FAM216A (family with sequence similarity 216 member A)

Gene: FAM216A (family with sequence similarity 216 member A) Homo sapiens

Analyze

Symbol:

FAM216A

Name:

family with sequence similarity 216 member A

RGD ID:

1607038

HGNC Page

HGNC:30180

Description:

ASSOCIATED WITH genetic disease; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-palmitoylglycerol

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C12orf24; family with sequence similarity 216, member A; HSU79274; hypothetical protein LOC29902; protein predicted by clone 23733; uncharacterized protein C12orf24

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	110,468,427 - 110,490,385 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	110,468,415 - 110,490,385 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	110,906,650 - 110,928,190 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	109,390,615 - 109,412,575 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	110,532,993 - 110,554,951 (+)	NCBI		Celera
Cytogenetic Map	12	q24.11	NCBI
HuRef	12	107,924,560 - 107,946,329 (+)	NCBI		HuRef
CHM1_1	12	110,874,062 - 110,896,004 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	110,446,166 - 110,468,079 (+)	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

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

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

2-palmitoylglycerol (EXP)

4-hydroxyphenyl retinamide (ISO)

acrolein (EXP)

acrylamide (EXP)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

amphetamine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

calcitriol (EXP)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

dorsomorphin (EXP)

ethyl methanesulfonate (EXP)

flutamide (ISO)

methyl methanesulfonate (EXP)

N-ethyl-N-nitrosourea (ISO)

ozone (EXP,ISO)

paracetamol (ISO)

phenylmercury acetate (EXP)

quercitrin (EXP)

SB 431542 (EXP)

T-2 toxin (EXP)

temozolomide (EXP)

testosterone (EXP)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP)

References

References - curated

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

Additional References at PubMed

PMID:8619474	PMID:9110174	PMID:12477932	PMID:16344560	PMID:26186194	PMID:26496610	PMID:28514442	PMID:33961781

Genomics

Comparative Map Data

FAM216A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	110,468,427 - 110,490,385 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	110,468,415 - 110,490,385 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	110,906,650 - 110,928,190 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	109,390,615 - 109,412,575 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	110,532,993 - 110,554,951 (+)	NCBI		Celera
Cytogenetic Map	12	q24.11	NCBI
HuRef	12	107,924,560 - 107,946,329 (+)	NCBI		HuRef
CHM1_1	12	110,874,062 - 110,896,004 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	110,446,166 - 110,468,079 (+)	NCBI		T2T-CHM13v2.0

Fam216a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	122,502,647 - 122,510,405 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	122,502,643 - 122,510,427 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	122,364,584 - 122,372,342 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	122,364,580 - 122,372,364 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	122,814,593 - 122,821,972 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	122,625,203 - 122,632,972 (-)	NCBI		MGSCv36	mm8
Celera	5	119,447,028 - 119,454,417 (-)	NCBI		Celera
Cytogenetic Map	5	F	NCBI
cM Map	5	62.33	NCBI

Fam216a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	39,859,307 - 39,868,450 (+)	NCBI		GRCr8
mRatBN7.2	12	34,198,526 - 34,207,673 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	34,198,526 - 34,207,665 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	35,370,944 - 35,380,080 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	35,982,354 - 35,991,492 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	35,034,678 - 35,043,814 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	39,679,688 - 39,688,831 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	39,679,688 - 39,688,823 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	41,560,318 - 41,569,461 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	35,392,970 - 35,402,113 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	35,256,357 - 35,265,497 (+)	NCBI
Celera	12	35,869,443 - 35,878,534 (+)	NCBI		Celera
Cytogenetic Map	12	q16	NCBI

Fam216a
(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_004955482	7,384,150 - 7,396,341 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955482	7,384,031 - 7,396,341 (+)	NCBI	ChiLan1.0	ChiLan1.0

FAM216A
(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	118,532,314 - 118,551,175 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	118,529,131 - 118,547,578 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	108,041,801 - 108,060,247 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	111,433,384 - 111,456,412 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	111,432,910 - 111,456,412 (+)	Ensembl	panpan1.1		panPan2

