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Gene: POTEM (POTE ankyrin domain family member M) Homo sapiens

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Symbol:

POTEM

Name:

POTE ankyrin domain family member M

RGD ID:

3378638

HGNC Page

HGNC:37096

Description:

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ACT; actin-like; ANKRD26-like family C member ENSP00000349402; P704P; POTE ankyrin domain family, member M; POTE14beta; prostate-specific P704P; putative POTE ankyrin domain family member M

RGD Orthologs

Mouse

Rat

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	14	18,967,434 - 19,003,752 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	18,967,434 - 19,003,752 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	14	19,983,954 - 20,020,272 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	19,057,551 - 19,090,272 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Cytogenetic Map	14	q11.2	NCBI
CHM1_1	14	19,984,647 - 20,020,421 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	13,280,571 - 13,316,879 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

uterine corpus endometrial carcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2-methylcholine (EXP)

antimycin A (EXP)

atrazine (ISO)

bisphenol A (EXP)

butanal (EXP)

cadmium dichloride (EXP)

calcitriol (EXP)

copper atom (EXP)

copper(0) (EXP)

DDT (ISO)

entinostat (EXP)

hydrogen peroxide (EXP)

ketamine (ISO)

mocetinostat (EXP)

N,N-diethyl-m-toluamide (ISO)

okadaic acid (EXP)

permethrin (ISO)

propanal (EXP)

resveratrol (EXP)

silicon dioxide (EXP)

tacedinaline (EXP)

testosterone (EXP)

tunicamycin (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vorinostat (EXP)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:12508121	PMID:16364570	PMID:16824795	PMID:31586073	PMID:34644545

Genomics

Comparative Map Data

POTEM
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	18,967,434 - 19,003,752 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	18,967,434 - 19,003,752 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	14	19,983,954 - 20,020,272 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	19,057,551 - 19,090,272 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Cytogenetic Map	14	q11.2	NCBI
CHM1_1	14	19,984,647 - 20,020,421 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	14	13,280,571 - 13,316,879 (+)	NCBI		T2T-CHM13v2.0

9530057J20Rik
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	20,478,979 - 20,510,931 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	20,661,506 - 20,663,833 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm39 Ensembl	8	20,478,993 - 20,501,314 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	8	19,903,378 - 19,935,330 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	19,903,392 - 19,925,713 (+)	NCBI		GRCm38.p6 Ensembl	mm10	GRCm38
Cytogenetic Map	8	A2	NCBI

Potem
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	20,985,842 - 21,010,108 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	16	20,986,905 - 21,028,064 (+)	Ensembl				GRCr8
mRatBN7.2	16	20,193,646 - 20,311,924 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	19,949,230 - 19,976,541 (+)	Ensembl				mRatBN7.2
Rnor_6.0	16	21,947,702 - 22,118,777 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	21,955,168 - 22,116,834 (-)	Ensembl		Rnor_6.0 Ensembl	rn6	Rnor6.0
Rnor_5.0	16	22,013,859 - 22,019,946 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	16	20,434,396 - 20,464,795 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	16	20,115,727 - 20,147,515 (+)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

