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Gene: FAM171B (family with sequence similarity 171 member B) Homo sapiens

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Symbol:

FAM171B

Name:

family with sequence similarity 171 member B

RGD ID:

1354368

HGNC Page

HGNC:29412

Description:

Predicted to be located in membrane. Predicted to be active in synapse.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

family with sequence similarity 171, member B; FLJ34104; KIAA1946

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	2	186,694,060 - 186,765,959 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	186,694,060 - 186,765,959 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	187,558,787 - 187,630,686 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	187,267,034 - 187,336,759 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	187,384,294 - 187,454,016	NCBI
Celera	2	181,154,411 - 181,224,139 (+)	NCBI		Celera
Cytogenetic Map	2	q32.1	NCBI
HuRef	2	179,418,653 - 179,488,386 (+)	NCBI		HuRef
CHM1_1	2	187,564,785 - 187,634,506 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	187,183,195 - 187,255,094 (+)	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

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

17beta-estradiol (EXP,ISO)

17beta-estradiol 3-benzoate (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

2-hydroxypropanoic acid (EXP)

3,3',5-triiodo-L-thyronine (EXP)

3,4-methylenedioxymethamphetamine (ISO)

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

aflatoxin B1 (EXP,ISO)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

cadmium dichloride (EXP)

cantharidin (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

DDT (ISO)

dexamethasone (EXP)

dichloroacetic acid (ISO)

diuron (ISO)

dorsomorphin (EXP)

epoxiconazole (ISO)

ethanol (ISO)

FR900359 (EXP)

gentamycin (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

lead(0) (EXP)

manganese(II) chloride (ISO)

methylisothiazolinone (EXP)

N-methyl-4-phenylpyridinium (EXP,ISO)

nickel sulfate (EXP)

ozone (ISO)

paracetamol (ISO)

pioglitazone (ISO)

potassium chromate (EXP)

progesterone (EXP)

propiconazole (ISO)

rac-lactic acid (EXP)

raloxifene (EXP)

resveratrol (EXP)

rotenone (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

tamoxifen (ISO)

testosterone (ISO)

tetrachloromethane (ISO)

theophylline (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

Tributyltin oxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP)

vincristine (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

membrane (IEA)

synapse (IEA,ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:11853319	PMID:14702039	PMID:21988832	PMID:25468996	PMID:26638075	PMID:27880917	PMID:28514442	PMID:30861353	PMID:31871319	PMID:33961781	PMID:34052262	PMID:34079125
PMID:34702444	PMID:35384245	PMID:35844135	PMID:36976175	PMID:37478010	PMID:37689310	PMID:37915048	PMID:38117590

Genomics

Comparative Map Data

FAM171B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	186,694,060 - 186,765,959 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	186,694,060 - 186,765,959 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	187,558,787 - 187,630,686 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	187,267,034 - 187,336,759 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	187,384,294 - 187,454,016	NCBI
Celera	2	181,154,411 - 181,224,139 (+)	NCBI		Celera
Cytogenetic Map	2	q32.1	NCBI
HuRef	2	179,418,653 - 179,488,386 (+)	NCBI		HuRef
CHM1_1	2	187,564,785 - 187,634,506 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	187,183,195 - 187,255,094 (+)	NCBI		T2T-CHM13v2.0

Fam171b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	83,642,889 - 83,713,878 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	83,642,980 - 83,713,830 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	83,812,563 - 83,883,534 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	83,812,636 - 83,883,486 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	83,652,885 - 83,721,515 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	83,613,567 - 83,682,197 (+)	NCBI		MGSCv36	mm8
MGSCv36	2	84,723,794 - 84,798,606 (+)	NCBI		MGSCv36	mm8
Celera	2	85,461,824 - 85,536,326 (+)	NCBI		Celera
Cytogenetic Map	2	D	NCBI
cM Map	2	49.33	NCBI

Fam171b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	89,337,566 - 89,392,973 (+)	NCBI		GRCr8
mRatBN7.2	3	68,930,755 - 68,986,113 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	68,930,822 - 68,986,127 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	3	71,210,048 - 71,265,419 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	71,210,301 - 71,262,615 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	77,735,454 - 77,790,821 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	67,037,142 - 67,092,329 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	68,301,422 - 68,356,773 (+)	NCBI		Celera
Cytogenetic Map	3	q24	NCBI

Fam171b
(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_004955403	11,509,969 - 11,532,616 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	11,512,731 - 11,532,550 (-)	NCBI	ChiLan1.0	ChiLan1.0

FAM171B
(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	13	89,372,526 - 89,445,428 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	89,387,518 - 89,460,408 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	73,985,579 - 74,058,803 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	191,784,554 - 191,859,440 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	191,786,078 - 191,859,440 (+)	Ensembl	panpan1.1		panPan2

FAM171B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	36	28,934,725 - 28,961,613 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	36	28,905,006 - 28,961,832 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	36	28,801,621 - 28,860,554 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	36	29,128,551 - 29,188,402 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	36	29,128,551 - 29,188,377 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	36	29,185,301 - 29,245,138 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	36	29,120,471 - 29,180,586 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	36	29,288,267 - 29,348,107 (+)	NCBI		UU_Cfam_GSD_1.0

