TMBIM6 (transmembrane BAX inhibitor motif containing 6)

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Gene: TMBIM6 (transmembrane BAX inhibitor motif containing 6) Homo sapiens

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Symbol:

TMBIM6

Name:

transmembrane BAX inhibitor motif containing 6

RGD ID:

736097

HGNC Page

HGNC:11723

Description:

Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; negative regulation of macromolecule metabolic process; and response to L-glutamate. Acts upstream of or within negative regulation of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane and mitochondrial membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bax inhibitor 1; BAXI1; BI-1; TEGT; testis enhanced gene transcript; testis enhanced gene transcript (BAX inhibitor 1); testis-enhanced gene transcript protein; transmembrane BAX inhibitor motif-containing protein 6

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	12	49,741,557 - 49,764,934 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	49,707,725 - 49,764,934 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	50,135,340 - 50,158,717 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	48,421,560 - 48,444,984 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	48,432,511 - 48,444,760	NCBI
Celera	12	48,931,228 - 48,954,652 (+)	NCBI		Celera
Cytogenetic Map	12	q13.12	NCBI
HuRef	12	47,166,860 - 47,190,297 (+)	NCBI		HuRef
CHM1_1	12	50,101,626 - 50,125,066 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	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

cervical squamous cell carcinoma (IEP)

invasive ductal carcinoma (ISO)

prostate carcinoma (IEP)

Reperfusion Injury (ISO)

Subarachnoid Hemorrhage (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

2-palmitoylglycerol (EXP)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

acrolein (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

ammonium chloride (ISO)

aristolochic acid A (EXP)

azoxystrobin (EXP,ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

chlorpyrifos (ISO)

corosolic acid (EXP)

cyclosporin A (EXP)

deoxynivalenol (EXP)

diazinon (ISO)

dieldrin (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

ethanol (ISO)

folic acid (ISO)

formaldehyde (EXP)

furan (ISO)

gallic acid (EXP)

glafenine (ISO)

glyphosate (ISO)

imidacloprid (ISO)

inulin (ISO)

ivermectin (EXP)

lead(0) (EXP)

methylparaben (EXP)

nickel dichloride (ISO)

ozone (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenylmercury acetate (EXP)

picoxystrobin (EXP)

pyrimidifen (EXP)

rotenone (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

tamibarotene (EXP)

testosterone (EXP)

thiabendazole (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (IEA)

autophagy (IEA)

calcium ion transmembrane transport (IEA)

cellular response to unfolded protein (IBA,IDA,IEA)

endoplasmic reticulum calcium ion homeostasis (IEA,ISO)

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (IEA,ISO)

lung development (ISO)

negative regulation of apoptotic process (IEA,IGI)

negative regulation of apoptotic signaling pathway (IBA,IDA)

negative regulation of calcium ion transport into cytosol (IDA)

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (IDA,IEA,ISO)

negative regulation of endoribonuclease activity (IDA)

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway (IDA)

negative regulation of immunoglobulin production (IEA)

negative regulation of RNA splicing (IDA,IEA)

neuron intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (IEA,ISO)

response to endoplasmic reticulum stress (IEA)

response to L-glutamate (IDA)

response to unfolded protein (IEA)

spermatogenesis (ISO)

Cellular Component

cytoplasm (IDA)

endoplasmic reticulum (IDA,IEA,TAS)

endoplasmic reticulum membrane (IBA,IDA,IEA)

membrane (HDA,IEA,NAS)

nucleus (TAS)

plasma membrane (TAS)

Molecular Function

calcium channel activity (IBA)

endoribonuclease inhibitor activity (IBA,IDA,IEA)

enzyme binding (IEA,IPI)

protein binding (IPI)

ubiquitin protein ligase binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Identification of transmembrane proteins as potential prognostic markers and therapeutic targets in breast cancer by a screen for signal sequence encoding transcripts.	Esseghir S, etal., J Pathol. 2006 Dec;210(4):420-30.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Bax inhibitor-1 is overexpressed in prostate cancer and its specific down-regulation by RNA interference leads to cell death in human prostate carcinoma cells.	Grzmil M, etal., Am J Pathol. 2003 Aug;163(2):543-52.
4.	Prediction of outcome of advanced cervical cancer to thermoradiotherapy according to expression profiles of 35 genes selected by cDNA microarray analysis.	Harima Y, etal., Int J Radiat Oncol Biol Phys. 2004 Sep 1;60(1):237-48.
5.	Bax inhibitor-1 suppresses early brain injury following experimental subarachnoid hemorrhage in rats.	Liu J, etal., Int J Mol Med. 2018 Nov;42(5):2891-2902. doi: 10.3892/ijmm.2018.3858. Epub 2018 Sep 5.
6.	Role of perfusion medium, oxygen and rheology for endoplasmic reticulum stress-induced cell death after hypothermic machine preservation of the liver.	Manekeller S, etal., Transpl Int. 2008 Feb;21(2):169-77. Epub 2007 Nov 12.
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	Comprehensive gene review and curation	RGD comprehensive gene curation

Additional References at PubMed

PMID:8125298	PMID:8530040	PMID:8889549	PMID:9660918	PMID:10087504	PMID:10198159	PMID:12477932	PMID:15489334	PMID:16344560	PMID:16353209	PMID:17526500	PMID:18299329
PMID:18378668	PMID:18440869	PMID:19284981	PMID:19290886	PMID:19328063	PMID:19339548	PMID:19433315	PMID:19579059	PMID:19913121	PMID:19946888	PMID:20123969	PMID:20359348
PMID:20628086	PMID:21068390	PMID:21075086	PMID:21262377	PMID:21297665	PMID:21537843	PMID:21545297	PMID:21586565	PMID:21601004	PMID:21873635	PMID:21988832	PMID:22128171
PMID:22418439	PMID:22588718	PMID:23867001	PMID:24314142	PMID:24344041	PMID:24625972	PMID:25227609	PMID:25764978	PMID:25973025	PMID:26186194	PMID:26272612	PMID:26582200
PMID:26972000	PMID:28514442	PMID:29457838	PMID:29666234	PMID:30559186	PMID:31841271	PMID:31903127	PMID:32167007	PMID:32296183	PMID:32614325	PMID:32782388	PMID:32929329
PMID:33275233	PMID:33306668	PMID:33637103	PMID:33744846	PMID:33859776	PMID:33961781	PMID:34562874	PMID:34651659	PMID:36215168	PMID:36639675	PMID:37317656