Variants

Variants in POTEM
62 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q11.2(chr14:18907993-19498584)x3	copy number gain	Abnormality of the cerebrum [RCV000052055]	Chr14:14q11.2	pathogenic\|benign\|uncertain significance
GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1	copy number loss	See cases [RCV000136219]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18907993-19298380)x3	copy number gain	See cases [RCV000136292]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18907993-19415424)x1	copy number loss	Autism [RCV000136403]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1	copy number loss	See cases [RCV000136184]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18907993-19259035)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136204]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18907993-19433294)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136352]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18658128-19967729)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136157]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3	copy number gain	See cases [RCV000136168]	Chr14:14q11.2	benign
GRCh38/hg38 14q11.2(chr14:18907993-19386058)x1	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136198]	Chr14:14q11.2	benign
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000446256]	Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000448273]	Chr14:14q11.2-13.1	pathogenic
NM_001145442.1(POTEM):c.283A>G (p.Arg95Gly)	single nucleotide variant	not specified [RCV004282137]	Chr14:18967768 [GRCh38] Chr14:20019938 [GRCh37] Chr14:14q11.2	uncertain significance
Single allele	duplication	Large for gestational age [RCV000161724]	Chr14:19327823..20426742 [GRCh37] Chr14:14q11.2	not provided
Single allele	duplication	Normal pregnancy [RCV000161725]	Chr14:19327823..20626291 [GRCh37] Chr14:14q11.2	not provided
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	copy number gain	not provided [RCV000767822]	Chr14:14q11.2-12	pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	copy number gain	Obsessive-compulsive behavior [RCV000240285]	Chr14:14q11.2-12	pathogenic
NM_001145442.1(POTEM):c.182T>C (p.Met61Thr)	single nucleotide variant	not specified [RCV004318689]	Chr14:18967667 [GRCh38] Chr14:20020039 [GRCh37] Chr14:14q11.2	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_001145442.1(POTEM):c.1184A>G (p.Asn395Ser)	single nucleotide variant	not specified [RCV004313518]	Chr14:18985468 [GRCh38] Chr14:20002238 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.32C>T (p.Ala11Val)	single nucleotide variant	not specified [RCV004187064]	Chr14:18967517 [GRCh38] Chr14:20020189 [GRCh37] Chr14:14q11.2	uncertain significance
GRCh37/hg19 14q11.2(chr14:20005130-20480547)x3	copy number gain	not provided [RCV000738415]	Chr14:20005130..20480547 [GRCh37] Chr14:14q11.2	benign
GRCh37/hg19 14q11.2(chr14:20005130-20482471)x3	copy number gain	not provided [RCV000738416]	Chr14:20005130..20482471 [GRCh37] Chr14:14q11.2	benign
NM_001145442.1(POTEM):c.1449A>G (p.Glu483=)	single nucleotide variant	not provided [RCV004809239]	Chr14:18997080 [GRCh38] Chr14:19990626 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.475G>A (p.Val159Ile)	single nucleotide variant	not specified [RCV004206727]	Chr14:18967960 [GRCh38] Chr14:20019746 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1054G>A (p.Val352Ile)	single nucleotide variant	not specified [RCV004219705]	Chr14:18977602 [GRCh38] Chr14:20010104 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.255C>A (p.Asp85Glu)	single nucleotide variant	not specified [RCV004148570]	Chr14:18967740 [GRCh38] Chr14:20019966 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.443G>C (p.Trp148Ser)	single nucleotide variant	not specified [RCV004184241]	Chr14:18967928 [GRCh38] Chr14:20019778 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.150T>G (p.Asp50Glu)	single nucleotide variant	not specified [RCV004226860]	Chr14:18967635 [GRCh38] Chr14:20020071 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.196C>T (p.Arg66Cys)	single nucleotide variant	not specified [RCV004107685]	Chr14:18967681 [GRCh38] Chr14:20020025 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.153T>G (p.Asp51Glu)	single nucleotide variant	not specified [RCV004089059]	Chr14:18967638 [GRCh38] Chr14:20020068 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.920C>G (p.Thr307Ser)	single nucleotide variant	not specified [RCV004202545]	Chr14:18977468 [GRCh38] Chr14:20010238 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.815G>C (p.Gly272Ala)	single nucleotide variant	not specified [RCV004255874]	Chr14:18976053 [GRCh38] Chr14:20011653 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.486G>C (p.Lys162Asn)	single nucleotide variant	not specified [RCV005704129]	Chr14:18967971 [GRCh38] Chr14:20019735 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.422A>G (p.Asp141Gly)	single nucleotide variant	not specified [RCV005712687]	Chr14:18967907 [GRCh38] Chr14:20019799 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.1484T>C (p.Ile495Thr)	single nucleotide variant	not specified [RCV005704134]	Chr14:18997115 [GRCh38] Chr14:19990591 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.430C>T (p.His144Tyr)	single nucleotide variant	not specified [RCV005712689]	Chr14:18967915 [GRCh38] Chr14:20019791 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.812A>G (p.His271Arg)	single nucleotide variant	not specified [RCV004365069]	Chr14:18976050 [GRCh38] Chr14:20011656 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.147C>T (p.His49=)	single nucleotide variant	not provided [RCV003400559]	Chr14:18967632 [GRCh38] Chr14:20020074 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.344G>A (p.Ser115Asn)	single nucleotide variant	not specified [RCV004664751]	Chr14:18967829 [GRCh38] Chr14:20019877 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.154T>C (p.Ser52Pro)	single nucleotide variant	not specified [RCV004664752]	Chr14:18967639 [GRCh38] Chr14:20020067 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.369C>T (p.Tyr123=)	single nucleotide variant	not provided [RCV005245113]	Chr14:18967854 [GRCh38] Chr14:20019852 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.385A>G (p.Met129Val)	single nucleotide variant	not specified [RCV005260699]	Chr14:18967870 [GRCh38] Chr14:20019836 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1418A>G (p.Gln473Arg)	single nucleotide variant	not specified [RCV005475817]	Chr14:18997049 [GRCh38] Chr14:19990657 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.481C>T (p.Leu161Phe)	single nucleotide variant	not specified [RCV005475818]	Chr14:18967966 [GRCh38] Chr14:20019740 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.*4000G>T	single nucleotide variant	Uterine corpus endometrial carcinoma [RCV006081118]	Chr14:19002665 [GRCh38] Chr14:19985041 [GRCh37] Chr14:14q11.2	evidence_only
