProtKB:	C9JAI6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLSARDRRDRHPEEGVVAELQGFAVDKAFLTSHKGILLETELDFLRCVSAIIIFLVVSFAAVTS RDGAAIAAFVFGIILVSIFAYDAFKIYRTEMAPGASQGDQQ hide sequence

RefSeq Acc Id:	NP_001275674 ⟸ NM_001288745
- Peptide Label:	isoform e
- UniProtKB:	Q96DZ9 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLSARDRRDRHPEEGVVAELQGFAVDKAFLTSHKGILLETELVFGIILVSIFAYDAFKIYRTEM APGASQGDQQ hide sequence

RefSeq Acc Id:

ENSP00000451514 ⟸ ENST00000555731

RefSeq Acc Id:

ENSP00000352270 ⟸ ENST00000359320

RefSeq Acc Id:

ENSP00000497215 ⟸ ENST00000649278

RefSeq Acc Id:

ENSP00000344819 ⟸ ENST00000339180

RefSeq Acc Id:

ENSP00000344160 ⟸ ENST00000342473

RefSeq Acc Id:

ENSP00000372259 ⟸ ENST00000382809

RefSeq Acc Id:

ENSP00000380404 ⟸ ENST00000397227

RefSeq Acc Id:	XP_047286863 ⟸ XM_047430907
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_047286862 ⟸ XM_047430906
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054231301 ⟸ XM_054375326
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054231302 ⟸ XM_054375327
- Peptide Label:	isoform X1

Protein Domains

MARVEL

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96DZ9-F1-model_v2	AlphaFold	Q96DZ9	1-223	view protein structure

Promoters

RGD ID:

7227161

Promoter ID:

EPDNEW_H19327

Type:

initiation region

Name:

CMTM5_2

Description:

CKLF like MARVEL transmembrane domain containing 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19328

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,376,636 - 23,376,696	EPDNEW

RGD ID:

7227167

Promoter ID:

EPDNEW_H19328

Type:

initiation region

Name:

CMTM5_1

Description:

CKLF like MARVEL transmembrane domain containing 5

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H19327

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	23,377,046 - 23,377,106	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19176	AgrOrtholog
COSMIC	CMTM5	COSMIC
Ensembl Genes	ENSG00000166091	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000339180	ENTREZGENE
	ENST00000339180.9	UniProtKB/Swiss-Prot
	ENST00000342473	ENTREZGENE
	ENST00000342473.8	UniProtKB/Swiss-Prot
	ENST00000359320	ENTREZGENE
	ENST00000359320.7	UniProtKB/Swiss-Prot
	ENST00000382809	ENTREZGENE
	ENST00000382809.2	UniProtKB/Swiss-Prot
	ENST00000397227	ENTREZGENE
	ENST00000397227.7	UniProtKB/Swiss-Prot
	ENST00000555731.5	UniProtKB/TrEMBL
	ENST00000649278	ENTREZGENE
	ENST00000649278.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000166091	GTEx
HGNC ID	HGNC:19176	ENTREZGENE
Human Proteome Map	CMTM5	Human Proteome Map
InterPro	Marvel	UniProtKB/Swiss-Prot
KEGG Report	hsa:116173	UniProtKB/Swiss-Prot
NCBI Gene	116173	ENTREZGENE
OMIM	607888	OMIM
PANTHER	CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING PROTEIN 5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MARVEL-CONTAINING POTENTIAL LIPID RAFT-ASSOCIATED PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	MARVEL	UniProtKB/Swiss-Prot
PharmGKB	PA38815	PharmGKB
PROSITE	MARVEL	UniProtKB/Swiss-Prot
UniProt	C9JAI6	ENTREZGENE, UniProtKB/TrEMBL
	CKLF5_HUMAN	UniProtKB/Swiss-Prot
	E9PH91	ENTREZGENE
	Q5PY48	ENTREZGENE
	Q8N1V5_HUMAN	UniProtKB/TrEMBL
	Q96DZ9	ENTREZGENE
UniProt Secondary	E9PH91	UniProtKB/Swiss-Prot
	Q5PY48	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-02	CMTM5	CKLF like MARVEL transmembrane domain containing 5	CMTM5	CKLF-like MARVEL transmembrane domain containing 5	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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