Fam171b
(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_024405303	146,106,419 - 146,177,805 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936506	10,660,196 - 10,731,659 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936506	10,662,513 - 10,731,653 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FAM171B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	91,719,511 - 91,798,010 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	91,724,228 - 91,798,012 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	101,733,215 - 101,806,942 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FAM171B
(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	10	72,229,785 - 72,301,767 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	72,229,841 - 72,301,902 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	127,204,559 - 127,276,880 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fam171b
(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_004624899	3,157,724 - 3,189,847 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FAM171B
41 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	copy number loss	See cases [RCV000050980]	Chr2:174898848..203941548 [GRCh38] Chr2:175763576..204806271 [GRCh37] Chr2:175471822..204514516 [NCBI36] Chr2:2q31.1-33.2	pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	copy number loss	See cases [RCV000052558]	Chr2:176304445..202039790 [GRCh38] Chr2:177169173..202904513 [GRCh37] Chr2:176877419..202612758 [NCBI36] Chr2:2q31.1-33.1	pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	copy number loss	See cases [RCV000052559]	Chr2:177874070..198525492 [GRCh38] Chr2:178738797..199390216 [GRCh37] Chr2:178447043..199098461 [NCBI36] Chr2:2q31.2-33.1	pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	copy number loss	See cases [RCV000135876]	Chr2:186027472..201059372 [GRCh38] Chr2:186892199..201924095 [GRCh37] Chr2:186600444..201632340 [NCBI36] Chr2:2q32.1-33.1	pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	copy number loss	See cases [RCV000136850]	Chr2:171429233..189179568 [GRCh38] Chr2:172285743..190044294 [GRCh37] Chr2:171993989..189752539 [NCBI36] Chr2:2q31.1-32.2	pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	copy number loss	See cases [RCV000136861]	Chr2:174634502..189000964 [GRCh38] Chr2:175499230..189865690 [GRCh37] Chr2:175207476..189573935 [NCBI36] Chr2:2q31.1-32.2	pathogenic
GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	copy number loss	See cases [RCV000137116]	Chr2:180942902..187372388 [GRCh38] Chr2:181807629..188237115 [GRCh37] Chr2:181515874..187945360 [NCBI36] Chr2:2q31.3-32.1	pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	copy number loss	See cases [RCV000138253]	Chr2:181758701..192015392 [GRCh38] Chr2:182623428..192880118 [GRCh37] Chr2:182331673..192588363 [NCBI36] Chr2:2q31.3-32.3	pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	copy number gain	See cases [RCV000139446]	Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2	pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	copy number loss	See cases [RCV000141735]	Chr2:177827730..195125329 [GRCh38] Chr2:178692457..195990053 [GRCh37] Chr2:178400703..195698298 [NCBI36] Chr2:2q31.2-32.3	pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	copy number loss	See cases [RCV000143484]	Chr2:176086763..193201970 [GRCh38] Chr2:176951491..194066696 [GRCh37] Chr2:176659737..193774941 [NCBI36] Chr2:2q31.1-32.3	pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	copy number loss	See cases [RCV000239432]	Chr2:177315153..196375520 [GRCh37] Chr2:2q31.1-32.3	pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3	copy number gain	See cases [RCV000448271]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_177454.4(FAM171B):c.1391A>G (p.Asn464Ser)	single nucleotide variant	not specified [RCV004303377]	Chr2:186761733 [GRCh38] Chr2:187626460 [GRCh37] Chr2:2q32.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q32.1(chr2:187370142-188535099)x4	copy number gain	not provided [RCV000740779]	Chr2:187370142..188535099 [GRCh37] Chr2:2q32.1	uncertain significance
GRCh37/hg19 2q32.1(chr2:187440683-187625351)x3	copy number gain	not provided [RCV000740780]	Chr2:187440683..187625351 [GRCh37] Chr2:2q32.1	benign
NM_177454.4(FAM171B):c.147G>A (p.Gln49=)	single nucleotide variant	not provided [RCV000883680]	Chr2:186694320 [GRCh38] Chr2:187559047 [GRCh37] Chr2:2q32.1	benign
NM_177454.4(FAM171B):c.330G>A (p.Thr110=)	single nucleotide variant	not provided [RCV000885133]	Chr2:186740319 [GRCh38] Chr2:187605046 [GRCh37] Chr2:2q32.1	benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787402]	Chr2:186356601..188906835 [GRCh37] Chr2:2q32.1	pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	copy number loss	not provided [RCV000848216]	Chr2:167329586..192756373 [GRCh37] Chr2:2q24.3-32.3	pathogenic
GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1	copy number loss	not provided [RCV000845864]	Chr2:186861444..188658263 [GRCh37] Chr2:2q32.1	uncertain significance
GRCh37/hg19 2q32.1(chr2:187445266-187627894)x3	copy number gain	not provided [RCV000849474]	Chr2:187445266..187627894 [GRCh37] Chr2:2q32.1	uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	copy number gain	not provided [RCV001005349]	Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34	pathogenic
GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3	copy number gain	not provided [RCV000847709]	Chr2:186234826..188972311 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.407C>T (p.Thr136Ile)	single nucleotide variant	not specified [RCV004291356]	Chr2:186740396 [GRCh38] Chr2:187605123 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.605T>C (p.Leu202Ser)	single nucleotide variant	not specified [RCV004305029]	Chr2:186747131 [GRCh38] Chr2:187611858 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.748C>T (p.Pro250Ser)	single nucleotide variant	not provided [RCV000974935]	Chr2:186751157 [GRCh38] Chr2:187615884 [GRCh37] Chr2:2q32.1	benign
NM_177454.4(FAM171B):c.1563G>A (p.Ala521=)	single nucleotide variant	not provided [RCV000968549]	Chr2:186761905 [GRCh38] Chr2:187626632 [GRCh37] Chr2:2q32.1	benign
NM_177454.4(FAM171B):c.284G>A (p.Arg95His)	single nucleotide variant	not provided [RCV000957829]	Chr2:186740273 [GRCh38] Chr2:187605000 [GRCh37] Chr2:2q32.1	benign
NM_177454.4(FAM171B):c.2472C>T (p.Pro824=)	single nucleotide variant	not provided [RCV000956013]	Chr2:186762814 [GRCh38] Chr2:187627541 [GRCh37] Chr2:2q32.1	benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	copy number loss	not provided [RCV001005359]	Chr2:174690039..195521582 [GRCh37] Chr2:2q31.1-32.3	pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	copy number gain	See cases [RCV001263052]	Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3	pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	copy number loss	Chromosome 2q32-q33 deletion syndrome [RCV002280608]	Chr2:185697659..213002074 [GRCh37] Chr2:2q32.1-34	pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	copy number gain	not specified [RCV002053265]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q32.1(chr2:187466416-188487473)x3	copy number gain	not provided [RCV002475015]	Chr2:187466416..188487473 [GRCh37] Chr2:2q32.1	uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	copy number loss	not provided [RCV002472632]	Chr2:187152754..199960525 [GRCh37] Chr2:2q32.1-33.1	pathogenic