Genomics

Comparative Map Data

TMBIM6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	49,707,725 - 49,764,934 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	50,135,340 - 50,158,717 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	48,421,560 - 48,444,984 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	48,432,511 - 48,444,760	NCBI
Celera	12	48,931,228 - 48,954,652 (+)	NCBI		Celera
Cytogenetic Map	12	q13.12	NCBI
HuRef	12	47,166,860 - 47,190,297 (+)	NCBI		HuRef
CHM1_1	12	50,101,626 - 50,125,066 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	NCBI		T2T-CHM13v2.0

Tmbim6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	99,290,828 - 99,307,930 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	99,290,763 - 99,307,930 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	99,392,947 - 99,410,049 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	99,392,882 - 99,410,049 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	99,223,378 - 99,240,480 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	99,221,020 - 99,238,074 (+)	NCBI		MGSCv36	mm8
Celera	15	101,548,094 - 101,565,263 (+)	NCBI		Celera
Cytogenetic Map	15	F1	NCBI
cM Map	15	56.13	NCBI

Tmbim6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	132,405,217 - 132,422,492 (+)	NCBI		GRCr8
mRatBN7.2	7	130,527,313 - 130,542,567 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	130,527,316 - 130,543,633 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	132,332,457 - 132,347,226 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	134,558,037 - 134,572,806 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	134,470,553 - 134,485,322 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	141,039,433 - 141,070,269 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	141,034,982 - 141,069,989 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	115,557,801 - 115,572,802 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	138,139,438 - 138,154,243 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	138,216,492 - 138,230,680 (+)	NCBI
Celera	7	127,009,876 - 127,024,679 (+)	NCBI		Celera
Cytogenetic Map	7	q36	NCBI

Tmbim6
(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_004955547	335,275 - 358,503 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955547	335,344 - 358,503 (+)	NCBI	ChiLan1.0	ChiLan1.0

TMBIM6
(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	10	44,420,329 - 44,443,769 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	44,417,090 - 44,440,530 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	38,986,844 - 39,010,307 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	39,879,951 - 39,902,607 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	39,879,951 - 39,902,303 (-)	Ensembl	panpan1.1		panPan2

TMBIM6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	4,921,606 - 4,944,830 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	4,921,606 - 4,944,783 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	41,313,127 - 41,336,268 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	4,971,016 - 4,994,198 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	4,971,043 - 4,993,921 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	4,936,445 - 4,959,768 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	4,926,010 - 4,949,602 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	41,707,565 - 41,730,952 (+)	NCBI		UU_Cfam_GSD_1.0

Tmbim6
(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_024404945	65,716,130 - 65,736,962 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936512	7,427,729 - 7,449,078 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936512	7,427,926 - 7,448,700 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TMBIM6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	15,674,057 - 15,692,936 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	15,674,028 - 15,692,944 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

TMBIM6
(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	11	45,976,689 - 46,001,021 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	45,976,700 - 46,001,457 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	200,122,797 - 200,147,849 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tmbim6
(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 1.0	NW_004624816	2,519,839 - 2,540,766 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TMBIM6
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	copy number gain	See cases [RCV000207454]	Chr12:31886971..50360461 [GRCh37] Chr12:12p11.21-q13.12	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_003217.3(TMBIM6):c.-31+648C>A	single nucleotide variant	not specified [RCV004301347]	Chr12:49742259 [GRCh38] Chr12:50136042 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.68C>T (p.Thr23Met)	single nucleotide variant	not specified [RCV004322226]	Chr12:49752984 [GRCh38] Chr12:50146767 [GRCh37] Chr12:12q13.12	uncertain significance
NC_000012.11:g.26370251_54361538inv	inversion	not specified [RCV000714265]	Chr12:26370251..54361538 [GRCh37] Chr12:12p12.1-q13.13	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_003217.3(TMBIM6):c.66A>G (p.Ser22=)	single nucleotide variant	not provided [RCV000965236]	Chr12:49752982 [GRCh38] Chr12:50146765 [GRCh37] Chr12:12q13.12	benign
NM_003217.3(TMBIM6):c.553G>A (p.Val185Ile)	single nucleotide variant	not specified [RCV004684236]	Chr12:49759260 [GRCh38] Chr12:50153043 [GRCh37] Chr12:12q13.12	uncertain significance
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	copy number gain	not provided [RCV001259140]	Chr12:49024019..50299974 [GRCh37] Chr12:12q13.11-13.12	uncertain significance
GRCh37/hg19 12q13.12(chr12:49976064-50147736)	copy number loss	not specified [RCV002052995]	Chr12:49976064..50147736 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.-31+611G>T	single nucleotide variant	not specified [RCV004092594]	Chr12:49742222 [GRCh38] Chr12:50136005 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.647C>T (p.Thr216Ile)	single nucleotide variant	not specified [RCV004237872]	Chr12:49761736 [GRCh38] Chr12:50155519 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.401A>G (p.Tyr134Cys)	single nucleotide variant	not specified [RCV004133161]	Chr12:49758448 [GRCh38] Chr12:50152231 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.380G>C (p.Cys127Ser)	single nucleotide variant	not specified [RCV004179763]	Chr12:49758427 [GRCh38] Chr12:50152210 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.53A>T (p.His18Leu)	single nucleotide variant	not specified [RCV004124247]	Chr12:49752546 [GRCh38] Chr12:50146329 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.-31+668A>G	single nucleotide variant	not specified [RCV004092238]	Chr12:49742279 [GRCh38] Chr12:50136062 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.137A>G (p.Tyr46Cys)	single nucleotide variant	not specified [RCV004253769]	Chr12:49753053 [GRCh38] Chr12:50146836 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.-31+574C>T	single nucleotide variant	not specified [RCV004684234]	Chr12:49742185 [GRCh38] Chr12:50135968 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.87G>T (p.Lys29Asn)	single nucleotide variant	not specified [RCV004684235]	Chr12:49753003 [GRCh38] Chr12:50146786 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.628C>A (p.Leu210Ile)	single nucleotide variant	not specified [RCV004365485]	Chr12:49761717 [GRCh38] Chr12:50155500 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.316T>C (p.Cys106Arg)	single nucleotide variant	not specified [RCV004352201]	Chr12:49758256 [GRCh38] Chr12:50152039 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.111T>G (p.Cys37Trp)	single nucleotide variant	not specified [RCV004472586]	Chr12:49753027 [GRCh38] Chr12:50146810 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.143A>G (p.His48Arg)	single nucleotide variant	not specified [RCV004472587]	Chr12:49753059 [GRCh38] Chr12:50146842 [GRCh37] Chr12:12q13.12	uncertain significance
NM_003217.3(TMBIM6):c.299G>T (p.Gly100Val)	single nucleotide variant	not specified [RCV004472588]	Chr12:49758239 [GRCh38] Chr12:50152022 [GRCh37] Chr12:12q13.12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	9228
Count of miRNA genes:	1173
Interacting mature miRNAs:	1474
Transcripts:	ENST00000267115, ENST00000395006, ENST00000423828, ENST00000546796, ENST00000546885, ENST00000546914, ENST00000547013, ENST00000547187, ENST00000547798, ENST00000547832, ENST00000548201, ENST00000548589, ENST00000548713, ENST00000548809, ENST00000548894, ENST00000549130, ENST00000549385, ENST00000549445, ENST00000549471, ENST00000549966, ENST00000550040, ENST00000550445, ENST00000550951, ENST00000551154, ENST00000552370, ENST00000552635, ENST00000552699, ENST00000553022
Prediction methods:	Microtar, 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
407228948	GWAS877924_H	bone density QTL GWAS877924 (human)		1e-300	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	12	49741759	49741760	Human
406940560	GWAS589536_H	cognitive function measurement QTL GWAS589536 (human)		0.0000008	cognitive function measurement		12	49744682	49744683	Human
406994291	GWAS643267_H	systolic blood pressure QTL GWAS643267 (human)		1e-09	systolic blood pressure	systolic blood pressure (CMO:0000004)	12	49761617	49761618	Human
407332243	GWAS981219_H	total cholesterol measurement QTL GWAS981219 (human)		1e-09	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	12	49763105	49763106	Human
407398302	GWAS1047278_H	pulse pressure measurement QTL GWAS1047278 (human)		2e-11	pulse pressure measurement	pulse pressure (CMO:0000292)	12	49761617	49761618	Human
407186344	GWAS835320_H	sphingomyelin measurement QTL GWAS835320 (human)		1e-09	sphingomyelin measurement		12	49761653	49761654	Human
406999676	GWAS648652_H	intelligence QTL GWAS648652 (human)		4e-08	intelligence		12	49756483	49756484	Human