NM_001145442.1(POTEM):c.496A>C (p.Met166Leu)	single nucleotide variant	not specified [RCV004220757]	Chr14:18967981 [GRCh38] Chr14:20019725 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.984C>G (p.Asn328Lys)	single nucleotide variant	not specified [RCV004189315]	Chr14:18977532 [GRCh38] Chr14:20010174 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1021G>A (p.Ala341Thr)	single nucleotide variant	not specified [RCV004220500]	Chr14:18977569 [GRCh38] Chr14:20010137 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1301C>G (p.Pro434Arg)	single nucleotide variant	not specified [RCV004197713]	Chr14:18988313 [GRCh38] Chr14:19999393 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.251G>A (p.Gly84Glu)	single nucleotide variant	not specified [RCV004189894]	Chr14:18967736 [GRCh38] Chr14:20019970 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.355C>A (p.Pro119Thr)	single nucleotide variant	not specified [RCV004253606]	Chr14:18967840 [GRCh38] Chr14:20019866 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.406C>T (p.Arg136Cys)	single nucleotide variant	not specified [RCV004252870]	Chr14:18967891 [GRCh38] Chr14:20019815 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.187A>G (p.Lys63Glu)	single nucleotide variant	not specified [RCV004297572]	Chr14:18967672 [GRCh38] Chr14:20020034 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.271A>C (p.Met91Leu)	single nucleotide variant	not specified [RCV005712685]	Chr14:18967756 [GRCh38] Chr14:20019950 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1457C>A (p.Thr486Asn)	single nucleotide variant	not specified [RCV005704131]	Chr14:18997088 [GRCh38] Chr14:19990618 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1163A>G (p.Gln388Arg)	single nucleotide variant	not specified [RCV006304346]	Chr14:18985447 [GRCh38] Chr14:20002259 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.953C>G (p.Ala318Gly)	single nucleotide variant	not specified [RCV005704130]	Chr14:18977501 [GRCh38] Chr14:20010205 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1132G>A (p.Asp378Asn)	single nucleotide variant	not specified [RCV006304345]	Chr14:18985416 [GRCh38] Chr14:20002290 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.115G>A (p.Gly39Ser)	single nucleotide variant	not specified [RCV006304348]	Chr14:18967600 [GRCh38] Chr14:20020106 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.152A>C (p.Asp51Ala)	single nucleotide variant	not specified [RCV006304350]	Chr14:18967637 [GRCh38] Chr14:20020069 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.44A>G (p.Lys15Arg)	single nucleotide variant	not specified [RCV006304341]	Chr14:18967529 [GRCh38] Chr14:20020177 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.665C>T (p.Ala222Val)	single nucleotide variant	not specified [RCV005464474]	Chr14:18973062 [GRCh38] Chr14:20014644 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1000C>G (p.Gln334Glu)	single nucleotide variant	not specified [RCV005464476]	Chr14:18977548 [GRCh38] Chr14:20010158 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1343C>T (p.Pro448Leu)	single nucleotide variant	not specified [RCV005464477]	Chr14:18988355 [GRCh38] Chr14:19999351 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.47A>G (p.Lys16Arg)	single nucleotide variant	not specified [RCV006304340]	Chr14:18967532 [GRCh38] Chr14:20020174 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.355C>T (p.Pro119Ser)	single nucleotide variant	not specified [RCV006304349]	Chr14:18967840 [GRCh38] Chr14:20019866 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1483A>G (p.Ile495Val)	single nucleotide variant	not specified [RCV006304343]	Chr14:18997114 [GRCh38] Chr14:19990592 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1271G>A (p.Ser424Asn)	single nucleotide variant	not specified [RCV006304344]	Chr14:18988283 [GRCh38] Chr14:19999423 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.419T>G (p.Leu140Arg)	single nucleotide variant	not specified [RCV006304347]	Chr14:18967904 [GRCh38] Chr14:20019802 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.348A>C (p.Lys116Asn)	single nucleotide variant	not specified [RCV005475819]	Chr14:18967833 [GRCh38] Chr14:20019873 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.44A>T (p.Lys15Met)	single nucleotide variant	not specified [RCV005704132]	Chr14:18967529 [GRCh38] Chr14:20020177 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1123C>T (p.Pro375Ser)	single nucleotide variant	not specified [RCV005704133]	Chr14:18980141 [GRCh38] Chr14:20007565 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.841C>A (p.His281Asn)	single nucleotide variant	not specified [RCV005712688]	Chr14:18976079 [GRCh38] Chr14:20011627 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.355C>G (p.Pro119Ala)	single nucleotide variant	not specified [RCV005712690]	Chr14:18967840 [GRCh38] Chr14:20019866 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.457C>G (p.Pro153Ala)	single nucleotide variant	not specified [RCV005712691]	Chr14:18967942 [GRCh38] Chr14:20019764 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.1306G>A (p.Gly436Ser)	single nucleotide variant	not specified [RCV005464473]	Chr14:18988318 [GRCh38] Chr14:19999388 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.112A>C (p.Ser38Arg)	single