NM_177454.4(FAM171B):c.1420C>A (p.Gln474Lys)	single nucleotide variant	not specified [RCV004222773]	Chr2:186761762 [GRCh38] Chr2:187626489 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1480C>A (p.Pro494Thr)	single nucleotide variant	not specified [RCV004231049]	Chr2:186761822 [GRCh38] Chr2:187626549 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1868A>T (p.Tyr623Phe)	single nucleotide variant	not specified [RCV004118708]	Chr2:186762210 [GRCh38] Chr2:187626937 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.181G>A (p.Glu61Lys)	single nucleotide variant	not specified [RCV004132234]	Chr2:186694354 [GRCh38] Chr2:187559081 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.2387C>G (p.Thr796Ser)	single nucleotide variant	not specified [RCV004204640]	Chr2:186762729 [GRCh38] Chr2:187627456 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.937A>G (p.Asn313Asp)	single nucleotide variant	not specified [RCV004160256]	Chr2:186753974 [GRCh38] Chr2:187618701 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.886A>G (p.Met296Val)	single nucleotide variant	not specified [RCV004235170]	Chr2:186751295 [GRCh38] Chr2:187616022 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1736G>A (p.Arg579Gln)	single nucleotide variant	not specified [RCV004132588]	Chr2:186762078 [GRCh38] Chr2:187626805 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.794T>C (p.Leu265Pro)	single nucleotide variant	not specified [RCV004281193]	Chr2:186751203 [GRCh38] Chr2:187615930 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.2459G>A (p.Arg820His)	single nucleotide variant	not specified [RCV004330820]	Chr2:186762801 [GRCh38] Chr2:187627528 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1463A>G (p.Asn488Ser)	single nucleotide variant	not specified [RCV004248404]	Chr2:186761805 [GRCh38] Chr2:187626532 [GRCh37] Chr2:2q32.1	likely benign
NM_177454.4(FAM171B):c.871G>T (p.Ala291Ser)	single nucleotide variant	not specified [RCV004259033]	Chr2:186751280 [GRCh38] Chr2:187616007 [GRCh37] Chr2:2q32.1	uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	copy number gain	See cases [RCV003329558]	Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1	pathogenic
NM_177454.4(FAM171B):c.2336C>T (p.Ser779Leu)	single nucleotide variant	not specified [RCV004334911]	Chr2:186762678 [GRCh38] Chr2:187627405 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1348A>G (p.Arg450Gly)	single nucleotide variant	not specified [RCV004351178]	Chr2:186761690 [GRCh38] Chr2:187626417 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1705G>A (p.Val569Ile)	single nucleotide variant	not specified [RCV004342065]	Chr2:186762047 [GRCh38] Chr2:187626774 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.796A>C (p.Lys266Gln)	single nucleotide variant	not specified [RCV004356323]	Chr2:186751205 [GRCh38] Chr2:187615932 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.52G>T (p.Val18Leu)	single nucleotide variant	not specified [RCV004338260]	Chr2:186694225 [GRCh38] Chr2:187558952 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1657C>A (p.Gln553Lys)	single nucleotide variant	not specified [RCV004380979]	Chr2:186761999 [GRCh38] Chr2:187626726 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.827C>T (p.Pro276Leu)	single nucleotide variant	not specified [RCV004380985]	Chr2:186751236 [GRCh38] Chr2:187615963 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.199A>G (p.Thr67Ala)	single nucleotide variant	not specified [RCV004380980]	Chr2:186694372 [GRCh38] Chr2:187559099 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.239T>C (p.Val80Ala)	single nucleotide variant	not specified [RCV004380981]	Chr2:186740228 [GRCh38] Chr2:187604955 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.811A>G (p.Ile271Val)	single nucleotide variant	not specified [RCV004380984]	Chr2:186751220 [GRCh38] Chr2:187615947 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.2408C>A (p.Pro803Gln)	single nucleotide variant	not specified [RCV004380982]	Chr2:186762750 [GRCh38] Chr2:187627477 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1004G>A (p.Gly335Glu)	single nucleotide variant	not specified [RCV004380978]	Chr2:186754041 [GRCh38] Chr2:187618768 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.863G>A (p.Arg288His)	single nucleotide variant	not specified [RCV004625375]	Chr2:186751272 [GRCh38] Chr2:187615999 [GRCh37] Chr2:2q32.1	likely benign
NM_177454.4(FAM171B):c.1145G>A (p.Cys382Tyr)	single nucleotide variant	not specified [RCV004625376]	Chr2:186761487 [GRCh38] Chr2:187626214 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.640G>A (p.Val214Ile)	single nucleotide variant	not specified [RCV004625377]	Chr2:186747166 [GRCh38] Chr2:187611893 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.2072A>C (p.Asp691Ala)	single nucleotide variant	not specified [RCV004625378]	Chr2:186762414 [GRCh38] Chr2:187627141 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.733A>G (p.Asn245Asp)	single nucleotide variant	not specified [RCV004625379]	Chr2:186751142 [GRCh38] Chr2:187615869 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.1769C>T (p.Pro590Leu)	single nucleotide variant	not specified [RCV004625380]	Chr2:186762111 [GRCh38] Chr2:187626838 [GRCh37] Chr2:2q32.1	uncertain significance
NM_177454.4(FAM171B):c.22G>T (p.Val8Phe)	single nucleotide variant	not specified [RCV004625381]	Chr2:186694195 [GRCh38] Chr2:187558922 [GRCh37] Chr2:2q32.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1056
Count of miRNA genes:	617
Interacting mature miRNAs:	721
Transcripts:	ENST00000304698
Prediction methods:	Miranda, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407167568	GWAS816544_H	corpus callosum posterior volume measurement QTL GWAS816544 (human)		2e-08	corpus callosum posterior volume measurement		2	186721872	186721873	Human
407056965	GWAS705941_H	blood protein measurement QTL GWAS705941 (human)		3e-13	blood protein measurement	blood protein measurement (CMO:0000028)	2	186736912	186736913	Human
407182275	GWAS831251_H	corpus callosum volume measurement QTL GWAS831251 (human)		2e-08	corpus callosum volume measurement		2	186755570	186755571	Human
407166157	GWAS815133_H	corpus callosum anterior volume measurement QTL GWAS815133 (human)		2e-09	corpus callosum anterior volume measurement		2	186721872	186721873	Human
407010971	GWAS659947_H	body height QTL GWAS659947 (human)		1e-09	body height (VT:0001253)	body height (CMO:0000106)	2	186761611	186761612	Human
407194298	GWAS843274_H	corpus callosum volume measurement QTL GWAS843274 (human)		1e-08	corpus callosum volume measurement		2	186721872	186721873	Human
406984349	GWAS633325_H	neuroimaging measurement, brain volume measurement QTL GWAS633325 (human)		3e-09	neuroimaging measurement, brain volume measurement	brain morphological measurement (CMO:0000136)	2	186724153	186724154	Human

Markers in Region

SHGC-85093

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	187,578,277 - 187,578,548	UniSTS	GRCh37
Build 36	2	187,286,522 - 187,286,793	RGD	NCBI36
Celera	2	181,173,894 - 181,174,165	RGD
Cytogenetic Map	2	q32.1	UniSTS
HuRef	2	179,438,147 - 179,438,418	UniSTS

WI-17454

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	187,561,011 - 187,561,143	UniSTS	GRCh37
Build 36	2	187,269,256 - 187,269,388	RGD	NCBI36
Celera	2	181,156,636 - 181,156,768	RGD
Cytogenetic Map	2	q32.1	UniSTS
HuRef	2	179,420,876 - 179,421,008	UniSTS
GeneMap99-GB4 RH Map	2	590.19	UniSTS
Whitehead-RH Map	2	918.4	UniSTS

D2S2028

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	187,623,516 - 187,623,719	UniSTS	GRCh37
Build 36	2	187,331,761 - 187,331,964	RGD	NCBI36
Celera	2	181,219,141 - 181,219,344	RGD
Cytogenetic Map	2	q32.1	UniSTS
HuRef	2	179,483,388 - 179,483,591	UniSTS
Whitehead-YAC Contig Map	2		UniSTS

WI-11078

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	187,630,456 - 187,630,630	UniSTS	GRCh37
Build 36	2	187,338,701 - 187,338,875	RGD	NCBI36
Celera	2	181,226,080 - 181,226,254	RGD
Cytogenetic Map	2	q32.1	UniSTS
HuRef	2	179,490,326 - 179,490,500	UniSTS
GeneMap99-GB4 RH Map	2	591.54	UniSTS
Whitehead-RH Map	2	919.8	UniSTS

D2S2500

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	187,604,970 - 187,605,151	UniSTS	GRCh37
Build 36	2	187,313,215 - 187,313,396	RGD	NCBI36
Celera	2	181,200,595 - 181,200,776	RGD
Cytogenetic Map	2	q32.1	UniSTS
HuRef	2	179,464,842 - 179,465,023	UniSTS
GeneMap99-GB4 RH Map	2	590.19	UniSTS
Whitehead-RH Map	2	917.2	UniSTS
Whitehead-YAC Contig Map	2		UniSTS

D2S225

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	2	q32.1	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
1204	2424	2788	2236	4961	1717	2337	4	615	1814	457	2268	7145	6328	51	3726	845	1729	1612	172

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_177454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB075826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC017101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF361495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC060872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000304698 ⟹ ENSP00000304108

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	186,694,060 - 186,765,959 (+)	Ensembl

Ensembl Acc Id:

ENST00000612606 ⟹ ENSP00000478477

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	186,694,080 - 186,751,257 (+)	Ensembl

RefSeq Acc Id:

NM_177454 ⟹ NP_803237

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	186,694,060 - 186,765,959 (+)	NCBI
GRCh37	2	187,558,789 - 187,630,686 (+)	NCBI
Build 36	2	187,267,034 - 187,336,759 (+)	NCBI Archive
Celera	2	181,154,411 - 181,224,139 (+)	RGD
HuRef	2	179,418,653 - 179,488,386 (+)	RGD
CHM1_1	2	187,564,785 - 187,634,506 (+)	NCBI
T2T-CHM13v2.0	2	187,183,195 - 187,255,094 (+)	NCBI

Sequence:

show sequence

GCAGATTGCGCGAGGGGGAGCGAGCGAGCGGGCGCTGCCAGGAGCCCGCAGCCCTGGCGCCCGC
CGCCGCCCGGAGCCCCGCAATATGCCGCCGCGGCCCTCTGGCTCTAGGCCATGGCGAGGCTCTG
CCGGCGTGTCCCCTGCACCCTGCTTCTCGGCCTGGCCGTGGTGCTGCTGAAAGCGCGGCTGGTC
CCCGCGGCCGCCAGAGCGGAACTCAGCCGCTCCGACCTCAGCCTCATCCAACAGCAGCAGCAGC
AGCAGCAACAACAACAACAACAGCAAAAGCAGCTGGAGGAGGCTGAGGAGGAGAGGACAGAGGT
GCCTGGGGCAACCTCCACCTTGACGGTTCCAGTGTCTGTATTTATGTTGAAAGTCCAGGTGAAT
GACATCATCAGTCGTCAGTACCTGAGCCAAGCAGTTGTAGAAGTGTTTGTAAACTACACGAAGA
CAAATTCCACAGTAACTAAAAGCAATGGAGCAGTGCTGATAAAAGTACCCTACAAATTAGGACT
TAGTTTAACTATTATTGCTTACAAAGATGGCTACGTGTTGACCCCTCTGCCTTGGAAAACCAGA
AGAATGCCAATATATTCATCAGTTACACTTTCACTGTTCCCGCAAAGCCAAGCAAATATATGGC
TATTTGAAGACACTGTTTTAATTACTGGAAAATTAGCTGATGCCAAGTCTCAACCAAGTGTTCA
GTTTTCAAAAGCCTTAATTAAACTTCCTGACAACCATCATATTAGCAACGTTACTGGCTATCTT
ACAGTTCTACAACAGTTTTTGAAAGTGGACAATTTTCTGCATACAACTGGAATTACTCTCAATA
AACCAGGTTTTGAAAACATTGAATTGACTCCTCTTGCTGCAATATGTGTGAAAATATATTCTGG
AGGAAAAGAACTAAAGGTCAATGGCTCTATTCAAGTTTCTCTTCCTCTTCTACGTCTGAATGAT
ATAAGTGCAGGGGATCGCATACCTGCTTGGACATTTGATATGAACACAGGTGCTTGGGTAAATC
ATGGTCGGGGAATGGTCAAGGAACATAACAATCATTTAATCTGGACATATGATGCACCACATTT
GGGGTACTGGATAGCAGCTCCACTTCCAGGAACTAGAGGTTCAGGTATAAATGAAGATTCCAAG
GACATAACTGCCTACCACACAGTGTTTCTTACAGCCATATTAGGAGGAACAATAGTCATTGTCA
TTGGATTTTTTGCTGTACTACTTTGTTATTGCAGGGACAAGTGTGGTACTCCACAGAAAAGAGA
AAGAAATATCACTAAACTTGAGGTCCTCAAGAGAGACCAGACAACTTCAACAACACACATAAAT
CATATCAGTACAGTTAAAGTTGCATTAAAAGCTGAGGACAAGTCGCAGTTATTCAATGCCAAAA
ACTCCTCATATAGTCCTCAGAAAAAGGAACCATCAAAGGCAGAAACAGAAGAAAGAGTTTCCAT
GGTAAAAACTCGGGACGATTTTAAAATCTACAATGAAGATGTTTCATTTCTATCAGTCAATCAA
AATAATTACTCAAGAAACCCAACACAGTCTTTGGAGCCCAATGTAGGGTCCAAACAACCTAAAC
ATATTAACAACAATCTATCTTCATCTCTAGGTGATGCTCAAGATGAAAAGAGGTATCTCACAGG
TAATGAGGAGGCGTATGGGCGTTCCCATATTCCTGAACAGCTTATGCATATTTACAGCCAACCC
ATTGCCATCCTTCAAACATCTGACCTTTTCTCCACACCGGAACAATTACATACTGCTAAGTCAG
CTACTTTGCCAAGAAAGGGACAGTTAGTCTATGGCCAATTGATGGAACCAGTAAATCGAGAGAA
CTTTACGCAGACCTTGCCCAAAATGCCAATTCATTCTCATGCACAGCCCCCAGATGCCAGGGAA
GAGGATATCATACTTGAAGGTCAACAGAGCCTGCCATCCCAGGCTTCAGATTGGAGCCGATACT
CAAGCAGCTTACTGGAATCCGTCTCTGTTCCTGGAACACTAAATGAGGCTGTTGTAATGACTCC
ATTTTCATCGGAACTTCAAGGAATTTCAGAACAGACCCTCCTGGAGCTGTCCAAAGGAAAGCCC
TCCCCGCATCCCAGAGCCTGGTTTGTGTCTCTTGATGGAAAGCCAGTTGCACAAGTGAGGCACT
CCTTTATAGACCTGAAAAAGGGCAAGAGAACCCAGAGCAATGACACCAGTCTGGACTCTGGGGT
GGACATGAATGAGCTTCACTCAAGTAGAAAGCTCGAGAGGGAGAAAACATTCATCAAAAGCATG
CATCAGCCCAAGATCCTTTACTTAGAAGATTTAGACCTAAGCAGCAGTGAGAGTGGAACCACCG
TCTGTTCCCCTGAGGACCCAGCTTTAAGGCACATCCTAGATGGAGGGAGTGGAGTGATCATGGA
GCACCCTGGAGAAGAGTCGCCAGGAAGGAAAAGCACTGTTGAAGATTTTGAAGCTAATACATCC
CCCACTAAAAGAAGGGGCAGACCACCACTAGCCAAAAGAGATAGCAAGACTAACATCTGGAAGA
AGCGAGAGGAACGCCCACTGATTCCCATAAATTAACTCCAATGGGGATTGTGTGTCTGCTGTCT
CGTGCTGTTTATTCTTGCTTCTTGTTGTAAATTGCAGTACGAACTTAAGAAAATGAGACTGAGC
AATCTCATGGTTCTTGGACATGTCTCAAGCAGAGTAAATGGTAATTCAGTAATCAGAGAGAAAG
ATACCAAGGAATGCTTTTTCTGGCCTATTCATTTATTTTTGGGTGATGAATTTACAGTATCTAA
GTTTTCAAAATGTAAAATAGCTTCAAGATGTTAGTTATCTGAAAATGTTGCTCAGCCAGCCAGT
TTGGCCTTGACTCTCTTAAGAATAACAGTGAAATATATACTCCTCAAGTTGCCTCCAAAAATGT
TGCCTCTACCATGGTGACTACCCCATGGAACATTTAGAAACAAAACTGACTTCAGGCATCATAT
TATTTTAAATGTTACTATTACGTCTTCTTCTGCCTATACTTAAAAATAACTTGATAAATGACTT
GGACTGATGTTACTCTGGAGTTATCACAAAGAAAATGTTGTTTGGTCTTTAAAGAGCATGTGTA
TTGTATCATCCCAAACGTAAATCCTACATTTATATAAGATGGGCAAGAAGCTACTTGGTCATTA
GAGAGGGAGACACCAGCTCTTTGGTTGTTTTTGGATATAACTTTACAAAATAAGTAAGATGTTA
ATTTAGAAATTTGAGAAATTAATGCTCTAATACTGAGTTTTTATTTAAAAATTATTTTTTCTTC
CCCTCAACAATGAAGCAAGCTTAGCTGTCAAGGGAAACTTTTTACAAATCTGAAAAAAACAATC
TATGACTTTGGTTTAAGGCTCACTGATACTTTTAGGCTAAATTGGTTTTAATATATTTCTTCTA
TTCTAAAAACCTGAACTCAGTCACTTAAAGGCTATGAAATTTAAAAAAAAAGTCGATGTGAAAG
TTTCTTTTGAACACTAAAATAAAATATGTGCAGATAAAATATACATTGATTTGTTTTTCTTAAA
TGTTGATGAGAAGAAAAAGAGATGCCATTTTCCTGAGGCTCAAAAATACCTTCAGGATAGTTGT
ATATCCAGTTATTGATTTTCTTAAAAGATGTGTAAGGAAAACAGTTTCAATTTCAGGGGAAAAG
TAAAAGTTTTTCCCTAAGTCACTTAAAGCCTTTGCAACTTCTTTTTTCAGTTTTGTAAGTAATA
TATCTATGTTCTTTTCATTATAGCAAGCATTCAATGTGAACAACTTTTTAATTAACTCTGAATT
ACCATTCATACATCCTAAAAATAAAAGCTCGTTATTCATTAAAATCAACTGATCCCATTTTTCT
TAAAATTTCCCTGAAGGCAAATGTCTGAAGCACCTTTCCCTTGTGGGGGTAAAAATCCTAAATT
GCTTTATTTTTCATTCCCTCCTATTCAACATGGGAGCAGCATAGAGACCCAAACCATGTAAACA
AGTTCAGTGAACCAAAACAGCCACATTAGCTTCAGTAAAATTATAGCTAGATGTGCAATTTTTT
CCTCCAACTTCTAACGTGTCAAATAACCTTCCTACTGTTCTGTGTTAACTGAAAGAACATAAAG
ACCCTAGGCAAATATTTGCTATATATTACCCCAATCCATAGAAGAAATAATGTTTTGGGTAATA
CCTAGGCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTAGTGATAAGGCTCATAACAATTAATTAG
AGAAGGCTTCTTATTGGTCTTACACAGAAAGATACATCAAAAGCAGCATGACTCAAAATGATTT
GGAAAAGGTTAAAGTTAGTGCTCTGCTGAAGTGCCTTTGATATAGACTTGCATTATTAGAAGGA
TATAACATCTTTTTTAAGTGTGCATTTTCTTTCAGTTAACCAAATTAAACAGATGTGCAGTTTT
ATTAAAAATATAGACCTAGTGTTTCATGTTGGAACAATAAATATTGCATGTGAGTAGTATTTCT
TGTTTTTTGAATACAGTATATATTGATAAATTGTTTATGTTGGAATGAAGTTAGAAACTATATA
GCAAAACATTATATTTTAAGTGTTTATTTTTCCCACCTTTAAATAAAAATGTTTCATCTCAGCT
TGGTAATGAAATACACATATTGGTATAAGGGTATACCATTCAGGTATGCCACTTATTTTATTCA
TTTTTGTGTAAGGGAAATGAGATGATGTATCCCAAGGGCTTTTCTAGAACTACTTGTTTGCTTT
CAGAATAAAACCTTATTATTTTTTACACTGCACATGCTGTTCTCAATTGGTAATTATAGGCAAT
TTATCTTTTCTAATGATCAAAAGAGTGTGACTTCTCATTTGTGAGTAGTTCACAAATTTCCTGT
TAAAAAGCTGAAACCATCTACTTTTTCTTAACCCAAGTGATAATAAACAATATTCACAACTTTC
TTAAATTTTTAAATTGAAAACCAAGGTTTTTTCAAATATAAACCTAGATGATTTTGGTCACAAA
TTGTTAACATTTGTCGATCCTTTGTATATACTTTGGATATATATTAAAGGCAAAACTATCTCTT