Markers in Region

RH11178

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,158,251 - 50,158,389	UniSTS	GRCh37
Build 36	12	48,444,518 - 48,444,656	RGD	NCBI36
Celera	12	48,954,186 - 48,954,324	RGD
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,189,831 - 47,189,969	UniSTS
GeneMap99-GB4 RH Map	12	218.92	UniSTS
NCBI RH Map	12	449.2	UniSTS

D12S1479E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,158,116 - 50,158,203	UniSTS	GRCh37
Build 36	12	48,444,383 - 48,444,470	RGD	NCBI36
Celera	12	48,954,051 - 48,954,138	RGD
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,189,696 - 47,189,783	UniSTS

RH70154

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,157,128 - 50,157,267	UniSTS	GRCh37
Build 36	12	48,443,395 - 48,443,534	RGD	NCBI36
Celera	12	48,953,063 - 48,953,202	RGD
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,188,708 - 47,188,847	UniSTS
GeneMap99-GB4 RH Map	12	222.2	UniSTS

A009U42

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,151,658 - 50,151,816	UniSTS	GRCh37
Build 36	12	48,437,925 - 48,438,083	RGD	NCBI36
Celera	12	48,947,592 - 48,947,750	RGD
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,183,237 - 47,183,395	UniSTS
GeneMap99-GB4 RH Map	12	222.2	UniSTS

D12S1129E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,149,436 - 50,149,520	UniSTS	GRCh37
Build 36	12	48,435,703 - 48,435,787	RGD	NCBI36
Celera	12	48,945,370 - 48,945,454	RGD
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,181,015 - 47,181,099	UniSTS

RH45303

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,151,560 - 50,151,772	UniSTS	GRCh37
Build 36	12	48,437,827 - 48,438,039	RGD	NCBI36
Celera	12	48,947,494 - 48,947,706	RGD
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,183,139 - 47,183,351	UniSTS
GeneMap99-GB4 RH Map	12	222.3	UniSTS
NCBI RH Map	12	423.0	UniSTS

G32858

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	50,151,658 - 50,151,816	UniSTS	GRCh37
Celera	12	48,947,592 - 48,947,750	UniSTS
Cytogenetic Map	12	q12-q13	UniSTS
HuRef	12	47,183,237 - 47,183,395	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	5	624	1951	465	2269	7303	6469	53	3734	1	851	1743	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001098576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001414464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005269126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024449174	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA057740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC084037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC131157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF033095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY736129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ613936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ834362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA476870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC319835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC349385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X75861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000267115 ⟹ ENSP00000267115

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,557 - 49,764,934 (+)	Ensembl

Ensembl Acc Id:

ENST00000395006 ⟹ ENSP00000378454

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,752,456 - 49,764,742 (+)	Ensembl

Ensembl Acc Id:

ENST00000423828 ⟹ ENSP00000389277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,809 - 49,764,934 (+)	Ensembl

Ensembl Acc Id:

ENST00000546796 ⟹ ENSP00000450159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,738,993 - 49,758,483 (+)	Ensembl

Ensembl Acc Id:

ENST00000546885

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,571 - 49,742,488 (+)	Ensembl

Ensembl Acc Id:

ENST00000546914 ⟹ ENSP00000448612

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,557 - 49,755,756 (+)	Ensembl

Ensembl Acc Id:

ENST00000547013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,758,207 - 49,761,783 (+)	Ensembl

Ensembl Acc Id:

ENST00000547187 ⟹ ENSP00000447400

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,549 - 49,755,756 (+)	Ensembl

Ensembl Acc Id:

ENST00000547798 ⟹ ENSP00000447030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,752,964 - 49,764,723 (+)	Ensembl

Ensembl Acc Id:

ENST00000547832 ⟹ ENSP00000448269

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,547 - 49,758,462 (+)	Ensembl

Ensembl Acc Id:

ENST00000548201 ⟹ ENSP00000450265

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,608 - 49,758,438 (+)	Ensembl

Ensembl Acc Id:

ENST00000548589

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,707,733 - 49,715,777 (+)	Ensembl

Ensembl Acc Id:

ENST00000548713 ⟹ ENSP00000447888

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,608 - 49,752,524 (+)	Ensembl

Ensembl Acc Id:

ENST00000548809 ⟹ ENSP00000449000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,707,725 - 49,752,526 (+)	Ensembl

Ensembl Acc Id:

ENST00000548894 ⟹ ENSP00000447074

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,557 - 49,752,542 (+)	Ensembl

Ensembl Acc Id:

ENST00000549130 ⟹ ENSP00000450305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,743,417 - 49,755,736 (+)	Ensembl

Ensembl Acc Id:

ENST00000549385 ⟹ ENSP00000448036

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,574 - 49,764,726 (+)	Ensembl

Ensembl Acc Id:

ENST00000549445 ⟹ ENSP00000449904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,568 - 49,755,756 (+)	Ensembl

Ensembl Acc Id:

ENST00000549471

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,759,136 - 49,763,094 (+)	Ensembl

Ensembl Acc Id:

ENST00000549966 ⟹ ENSP00000446668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,544 - 49,758,265 (+)	Ensembl

Ensembl Acc Id:

ENST00000550040

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,758,804 - 49,762,137 (+)	Ensembl

Ensembl Acc Id:

ENST00000550445 ⟹ ENSP00000449907

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,822 - 49,758,686 (+)	Ensembl

Ensembl Acc Id:

ENST00000550951 ⟹ ENSP00000449421

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,571 - 49,753,049 (+)	Ensembl

Ensembl Acc Id:

ENST00000551154 ⟹ ENSP00000450417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,707,733 - 49,753,039 (+)	Ensembl

Ensembl Acc Id:

ENST00000552370 ⟹ ENSP00000450158

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,750,620 - 49,762,948 (+)	Ensembl

Ensembl Acc Id:

ENST00000552635 ⟹ ENSP00000450050

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,557 - 49,758,707 (+)	Ensembl

Ensembl Acc Id:

ENST00000552699 ⟹ ENSP00000446734

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,741,557 - 49,764,737 (+)	Ensembl

Ensembl Acc Id:

ENST00000553022

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	49,753,038 - 49,758,708 (+)	Ensembl

RefSeq Acc Id:

NM_001098576 ⟹ NP_001092046

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,869 - 49,764,934 (+)	NCBI
GRCh37	12	50,135,293 - 50,158,717 (+)	ENTREZGENE
GRCh37	12	50,135,293 - 50,158,717 (+)	NCBI
Build 36	12	48,421,859 - 48,444,984 (+)	NCBI Archive
HuRef	12	47,166,860 - 47,190,297 (+)	ENTREZGENE
CHM1_1	12	50,101,925 - 50,125,066 (+)	NCBI
T2T-CHM13v2.0	12	49,704,891 - 49,727,957 (+)	NCBI

Sequence:

show sequence

GCCTCTATTCTGCCCCAGAGCGCTGGCGAAGGCCCCTTCTCAGCCCGCCTTTTCCTTTCTCCCG
CTCCTTCTCCTCTACTAAGTGTAGACGCAGGGCCCCTTGGCCTAGCTTCGATCGTTCGAATTCA
GAGCACGTCCTTCCGAGGTGAAGGAACGCGAAACTCCACCCATCCGATTGCTGTTCGGCTGCGG
GCGGGTCCTTTGGTCGGGCTGACCCTGGGTGAGCGGCCCGGAGCCAAGACTCGAGGTAGGGCCT
GGCGGGCGGGTGATGTCACACTCCTCTGTGACACGCGAGGCTCCTCAGTTACTTAGCCAACGGC
AGAGGCGGGAAGTGAGAGGAGTCTGGGGCTGGGGCTGCCTTCCAGGCCCACGGGGCGGCCCCGC
TCTTTTCGGATTGGTTACCTTTGGGCAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAAC
ATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCAACGC
AGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGC
CTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATA
TTGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTC
TTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGT
CAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTGCTTCACCCTC
AGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGA
GCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCAAA
CCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTCATTATTGAA
AAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTA
CTGTCTTCAGAAAACTCATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAA
ATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTTT
GCACACATTACAGGTGGTGTGTTCTGTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGT
GGTTTCCTCTATTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGG
CTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCT
ACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTC
CGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCT
TCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATT
GGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAA
GAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCTGGCA
AACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACC
CTCAGGGAGTCAGCCTGCTTCCATCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATT
CTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATCAAGGTACAGCATCGTAGGGTTCCCCT
AAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCCCCTTACTGAGCGGCCTCTACTAGGTGG
CTGTGATTAAATGTCCCAAGCAAGGATAGGGAAGGGGAATGGTTGAGCCTCTGGAGATCATTGT
AACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGG
CAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTTCCTCATTCACATCAACAGAGCGAGGC
TGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCTTCAGTGCATTTTAGTCTGTCTCCAACTG
GACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATG
CACTTTAGTTTTTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGCGGGAGTTAGG
CGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTTCAAGTGTGGGTGGACAGTCC
TAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATG
TTGGGAGTGGTTGTGGCTCTGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGA
AAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCACAGTTTGAC
ACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTA
AGTTGTGTTTATTCCTGGAGTGACATGCCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTC
CTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTCCTGT
TAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAAC
ATCTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGA
AACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAAGAAAGAAAAAAAAAAAAACACCTACT
TTTAAAGAAAATACCTAACAGATTTTTAATATAGTTATCTCTACCACTTTCTTTTCTAGTTTCT
TGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTGAAGACAAAGGTGTTTTTGATTCAGAA
ATATATGAAATCTGCATAGTCTTAATTTGTAAAAAATAAAGAAAATTCCTTAACCTTT

hide sequence

RefSeq Acc Id:

NM_001414462 ⟹ NP_001401391

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	NCBI

RefSeq Acc Id:

NM_001414463 ⟹ NP_001401392

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	NCBI

RefSeq Acc Id:

NM_001414464 ⟹ NP_001401393

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	NCBI

RefSeq Acc Id:

NM_003217 ⟹ NP_003208

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI
GRCh37	12	50,135,293 - 50,158,717 (+)	ENTREZGENE
GRCh37	12	50,135,293 - 50,158,717 (+)	NCBI
Build 36	12	48,421,560 - 48,444,984 (+)	NCBI Archive
HuRef	12	47,166,860 - 47,190,297 (+)	ENTREZGENE
CHM1_1	12	50,101,626 - 50,125,066 (+)	NCBI
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	NCBI

Sequence:

show sequence

AGAGCACATCCGGTGTTAGAAGCGCTGGTAGGCCTTGGAGAGGCGGGTTAGGAAGAGTGGAGAC
TGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAA
AATTTTCTCATATAACCCCGTCAACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCT
TTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGC
CTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATGGCAACACCTCATAGCCATG
AAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGG
CCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACG
GCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTC
TGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTT
TGGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTC
CTTTTTGATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACT
GCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACTCATGATGATCCTGGCCATGAA
TGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCC
TCTCCTTCCACCCCTCATTTCCTTTTTGCACACATTACAGGTGGTGTGTTCTGTGATAATGAAA
AGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGATCAAAAAACTG
ATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTG
TCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGAC
CAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTG
AACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCT
GTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCT
CAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCC
CTCTGAGCTGCCCATGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGT
GTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTTCCATCCATGGGTGGGAA
GACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTAT
CAAGGTACAGCATCGTAGGGTTCCCCTAAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCC
CCTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATAGGGAAGGGG
AATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAG
CAAACCTAGATAAGGACCTGTTTGGGGCAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGT
TCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCTT
CAGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGC
AGTAGATAAATGTTCATTTTACTGATGCACTTTAGTTTTTGGTCTGTTACCTGTTTTCCAGAAA
TTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTT
GTGGCTTCAAGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCAC
AGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCTCTGAGCTGCTCTACAGAGC
TTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCC
CTATTCACAACCAGTGCACAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGT
GCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGACATGCCACCCCGAA
TGGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAG
AACTTACTAAAGGCACTTCCTTCCTGTTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCT
CTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTG
CTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAA
AGAAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTA
TCTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGT
GAAGACAAAGGTGTTTTTGATTCAGAAATATATGAAATCTGCATAGTCTTAATTTGTAAAAAAT
AAAGAAAATTCCTTAACCTTT

hide sequence

RefSeq Acc Id:

XM_005269126 ⟹ XP_005269183

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI

Sequence:

show sequence

ACATCCGGTGTTAGAAGCGCTGGTAGGCCTTGGAGAGGCGGGTTAGGAAGACGCAGGGCCCCTT
GGCCTAGCTTCGATCGTTCGAATTCAGAGCACGTCCTTCCGAGGTGAAGGAACGCGAAACTCCA
CCCATCCGATTGCTGTTCGGCTGCGGGCGGGTCCTTTGGTCGGGCTGACCCTGGGTGAGCGGCC
CGGAGCCAAGACTCGAGGTAGGGCCTGGCGGGCGGGTGATGTCACACTCCTCTGTGACACGCGA
GGCTCCTCAGTTACTTAGCCAACGGCAGAGGCGGGAAGTGAGAGGAGTCTGGGGCTGGGGCTGC
CTTCCAGGCCCACGGGGCGGCCCCGCTCTTTTCGGATTGGTTACCTTTGGGCAGAGTGGAGACT
GCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCGCTTTTAAA
ATTTTCTCATATAACCCCGTCAACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTT
TGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATATGGTCACTCATTTCATTCAGGCTGGCC
TGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATGGCAACACCTCATAGCCATGA
AACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGC
CCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCTTTCATGGGCACGG
CAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCT
GGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTT
GGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCC
TTTTTGATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTG
CATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACTCATGATGATCCTGGCCATGAAT
GAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACCATCCAGCCTTTCCCAATTAGACTTCCT
CTCCTTCCACCCCTCATTTCCTTTTTGCACACATTACAGGTGGTGTGTTCTGTGATAATGAAAA
GCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTATTTTGAATTTTTTGATCAAAAAACTGA
TTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCCTGGGGTTCCCCTCACTCCCTTTTTTGT
CAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGTCGACCCGCCACGATGAGAAGTGGGACC
AGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCACCAGGCTTCATTCACCCAGTGGACCTGA
ACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCATTGTTGTTTGGTATGCGCACAGTTCCTG
TGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTTCAGTGGTCCCATTGTTAACTCAGCCTC
AAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGAGCCTCTTCTGGTGGATGCTTTGCTCCC
TCTGAGCTGCCCATGCTGGTCTGGCAAACACACCTTTCTGCTTTGCCTTCACAAAAGTAATGTG
TTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTCAGCCTGCTTCCATCCATGGGTGGGAAG
ACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCATTTTTGAAAAGGCTGATTATGTGTATC
AAGGTACAGCATCGTAGGGTTCCCCTAAACTTGCCCTGTTTTTGTTTTTTTAGTTTGTTATCCC
CTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAATGTCCCAAGCAAGGATAGGGAAGGGGA
ATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTGCCAGACCTGTTTGGGGCAGTGGGGAGC
AAACCTAGATAAGGACCTGTTTGGGGCAGCAGGGAGCAAAATCTCCTTTAACAACCAAGCAGTT
CCTCATTCACATCAACAGAGCGAGGCTGTGATAACTTAGGAGGCAGCAATCCTAATAGTCCTTC
AGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAGGTAGTGTCAAGCCAGAGATTCGGGGCA
GTAGATAAATGTTCATTTTACTGATGCACTTTAGTTTTTGGTCTGTTACCTGTTTTCCAGAAAT
TTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCAGTGAGAGCCCCAATCCCTGCAGTTTTG
TGGCTTCAAGTGTGGGTGGACAGTCCTAATGGGGATCTCCAGCTCCTTCCTGTGGGCTGCCACA
GACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGTTGTGGCTCTGAGCTGCTCTACAGAGCT
TCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTACCAGTAGGACATAATTTTTGGCTCTCCC
TATTCACAACCAGTGCACAGTTTGACACAGTGGCCTCAGGTTCACAGTGCACCATGTCACTGTG
CTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTATTCCTGGAGTGACATGCCACCCCGAAT
GGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAGCTGCTGCCTCCAGCCTCTGGCTTGAGA
ACTTACTAAAGGCACTTCCTTCCTGTTAAACCCCTGTTAACTCTCCATAAATTTGGTGATTCTC
TGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAGCCAAACTCCACCTTCTGTGCTTTTTGC
TTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAAGAATGACAAGATATTAAAAAAAAAAAA
GAAAGAAAAAAAAAAAAACACCTACTTTTAAAGAAAATACCTAACAGATTTTTAATATAGTTAT
CTCTACCACTTTCTTTTCTAGTTTCTTGATTTTCAGCTCAGGCTGCATTCTAACTCATACTGTG
AAGACAAAGGTGTTTTTGATTCAGAAATATATGAAATCTGCATAGTCTTAATTTGTAAAAAATA
AAGAAAATTCCTTAACCTTT