nucleotide variant	not specified [RCV004353833]	Chr14:18967597 [GRCh38] Chr14:20020109 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1327G>A (p.Asp443Asn)	single nucleotide variant	not specified [RCV004514729]	Chr14:18988339 [GRCh38] Chr14:19999367 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1370G>C (p.Ser457Thr)	single nucleotide variant	not specified [RCV004514731]	Chr14:18988382 [GRCh38] Chr14:19999324 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.332G>A (p.Gly111Glu)	single nucleotide variant	not specified [RCV004514738]	Chr14:18967817 [GRCh38] Chr14:20019889 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.469C>T (p.Leu157Phe)	single nucleotide variant	not specified [RCV004514740]	Chr14:18967954 [GRCh38] Chr14:20019752 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.49C>A (p.Pro17Thr)	single nucleotide variant	not specified [RCV004514741]	Chr14:18967534 [GRCh38] Chr14:20020172 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.817C>T (p.Leu273Phe)	single nucleotide variant	not specified [RCV004514742]	Chr14:18976055 [GRCh38] Chr14:20011651 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.869T>A (p.Phe290Tyr)	single nucleotide variant	not specified [RCV004514743]	Chr14:18976107 [GRCh38] Chr14:20011599 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1373A>G (p.Gln458Arg)	single nucleotide variant	not specified [RCV004514733]	Chr14:18988385 [GRCh38] Chr14:19999321 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.28G>A (p.Ala10Thr)	single nucleotide variant	not specified [RCV004514737]	Chr14:18967513 [GRCh38] Chr14:20020193 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.444G>T (p.Trp148Cys)	single nucleotide variant	not specified [RCV004514739]	Chr14:18967929 [GRCh38] Chr14:20019777 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.160A>G (p.Met54Val)	single nucleotide variant	not specified [RCV004514734]	Chr14:18967645 [GRCh38] Chr14:20020061 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.236A>G (p.Asn79Ser)	single nucleotide variant	not specified [RCV004514735]	Chr14:18967721 [GRCh38] Chr14:20019985 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.474C>T (p.Ile158=)	single nucleotide variant	not provided [RCV004546173]	Chr14:18967959 [GRCh38] Chr14:20019747 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.1370G>A (p.Ser457Asn)	single nucleotide variant	not specified [RCV004514730]	Chr14:18988382 [GRCh38] Chr14:19999324 [GRCh37] Chr14:14q11.2	likely benign
NM_001145442.1(POTEM):c.1267G>A (p.Gly423Arg)	single nucleotide variant	not specified [RCV004656011]	Chr14:18988279 [GRCh38] Chr14:19999427 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.959T>C (p.Ile320Thr)	single nucleotide variant	not specified [RCV004656012]	Chr14:18977507 [GRCh38] Chr14:20010199 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.126C>G (p.Asn42Lys)	single nucleotide variant	not specified [RCV004656013]	Chr14:18967611 [GRCh38] Chr14:20020095 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.1349G>A (p.Arg450Lys)	single nucleotide variant	not specified [RCV004656015]	Chr14:18988361 [GRCh38] Chr14:19999345 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.152A>T (p.Asp51Val)	single nucleotide variant	not specified [RCV004656016]	Chr14:18967637 [GRCh38] Chr14:20020069 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.145C>G (p.His49Asp)	single nucleotide variant	not specified [RCV004853091]	Chr14:18967630 [GRCh38] Chr14:20020076 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.268G>C (p.Ala90Pro)	single nucleotide variant	not specified [RCV004853100]	Chr14:18967753 [GRCh38] Chr14:20019953 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.242G>T (p.Gly81Val)	single nucleotide variant	not specified [RCV004853089]	Chr14:18967727 [GRCh38] Chr14:20019979 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.961G>C (p.Val321Leu)	single nucleotide variant	not specified [RCV004853093]	Chr14:18977509 [GRCh38] Chr14:20010197 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.126C>A (p.Asn42Lys)	single nucleotide variant	not specified [RCV004853097]	Chr14:18967611 [GRCh38] Chr14:20020095 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.437C>G (p.Ala146Gly)	single nucleotide variant	not specified [RCV004853099]	Chr14:18967922 [GRCh38] Chr14:20019784 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.208C>G (p.Pro70Ala)	single nucleotide variant	not specified [RCV004853101]	Chr14:18967693 [GRCh38] Chr14:20020013 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.961G>T (p.Val321Phe)	single nucleotide variant	not specified [RCV004853088]	Chr14:18977509 [GRCh38] Chr14:20010197 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.169C>G (p.Leu57Val)	single nucleotide variant	not specified [RCV004853090]	Chr14:18967654 [GRCh38] Chr14:20020052 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.155C>G (p.Ser52Cys)	single nucleotide variant	not specified [RCV004853092]	Chr14:18967640 [GRCh38] Chr14:20020066 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.266C>A (p.Ser89Tyr)	single nucleotide variant	not specified [RCV004853094]	Chr14:18967751 [GRCh38] Chr14:20019955 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.862G>A (p.Val288Met)	single nucleotide variant	not specified [RCV004853095]	Chr14:18976100 [GRCh38] Chr14:20011606 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.167C>T (p.Thr56Ile)	single nucleotide variant	not specified [RCV004853098]	Chr14:18967652 [GRCh38] Chr14:20020054 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.833T>C (p.Leu278Pro)	single nucleotide variant	not specified [RCV005260700]	Chr14:18976071 [GRCh38] Chr14:20011635 [GRCh37] Chr14:14q11.2	uncertain significance
NM_001145442.1(POTEM):c.152A>G (p.Asp51Gly)	single nucleotide variant	not specified [RCV005464475]	Chr14:18967637 [GRCh38] Chr14:20020069 [GRCh37] Chr14:14q11.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2786
Count of miRNA genes:	1163
Interacting mature miRNAs:	1453
Transcripts:	ENST00000547722, ENST00000547848, ENST00000551509
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