GACTAACTGATGGATTCATTTACTAAAGCACAGCTGTATGTATTTTTGAATACATATTATGATC
TTGAGACTTTATAAATCAATTTTTATGACTTTATGCAGTTGTATAGGGATTATGCCCTTTCAGT
TCTATAGGGATTATGCCCTTTTATAATACATAATATACCACAGAGATTACAAATGTTGAGGAAT
GAAAGCACTTCTTTGCTTTGGCAATCATTTTCAGACCACTATGTGTTTGAATCCTCTGGTATCA
ATACGTATTATAGGGTTTTAGAGATCTGTGGGTCAAATGATGTCCCTCAAAACTTCCTAAAAAG
GTGAAGCTCAAAGTCACACATTCTTATAAGGCGCATGAGTTTCTCATTTTCCCATGTACGAGCA
TTGTAAAGGAATTCAGCTGTATTAATTTCTATTTCAGATCTAGAATTGACATTTTGCCTTCTTG
TTTCCAGGTGTTTCTATTTTTTGTATTCTTTCAGAGAAATCTCATATTTCGGTGTATTTATTGC
TGTTACTACTATATTTACTGCTGAAAACTGTAACAACCTGAAGATTTGTAAAATGTTAAACATA
GTTCATTAAAAATAATAAAATAAATCTAAAATGTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_803237	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH36478	(Get FASTA)	NCBI Sequence Viewer
	AAH60872	(Get FASTA)	NCBI Sequence Viewer
	AAL57220	(Get FASTA)	NCBI Sequence Viewer
	AAY24258	(Get FASTA)	NCBI Sequence Viewer
	BAB85532	(Get FASTA)	NCBI Sequence Viewer
	BAC03660	(Get FASTA)	NCBI Sequence Viewer
	BAC04380	(Get FASTA)	NCBI Sequence Viewer
	BAC04586	(Get FASTA)	NCBI Sequence Viewer
	BAF82426	(Get FASTA)	NCBI Sequence Viewer
	CAD38939	(Get FASTA)	NCBI Sequence Viewer
	EAX10930	(Get FASTA)	NCBI Sequence Viewer
	EAX10931	(Get FASTA)	NCBI Sequence Viewer
	EAX10932	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000304108
	ENSP00000304108.5
GenBank Protein	Q6P995	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_803237 ⟸ NM_177454
- Peptide Label:	precursor
- UniProtKB:	Q8TF55 (UniProtKB/Swiss-Prot), Q8NB81 (UniProtKB/Swiss-Prot), Q8N970 (UniProtKB/Swiss-Prot), Q8N3K1 (UniProtKB/Swiss-Prot), Q8N1Y4 (UniProtKB/Swiss-Prot), Q53SK3 (UniProtKB/Swiss-Prot), Q8WYR8 (UniProtKB/Swiss-Prot), Q6P995 (UniProtKB/Swiss-Prot), A8K122 (UniProtKB/TrEMBL)
- Sequence:	show sequence MARLCRRVPCTLLLGLAVVLLKARLVPAAARAELSRSDLSLIQQQQQQQQQQQQQQKQLEEAEE ERTEVPGATSTLTVPVSVFMLKVQVNDIISRQYLSQAVVEVFVNYTKTNSTVTKSNGAVLIKVP YKLGLSLTIIAYKDGYVLTPLPWKTRRMPIYSSVTLSLFPQSQANIWLFEDTVLITGKLADAKS QPSVQFSKALIKLPDNHHISNVTGYLTVLQQFLKVDNFLHTTGITLNKPGFENIELTPLAAICV KIYSGGKELKVNGSIQVSLPLLRLNDISAGDRIPAWTFDMNTGAWVNHGRGMVKEHNNHLIWTY DAPHLGYWIAAPLPGTRGSGINEDSKDITAYHTVFLTAILGGTIVIVIGFFAVLLCYCRDKCGT PQKRERNITKLEVLKRDQTTSTTHINHISTVKVALKAEDKSQLFNAKNSSYSPQKKEPSKAETE ERVSMVKTRDDFKIYNEDVSFLSVNQNNYSRNPTQSLEPNVGSKQPKHINNNLSSSLGDAQDEK RYLTGNEEAYGRSHIPEQLMHIYSQPIAILQTSDLFSTPEQLHTAKSATLPRKGQLVYGQLMEP VNRENFTQTLPKMPIHSHAQPPDAREEDIILEGQQSLPSQASDWSRYSSSLLESVSVPGTLNEA VVMTPFSSELQGISEQTLLELSKGKPSPHPRAWFVSLDGKPVAQVRHSFIDLKKGKRTQSNDTS LDSGVDMNELHSSRKLEREKTFIKSMHQPKILYLEDLDLSSSESGTTVCSPEDPALRHILDGGS GVIMEHPGEESPGRKSTVEDFEANTSPTKRRGRPPLAKRDSKTNIWKKREERPLIPIN hide sequence