FAM216A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	8,291,710 - 8,300,639 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	8,291,705 - 8,300,646 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	8,455,338 - 8,464,264 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	8,549,392 - 8,558,278 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	8,549,385 - 8,558,285 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	8,508,629 - 8,517,511 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	8,567,423 - 8,576,306 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	8,522,896 - 8,531,778 (+)	NCBI		UU_Cfam_GSD_1.0

Fam216a
(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_024405118	156,030,634 - 156,043,046 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936558	3,435,613 - 3,449,048 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936558	3,436,383 - 3,448,946 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FAM216A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	31,849,971 - 31,860,807 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	31,850,035 - 31,859,587 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	33,771,559 - 33,781,210 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FAM216A
(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	105,704,174 - 105,728,045 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	105,704,586 - 105,727,797 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	139,393,173 - 139,415,960 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fam216a
(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_004624747	21,408,982 - 21,420,387 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FAM216A
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	copy number loss	See cases [RCV000050807]	Chr12:105234677..112194686 [GRCh38] Chr12:105628455..112632490 [GRCh37] Chr12:104152585..111116873 [NCBI36] Chr12:12q23.3-24.13	pathogenic
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 12q23.2-24.11(chr12:103044333-111639805)x1	copy number loss	See cases [RCV000445832]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely 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
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 12q23.3-24.12(chr12:106498814-112252906)x1	copy number loss	not provided [RCV001259630]	Chr12:106498814..112252906 [GRCh37] Chr12:12q23.3-24.12	pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	copy number loss	not specified [RCV002053016]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	copy number loss	not provided [RCV001834231]	Chr12:104230462..111984801 [GRCh37] Chr12:12q23.3-24.12	pathogenic
NM_013300.3(FAM216A):c.335G>A (p.Arg112His)	single nucleotide variant	not specified [RCV004283683]	Chr12:110486353 [GRCh38] Chr12:110924158 [GRCh37] Chr12:12q24.11	uncertain significance
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_013300.3(FAM216A):c.10C>G (p.Gln4Glu)	single nucleotide variant	not specified [RCV004212964]	Chr12:110468885 [GRCh38] Chr12:110906690 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.788T>C (p.Ile263Thr)	single nucleotide variant	not specified [RCV004147060]	Chr12:110490103 [GRCh38] Chr12:110927908 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.31C>G (p.Arg11Gly)	single nucleotide variant	not specified [RCV004114076]	Chr12:110468906 [GRCh38] Chr12:110906711 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.34G>A (p.Gly12Ser)	single nucleotide variant	Inborn genetic diseases [RCV003001372]	Chr12:110468909 [GRCh38] Chr12:110906714 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.461G>A (p.Arg154His)	single nucleotide variant	not specified [RCV004193420]	Chr12:110486558 [GRCh38] Chr12:110924363 [GRCh37] Chr12:12q24.11	likely benign
NM_013300.3(FAM216A):c.125C>T (p.Thr42Ile)	single nucleotide variant	not specified [RCV004078611]	Chr12:110469000 [GRCh38] Chr12:110906805 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.479C>T (p.Ser160Leu)	single nucleotide variant	not specified [RCV004070960]	Chr12:110486576 [GRCh38] Chr12:110924381 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.395G>A (p.Arg132Lys)	single nucleotide variant	not specified [RCV004280789]	Chr12:110486413 [GRCh38] Chr12:110924218 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.481C>G (p.Gln161Glu)	single nucleotide variant	not specified [RCV004265249]	Chr12:110486578 [GRCh38] Chr12:110924383 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.350T>C (p.Ile117Thr)	single nucleotide variant	not specified [RCV004282703]	Chr12:110486368 [GRCh38] Chr12:110924173 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.334C>T (p.Arg112Cys)	single nucleotide variant	not specified [RCV004381207]	Chr12:110486352 [GRCh38] Chr12:110924157 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.428A>G (p.Gln143Arg)	single nucleotide variant	not specified [RCV004381208]	Chr12:110486446 [GRCh38] Chr12:110924251 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.698A>C (p.Gln233Pro)	single nucleotide variant	not specified [RCV004381210]	Chr12:110487938 [GRCh38] Chr12:110925743 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.59G>T (p.Gly20Val)	single nucleotide variant	not specified [RCV004381209]	Chr12:110468934 [GRCh38] Chr12:110906739 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.113C>G (p.Ala38Gly)	single nucleotide variant	not specified [RCV004381206]	Chr12:110468988 [GRCh38] Chr12:110906793 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.581T>C (p.Ile194Thr)	single nucleotide variant	not specified [RCV004256919]	Chr12:110486678 [GRCh38] Chr12:110924483 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.472C>A (p.Arg158Ser)	single nucleotide variant	not specified [RCV004136252]	Chr12:110486569 [GRCh38] Chr12:110924374 [GRCh37] Chr12:12q24.11	uncertain significance
NM_013300.3(FAM216A):c.432G>C (p.Lys144Asn)	single nucleotide variant	not specified [RCV004115511]	Chr12:110486450 [GRCh38] Chr12:110924255 [GRCh37] Chr12:12q24.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1061
Count of miRNA genes:	591
Interacting mature miRNAs:	658
Transcripts:	ENST00000377673, ENST00000538285, ENST00000546396, ENST00000547539, ENST00000548449, ENST00000548869
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

RH45045

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	110,907,752 - 110,907,874	UniSTS	GRCh37
Build 36	12	109,392,135 - 109,392,257	RGD	NCBI36
Celera	12	110,534,513 - 110,534,635	RGD
Cytogenetic Map	12	q24.11	UniSTS
HuRef	12	107,926,080 - 107,926,202	UniSTS
GeneMap99-GB4 RH Map	12	427.17	UniSTS
NCBI RH Map	12	704.8	UniSTS

RH70708

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	110,927,935 - 110,928,114	UniSTS	GRCh37
Build 36	12	109,412,318 - 109,412,497	RGD	NCBI36
Celera	12	110,554,694 - 110,554,873	RGD
Cytogenetic Map	12	q24.11	UniSTS
HuRef	12	107,946,072 - 107,946,251	UniSTS
GeneMap99-GB4 RH Map	12	433.33	UniSTS

L17796

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	17	p	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	1	p36.12	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	19	p13.13	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	3	p24	UniSTS
Cytogenetic Map	1	q24	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

621

711

366

871

884

359

2776

105

1077

338

112

595

Low

1814

2202

1358

599

1012

442

3471

1825

958

311

380

1269

166

1092

2192

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_013300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011538246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024448959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC002350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU129789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020967	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF114636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U79274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000377673 ⟹ ENSP00000366901

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	110,468,845 - 110,490,385 (+)	Ensembl

RefSeq Acc Id:

ENST00000538285

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	110,468,415 - 110,487,315 (+)	Ensembl

RefSeq Acc Id:

ENST00000546396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	110,486,301 - 110,490,385 (+)	Ensembl

RefSeq Acc Id:

ENST00000547539

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	110,486,891 - 110,490,349 (+)	Ensembl

RefSeq Acc Id:

ENST00000548449 ⟹ ENSP00000448777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	110,468,781 - 110,487,053 (+)	Ensembl

RefSeq Acc Id:

ENST00000548869

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	110,468,424 - 110,487,298 (+)	Ensembl

RefSeq Acc Id:

NM_013300 ⟹ NP_037432

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	110,468,845 - 110,490,385 (+)	NCBI
GRCh37	12	110,906,232 - 110,928,192 (+)	RGD
Build 36	12	109,390,615 - 109,412,575 (+)	NCBI Archive
Celera	12	110,532,993 - 110,554,951 (+)	RGD
HuRef	12	107,924,560 - 107,946,329 (+)	RGD
CHM1_1	12	110,874,062 - 110,896,004 (+)	NCBI
T2T-CHM13v2.0	12	110,446,539 - 110,468,079 (+)	NCBI

Sequence:

show sequence

AGCCTGACGCACGCGTGCTGTCGGGGGAGGGATGCTGGGACAGCTGCTCCCGCACACGGCTCGC
GGTCTCGGCGCCGCGGAGATGCCCGGCCAGGGTCCGGGGTCCGACTGGACGGAGCGTAGCTCTT
CTGCAGAGCCGCCCGCTGTGGCCGGGACCGAGGGTGGCGGCGGCGGATCAGCTGGATACTCTTG
TTACCAGAATTCCAAAGGTTCTGATAGAATCAAAGATGGATACAAAGTGAACTCACACATAGCT
AAGCTGCAAGAGTTATGGAAAACTCCCCAAAATCAAACAATCCACCTCTCTAAATCAATGATGG
AGGCGTCCTTTTTCAAGCATCCAGACCTCACCACAGGCCAGAAGCGTTACCTGTGCAGCATTGC
TAAAATCTATAATGCAAACTATCTGAAGATGTTAATGAAGAGGCAGTACATGCACGTACTTCAG
CACAGCTCACAAAAGCCAGGTGTCCTCACTCATCACAGAAGCCGCCTTAGCTCCCGTTACTCAC
AGAAACAGCATTACCCTTGCACTACATGGCGACATCAACTGGAGAGAGAGGACTCGGGGTCTTC
TGATATCGCAGCTGCATCTGCACCTGAAATGCTCATACAGCATTCCCTTTGGCGGCCAGTGAGA
AACAAAGAAGGGATAAAAACTGGATATGCATCTAAAACAAGATGTAAGTCACTGAAGATTTTTA
GAAGACCAAGGAAACTGTTCATGCAAACAGTTTCTTCAGATGATTCTGAATCACACATGAGTGA
AGAAAAAAAGGAAGAAGATTTACTAAATAATTTTATGCAATCAATGTCAATTGAAGAACAGGGA
GAACATCTGATGTTAACTTGACAGTCTTGTCTCGTGTATTGAATTCGTGCCAAAGGTGAGGGTA
AGGGGTTGTGAGTTGTGTCCTGTATGTTTAGGATGGTATTGTTATTTATTAAATCATTAAGTAA
TTTTGGTTTGTTCAGAAACTTAAAACAATGTAATTGGTCTGATGTAGTTCCATGTACCAATGAT
AGTTATGTAAGAAAATTTACATGTAACATATACTTGTACTTCTAGCTAGATACAATTAAAACTT
TTCTTGCATTCAA

hide sequence

RefSeq Acc Id:

XM_005253875 ⟹ XP_005253932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	110,468,427 - 110,490,385 (+)	NCBI
GRCh37	12	110,906,232 - 110,928,192 (+)	NCBI

Sequence:

show sequence

GCGTGCGCAAAAGTAGTTGATGGAAATCGGCCGTTGGGATGCTGTCTAAGCTTGGATACCTGAG
TAATAACGGACAACAGATAAAGCTCCGCATCCTTGCGCCACGTGCTTCGATCAGCTGGATACTC
TTGTTACCAGAATTCCAAAGGTTCTGATAGAATCAAAGATGGATACAAAGTGAACTCACACATA
GCTAAGCTGCAAGAGTTATGGAAAACTCCCCAAAATCAAACAATCCACCTCTCTAAATCAATGA
TGGAGGCGTCCTTTTTCAAGCATCCAGACCTCACCACAGGCCAGAAGCGTTACCTGTGCAGCAT
TGCTAAAATCTATAATGCAAACTATCTGAAGATGTTAATGAAGAGGCAGTACATGCACGTACTT
CAGCACAGCTCACAAAAGCCAGGTGTCCTCACTCATCACAGAAGCCGCCTTAGCTCCCGTTACT
CACAGAAACAGCATTACCCTTGCACTACATGGCGACATCAACTGGAGAGAGAGGACTCGGGGTC
TTCTGATATCGCAGCTGCATCTGCACCTGAAATGCTCATACAGCATTCCCTTTGGCGGCCAGTG
AGAAACAAAGAAGGGATAAAAACTGGATATGCATCTAAAACAAGATGTAAGTCACTGAAGATTT
TTAGAAGACCAAGGAAACTGTTCATGCAAACAGTTTCTTCAGATGATTCTGAATCACACATGAG
TGAAGAAAAAAAGGAAGAAGATTTACTAAATAATTTTATGCAATCAATGTCAATTGAAGAACAG
GGAGAACATCTGATGTTAACTTGACAGTCTTGTCTCGTGTATTGAATTCGTGCCAAAGGTGAGG
GTAAGGGGTTGTGAGTTGTGTCCTGTATGTTTAGGATGGTATTGTTATTTATTAAATCATTAAG
TAATTTTGGTTTGTTCAGAAACTTAAAACAATGTAATTGGTCTGATGTAGTTCCATGTACCAAT
GATAGTTATGTAAGAAAATTTACATGTAACATATACTTGTACTTCTAGCTAGATACAATTAAAA
CTTTTCTTGCATTCAA

hide sequence

RefSeq Acc Id:

XM_011538246 ⟹ XP_011536548

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	110,469,742 - 110,490,385 (+)	NCBI

Sequence:

show sequence

TAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAGGTG
GTTTCACCATGTTGGCTAGGCTTGTGTCGAACCCCTGACCTCAAGTGAGCCGCCCGCCTCGGCC
TCCCAAATTGCTGGGATTACGGGGTGAACCATTGCGCCCGACCTCAAACGAGGATTTCTAATCG
CCAATGAGACCAATGACTGAATATCCGAGATCAGCTGGATACTCTTGTTACCAGAATTCCAAAG
GTTCTGATAGAATCAAAGATGGATACAAAGTGAACTCACACATAGCTAAGCTGCAAGAGTTATG
GAAAACTCCCCAAAATCAAACAATCCACCTCTCTAAATCAATGATGGAGGCGTCCTTTTTCAAG
CATCCAGACCTCACCACAGGCCAGAAGCGTTACCTGTGCAGCATTGCTAAAATCTATAATGCAA
ACTATCTGAAGATGTTAATGAAGAGGCAGTACATGCACGTACTTCAGCACAGCTCACAAAAGCC
AGGTGTCCTCACTCATCACAGAAGCCGCCTTAGCTCCCGTTACTCACAGAAACAGCATTACCCT
TGCACTACATGGCGACATCAACTGGAGAGAGAGGACTCGGGGTCTTCTGATATCGCAGCTGCAT
CTGCACCTGAAATGCTCATACAGCATTCCCTTTGGCGGCCAGTGAGAAACAAAGAAGGGATAAA
AACTGGATATGCATCTAAAACAAGATGTAAGTCACTGAAGATTTTTAGAAGACCAAGGAAACTG
TTCATGCAAACAGTTTCTTCAGATGATTCTGAATCACACATGAGTGAAGAAAAAAAGGAAGAAG
ATTTACTAAATAATTTTATGCAATCAATGTCAATTGAAGAACAGGGAGAACATCTGATGTTAAC
TTGACAGTCTTGTCTCGTGTATTGAATTCGTGCCAAAGGTGAGGGTAAGGGGTTGTGAGTTGTG
TCCTGTATGTTTAGGATGGTATTGTTATTTATTAAATCATTAAGTAATTTTGGTTTGTTCAGAA
ACTTAAAACAATGTAATTGGTCTGATGTAGTTCCATGTACCAATGATAGTTATGTAAGAAAATT
TACATGTAACATATACTTGTACTTCTAGCTAGATACAATTAAAACTTTTCTTGCATTCAA

hide sequence

RefSeq Acc Id:

XM_024448959 ⟹ XP_024304727

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	110,468,427 - 110,490,385 (+)	NCBI

Sequence:

show sequence

AGCTTGGATACCTGAGTAATAACGGACAACAGATAAAGCTCCGCATCCTTGCGCCACGTGCTTC
GGTCCGTGGTTTGCGTGCAGACGTTTGACCTGTATGGTGACCCTCGCGATTTGCAAATGTGCTG
AGGATCTGGAATACTGAAGTGGAAGGCACCTCTTGTTTTGGGGAGCATGTATATTTCCCTCCTG
TGACGCACTGCTTCCACAGAGAGATCAGCTGGATACTCTTGTTACCAGAATTCCAAAGGTTCTG
ATAGAATCAAAGATGGATACAAAGTGAACTCACACATAGCTAAGCTGCAAGAGTTATGGAAAAC
TCCCCAAAATCAAACAATCCACCTCTCTAAATCAATGATGGAGGCGTCCTTTTTCAAGCATCCA
GACCTCACCACAGGCCAGAAGCGTTACCTGTGCAGCATTGCTAAAATCTATAATGCAAACTATC
TGAAGATGTTAATGAAGAGGCAGTACATGCACGTACTTCAGCACAGCTCACAAAAGCCAGGTGT
CCTCACTCATCACAGAAGCCGCCTTAGCTCCCGTTACTCACAGAAACAGCATTACCCTTGCACT
ACATGGCGACATCAACTGGAGAGAGAGGACTCGGGGTCTTCTGATATCGCAGCTGCATCTGCAC
CTGAAATGCTCATACAGCATTCCCTTTGGCGGCCAGTGAGAAACAAAGAAGGGATAAAAACTGG
ATATGCATCTAAAACAAGATGTAAGTCACTGAAGATTTTTAGAAGACCAAGGAAACTGTTCATG
CAAACAGTTTCTTCAGATGATTCTGAATCACACATGAGTGAAGAAAAAAAGGAAGAAGATTTAC
TAAATAATTTTATGCAATCAATGTCAATTGAAGAACAGGGAGAACATCTGATGTTAACTTGACA
GTCTTGTCTCGTGTATTGAATTCGTGCCAAAGGTGAGGGTAAGGGGTTGTGAGTTGTGTCCTGT
ATGTTTAGGATGGTATTGTTATTTATTAAATCATTAAGTAATTTTGGTTTGTTCAGAAACTTAA
AACAATGTAATTGGTCTGATGTAGTTCCATGTACCAATGATAGTTATGTAAGAAAATTTACATG
TAACATATACTTGTACTTCTAGCTAGATACAATTAAAACTTTTCTTGCATTCAA

hide sequence

RefSeq Acc Id:

XM_054371890 ⟹ XP_054227865

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	110,447,436 - 110,468,079 (+)	NCBI

RefSeq Acc Id:

XM_054371891 ⟹ XP_054227866

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	110,446,166 - 110,468,079 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_037432	(Get FASTA)	NCBI Sequence Viewer
	XP_005253932	(Get FASTA)	NCBI Sequence Viewer
	XP_011536548	(Get FASTA)	NCBI Sequence Viewer
	XP_024304727	(Get FASTA)	NCBI Sequence Viewer
	XP_054227865	(Get FASTA)	NCBI Sequence Viewer
	XP_054227866	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB50215	(Get FASTA)	NCBI Sequence Viewer
	AAH20967	(Get FASTA)	NCBI Sequence Viewer
	BAG58989	(Get FASTA)	NCBI Sequence Viewer
	BAG60044	(Get FASTA)	NCBI Sequence Viewer
	CAG33282	(Get FASTA)	NCBI Sequence Viewer
	EAW97915	(Get FASTA)	NCBI Sequence Viewer
	EAW97916	(Get FASTA)	NCBI Sequence Viewer
	EAW97917	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000366901
	ENSP00000366901.5
	ENSP00000448777.1
GenBank Protein	Q8WUB2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_037432 ⟸ NM_013300

- UniProtKB:

A6NH30 (UniProtKB/Swiss-Prot), Q99776 (UniProtKB/Swiss-Prot), Q8WUB2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MLGQLLPHTARGLGAAEMPGQGPGSDWTERSSSAEPPAVAGTEGGGGGSAGYSCYQNSKGSDRI
KDGYKVNSHIAKLQELWKTPQNQTIHLSKSMMEASFFKHPDLTTGQKRYLCSIAKIYNANYLKM
LMKRQYMHVLQHSSQKPGVLTHHRSRLSSRYSQKQHYPCTTWRHQLEREDSGSSDIAAASAPEM
LIQHSLWRPVRNKEGIKTGYASKTRCKSLKIFRRPRKLFMQTVSSDDSESHMSEEKKEEDLLNN
FMQSMSIEEQGEHLMLT

hide sequence

RefSeq Acc Id:	XP_005253932 ⟸ XM_005253875
- Peptide Label:	isoform X2
- Sequence:	show sequence MMEASFFKHPDLTTGQKRYLCSIAKIYNANYLKMLMKRQYMHVLQHSSQKPGVLTHHRSRLSSR YSQKQHYPCTTWRHQLEREDSGSSDIAAASAPEMLIQHSLWRPVRNKEGIKTGYASKTRCKSLK IFRRPRKLFMQTVSSDDSESHMSEEKKEEDLLNNFMQSMSIEEQGEHLMLT hide sequence

RefSeq Acc Id:

XP_011536548 ⟸ XM_011538246

- Peptide Label:

isoform X1

- Sequence:

show sequence

MRPMTEYPRSAGYSCYQNSKGSDRIKDGYKVNSHIAKLQELWKTPQNQTIHLSKSMMEASFFKH
PDLTTGQKRYLCSIAKIYNANYLKMLMKRQYMHVLQHSSQKPGVLTHHRSRLSSRYSQKQHYPC
TTWRHQLEREDSGSSDIAAASAPEMLIQHSLWRPVRNKEGIKTGYASKTRCKSLKIFRRPRKLF
MQTVSSDDSESHMSEEKKEEDLLNNFMQSMSIEEQGEHLMLT

hide sequence

RefSeq Acc Id:	XP_024304727 ⟸ XM_024448959
- Peptide Label:	isoform X2
- Sequence:	show sequence MMEASFFKHPDLTTGQKRYLCSIAKIYNANYLKMLMKRQYMHVLQHSSQKPGVLTHHRSRLSSR YSQKQHYPCTTWRHQLEREDSGSSDIAAASAPEMLIQHSLWRPVRNKEGIKTGYASKTRCKSLK IFRRPRKLFMQTVSSDDSESHMSEEKKEEDLLNNFMQSMSIEEQGEHLMLT hide sequence

RefSeq Acc Id:

ENSP00000448777 ⟸ ENST00000548449

RefSeq Acc Id:

ENSP00000366901 ⟸ ENST00000377673

RefSeq Acc Id:	XP_054227866 ⟸ XM_054371891
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054227865 ⟸ XM_054371890
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WUB2-F1-model_v2	AlphaFold	Q8WUB2	1-273	view protein structure

Promoters

RGD ID:

6789733

Promoter ID:

HG_KWN:16652

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

NM_013300, UC001TQT.2, UC001TQV.2, UC009ZVO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	109,390,699 - 109,391,199 (+)	MPROMDB

RGD ID:

7225395

Promoter ID:

EPDNEW_H18443

Type:

initiation region

Name:

FAM216A_1

Description:

family with sequence similarity 216 member A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18444

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	110,468,427 - 110,468,487	EPDNEW

RGD ID:

7225397

Promoter ID:

EPDNEW_H18444

Type:

initiation region

Name:

FAM216A_2

Description:

family with sequence similarity 216 member A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18443

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	110,468,845 - 110,468,905	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:30180	AgrOrtholog
COSMIC	FAM216A	COSMIC
Ensembl Genes	ENSG00000204856	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000377673	ENTREZGENE
	ENST00000377673.10	UniProtKB/Swiss-Prot
	ENST00000548449.1	UniProtKB/TrEMBL
GTEx	ENSG00000204856	GTEx
HGNC ID	HGNC:30180	ENTREZGENE
Human Proteome Map	FAM216A	Human Proteome Map
InterPro	FAM216	UniProtKB/Swiss-Prot
KEGG Report	hsa:29902	UniProtKB/Swiss-Prot
NCBI Gene	29902	ENTREZGENE
PANTHER	PROTEIN FAM216A	UniProtKB/Swiss-Prot
	PTHR16476	UniProtKB/Swiss-Prot
Pfam	FAM216B	UniProtKB/Swiss-Prot
PharmGKB	PA128395781	PharmGKB
UniProt	A6NH30	ENTREZGENE
	F216A_HUMAN	UniProtKB/Swiss-Prot
	F8VXY8_HUMAN	UniProtKB/TrEMBL
	Q8WUB2	ENTREZGENE
	Q99776	ENTREZGENE
UniProt Secondary	A6NH30	UniProtKB/Swiss-Prot
	Q99776	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM216A	family with sequence similarity 216 member A		family with sequence similarity 216, member A	Symbol and/or name change	5135510	APPROVED
2012-02-14	FAM216A	family with sequence similarity 216, member A	C12orf24	chromosome 12 open reading frame 24	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar