FAM43A (family with sequence similarity 43 member A)

Gene: FAM43A (family with sequence similarity 43 member A) Homo sapiens

Analyze

Symbol:

FAM43A

Name:

family with sequence similarity 43 member A

RGD ID:

1343774

HGNC Page

HGNC:26888

Description:

ASSOCIATED WITH Experimental Liver Cirrhosis; INTERACTS WITH (R)-pantothenic acid; 15-acetyldeoxynivalenol; 17beta-estradiol

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

family with sequence similarity 43, member A; FLJ90022; hypothetical protein LOC131583

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	3	194,685,883 - 194,689,037 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	194,685,883 - 194,689,037 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	194,406,612 - 194,409,766 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	195,887,911 - 195,891,055 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	195,887,918 - 195,891,061	NCBI
Celera	3	192,820,433 - 192,823,578 (+)	NCBI		Celera
Cytogenetic Map	3	q29	NCBI
HuRef	3	191,784,777 - 191,787,922 (+)	NCBI		HuRef
CHM1_1	3	194,369,331 - 194,372,476 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	197,382,461 - 197,385,616 (+)	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

Experimental Liver Cirrhosis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(R)-pantothenic acid (EXP)

1-naphthyl isothiocyanate (ISO)

15-acetyldeoxynivalenol (EXP)

17beta-estradiol (EXP)

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

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

2-hydroxypropanoic acid (EXP)

2-palmitoylglycerol (EXP)

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

4,4'-diaminodiphenylmethane (ISO)

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

acrylamide (EXP,ISO)

afimoxifene (EXP)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

atrazine (ISO)

avobenzone (EXP)

azathioprine (EXP)

belinostat (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

Benzo[k]fluoranthene (ISO)

beta-naphthoflavone (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

butanal (EXP)

cadmium atom (ISO)

cadmium dichloride (ISO)

carbon nanotube (EXP)

cisplatin (EXP)

cobalt dichloride (EXP)

coumestrol (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

Enterolactone (EXP)

entinostat (EXP)

folic acid (ISO)

formaldehyde (EXP)

furan (ISO)

genistein (EXP)

gentamycin (ISO)

glycidol (ISO)

hydroquinone (EXP)

lead(0) (EXP)

leflunomide (EXP)

Licochalcone B (EXP)

lipopolysaccharide (ISO)

methotrexate (EXP)

methylisothiazolinone (EXP)

N-nitrosodimethylamine (ISO)

nickel sulfate (EXP)

niclosamide (EXP)

oxaliplatin (ISO)

ozone (ISO)

panobinostat (EXP)

paracetamol (EXP)

pentanal (EXP)

phenylmercury acetate (EXP)

progesterone (EXP)

propanal (EXP)

quercitrin (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenate (EXP)

sodium arsenite (EXP,ISO)

sulforaphane (EXP)

sunitinib (EXP)

temozolomide (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

tris(2-butoxyethyl) phosphate (EXP)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

zinc atom (EXP)

zinc(0) (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Molecular Function

protein binding (IPI)

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:7829101	PMID:14702039	PMID:15489334	PMID:15498874	PMID:26167880	PMID:26186194	PMID:28514442	PMID:32296183	PMID:32513696	PMID:33961781

Genomics

Comparative Map Data

FAM43A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	194,685,883 - 194,689,037 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	194,685,883 - 194,689,037 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	194,406,612 - 194,409,766 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	195,887,911 - 195,891,055 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	195,887,918 - 195,891,061	NCBI
Celera	3	192,820,433 - 192,823,578 (+)	NCBI		Celera
Cytogenetic Map	3	q29	NCBI
HuRef	3	191,784,777 - 191,787,922 (+)	NCBI		HuRef
CHM1_1	3	194,369,331 - 194,372,476 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	3	197,382,461 - 197,385,616 (+)	NCBI		T2T-CHM13v2.0

Fam43a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	30,418,541 - 30,421,615 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	30,418,541 - 30,421,615 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	30,599,723 - 30,602,797 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	30,599,723 - 30,602,797 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	30,599,809 - 30,602,883 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	30,519,470 - 30,522,502 (+)	NCBI		MGSCv36	mm8
Celera	16	31,114,283 - 31,117,357 (+)	NCBI		Celera
Cytogenetic Map	16	B2	NCBI
cM Map	16	21.34	NCBI

Fam43a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	83,633,165 - 83,636,313 (-)	NCBI		GRCr8
mRatBN7.2	11	70,128,253 - 70,131,401 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	70,128,253 - 70,131,401 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	78,972,298 - 78,975,446 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	71,609,970 - 71,613,113 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	70,661,406 - 70,664,554 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	73,676,601 - 73,679,003 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	73,676,601 - 73,678,984 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	76,748,265 - 76,750,667 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	72,010,484 - 72,012,886 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	72,068,960 - 72,078,160 (-)	NCBI
Celera	11	128,018 - 130,420 (+)	NCBI		Celera
Cytogenetic Map	11	q22	NCBI

Fam43a
(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_004955420	14,203,879 - 14,205,165 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955420	14,202,955 - 14,206,087 (-)	NCBI	ChiLan1.0	ChiLan1.0

FAM43A
(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	2	192,609,863 - 192,612,030 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	192,614,585 - 192,616,755 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	191,981,521 - 191,984,684 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	202,291,669 - 202,294,824 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	202,292,603 - 202,293,877 (+)	Ensembl	panpan1.1		panPan2

FAM43A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	33	31,070,520 - 31,073,393 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	33	31,070,951 - 31,073,312 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	33	31,101,312 - 31,103,894 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	33	31,329,672 - 31,332,254 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	33	31,330,856 - 31,332,208 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	33	31,123,619 - 31,126,204 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	33	31,158,810 - 31,161,371 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	33	31,784,902 - 31,787,487 (-)	NCBI		UU_Cfam_GSD_1.0

Fam43a
(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_024405602	124,110,293 - 124,113,397 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936711	137,281 - 138,570 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936711	136,411 - 139,558 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FAM43A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	131,663,310 - 131,665,439 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	131,662,474 - 131,665,653 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	141,266,879 - 141,269,989 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FAM43A
(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	15	88,771,634 - 88,774,770 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	88,772,565 - 88,773,836 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	62,460,502 - 62,463,654 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fam43a
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624730	63,205,990 - 63,207,267 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	63,205,027 - 63,208,444 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FAM43A
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	copy number loss	See cases [RCV000051608]	Chr3:185485849..198110178 [GRCh38] Chr3:185203637..197837049 [GRCh37] Chr3:186686331..199321446 [NCBI36] Chr3:3q27.2-29	pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	copy number loss	See cases [RCV000051610]	Chr3:187446231..195029133 [GRCh38] Chr3:187164019..194749862 [GRCh37] Chr3:188646713..196231151 [NCBI36] Chr3:3q27.3-29	pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	copy number gain	See cases [RCV000051725]	Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	copy number gain	See cases [RCV000051726]	Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3	copy number gain	See cases [RCV000051736]	Chr3:178411707..198110319 [GRCh38] Chr3:178129495..197837190 [GRCh37] Chr3:179612189..199321587 [NCBI36] Chr3:3q26.32-29	pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3	copy number gain	See cases [RCV000051738]	Chr3:185920880..198110319 [GRCh38] Chr3:185638668..197837190 [GRCh37] Chr3:187121362..199321587 [NCBI36] Chr3:3q27.2-29	pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	copy number gain	See cases [RCV000051739]	Chr3:189265371..198110178 [GRCh38] Chr3:188983160..197837049 [GRCh37] Chr3:190465854..199321446 [NCBI36] Chr3:3q28-29	pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	copy number gain	See cases [RCV000051740]	Chr3:190667663..198110178 [GRCh38] Chr3:190385452..197837049 [GRCh37] Chr3:191868146..199321446 [NCBI36] Chr3:3q28-29	pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3	copy number gain	See cases [RCV000051741]	Chr3:193917490..198110319 [GRCh38] Chr3:193635279..197837190 [GRCh37] Chr3:195117973..199321587 [NCBI36] Chr3:3q29	pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3	copy number gain	See cases [RCV000051742]	Chr3:194424496..198168758 [GRCh38] Chr3:194145225..197895629 [GRCh37] Chr3:195626514..199380026 [NCBI36] Chr3:3q29	pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|See cases [RCV000051723]	Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29	pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1	copy number loss	See cases [RCV000136517]	Chr3:194338534..197693741 [GRCh38] Chr3:194059263..197420612 [GRCh37] Chr3:195540958..198905009 [NCBI36] Chr3:3q29	pathogenic\|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	copy number gain	See cases [RCV000137106]	Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29	pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	copy number gain	See cases [RCV000138009]	Chr3:176439911..198118383 [GRCh38] Chr3:176157699..197845254 [GRCh37] Chr3:177640393..199329651 [NCBI36] Chr3:3q26.32-29	pathogenic\|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3	copy number gain	See cases [RCV000137827]	Chr3:192752937..198118383 [GRCh38] Chr3:192470726..197845254 [GRCh37] Chr3:193953420..199329651 [NCBI36] Chr3:3q29	pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	copy number gain	See cases [RCV000138662]	Chr3:176168525..198118383 [GRCh38] Chr3:175886313..197845254 [GRCh37] Chr3:177369007..199329651 [NCBI36] Chr3:3q26.32-29	pathogenic
GRCh38/hg38 3q29(chr3:194296197-198110198)x3	copy number gain	See cases [RCV000138492]	Chr3:194296197..198110198 [GRCh38] Chr3:194013986..197837069 [GRCh37] Chr3:195496680..199321466 [NCBI36] Chr3:3q29	pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	copy number gain	See cases [RCV000139435]	Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	copy number gain	See cases [RCV000140849]	Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	copy number gain	See cases [RCV000142310]	Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29	pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	copy number gain	See cases [RCV000143694]	Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29	pathogenic
GRCh38/hg38 3q29(chr3:193704605-198125115)x3	copy number gain	See cases [RCV000143501]	Chr3:193704605..198125115 [GRCh38] Chr3:193422394..197851986 [GRCh37] Chr3:194905088..199336383 [NCBI36] Chr3:3q29	pathogenic
GRCh37/hg19 3q29(chr3:193944478-194483962)x1	copy number loss	See cases [RCV000239429]	Chr3:193944478..194483962 [GRCh37] Chr3:3q29	pathogenic\|uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	copy number gain	See cases [RCV000447464]	Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29	pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4	copy number gain	See cases [RCV000446732]	Chr3:181911498..197851986 [GRCh37] Chr3:3q26.33-29	pathogenic
GRCh37/hg19 3q29(chr3:194310930-194669386)x3	copy number gain	See cases [RCV000445885]	Chr3:194310930..194669386 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3q29(chr3:193952869-194669386)x3	copy number gain	See cases [RCV000448609]	Chr3:193952869..194669386 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3	copy number gain	See cases [RCV000448608]	Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_153690.5(FAM43A):c.1232A>G (p.Gln411Arg)	single nucleotide variant	not specified [RCV004303165]	Chr3:194688058 [GRCh38] Chr3:194408787 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	copy number gain	not provided [RCV000682336]	Chr3:182539234..197851986 [GRCh37] Chr3:3q26.33-29	pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	copy number gain	not provided [RCV000682339]	Chr3:184003967..197851986 [GRCh37] Chr3:3q27.1-29	pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	copy number gain	not provided [RCV000682344]	Chr3:187913567..197851986 [GRCh37] Chr3:3q28-29	pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	copy number gain	not provided [RCV000682346]	Chr3:191593619..197851986 [GRCh37] Chr3:3q28-29	pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	copy number gain	not provided [RCV000682341]	Chr3:186374365..197851986 [GRCh37] Chr3:3q27.3-29	pathogenic
GRCh37/hg19 3q29(chr3:194388927-194710972)x3	copy number gain	not provided [RCV000682352]	Chr3:194388927..194710972 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3	copy number gain	not provided [RCV000742968]	Chr3:173281266..197838262 [GRCh37] Chr3:3q26.31-29	pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3	copy number gain	not provided [RCV000743037]	Chr3:186374671..197838262 [GRCh37] Chr3:3q27.3-29	pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1	copy number loss	not provided [RCV000743049]	Chr3:189101446..197838262 [GRCh37] Chr3:3q28-29	pathogenic
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	copy number gain	See cases [RCV000790566]	Chr3:188386566..197838262 [GRCh37] Chr3:3q28-29	pathogenic
NM_153690.5(FAM43A):c.889G>A (p.Glu297Lys)	single nucleotide variant	not provided [RCV000965661]	Chr3:194687715 [GRCh38] Chr3:194408444 [GRCh37] Chr3:3q29	benign
NM_153690.5(FAM43A):c.747G>T (p.Lys249Asn)	single nucleotide variant	not provided [RCV000892170]	Chr3:194687573 [GRCh38] Chr3:194408302 [GRCh37] Chr3:3q29	benign
GRCh37/hg19 3q29(chr3:194363991-194497236)x3	copy number gain	not provided [RCV000846896]	Chr3:194363991..194497236 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.1031G>A (p.Gly344Asp)	single nucleotide variant	not specified [RCV004283791]	Chr3:194687857 [GRCh38] Chr3:194408586 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3q29(chr3:194161542-194998084)x3	copy number gain	not provided [RCV001249377]	Chr3:194161542..194998084 [GRCh37] Chr3:3q29	not provided
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	copy number loss	3q28q29 deletion syndrome [RCV001786535]	Chr3:189608636..197532175 [GRCh37] Chr3:3q28-29	pathogenic
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	copy number loss	not provided [RCV001795848]	Chr3:191866466..197842171 [GRCh37] Chr3:3q28-29	pathogenic
GRCh37/hg19 3q29(chr3:192607378-194745252)	copy number loss	not specified [RCV002053400]	Chr3:192607378..194745252 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	copy number gain	See cases [RCV002286344]	Chr3:183498520..197851986 [GRCh37] Chr3:3q27.1-29	pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	copy number gain	Isolated anorectal malformation [RCV002286610]	Chr3:171558472..197871052 [GRCh37] Chr3:3q26.31-29	likely pathogenic
NM_153690.5(FAM43A):c.179A>C (p.Lys60Thr)	single nucleotide variant	not specified [RCV004170115]	Chr3:194687005 [GRCh38] Chr3:194407734 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.1193C>G (p.Pro398Arg)	single nucleotide variant	not specified [RCV004113847]	Chr3:194688019 [GRCh38] Chr3:194408748 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3q29(chr3:193396762-195009038)x3	copy number gain	not provided [RCV002475814]	Chr3:193396762..195009038 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.430G>C (p.Val144Leu)	single nucleotide variant	not specified [RCV004162048]	Chr3:194687256 [GRCh38] Chr3:194407985 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.40G>C (p.Glu14Gln)	single nucleotide variant	not specified [RCV004082686]	Chr3:194686866 [GRCh38] Chr3:194407595 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.259G>A (p.Gly87Ser)	single nucleotide variant	not specified [RCV004149194]	Chr3:194687085 [GRCh38] Chr3:194407814 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.718C>T (p.Pro240Ser)	single nucleotide variant	not specified [RCV004125079]	Chr3:194687544 [GRCh38] Chr3:194408273 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.132A>T (p.Glu44Asp)	single nucleotide variant	not specified [RCV004115701]	Chr3:194686958 [GRCh38] Chr3:194407687 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.854G>T (p.Arg285Leu)	single nucleotide variant	not specified [RCV004127662]	Chr3:194687680 [GRCh38] Chr3:194408409 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.136G>A (p.Ala46Thr)	single nucleotide variant	not specified [RCV004162104]	Chr3:194686962 [GRCh38] Chr3:194407691 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.1007C>T (p.Ala336Val)	single nucleotide variant	not specified [RCV004167886]	Chr3:194687833 [GRCh38] Chr3:194408562 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.1009G>C (p.Gly337Arg)	single nucleotide variant	not specified [RCV004312066]	Chr3:194687835 [GRCh38] Chr3:194408564 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.997G>C (p.Gly333Arg)	single nucleotide variant	not specified [RCV004322738]	Chr3:194687823 [GRCh38] Chr3:194408552 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.1163G>A (p.Gly388Asp)	single nucleotide variant	not specified [RCV004325779]	Chr3:194687989 [GRCh38] Chr3:194408718 [GRCh37] Chr3:3q29	uncertain significance
GRCh37/hg19 3q29(chr3:193343827-194599635)x1	copy number loss	Autosomal dominant optic atrophy classic form [RCV003329547]	Chr3:193343827..194599635 [GRCh37] Chr3:3q29	likely pathogenic
NM_153690.5(FAM43A):c.880G>C (p.Glu294Gln)	single nucleotide variant	not specified [RCV004342842]	Chr3:194687706 [GRCh38] Chr3:194408435 [GRCh37] Chr3:3q29	uncertain significance
Single allele	duplication	not provided [RCV003448704]	Chr3:176412210..197847235 [GRCh37] Chr3:3q26.32-29	pathogenic
Single allele	duplication	not provided [RCV003448680]	Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29	pathogenic
NM_153690.5(FAM43A):c.983G>A (p.Gly328Asp)	single nucleotide variant	not provided [RCV003439097]	Chr3:194687809 [GRCh38] Chr3:194408538 [GRCh37] Chr3:3q29	likely benign
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	copy number gain	See cases [RCV004442807]	Chr3:179313373..197851444 [GRCh37] Chr3:3q26.33-29	pathogenic
NM_153690.5(FAM43A):c.554C>T (p.Ala185Val)	single nucleotide variant	not specified [RCV004381352]	Chr3:194687380 [GRCh38] Chr3:194408109 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.757A>C (p.Ile253Leu)	single nucleotide variant	not specified [RCV004381353]	Chr3:194687583 [GRCh38] Chr3:194408312 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.116C>T (p.Ala39Val)	single nucleotide variant	not specified [RCV004381350]	Chr3:194686942 [GRCh38] Chr3:194407671 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.52C>G (p.Arg18Gly)	single nucleotide variant	not specified [RCV004381351]	Chr3:194686878 [GRCh38] Chr3:194407607 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.814G>A (p.Glu272Lys)	single nucleotide variant	not specified [RCV004381354]	Chr3:194687640 [GRCh38] Chr3:194408369 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.842A>T (p.Glu281Val)	single nucleotide variant	not specified [RCV004381355]	Chr3:194687668 [GRCh38] Chr3:194408397 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.976G>A (p.Gly326Arg)	single nucleotide variant	not specified [RCV004345012]	Chr3:194687802 [GRCh38] Chr3:194408531 [GRCh37] Chr3:3q29	uncertain significance
NM_153690.5(FAM43A):c.581A>G (p.Asn194Ser)	single nucleotide variant	not specified [RCV004337875]	Chr3:194687407 [GRCh38] Chr3:194408136 [GRCh37] Chr3:3q29	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	542
Count of miRNA genes:	412
Interacting mature miRNAs:	452
Transcripts:	ENST00000329759
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

STS-W92258

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	194,409,423 - 194,409,605	UniSTS	GRCh37
Build 36	3	195,890,712 - 195,890,894	RGD	NCBI36
Celera	3	192,823,235 - 192,823,417	RGD
Cytogenetic Map	3	q29	UniSTS
HuRef	3	191,787,579 - 191,787,761	UniSTS
GeneMap99-GB4 RH Map	3	726.48	UniSTS

SHGC-34977

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	194,409,618 - 194,409,749	UniSTS	GRCh37
Build 36	3	195,890,907 - 195,891,038	RGD	NCBI36
Celera	3	192,823,430 - 192,823,561	RGD
Cytogenetic Map	3	q29	UniSTS
HuRef	3	191,787,774 - 191,787,905	UniSTS
Stanford-G3 RH Map	3	8536.0	UniSTS
GeneMap99-G3 RH Map	3	9006.0	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

1890

706

883

136

645

2801

1094

1294

169

985

1186

1180

1439

Low

540

2225

833

479

1214

394

1555

1102

2427

235

466

410

1348

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_153690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC046143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF147314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF289585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074503	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC039689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG107959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG110772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI494721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM561125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ009970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000329759 ⟹ ENSP00000371397

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	194,685,883 - 194,689,037 (+)	Ensembl

RefSeq Acc Id:

NM_153690 ⟹ NP_710157

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	194,685,883 - 194,689,037 (+)	NCBI
GRCh37	3	194,406,622 - 194,409,766 (+)	RGD
Build 36	3	195,887,911 - 195,891,055 (+)	NCBI Archive
Celera	3	192,820,433 - 192,823,578 (+)	RGD
HuRef	3	191,784,777 - 191,787,922 (+)	ENTREZGENE
CHM1_1	3	194,369,331 - 194,372,476 (+)	NCBI
T2T-CHM13v2.0	3	197,382,461 - 197,385,616 (+)	NCBI

Sequence:

show sequence

AAGGATGTGAGGCAGGCGAGCCGGACGCCGCTCGCAGCACCGGAGAGGGCGCACTGCAAAGGCG
GGCAGCAGACCGTGGAGAGCCCGGGAGCGGAGCTGGACACCGCCTCGGAGGGAAGAAATGAGGT
AGCGGCGGTTCCCGGACCCGGCCATGCCCGTCCCCTGTTCTCGGAGCCCAGCGCCGTCTCGGCC
AGGCCAGCCCGGACACTGAGCGGGCCGAGCGCGAGTCCCCGGCGTCCGGCGGAGCGAAGATGCA
GTGAGTCCCCGCGGGACTGCTGCGCGGGGCCCGCCGCGGCCAGCCGGACCCAGCATCCGACCGC
ACTTTGGGCGAGCTGCTGACTTGAGACCAGCCCAAACGGGGGGCTTTCCATCTCCAGCACCCCT
CGGAGGTGGGGAGCACCGGCCCCTAGGCACACTCGCTGTAGAGTTTCCGCGGGTTTTGGCCCCA
GTCCTGAGGGTTGTGTGTGTTAGGGGACCCACCTCACGTTCGCCGAGGAGTTCCTGCATATTCT
TGCACCATCCCGGGTGCTGTTGCTGGGGCTCTCTTTATTTGCACGCGCGCTTCTAGCTTTTTTC
CTGACATTTTCCACTCTACGCTCGTTCTTTCTCCCTTGCATTTTGTTGCTTGCCTGAGACTCTT
TGCTCTCGCCCTTGCCCAGGCTGGGGTAATTCTGTGTGCGCGCGTGTCTCCCCCGCACCAACCT
TTTTTGCACACTCGAAGCTGAATATTTTCTTTTTTAGAGAATTTACCCGCACCTCCTGCGGGGT
TCCTAAGCACTCTCTCTGCTCCCCTCCCCCCAACTCCCTACCACAGGGCCGCTCCCAGTAGTTT
TATTCTTCGATCTTGCCCGGGCCGAGCCTGGCAGGGGCCGGTGGCTCAGCGGGCCTCGCACCCG
GCGCTCCGCCGCCGCCGCCGCCCAGCTGCGCCGGGGCGCCCTCCGGAGATGCTGCCGTGGAAGA
AGCACAAGTTCGAGCTGCTGGCCGAGGCGCCGCCGCGGCAGGCGTCCAAGCCCAAGGGCTACGC
TGTGAGCCTGCACTACTCGGCGCTCAGCTCGCTGGCGCGGGCGTGCCCCGAAGGCGCGCTTAGC
CGGGTGGGCAGCATGTTCCGCTCCAAGCGCAAGAAGCTGCACATCACTAGCGAGGACCCAACTT
ACACCGTGCTCTACCTGGGCAATGCCACCACCATCCAGGCGCGCGGCGACGGCTGCACCGACCT
TGCTGTGGGCAAGATCTGGAGCAAGAGCGAGGCGGGCCGTCAGGGCACCAAGATGAAGCTGACG
GTGAGTGCGCAGGGTATCCGCATGGTGCACGCCGAGGAGCGCGCGCTGCGCCGCCCGGGCCACC
TCTACCTGCTGCACCGCGTCACCTACTGCGTGGCCGACGCGCGGCTGCCCAAGGTCTTCGCCTG
GGTGTACCGGCACGAGCTGAAGCACAAGGCCGTGATGCTGCGCTGCCACGCCGTGCTGGTGTCC
AAGCCCGAAAAGGCGCAGGCCATGGCCCTGCTGCTCTACCAGACGTCGGCCAACGCGCTGGCGG
AATTTAAACGCCTCAAGCGGCGGGACGACGCGCGTCACCAGCAGCAGGAGCTGGTGGGCGCACA
CACCATCCCGCTAGTGCCGCTGCGCAAGCTGCTCCTACACGGACCCTGCTGCTATAAACCGCCG
GTGGAGCGCAGCCGCAGCGCGCCCAAGCTTGGCTCCATCACCGAGGACCTGCTCGGCGAACAGC
TGGAGCAGGAGCTGCAGGAGGAAGAGGAAGAGGAGCAACCCGAGGGCTGCCCGGAGGAGGAGGA
GAACCGTGCGGCAGAGGGAGATCCAGCAGAGGAGGAGGCCGAGGCGCAGCGTGCGCTAGTGGTC
GCCATGCACTTTGAGTGCGGGGACTTGTTGGATACTCTGGAGAATGGCCGTGGGGAGGCGCTAG
GAGGCGGCGGGGGCTCCCTGGGCCCGGGGGCCGGGCCGCCGCCTCTGCTGCTGGGCAGCGCCTC
CGACATGAAGGCTGAGCTGTCGCAACTTATTAGCGACCTGGGCGAGCTCAGCTTCGGCAACGAC
GTGCGCACCCTGCAGGCCGACTTGCGGGTGACGCGCCTGCTGTCAGGCGACAGCACGGGCAGCG
AGAGCTCCATCGAGGGCGGGGGCCCTGACGCCACCTCCGCCACCGCCGGGGACTCGTCCCGCCA
GGCCGACGGCGCCAGTGCAGACGAGCCCCACTCGGGCTGAGCTCCTCCGCGCGTCGCCGGCGCT
CCACCGTGGCTACCCATCCGTGGTCCCGACAACCTCCCTGTCCCTTGCCCGCCCCCAGGAAGGG
GGAAATGGGGCATTTGGGGCCCAGACCTACACTTGGAGCCCAGGTCCAGCGTTCCCCCGACCGC
TTTCCCCTACCTCCCGGCCCCCGCTCCCGCCCCAGCACTTTTGGCTCTGTTGCGCGTGGGGATG
CGGGGAGATTTGAGAGGGGAAAACCCCGCCAGGAGGGAGAGAGAGGCACCCCTCTGGGATGCGG
GTGAGGGAAGGTTGGCTGAAGTTCCTAGTCTCAGGCCGTAGGTGCCTGGCCAGTTTCCTGTTTG
TGGGGCAGCTGGGGCCTGAGGAGGAGGGGTTCACTTCCTCCTCCCACCCCCTGGGAGCGGCCCT
GCGCTGTCACTGACATCTCATTAAAAAAAAAAAAAAATTTGCTCTCAAGGTGTTTGAGGCTTTA
ATGCAACCCTTTAGCCCTTGGTTCTTTTTGGTGCAAGAATTCTGGCTGTTTACCTCAGACTCAG
ACCCCTGAAATGTTGCCAAATTCTTCAAATAACTGTTTGGGGGGTGGGGGGAGATGAAAGAGAG
TCGCGTTTTGTTTACAGTTAAAGACATCCAATATCTTAAAAAGGAGTTTTCCTTTAGAAACACA
CACACCCTTCCTCTTGCTCAAAAGATCTCACTCCATGATACTGTGTAAAATATTTTTGCACTGT
TGTGAAGTATTTTTGACTTTTTTCTGTACATAACTGTGTTCTCAGAGCTGAATGTTTATATCTT
TTGCTGTGCAAAAGAAACATGTAAAATGTTGTTCAGTTGTATATACAGAAATGTGTATAAAACA
TTTTGTTATTTTTTAAAAGTAGCACTGTTCTGGTTCTGTTTGCACGCCAGTGGGGAGAGAATAA
AGAGGAAAATTTAACAGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_710157	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH39689	(Get FASTA)	NCBI Sequence Viewer
	AAH64989	(Get FASTA)	NCBI Sequence Viewer
	AAL55769	(Get FASTA)	NCBI Sequence Viewer
	BAC11027	(Get FASTA)	NCBI Sequence Viewer
	EAW78033	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000371397
	ENSP00000371397.1
GenBank Protein	Q8N2R8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_710157 ⟸ NM_153690

- UniProtKB:

Q8IXP4 (UniProtKB/Swiss-Prot), A3KME2 (UniProtKB/Swiss-Prot), Q8WZ07 (UniProtKB/Swiss-Prot), Q8N2R8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MLPWKKHKFELLAEAPPRQASKPKGYAVSLHYSALSSLARACPEGALSRVGSMFRSKRKKLHIT
SEDPTYTVLYLGNATTIQARGDGCTDLAVGKIWSKSEAGRQGTKMKLTVSAQGIRMVHAEERAL
RRPGHLYLLHRVTYCVADARLPKVFAWVYRHELKHKAVMLRCHAVLVSKPEKAQAMALLLYQTS
ANALAEFKRLKRRDDARHQQQELVGAHTIPLVPLRKLLLHGPCCYKPPVERSRSAPKLGSITED
LLGEQLEQELQEEEEEEQPEGCPEEEENRAAEGDPAEEEAEAQRALVVAMHFECGDLLDTLENG
RGEALGGGGGSLGPGAGPPPLLLGSASDMKAELSQLISDLGELSFGNDVRTLQADLRVTRLLSG
DSTGSESSIEGGGPDATSATAGDSSRQADGASADEPHSG

hide sequence

RefSeq Acc Id:

ENSP00000371397 ⟸ ENST00000329759

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N2R8-F1-model_v2	AlphaFold	Q8N2R8	1-423	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26888	AgrOrtholog
COSMIC	FAM43A	COSMIC
Ensembl Genes	ENSG00000185112	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000329759	ENTREZGENE
	ENST00000329759.6	UniProtKB/Swiss-Prot
Gene3D-CATH	2.30.29.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000185112	GTEx
HGNC ID	HGNC:26888	ENTREZGENE
Human Proteome Map	FAM43A	Human Proteome Map
InterPro	FAM43A/B_PTB	UniProtKB/Swiss-Prot
	PH-like_dom_sf	UniProtKB/Swiss-Prot
	PTB/PI_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:131583	UniProtKB/Swiss-Prot
NCBI Gene	131583	ENTREZGENE
PANTHER	PHOSPHOTYROSINE INTERACTION DOMAIN-CONTAINING FAMILY MEMBER	UniProtKB/Swiss-Prot
	PROTEIN FAM43A	UniProtKB/Swiss-Prot
Pfam	PID_2	UniProtKB/Swiss-Prot
PharmGKB	PA134950686	PharmGKB
SMART	PTB	UniProtKB/Swiss-Prot
Superfamily-SCOP	PH domain-like	UniProtKB/Swiss-Prot
UniProt	A3KME2	ENTREZGENE
	FA43A_HUMAN	UniProtKB/Swiss-Prot
	Q8IXP4	ENTREZGENE
	Q8N2R8	ENTREZGENE
	Q8WZ07	ENTREZGENE
UniProt Secondary	A3KME2	UniProtKB/Swiss-Prot
	Q8IXP4	UniProtKB/Swiss-Prot
	Q8WZ07	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM43A	family with sequence similarity 43 member A		family with sequence similarity 43, member A	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 - CTD