Actb-rs1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	77,081,594 - 77,081,878	UniSTS	GRCh37
Build 36	5	77,117,350 - 77,117,634	RGD	NCBI36

PMC109653P1

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	17	q25	UniSTS

PMC23952P1

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	10	q23.3	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	14	q11.2	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
17	68	46	52	84	57	307	1	32	132	26	41	483	453	4	66	255	713	60	7

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001145442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL589182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL929601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY338952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970390	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970479	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970480	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY970502	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063888	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358968	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM358995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000547889 ⟹ ENSP00000448062

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	18,967,434 - 19,003,752 (+)	Ensembl

Ensembl Acc Id:

ENST00000552966 ⟹ ENSP00000448581

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	18,967,434 - 18,998,903 (+)	Ensembl

Ensembl Acc Id:

ENST00000616847 ⟹ ENSP00000483980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	18,967,434 - 18,999,012 (+)	Ensembl

RefSeq Acc Id:

NM_001145442 ⟹ NP_001138914

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	18,967,434 - 19,003,752 (+)	NCBI
GRCh37	14	19,983,954 - 20,020,272 (-)	RGD
HuRef	14	302,421 - 306,516 (-)	ENTREZGENE
CHM1_1	14	19,984,647 - 20,020,421 (-)	NCBI
T2T-CHM13v2.0	14	13,280,571 - 13,316,879 (+)	NCBI

Sequence:

show sequence

GGTAGACGCGATCTGCTGGCTACTACCGGCCTCCCCTGGCTGTTAAAAGCAGATGGTGGCTGAG
GCTGGTTCAATGCCGGCTGCCTCCTCTGTGAAGAAGCCATTTGGTCTCAGAAGCAAGATGGGCA
AGTGGTGCCGCCACTGCTTCCCCTGGTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTCTGG
AGACCACGATGATTCTGCTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCCGCCACTGC
TTCCCCTGGTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTCTGGAGACCACGACGACTCTG
CTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGCCACTGCTTCCCCTGCTGCAGGGG
GAGCGGCAAGAGCAAAGTGGGCCCCTGGGGAGACTACGACGACAGCGCTTTCATGGAGCCGAGG
TACCACGTCCGTCGAGAAGATCTGGACAAGCTCCACAGAGCTGCCTGGTGGGGTAAAGTCCCCA
GAAAGGATCTCATCGTCATGCTCAAGGACACTGACATGAACAAGAAGGACAAGCAAAAGAGGAC
TGCTCTACATCTGGCCTCTGCCAATGGAAATTCAGAAGTAGTAAAACTCCTGCTGGACAGACGA
TGTCAACTTAATATCCTTGACAACAAAAAGAGGACAGCTCTGACAAAGGCCGTACAATGCCAGG
AAGATGAATGTGCGTTAATGTTGCTGGAACATGGCACTGATCCGAATATTCCAGATGAGTATGG
AAATACCGCTCTACACTATGCTATCTACAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTA
TACGGTGCTGATATCGAATCAAAAAACAAGCATGGCCTCACACCACTGTTACTTGGTGTACATG
AGCAAAAACAGCAAGTGGTGAAATTCTTAATCAAGAAAAAAGCAAATTTAAATGCACTGGATAG
ATATGGAAGAACTGTTCTCATACTTGCTGTATGTTGTGGATCGGCAAGTATAGTCAGCCTTCTA
CTTGAGCAAAACATTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTG
TTTCTAGTCGTCATAATGTAATTTGCCAGTTACTTTCTGACTACAAAGAAAAACAGATACTAAA
AGTCTCTTCTGAAAACAGCAATCCAGAACAAGACTTAAAGCTGACATCAGAGGAAGAGTCACAA
AGGCTTAAAGGAAGTGAAAATAGCCAGCCAGAGGAAATGTCTCAAGAACCAGAAATAAATAAGG
GTGGTGATAGAAAGGTTGAAGAAGAAATGAAGAAGCACGGAAGTACTCATATGGGATTCCCAGA
AAACCTGCCTAACGGTGCCACTGCTGACAATGGTGATGATGGATTAATTCCACCAAGGAAAAGC
AGAACACCTGAAAGCCAGCAATTTCCTGACACTGAGAATGAACAGTATCACAGTGATGAACAAA
ATGATACTCAGAAGCAACTTTCTGAAGAACAGAACACTGGAATATTACAAGATGAGATTCTGAT
TCATGAAGAAAAGCAGATAGAAGTGGCTGAAAATGAATTCTGAGCTTTCTCTTAGTTATAAGAA
AGAAAAAGACCTCTTGCATGAAAATAGTACGTTGCAGGAAGAAATTGTCATGCTAAGACTGGAA
CTAGACGTAATGAAACATCAGAGCCAGCTAAGAGAAAAGAAATATTTGGAGGAAATTGAAAGTG
TGGAAAAAAAGAATGATAATCTTTTAAAGGGTCTACAACTGAATGAGCTCACCATGGATGATGA
TACTGCCGTGCTCGTCATTGACAACGGCTCTGGCATGTGCAAGGCCGGCTTTGCAGGTGACGAT
GCCCCCCGGGCTGTCTTCCCTTCCATCGTGGGGTGCCCCAGGCACCAGAACATGATGGGGGGCA
TGCGTCAGATGGAGTCCTATGTGGGCAATGAGGCCCAGAGCAAGAGAGGCATCCTGACCCTGAA
GTACCCCATGGAGCACGGCATCATCACCAACTGGGACGACATGGAGAAGATCTGGCACCACACC
TTCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCATCCTGCTGACCGAGGCACCCCTGA
ACCCCAAGGCCAACCGTGAGAAGATGACCCAGATCATGTTTGAGACCTTCAACACCCCAGCCAT
GTACGTGGCCATCCAAGCCGTGCTGTCCTTGTACACCTCTGGCCGTACTACTGGCATTGTGATG
GACTCTGGTGACGGGGTCACCCACACTGTGCCCATCTATGAGGGGAATGCCCTCCCCCATGCCA
CCCTGCGCCTAGACCTGGCTGGCCGGGAACTGACTGACTACCTCATGAAGATCCTCACCGAGCG
TGGCTATAGTTTCACCACCATGGCCGAGCAGGAAATCGTGCGTGACATCACAGAGAAGCTGTGC
TATGTTGCCCTGGACTTCGAGCAGGAGATGGCCACAGCGGCCTCCAGCTCCTCCCTAGAGAACA
GCTATGAGCTGCCCAACGGCCAGGTCATCACCATTAGCAACGAGCGGTTCCGCTGCCCCGAGGT
GCTCTTCCAGCCTTGCTTCCTGGGCATGGAATCCTGTGGCATCCACGAAACTACCTTCAACTCT
ATCATGAAGTCTGATGTGGACATCCACAAAGACCTGTACACCAACACAGTGCTATCTGGTGGCA
CCACCATGTACCCTGGCATTGCCCACAGGATGCAGAAGGAGATCGCTGCCCTGGCGCCTAGCAC
GATGAAGATCAAGATTGTTGCTCCTCCCAAGCGCAAGTACTCCGTGTGGGTCGGTGGCTCCATC
CTGGCCTCGCTGTCCACCTTCCAGCAGATGTGGATCAGCAAGCAGGAGTATGATGAGTCAGGCC
CCTCCATTGTCCACCGCAAATGCTTCTAGGTGGACGCTGACTTAGTTGCATTACACCCTTTCTT
GACAAAACCAAACTTCGCAGAAAGCCACATGAGATTGGTATGGCTTTAATTGTTTTCTTATTTC
ATTTTTTGTTTTGTTTTTTATTGGCTTGACTCAGGATTTAAAAACTGGAATGGTGAAGGCGAGA
GCAGTTGGTTGGAGTGAGCTTCCCCCAAAGTTCTACAATGTGGCTGAGGACTTTGATCGTACAT
TGTTTTTCTTTTCAATAGTCATTCCAAATATTGTGAGATGCATTGTTTCAGGAAGCCCCTTGCC
CTTCTAAAAGCCACCCCACTTCTCTCTAAGGAGAATGGCCCAGTCCTCTCCCTAATTCACACAG
GGGAGGTGATGGCATTGCTTTCATGCAAATTACGTAATGCAGAATTTTTTGAATCTTTGCCTAA
ATACTTTTTAATTTTGTTTTATTTAGAATGATCAGCCTTCGCGGCCCCCCTTTTTTGTACCCCA
ACTTGGGGTGTATGAAGGCTTTTGGTCTCCCTGAGAGTGGCTGGAGGCAGCCAGGGCTTACCTG
TACTCTGACTTAAGGAGAGTTGGAAAAAAGTGCACACCTTAAAAAAAATTCAATGAGGAAGCAT
TAACAAAAACAGTATTTCTGTACAGTGGACAGCTTAGCATGTTGACAACTGAGAATAAAATGCT
CAGTTCTGAACTGGACAATGTAAGACACAACGACGAAACACTGGAAATGGAAATTCAATTACAT
CATTGTAGACTGGCTACTGCTCTACATGATTGTGACCAAAGTCAGAGAGCTGAAAGAGACTTCT
TTCCAGAGAACAAGACATGAACAGGTTTATTTACAGAAGACAATGAATTCTCATTTGTCTAACC
TAAAAGATTACAGAATCTTTCTCAACAAGTCTAATGTAGACAGTAAAATCAACAGGCTAAAAAT