hide sequence

RefSeq Acc Id:

XM_024449174 ⟹ XP_024304942

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,750,608 - 49,764,934 (+)	NCBI

Sequence:

show sequence

AGGAGAGAGCAACAACCTTAGTAGGTTCTGCAGCTTCTCACTGTATCTGTCCTTAAGAACAGAA
TTAACAAAAGTTCTGAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCG
AAAGATCAACTTTGATGCGCTTTTAAAATTTTCTCATATAACCCCGTCAACGCAGCAGCACCTG
AAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTCCATA
TGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTG
GCTGATGGCAACACCTCATAGCCATGAAACTGAACAGAAAAGACTGGGACTTCTTGCTGGATTT
GCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCA
TCCTTCCCACTGCTTTCATGGGCACGGCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTA
TGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGCTTGTTGCTT
TTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGG
GACTGGTGGTCATGTGTGGCTTCGTCCTTTTTGATACTCAACTCATTATTGAAAAGGCCGAACA
TGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGA
AAACTCATGATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGAAGTGACC
ATCCAGCCTTTCCCAATTAGACTTCCTCTCCTTCCACCCCTCATTTCCTTTTTGCACACATTAC
AGGTGGTGTGTTCTGTGATAATGAAAAGCATCAGAAAAGCTTTTGTACTTTGTGGTTTCCTCTA
TTTTGAATTTTTTGATCAAAAAACTGATTAGCAGAATATAGTTTGGAGTTTGGCTTCATCTTCC
TGGGGTTCCCCTCACTCCCTTTTTTGTCAACCCCATCTGTAGCCTCTTCCTCTACTCAGGCAGT
CGACCCGCCACGATGAGAAGTGGGACCAGCAGAGGGCGCCAACTTCAGGAGTCCGCTTTCCCAC
CAGGCTTCATTCACCCAGTGGACCTGAACTGTTTGGTAGAGCCACCCGGCCCTTCCTTCCTCAT
TGTTGTTTGGTATGCGCACAGTTCCTGTGGGACTGGGCCGTGAGTTTTCCATTGGAAAGAAGTT
CAGTGGTCCCATTGTTAACTCAGCCTCAAATCTCAACTGTCAGGCCCTACAAAGAAAATGGAGA
GCCTCTTCTGGTGGATGCTTTGCTCCCTCTGAGCTGCCCATGCTGGTCTGGCAAACACACCTTT
CTGCTTTGCCTTCACAAAAGTAATGTGTTCCCTTTCCCACCCCTTGCCTGACCCTCAGGGAGTC
AGCCTGCTTCCATCCATGGGTGGGAAGACTTCAGCACAAAGGAAAGACTAATTCTTGTCAGGCA
TTTTTGAAAAGGCTGATTATGTGTATCAAGGTACAGCATCGTAGGGTTCCCCTAAACTTGCCCT
GTTTTTGTTTTTTTAGTTTGTTATCCCCTTACTGAGCGGCCTCTACTAGGTGGCTGTGATTAAA
TGTCCCAAGCAAGGATAGGGAAGGGGAATGGTTGAGCCTCTGGAGATCATTGTAACCAATCCTG
CCAGACCTGTTTGGGGCAGTGGGGAGCAAACCTAGATAAGGACCTGTTTGGGGCAGCAGGGAGC
AAAATCTCCTTTAACAACCAAGCAGTTCCTCATTCACATCAACAGAGCGAGGCTGTGATAACTT
AGGAGGCAGCAATCCTAATAGTCCTTCAGTGCATTTTAGTCTGTCTCCAACTGGACACCAGTAG
GTAGTGTCAAGCCAGAGATTCGGGGCAGTAGATAAATGTTCATTTTACTGATGCACTTTAGTTT
TTGGTCTGTTACCTGTTTTCCAGAAATTTGTGGCCTTTTAGGCGGGAGTTAGGCGACCAAACCA
GTGAGAGCCCCAATCCCTGCAGTTTTGTGGCTTCAAGTGTGGGTGGACAGTCCTAATGGGGATC
TCCAGCTCCTTCCTGTGGGCTGCCACAGACAGCTACCCCCAGAAGGGTCAATGTTGGGAGTGGT
TGTGGCTCTGAGCTGCTCTACAGAGCTTCAGTGTGAGAGGATCGAGCCATTGAAAGCTCATTAC
CAGTAGGACATAATTTTTGGCTCTCCCTATTCACAACCAGTGCACAGTTTGACACAGTGGCCTC
AGGTTCACAGTGCACCATGTCACTGTGCTATCCTACGAAATCATTTGTTTCTAAGTTGTGTTTA
TTCCTGGAGTGACATGCCACCCCGAATGGCTCACTTTCACTGAGGATGCTGTCCTCTGATTTAG
CTGCTGCCTCCAGCCTCTGGCTTGAGAACTTACTAAAGGCACTTCCTTCCTGTTAAACCCCTGT
TAACTCTCCATAAATTTGGTGATTCTCTGCTAGGCCTAAGATTTTGAGTTAACATCTCTTGAAG
CCAAACTCCACCTTCTGTGCTTTTTGCTTGGGATAATGGAGTTTTTCTTTAGAAACAGTGCCAA
GAATGACAAGATATTAAAAAAAAAAAAGAAAGAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_047429491 ⟹ XP_047285447

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI

RefSeq Acc Id:

XM_047429492 ⟹ XP_047285448

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,764,934 (+)	NCBI

RefSeq Acc Id:

XM_047429493 ⟹ XP_047285449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,957 - 49,764,934 (+)	NCBI

RefSeq Acc Id:

XM_054373111 ⟹ XP_054229086

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	49,704,579 - 49,727,957 (+)	NCBI

RefSeq Acc Id:

XM_054373112 ⟹ XP_054229087

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	49,713,687 - 49,727,957 (+)	NCBI

RefSeq Acc Id:

XM_054373113 ⟹ XP_054229088

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	49,704,979 - 49,727,957 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001092046	(Get FASTA)	NCBI Sequence Viewer
	NP_001401391	(Get FASTA)	NCBI Sequence Viewer
	NP_001401392	(Get FASTA)	NCBI Sequence Viewer
	NP_001401393	(Get FASTA)	NCBI Sequence Viewer
	NP_003208	(Get FASTA)	NCBI Sequence Viewer
	XP_005269183	(Get FASTA)	NCBI Sequence Viewer
	XP_024304942	(Get FASTA)	NCBI Sequence Viewer
	XP_047285447	(Get FASTA)	NCBI Sequence Viewer
	XP_047285448	(Get FASTA)	NCBI Sequence Viewer
	XP_047285449	(Get FASTA)	NCBI Sequence Viewer
	XP_054229086	(Get FASTA)	NCBI Sequence Viewer
	XP_054229087	(Get FASTA)	NCBI Sequence Viewer
	XP_054229088	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB87479	(Get FASTA)	NCBI Sequence Viewer
	AAH00916	(Get FASTA)	NCBI Sequence Viewer
	AAH36203	(Get FASTA)	NCBI Sequence Viewer
	AAU29521	(Get FASTA)	NCBI Sequence Viewer
	BAG35171	(Get FASTA)	NCBI Sequence Viewer
	BAG54105	(Get FASTA)	NCBI Sequence Viewer
	BAH13075	(Get FASTA)	NCBI Sequence Viewer
	BAH14220	(Get FASTA)	NCBI Sequence Viewer
	CAA53472	(Get FASTA)	NCBI Sequence Viewer
	CAH05396	(Get FASTA)	NCBI Sequence Viewer
	EAW58089	(Get FASTA)	NCBI Sequence Viewer
	EAW58090	(Get FASTA)	NCBI Sequence Viewer
	EAW58091	(Get FASTA)	NCBI Sequence Viewer
	EAW58092	(Get FASTA)	NCBI Sequence Viewer
	EAW58093	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000267115
	ENSP00000267115.5
	ENSP00000378454.4
	ENSP00000389277
	ENSP00000389277.1
	ENSP00000446668.1
	ENSP00000446734
	ENSP00000446734.1
	ENSP00000447030.1
	ENSP00000447074.1
	ENSP00000447400.1
	ENSP00000447888.1
	ENSP00000448036
	ENSP00000448036.1
	ENSP00000448269.1
	ENSP00000448612.1
	ENSP00000449000.1
	ENSP00000449421.1
	ENSP00000449904.1
	ENSP00000449907.1
	ENSP00000450050.1
	ENSP00000450158
	ENSP00000450158.2
	ENSP00000450159.1
	ENSP00000450265.1
	ENSP00000450305.1
	ENSP00000450417.1
GenBank Protein	P55061	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003208 ⟸ NM_003217
- Peptide Label:	isoform 1
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), B3KWE3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGS LILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCF TLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLI IEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK hide sequence

RefSeq Acc Id:	NP_001092046 ⟸ NM_001098576
- Peptide Label:	isoform 2
- UniProtKB:	B3KWE3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSHSSVTREAPQLLSQRQRREVRGVWGWGCLPGPRGGPALFGLVTFGQSGDCCTDSGTMNIFDR KINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIW LMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCFTLSALY ARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEH GDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK hide sequence

RefSeq Acc Id:	XP_005269183 ⟸ XM_005269126
- Peptide Label:	isoform X1
- UniProtKB:	B3KWE3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSHSSVTREAPQLLSQRQRREVRGVWGWGCLPGPRGGPALFGLVTFGQSGDCCTDSGTMNIFDR KINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIW LMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCFTLSALY ARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEH GDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK hide sequence

RefSeq Acc Id:	XP_024304942 ⟸ XM_024449174
- Peptide Label:	isoform X2
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot), B3KWE3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGS LILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCF TLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLI IEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK hide sequence

Ensembl Acc Id:

ENSP00000389277 ⟸ ENST00000423828

Ensembl Acc Id:

ENSP00000267115 ⟸ ENST00000267115

Ensembl Acc Id:

ENSP00000448612 ⟸ ENST00000546914

Ensembl Acc Id:

ENSP00000450159 ⟸ ENST00000546796

Ensembl Acc Id:

ENSP00000448269 ⟸ ENST00000547832

Ensembl Acc Id:

ENSP00000447030 ⟸ ENST00000547798

Ensembl Acc Id:

ENSP00000447400 ⟸ ENST00000547187

Ensembl Acc Id:

ENSP00000449000 ⟸ ENST00000548809

Ensembl Acc Id:

ENSP00000447074 ⟸ ENST00000548894

Ensembl Acc Id:

ENSP00000447888 ⟸ ENST00000548713

Ensembl Acc Id:

ENSP00000450265 ⟸ ENST00000548201

Ensembl Acc Id:

ENSP00000446668 ⟸ ENST00000549966

Ensembl Acc Id:

ENSP00000448036 ⟸ ENST00000549385

Ensembl Acc Id:

ENSP00000450305 ⟸ ENST00000549130

Ensembl Acc Id:

ENSP00000449904 ⟸ ENST00000549445

Ensembl Acc Id:

ENSP00000449421 ⟸ ENST00000550951

Ensembl Acc Id:

ENSP00000449907 ⟸ ENST00000550445

Ensembl Acc Id:

ENSP00000450417 ⟸ ENST00000551154

Ensembl Acc Id:

ENSP00000450158 ⟸ ENST00000552370

Ensembl Acc Id:

ENSP00000378454 ⟸ ENST00000395006

Ensembl Acc Id:

ENSP00000446734 ⟸ ENST00000552699

Ensembl Acc Id:

ENSP00000450050 ⟸ ENST00000552635

RefSeq Acc Id:	XP_047285447 ⟸ XM_047429491
- Peptide Label:	isoform X2
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047285448 ⟸ XM_047429492
- Peptide Label:	isoform X2
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047285449 ⟸ XM_047429493
- Peptide Label:	isoform X2
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001401393 ⟸ NM_001414464
- Peptide Label:	isoform 1
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001401392 ⟸ NM_001414463
- Peptide Label:	isoform 1
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	NP_001401391 ⟸ NM_001414462
- Peptide Label:	isoform 1
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054229086 ⟸ XM_054373111
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054229088 ⟸ XM_054373113
- Peptide Label:	isoform X2
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054229087 ⟸ XM_054373112
- Peptide Label:	isoform X2
- UniProtKB:	Q643A7 (UniProtKB/Swiss-Prot), P55061 (UniProtKB/Swiss-Prot), O14938 (UniProtKB/Swiss-Prot), F8W034 (UniProtKB/Swiss-Prot), B2R5M4 (UniProtKB/Swiss-Prot), Q96J50 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P55061-F1-model_v2	AlphaFold	P55061	1-237	view protein structure

Promoters

RGD ID:

6790548

Promoter ID:

HG_KWN:15574

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000395006, NM_001098576, NM_003217, UC001RUZ.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	48,421,526 - 48,422,247 (+)	MPROMDB

RGD ID:

7223855

Promoter ID:

EPDNEW_H17673

Type:

initiation region

Name:

TMBIM6_1

Description:

transmembrane BAX inhibitor motif containing 6

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	49,741,557 - 49,741,617	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11723	AgrOrtholog
COSMIC	TMBIM6	COSMIC
Ensembl Genes	ENSG00000139644	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000267115	ENTREZGENE
	ENST00000267115.10	UniProtKB/Swiss-Prot
	ENST00000395006.8	UniProtKB/Swiss-Prot
	ENST00000423828	ENTREZGENE
	ENST00000423828.5	UniProtKB/Swiss-Prot
	ENST00000546796.5	UniProtKB/TrEMBL
	ENST00000546914.5	UniProtKB/TrEMBL
	ENST00000547187.5	UniProtKB/TrEMBL
	ENST00000547798.1	UniProtKB/TrEMBL
	ENST00000547832.5	UniProtKB/TrEMBL
	ENST00000548201.5	UniProtKB/TrEMBL
	ENST00000548713.5	UniProtKB/TrEMBL
	ENST00000548809.5	UniProtKB/TrEMBL
	ENST00000548894.5	UniProtKB/TrEMBL
	ENST00000549130.5	UniProtKB/TrEMBL
	ENST00000549385	ENTREZGENE
	ENST00000549385.5	UniProtKB/Swiss-Prot
	ENST00000549445.5	UniProtKB/TrEMBL
	ENST00000549966.5	UniProtKB/TrEMBL
	ENST00000550445.5	UniProtKB/TrEMBL
	ENST00000550951.5	UniProtKB/TrEMBL
	ENST00000551154.5	UniProtKB/TrEMBL
	ENST00000552370	ENTREZGENE
	ENST00000552370.5	UniProtKB/Swiss-Prot
	ENST00000552635.5	UniProtKB/TrEMBL
	ENST00000552699	ENTREZGENE
	ENST00000552699.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000139644	GTEx
HGNC ID	HGNC:11723	ENTREZGENE
Human Proteome Map	TMBIM6	Human Proteome Map
InterPro	Bax_inhbtr1_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Bax_inhibitor_1-related	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:7009	UniProtKB/Swiss-Prot
NCBI Gene	7009	ENTREZGENE
OMIM	600748	OMIM
PANTHER	BAX INHIBITOR 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR23291	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Bax1-I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36440	PharmGKB
PROSITE	BI1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0G2JKZ4_HUMAN	UniProtKB/TrEMBL
	B2R5M4	ENTREZGENE
	B3KWE3	ENTREZGENE, UniProtKB/TrEMBL
	BI1_HUMAN	UniProtKB/Swiss-Prot
	F8VPI1_HUMAN	UniProtKB/TrEMBL
	F8VQQ5_HUMAN	UniProtKB/TrEMBL
	F8VQW0_HUMAN	UniProtKB/TrEMBL
	F8VR05_HUMAN	UniProtKB/TrEMBL
	F8VSI7_HUMAN	UniProtKB/TrEMBL
	F8VVJ4_HUMAN	UniProtKB/TrEMBL
	F8VX73_HUMAN	UniProtKB/TrEMBL
	F8VY06_HUMAN	UniProtKB/TrEMBL
	F8W034	ENTREZGENE
	F8W086_HUMAN	UniProtKB/TrEMBL
	F8W1G3_HUMAN	UniProtKB/TrEMBL
	F8W1V3_HUMAN	UniProtKB/TrEMBL
	F8W201_HUMAN	UniProtKB/TrEMBL
	O14938	ENTREZGENE
	P55061	ENTREZGENE
	Q643A7	ENTREZGENE
	Q96J50	ENTREZGENE
UniProt Secondary	B2R5M4	UniProtKB/Swiss-Prot
	F8W034	UniProtKB/Swiss-Prot
	O14938	UniProtKB/Swiss-Prot
	Q643A7	UniProtKB/Swiss-Prot
	Q96J50	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)

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