Ensembl Acc Id:

ENSP00000478477 ⟸ ENST00000612606

Ensembl Acc Id:

ENSP00000304108 ⟸ ENST00000304698

Protein Domains

FAM171 C-terminal FAM171 N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6P995-F1-model_v2	AlphaFold	Q6P995	1-826	view protein structure

Promoters

RGD ID:

6862280

Promoter ID:

EPDNEW_H4305

Type:

initiation region

Name:

FAM171B_1

Description:

family with sequence similarity 171 member B

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	2	186,694,062 - 186,694,122	EPDNEW

RGD ID:

6797276

Promoter ID:

HG_KWN:36291

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

ENST00000272804, OTTHUMT00000334679, UC002UPR.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	187,266,806 - 187,267,306 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29412	AgrOrtholog
COSMIC	FAM171B	COSMIC
Ensembl Genes	ENSG00000144369	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000304698	ENTREZGENE
	ENST00000304698.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000144369	GTEx
HGNC ID	HGNC:29412	ENTREZGENE
Human Proteome Map	FAM171B	Human Proteome Map
InterPro	FAM171_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FAM171_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Uncharacterised_FAM171	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:165215	UniProtKB/Swiss-Prot
NCBI Gene	165215	ENTREZGENE
OMIM	620309	OMIM
PANTHER	PROTEIN FAM171B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR31626	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FAM171A1-2-B_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UPF0560	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162387220	PharmGKB
UniProt	A8K122	ENTREZGENE, UniProtKB/TrEMBL
	B3LEU9_HUMAN	UniProtKB/TrEMBL
	F171B_HUMAN	UniProtKB/Swiss-Prot
	Q53SK3	ENTREZGENE
	Q6P995	ENTREZGENE
	Q8N1Y4	ENTREZGENE
	Q8N3K1	ENTREZGENE
	Q8N970	ENTREZGENE
	Q8NB81	ENTREZGENE
	Q8TF55	ENTREZGENE
	Q8WYR8	ENTREZGENE
UniProt Secondary	Q53SK3	UniProtKB/Swiss-Prot
	Q8N1Y4	UniProtKB/Swiss-Prot
	Q8N3K1	UniProtKB/Swiss-Prot
	Q8N970	UniProtKB/Swiss-Prot
	Q8NB81	UniProtKB/Swiss-Prot
	Q8TF55	UniProtKB/Swiss-Prot
	Q8WYR8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM171B	family with sequence similarity 171 member B		family with sequence similarity 171, member B	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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