TAAGTTCCATGAAACAAGATAAAACTCTGAGAGAAAAGATGGGGCAGGCCGCCATCTTTCCCGT
TCGGGCAACTTAGTCATTCCAGCCTGAGGGCTTTGGAGAGTACAAACTGACCAGGGAAAGAAGA
GATCCCAGAGCACAGCATAGCTGCTTTACCAAATCATGGCCAGACTGCTTCTGTAAGCAGGCCC
CTGATCCTGTTCCACCTCACTGGACAGGACCTCCCAACTGGGGCCTCCAGCTACCCCCACCAGC
ATCCCTTGGCCAATGGAAATTTGAAATGTTCCTGGGACAGAGCTCCTGGAGAGAGGGGCAGGCC
ACCACCTTTGCTGTTTGGGTGACTAGCCGTTCTGGCCTGCAGGCTTTGGAGAGCCCAAGCTGAC
AAGGGGTAGAAGAGGTGCCTCAGCACAGCACAGCCACGCTACGAAAACATGGCCAGACTCTTGT
TTAAGTCAGTCCCCGAACACATTTCTAGTCAGTGGGTGAAGTCTTTCAACCAGGGTCTCTGGCT
ACCTTGACTGCTGTTCTCTGGCCGACAGAGGTCTCAGGCCTCCCTGAGTCAGAGCTCCCGGGGG
GAGGACCAGATTGTCATCTTTGCTGTTTGGGTGACCCAGCCATTTCAGCCTTAGGGCTTCAGAG
TGTCTGAGGTAGCCAGGGGCTGAAGTGAACCCCCAGCACAGCACAGCTGCTCTATAAAAACGTG
GCCAGACTTTTTCTTTAAGCAAGTCCCTGTTCTTATTCCTCCTGACTAGGTAAGACTTCTCAAC
TTGCCTCCAGCCACATCTTATTGGTGTGTTCAGATTGGCAACAGGTTCGTACCTCAGTGGTACA
GAGCTCCCAGAGGAAGGGGTAGGCTATCATCTTCCCTGGAAAATACGAGTCAATTAGGGACTTG
AGGGGACCCCCAGCATTCCACAGCAGCCCTTCAGAAAAGTGGCCAGACTCTGTACTTGATGGGC
AGATCCTCCTGGCCTGTGTCTCTAGCCAGCCCACCACTGGAGCTATCAAGCCAGTAGCAACTCA
GCAGTTCCTTGGACAGAGCTTCCAGGAGCAAATGAAATCCTTTCTGCCACTGCCTTTGCAGTGA
ACTGCCCTTGCTATCCTCAGAAGATATATCACGGGAGCAAAGACCCTAAGTGCCATATCAACAC
CTCCAATAAGCTGCAGTTGACCCAAAGAACAAGCCAATCCATCTCCCATAGGTACCACACACAC
TCCACTACTCATCACCAGACAGGGAACCCTGGCTTGGGCCCACAGCACAGACCCTCCATCCTGG
GCCGATTACACTGAGTGATTGCTAACTCACATGTCTCTGGGATGGAGCACCCAGGAGACAAGCA
AAGTGGTGGAGCAGCAAGTCAGGTGATGTGGAGCCCAGAGGGCAGGGACAGCTATCTCTCTAGG
CTCCACTTGCCCTTGTGAGACACTTTGTCCCAGCACTTTAGGAATGCTGAGGTCAGACCAGCCA
CATCTCATGTGCAAGATTGCCCAGCAGACATCAGGTCTGAGAGTTCCCCTTTTAAAAAAGGGGA
CTTGCTTAAAAAAGAAGTCTAGCCACGATTGTGTAGAGCAGCTGTGCTGTGCTGGAGATTCACT
TTTGAGAGAGTTCTCCTCTGAGACCTGATCTTTAGAGGCTGGGCAGTCTTGCACATGAGATGGG
GCTGGTCTGATCTCAGCACTCCTTAGTCTGCTTGCCTCTCCCAGGGCCCCAGCCTGGCCACACC
TGCTTACAGGGCACTCTCAGATGCCCATACCATAGTTTCTGTGCTAGTGGACCGTACCATATCA
GTGGAGAGCTGCAGCAAGGTGGCCCCTACGGCCACGCACCAGCCTGCACATTACCTCTCCATAC
TGCAGCCCTTTATATGGAAACTTCCTACATCACTTTGCTGTGTGTGTTTACACAGGTGGATTTT
GCTTTACTTGCACTGACAGCACACAGGAGGGCAGCACACACCCCAACCCACATCAACTGCCATT
AAAGAAAAGAAATTTCAGCCCATAATTTCATGTCCAGCAAAATTAGGCATCATAAGTGAAGGAG
AAATAAGATCCTTTTCAGACAAGCAAATGCTGAGGGAATTCAATATCACCAGATCTACCTTACA
AGAGCTCCTGAAGGAAGCACTAAATATGGAAAGAAAAAACCATCACCAGCCACTACAAAAATGC
AGTGAAGAACGCAGTGAATTACGCAGTCCAGTGATGCTAAAAACCAACCACATACGTTAAGTCT
GCAAAATAACCAGCTGACAGCATGACGACAGGATAAAATCCACACATACCATTACTAACCTTAA
ATGAAAATGGGCTAAATGCTCCCATTGAAAGACACGGGGCAAGCTGGATAAAGAACCAAGACCC
ACTGGAGTATGCTGTCTTCAAGAAACCCATCTCACATGCGGTGGCATACATAGGCTCAAAATAA
AGGAATGGAGAAAAATATTTCAAGCAAATGGAAAACAGAAAAAAGCAGGTGTTGCACTCCTACT
TTCTGACAAAACAGACTATGCGAATAAAGATAAAAAAGAGAAGGACATTACAAAGGTGGTCCTG
ACCTTTGATAAATCTCATTGCTTGATACCAACCTGGGCTGTTTTAATTGCCCAAACCAATAGGA
TAATTTGCTGAGGTTGTGGAGCTTCTCCCCTGCAGAGAGTCCCTGATCTCCCAAAATTTGGTTG
AGATGTAAGGTTGATTTTGCTGTACAACTCCTTTTCTGAAGTTTTACTCATTTCCAAAAAGGAA
GGCAAGTTTTCCTGCTTCCATGACGATGGAGAGCAGGCATCTCCTTTCCTGAGTTTCAGCTTGC
TTCTGACAGG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001138914	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A6NI47	(Get FASTA)	NCBI Sequence Viewer
	AAX82187	(Get FASTA)	NCBI Sequence Viewer
	AAX82195	(Get FASTA)	NCBI Sequence Viewer
	AAX82196	(Get FASTA)	NCBI Sequence Viewer
	AAX82197	(Get FASTA)	NCBI Sequence Viewer
	AAX82198	(Get FASTA)	NCBI Sequence Viewer
	AAX82199	(Get FASTA)	NCBI Sequence Viewer
	AAX82200	(Get FASTA)	NCBI Sequence Viewer
	AAX82237	(Get FASTA)	NCBI Sequence Viewer
	AAX82239	(Get FASTA)	NCBI Sequence Viewer
	AAX82240	(Get FASTA)	NCBI Sequence Viewer
	AAX82241	(Get FASTA)	NCBI Sequence Viewer
	AAX82255	(Get FASTA)	NCBI Sequence Viewer
	AAX82256	(Get FASTA)	NCBI Sequence Viewer
	AAX82261	(Get FASTA)	NCBI Sequence Viewer
	AAX82262	(Get FASTA)	NCBI Sequence Viewer
	AAX82263	(Get FASTA)	NCBI Sequence Viewer
	AAX82264	(Get FASTA)	NCBI Sequence Viewer
	AAX82265	(Get FASTA)	NCBI Sequence Viewer
	AAX82267	(Get FASTA)	NCBI Sequence Viewer
	AAX82285	(Get FASTA)	NCBI Sequence Viewer
	AAX82286	(Get FASTA)	NCBI Sequence Viewer
	AAX82308	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000448062
	ENSP00000448062.2

RefSeq Acc Id:

NP_001138914 ⟸ NM_001145442

- UniProtKB:

A6NI47 (UniProtKB/Swiss-Prot), A0A087X187 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MVAEAGSMPAASSVKKPFGLRSKMGKWCRHCFPWCRGSGKSNVGTSGDHDDSAMKTLRSKMGKW
CRHCFPWCRGSGKSNVGTSGDHDDSAMKTLRSKMGKWCCHCFPCCRGSGKSKVGPWGDYDDSAF
MEPRYHVRREDLDKLHRAAWWGKVPRKDLIVMLKDTDMNKKDKQKRTALHLASANGNSEVVKLL
LDRRCQLNILDNKKRTALTKAVQCQEDECALMLLEHGTDPNIPDEYGNTALHYAIYNEDKLMAK
ALLLYGADIESKNKHGLTPLLLGVHEQKQQVVKFLIKKKANLNALDRYGRTVLILAVCCGSASI
VSLLLEQNIDVSSQDLSGQTAREYAVSSRHNVICQLLSDYKEKQILKVSSENSNPEQDLKLTSE
EESQRLKGSENSQPEEMSQEPEINKGGDRKVEEEMKKHGSTHMGFPENLPNGATADNGDDGLIP
PRKSRTPESQQFPDTENEQYHSDEQNDTQKQLSEEQNTGILQDEILIHEEKQIEVAENEF

hide sequence

Ensembl Acc Id:

ENSP00000448062 ⟸ ENST00000547889

Ensembl Acc Id:

ENSP00000483980 ⟸ ENST00000616847

Ensembl Acc Id:

ENSP00000448581 ⟸ ENST00000552966

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A6NI47-F1-model_v2	AlphaFold	A6NI47	1-508	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:37096	AgrOrtholog
COSMIC	POTEM	COSMIC
Ensembl Genes	ENSG00000222036	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000547889	ENTREZGENE
	ENST00000547889.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.20	UniProtKB/Swiss-Prot
GTEx	ENSG00000222036	GTEx
HGNC ID	HGNC:37096	ENTREZGENE
Human Proteome Map	POTEM	Human Proteome Map
InterPro	Ankyrin_repeat_domain	UniProtKB/Swiss-Prot
	Ankyrin_rpt	UniProtKB/Swiss-Prot
	Ankyrin_rpt-contain_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:641455	UniProtKB/Swiss-Prot
NCBI Gene	641455	ENTREZGENE
PANTHER	ANKYRIN REPEAT DOMAIN 36-RELATED	UniProtKB/Swiss-Prot
	POTE ANKYRIN DOMAIN FAMILY MEMBER D	UniProtKB/Swiss-Prot
Pfam	Ank_2	UniProtKB/Swiss-Prot
PharmGKB	PA165479276	PharmGKB
PRINTS	ANKYRIN	UniProtKB/Swiss-Prot
PROSITE	ANK_REP_REGION	UniProtKB/Swiss-Prot
	ANK_REPEAT	UniProtKB/Swiss-Prot
SMART	ANK	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48403	UniProtKB/Swiss-Prot
UniProt	A0A087X187	ENTREZGENE, UniProtKB/TrEMBL
	A0A0H2UH41_HUMAN	UniProtKB/TrEMBL
	A6NI47	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	POTEM	POTE ankyrin domain family member M		POTE ankyrin domain family, member M	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar