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Gene: CIAO2A (cytosolic iron-sulfur assembly component 2A) Homo sapiens

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Symbol:

CIAO2A

Name:

cytosolic iron-sulfur assembly component 2A

RGD ID:

1602086

HGNC Page

HGNC:26235

Description:

Predicted to enable metal ion binding activity. Involved in protein maturation. Located in cytosol and nucleoplasm. Part of cytosolic [4Fe-4S] assembly targeting complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CIA2A; FAM96A; family with sequence similarity 96 member A; family with sequence similarity 96, member A; FLJ22875; MIP18 family protein FAM96A

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

CIAO2AP1 CIAO2AP2

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	15	64,072,565 - 64,093,838 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	64,072,114 - 64,094,262 (-)	Ensembl			hg38	GRCh38
GRCh37	15	64,364,764 - 64,386,037 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	62,151,814 - 62,173,260 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Celera	15	41,244,173 - 41,265,622 (-)	NCBI		Celera
Cytogenetic Map	15	q22.31	NCBI
HuRef	15	41,189,395 - 41,210,854 (-)	NCBI		HuRef
CHM1_1	15	64,484,272 - 64,505,725 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	61,879,723 - 61,900,991 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

colorectal cancer (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

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

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

antimycin A (EXP)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

cisplatin (EXP)

copper(II) sulfate (EXP)

crocidolite asbestos (ISO)

cyclosporin A (EXP)

DDE (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

doxorubicin (EXP)

flutamide (ISO)

folic acid (ISO)

ivermectin (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methimazole (ISO)

monosodium L-glutamate (ISO)

nefazodone (ISO)

nimesulide (ISO)

nitrates (ISO)

okadaic acid (EXP)

oxaliplatin (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorobutanesulfonic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

pirinixic acid (ISO)

rotenone (EXP)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

tetrachloromethane (ISO)

tolcapone (ISO)

topotecan (ISO)

triadimefon (ISO)

trimellitic anhydride (ISO)

triphenyl phosphate (EXP)

urethane (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromosome segregation (IEA)

protein maturation (IBA,IEA,IMP)

Cellular Component

cytoplasm (IEA)

cytosol (IDA)

cytosolic [4Fe-4S] assembly targeting complex (IDA)

nucleoplasm (IDA)

Molecular Function

metal ion binding (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

cytosolic iron-sulfur cluster protein assembly pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.	Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2.	Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability.	Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:14702039	PMID:15146197	PMID:15489334	PMID:15851553	PMID:16189514	PMID:21516116	PMID:22683786	PMID:23891004	PMID:24981860	PMID:25416956
PMID:25716227	PMID:26344197	PMID:28443470	PMID:28615450	PMID:32222833	PMID:32296183	PMID:33393230	PMID:33961781	PMID:34315543	PMID:35337019	PMID:35513087	PMID:35545034
PMID:36897256	PMID:36966392	PMID:37536630	PMID:40355756

Genomics

Comparative Map Data

CIAO2A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	64,072,565 - 64,093,838 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	64,072,114 - 64,094,262 (-)	Ensembl			hg38	GRCh38
GRCh37	15	64,364,764 - 64,386,037 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	62,151,814 - 62,173,260 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Celera	15	41,244,173 - 41,265,622 (-)	NCBI		Celera
Cytogenetic Map	15	q22.31	NCBI
HuRef	15	41,189,395 - 41,210,854 (-)	NCBI		HuRef
CHM1_1	15	64,484,272 - 64,505,725 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	61,879,723 - 61,900,991 (-)	NCBI		T2T-CHM13v2.0

Ciao2a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	66,033,878 - 66,046,250 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	66,033,893 - 66,046,237 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	9	66,126,596 - 66,138,968 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	66,126,611 - 66,138,955 (+)	Ensembl			mm10	GRCm38
MGSCv37	9	65,974,418 - 65,986,775 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	9	65,924,617 - 65,936,974 (+)	NCBI		MGSCv36	mm8
Celera	9	63,362,237 - 63,374,668 (+)	NCBI		Celera
Cytogenetic Map	9	C	NCBI
cM Map	9	35.73	NCBI

Ciao2a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	75,565,620 - 75,577,542 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	8	75,565,567 - 75,577,541 (+)	Ensembl				GRCr8
mRatBN7.2	8	66,670,533 - 66,682,455 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	66,670,483 - 66,682,455 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	8	72,183,136 - 72,195,001 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	70,456,195 - 70,468,054 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	68,326,000 - 68,337,909 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	71,786,336 - 71,798,258 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	71,786,310 - 71,798,266 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	8	71,455,249 - 71,467,171 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	8	70,410,776 - 70,422,702 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	8	66,058,924 - 66,070,845 (+)	NCBI		Celera
RGSC_v3.1	8	70,429,829 - 70,441,755 (+)	NCBI
Cytogenetic Map	8	q24	NCBI

Ciao2a
(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_004955450	11,306,099 - 11,331,758 (+)	Ensembl
ChiLan1.0	NW_004955450	11,306,099 - 11,327,688 (+)	NCBI	ChiLan1.0	ChiLan1.0

CIAO2A
(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	16	53,327,864 - 53,351,078 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	57,503,133 - 57,526,346 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	43,025,577 - 43,047,013 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	61,317,188 - 61,338,337 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	61,317,188 - 61,338,337 (-)	Ensembl			panPan2	panpan1.1

CIAO2A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	28,582,048 - 28,597,856 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	28,582,902 - 28,597,748 (-)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	28,501,777 - 28,517,587 (-)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	30	28,758,001 - 28,773,814 (-)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	30	28,758,012 - 28,773,776 (-)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	30	28,692,569 - 28,708,362 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	30	28,755,102 - 28,770,923 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	30	28,993,565 - 29,009,399 (-)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Ciao2a
(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_024408640	106,699,806 - 106,719,929 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	24,548,235 - 24,567,792 (-)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	24,547,862 - 24,568,003 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CIAO2A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	107,951,646 - 107,969,298 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	1	107,951,618 - 107,969,306 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CIAO2A
(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	26	19,448,702 - 19,470,212 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	19,448,903 - 19,469,756 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666048	121,923,113 - 121,945,326 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ciao2a
(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_004624781	8,467,683 - 8,485,677 (+)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624781	8,467,682 - 8,485,677 (+)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Ciao2a
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	8	60,462,052 - 60,473,124 (+)	NCBI		Rrattus_CSIRO_v1

Variants

Variants in CIAO2A
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
Single allele	deletion	Nemaline myopathy 6 [RCV000677940]	Chr15:63414894..66439797 [GRCh37] Chr15:15q22.2-22.31	likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
NM_032231.7(CIAO2A):c.143G>A (p.Arg48Gln)	single nucleotide variant	not specified [RCV004314469]	Chr15:64088833 [GRCh38] Chr15:64381032 [GRCh37] Chr15:15q22.31	uncertain significance
NC_000015.9:g.(?_62146656)_(64747263_?)del	deletion	not provided [RCV003107781]	Chr15:62146656..64747263 [GRCh37] Chr15:15q22.2-22.31	pathogenic
NM_032231.7(CIAO2A):c.23T>C (p.Leu8Pro)	single nucleotide variant	not specified [RCV004321051]	Chr15:64093746 [GRCh38] Chr15:64385945 [GRCh37] Chr15:15q22.31	uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_032231.7(CIAO2A):c.313C>G (p.Gln105Glu)	single nucleotide variant	not specified [RCV004287076]	Chr15:64081128 [GRCh38] Chr15:64373327 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.16G>C (p.Gly6Arg)	single nucleotide variant	not specified [RCV004268804]	Chr15:64093753 [GRCh38] Chr15:64385952 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.128T>C (p.Leu43Ser)	single nucleotide variant	not specified [RCV004348347]	Chr15:64088848 [GRCh38] Chr15:64381047 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.142C>T (p.Arg48Trp)	single nucleotide variant	not specified [RCV004339092]	Chr15:64088834 [GRCh38] Chr15:64381033 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.137C>G (p.Thr46Ser)	single nucleotide variant	not specified [RCV004441723]	Chr15:64088839 [GRCh38] Chr15:64381038 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.262C>T (p.Pro88Ser)	single nucleotide variant	not specified [RCV004441726]	Chr15:64088714 [GRCh38] Chr15:64380913 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.457G>A (p.Glu153Lys)	single nucleotide variant	not specified [RCV004441729]	Chr15:64072957 [GRCh38] Chr15:64365156 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.452T>C (p.Ile151Thr)	single nucleotide variant	not specified [RCV004441728]	Chr15:64072962 [GRCh38] Chr15:64365161 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.28T>G (p.Trp10Gly)	single nucleotide variant	not specified [RCV004441727]	Chr15:64093741 [GRCh38] Chr15:64385940 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.241A>G (p.Ile81Val)	single nucleotide variant	not specified [RCV004441725]	Chr15:64088735 [GRCh38] Chr15:64380934 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.47T>G (p.Leu16Arg)	single nucleotide variant	not specified [RCV004441731]	Chr15:64093722 [GRCh38] Chr15:64385921 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.445C>T (p.Arg149Trp)	single nucleotide variant	not specified [RCV004610620]	Chr15:64072969 [GRCh38] Chr15:64365168 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.419C>T (p.Ala140Val)	single nucleotide variant	not specified [RCV005319383]	Chr15:64072995 [GRCh38] Chr15:64365194 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.188C>T (p.Ser63Leu)	single nucleotide variant	not specified [RCV005319380]	Chr15:64088788 [GRCh38] Chr15:64380987 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.139A>C (p.Ile47Leu)	single nucleotide variant	not specified [RCV005319379]	Chr15:64088837 [GRCh38] Chr15:64381036 [GRCh37] Chr15:15q22.31	uncertain significance
NM_032231.7(CIAO2A):c.464G>A (p.Cys155Tyr)	single nucleotide variant	not specified [RCV005319381]	Chr15:64072950 [GRCh38] Chr15:64365149 [GRCh37] Chr15:15q22.31	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	964
Count of miRNA genes:	604
Interacting mature miRNAs:	669
Transcripts:	ENST00000300030, ENST00000380290, ENST00000557835, ENST00000558779, ENST00000559705, ENST00000559950
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.

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
628372405	GWAS2293249_H	Thyroid stimulating hormone level QTL GWAS2293249 (human)		1e-08	Thyroid stimulating hormone level		15	64073141	64073142	Human
407113221	GWAS762197_H	erythrocyte count QTL GWAS762197 (human)		6e-12	erythrocyte count		15	64078423	64078424	Human
628965049	GWAS2873278_H	hematocrit QTL GWAS2873278 (human)		4e-08	erythrocyte morphology trait (VT:0002447)	hematocrit (CMO:0000037)	15	64090539	64090540	Human
628801136	GWAS2709365_H	Thyroid stimulating hormone level QTL GWAS2709365 (human)		1e-08	Thyroid stimulating hormone level		15	64073141	64073142	Human
597145863	GWAS1241937_H	thyroid stimulating hormone measurement QTL GWAS1241937 (human)		1e-08	thyroid stimulating hormone measurement		15	64073141	64073142	Human
597286977	GWAS1383051_H	IGA glomerulonephritis QTL GWAS1383051 (human)		1e-12	IGA glomerulonephritis		15	64088949	64088950	Human
628696736	GWAS2604965_H	vaginal microbiome measurement QTL GWAS2604965 (human)		0.000006	vaginal microbiome measurement		15	64074144	64074145	Human
628579820	GWAS2488049_H	monocyte count QTL GWAS2488049 (human)		9e-11	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	15	64090539	64090540	Human
617268247	GWAS2205023_H	linoleic acid measurement QTL GWAS2205023 (human)		1e-10	linoleic acid measurement		15	64083717	64083718	Human
617280791	GWAS2217567_H	fatty acid amount QTL GWAS2217567 (human)		8e-09	omega-6 polyunsaturated fatty acid measurement		15	64083717	64083718	Human
628936930	GWAS2845159_H	omega-6 polyunsaturated fatty acid measurement QTL GWAS2845159 (human)		8e-09	fatty acid amount (VT:0010046)		15	64083717	64083718	Human
407286630	GWAS935606_H	vaginal microbiome measurement QTL GWAS935606 (human)		0.000006	vaginal microbiome measurement		15	64074144	64074145	Human
617260266	GWAS2197042_H	fatty acid amount QTL GWAS2197042 (human)		2e-09	fatty acid amount		15	64083717	64083718	Human
596988791	GWAS1108310_H	monocyte count QTL GWAS1108310 (human)		9e-11	monocyte count		15	64090539	64090540	Human
597292859	GWAS1388933_H	monocyte count QTL GWAS1388933 (human)		9e-11	monocyte count		15	64090539	64090540	Human
407038177	GWAS687153_H	thyroid stimulating hormone measurement QTL GWAS687153 (human)		1e-08	thyroid stimulating hormone measurement		15	64073141	64073142	Human
628812895	GWAS2721124_H	IGA glomerulonephritis QTL GWAS2721124 (human)		1e-12	kidney glomerulus integrity trait (VT:0010546)		15	64088949	64088950	Human
628951380	GWAS2859609_H	fatty acid amount QTL GWAS2859609 (human)		2e-09	fatty acid amount		15	64083717	64083718	Human
628607066	GWAS2515295_H	cystitis QTL GWAS2515295 (human)		4e-08	cystitis		15	64080336	64080337	Human
407184426	GWAS833402_H	cystitis QTL GWAS833402 (human)		4e-08	cystitis		15	64080336	64080337	Human
597317098	GWAS1413172_H	vaginal microbiome measurement QTL GWAS1413172 (human)		0.000006	vaginal microbiome measurement		15	64074144	64074145	Human
628928334	GWAS2836563_H	linoleic acid measurement QTL GWAS2836563 (human)		1e-10	fatty acid amount (VT:0010046)	blood free fatty acids level (CMO:0000117)	15	64083717	64083718	Human
598068945	GWAS1788244_H	thyroid stimulating hormone amount QTL GWAS1788244 (human)		1e-08	thyroid stimulating hormone amount		15	64073141	64073142	Human
597047650	GWAS1143724_H	erythrocyte count QTL GWAS1143724 (human)		6e-12	erythrocyte count	red blood cell count (CMO:0000025)	15	64078423	64078424	Human
626457888	GWAS2271821_H	hematocrit QTL GWAS2271821 (human)		4e-08	hematocrit		15	64090539	64090540	Human
596977250	GWAS1096769_H	IGA glomerulonephritis QTL GWAS1096769 (human)		1e-12	IGA glomerulonephritis		15	64088949	64088950	Human
597164960	GWAS1261034_H	cystitis QTL GWAS1261034 (human)		4e-08	cystitis		15	64080336	64080337	Human

Markers in Region

RH70413

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	64,376,542 - 64,376,662	UniSTS	GRCh37
Build 36	15	62,163,595 - 62,163,715	RGD	NCBI36
Celera	15	41,255,954 - 41,256,074	RGD
Cytogenetic Map	15	q22.31	UniSTS
HuRef	15	41,201,185 - 41,201,305	UniSTS
GeneMap99-GB4 RH Map	15	221.72	UniSTS
NCBI RH Map	15	369.4	UniSTS

RH16689

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	64,364,959 - 64,365,063	UniSTS	GRCh37
Build 36	15	62,152,012 - 62,152,116	RGD	NCBI36
Celera	15	41,244,371 - 41,244,475	RGD
Cytogenetic Map	15	q22.31	UniSTS
HuRef	15	41,189,593 - 41,189,697	UniSTS

FLJ22875

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	228,302,377 - 228,302,520	UniSTS	GRCh37
GRCh37	15	64,364,806 - 64,364,949	UniSTS	GRCh37
Build 36	1	226,369,000 - 226,369,143	RGD	NCBI36
Celera	1	201,492,609 - 201,492,752	RGD
Celera	15	41,244,218 - 41,244,361	UniSTS
HuRef	15	41,189,440 - 41,189,583	UniSTS
HuRef	1	198,817,498 - 198,817,641	UniSTS

G19675

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	64,364,959 - 64,365,063	UniSTS	GRCh37
Build 36	15	62,152,012 - 62,152,116	RGD	NCBI36
Celera	15	41,244,371 - 41,244,475	RGD
Cytogenetic Map	15	q22.31	UniSTS
HuRef	15	41,189,593 - 41,189,697	UniSTS

RH45603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	64,370,399 - 64,370,546	UniSTS	GRCh37
Build 36	15	62,157,452 - 62,157,599	RGD	NCBI36
Celera	15	41,249,813 - 41,249,960	RGD
Cytogenetic Map	15	q22.31	UniSTS
HuRef	15	41,195,038 - 41,195,185	UniSTS
GeneMap99-GB4 RH Map	15	219.96	UniSTS
NCBI RH Map	15	372.8	UniSTS

RH45716

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	64,364,861 - 64,365,016	UniSTS	GRCh37
Build 36	15	62,151,914 - 62,152,069	RGD	NCBI36
Celera	15	41,244,273 - 41,244,428	RGD
Cytogenetic Map	15	q22.31	UniSTS
HuRef	15	41,189,495 - 41,189,650	UniSTS
GeneMap99-GB4 RH Map	15	230.25	UniSTS

RH66054

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	15	q22.31	UniSTS
GeneMap99-GB4 RH Map	1	723.47	UniSTS
NCBI RH Map	1	2059.9	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001014812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA809560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC021541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM706342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ269528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD722050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN421575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS072305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC415981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000300030 ⟹ ENSP00000300030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,565 - 64,093,838 (-)	Ensembl

Ensembl Acc Id:

ENST00000380290 ⟹ ENSP00000369644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,578 - 64,094,262 (-)	Ensembl

Ensembl Acc Id:

ENST00000557835 ⟹ ENSP00000454079

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,074,318 - 64,094,262 (-)	Ensembl

Ensembl Acc Id:

ENST00000558779

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,565 - 64,093,838 (-)	Ensembl

Ensembl Acc Id:

ENST00000559705 ⟹ ENSP00000453210

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,981 - 64,094,262 (-)	Ensembl

Ensembl Acc Id:

ENST00000559950 ⟹ ENSP00000452953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,075,405 - 64,094,262 (-)	Ensembl

Ensembl Acc Id:

ENST00000851936 ⟹ ENSP00000521995

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,114 - 64,093,857 (-)	Ensembl

Ensembl Acc Id:

ENST00000851937 ⟹ ENSP00000521996

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,564 - 64,093,920 (-)	Ensembl

Ensembl Acc Id:

ENST00000851938 ⟹ ENSP00000521997

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,567 - 64,093,797 (-)	Ensembl

Ensembl Acc Id:

ENST00000927117 ⟹ ENSP00000597176

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,562 - 64,093,934 (-)	Ensembl

Ensembl Acc Id:

ENST00000927118 ⟹ ENSP00000597177

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,565 - 64,093,900 (-)	Ensembl

Ensembl Acc Id:

ENST00000927119 ⟹ ENSP00000597178

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	64,072,565 - 64,093,853 (-)	Ensembl

RefSeq Acc Id:

NM_001014812 ⟹ NP_001014812

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	64,072,565 - 64,093,838 (-)	NCBI
GRCh37	15	64,364,761 - 64,386,207 (-)	RGD
Build 36	15	62,151,814 - 62,173,260 (-)	NCBI Archive
Celera	15	41,244,173 - 41,265,622 (-)	RGD
HuRef	15	41,189,392 - 41,210,854 (-)	NCBI
CHM1_1	15	64,484,269 - 64,505,725 (-)	NCBI
T2T-CHM13v2.0	15	61,879,723 - 61,900,991 (-)	NCBI

Sequence:

show sequence

GATCAATCCCGAGGCTGCTGAGAGACGGTGGCGCGATTGGGACAGTCGCCAGGGATGGCTGAGC
GTGAAGATGCAGCGGGTGTCCGGGCTGCTCTCCTGGACGCTGAGCAGAGTCCTGTGGCTCTCCG
GCCTCTCTGAGCCGGGAGCTGCCCGGCAGCCCCGGATCATGGAAGAGAAAGCGCTAGAAGTTTA
TGATTTGATTAGAACTATCCGGGACCCAGAAAAGCCCAATACTTTAGAAGAACTGGAAGTGGTC
TCGGAAAGTTGTGTGGAAGTTCAGGAGATAAATGAAGAAGAATATCTGGTTATTATCAGGTTCA
CGCCAACAGTACCTCATTGCTCTTTGGCGACTCTTATTGTTGGAAATCTACATTTCTGAAGGAA
CCCACTCAACAGAAGAAGACATCAATAAGCAGATAAATGACAAAGAGCGAGTGGCAGCTGCAAT
GGAAAACCCCAACTTACGGGAAATTGTGGAACAGTGTGTCCTTGAACCTGACTGATAGCTGTTT
TAAGAGCCACTGGCCTGTAATTGTTTGATATATTTGTTTAAACTCTTTGTATAATGTCAGAGAC
TCATGTTTAATACATAGGTGATTTGTACCTCAGAGTATTTTTTAAAGGATTCTTTCCAAGCGAG
ATTTAATTATAAGGTAGTACCTAATTTGTTCAATGTATAACATTCTCAGGATTTGTAACACTTA
AATGATCAGACAGAATAATATTTTCTAGTTATTATGTGCAAGATGAGTTGCTATTTTTCTGATG
CTCATTCTGATACAACTATTTTTCGTGTCAAATATCTACTGTGCCCAAATGTACTCAATTTAAA
TCATTACTCTGTAAAATAAATAAGCAGATGATTCTTA

hide sequence

RefSeq Acc Id:

NM_001289108 ⟹ NP_001276037

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	64,072,565 - 64,093,838 (-)	NCBI
HuRef	15	41,189,392 - 41,210,854 (-)	NCBI
CHM1_1	15	64,484,269 - 64,505,725 (-)	NCBI
T2T-CHM13v2.0	15	61,879,723 - 61,900,991 (-)	NCBI

Sequence:

show sequence

GATCAATCCCGAGGCTGCTGAGAGACGGTGGCGCGATTGGGACAGTCGCCAGGGATGGCTGAGC
GTGAAGATGCAGCGGGTGTCCGGGCTGCTCTCCTGGACGCTGAGCAGAGTCCTGTGGCTCTCCG
GCCTCTCTGAGCCGGGAGCTGCCCGGCAGCCCCGGATCATGGAAGAGAAAGCGCTAGAAGTTTA
TGATTTGATTAGAACTATCCGGGACCCAGAAAAGCCCAATACTTTAGAAGAACTGGAAGTGGTC
TCGGAAAGTTGTGTGGAAGTTCAGGAGATAAATGAAGAAGAATATCTGGTTATTATCAGGTTCA
CGCCAACAGTACCTCATTGCTCTTTGGCGACTCTTATTGTTGGAAATCTACATTTCTGAAGGAA
CCCACTCAACAGAAGAAGACAGTAAGTGAATGTTGAAACATAATTGAAAAACAACTTCAGATAG
TATTTTATCTTGGATACTGGATTCTTCTGCCAGCCAAGAATCTACTGGGTTACTTTCAAAAAAG
TGCACAATTGGTTATTGGCTCTTCCTTCCTAGGTGAGGAAACCTAGGCATTTCAAAGAAGTAAT
TTTTGCAGTGGACTCCGAGTGCACTAGAGCCCACGGATGTTGACTGGTTTAGGCCAGTGGCTAC
ACATCTGTAAAGAATATCCAGTGCTGGGGACCTTGACTTATGAGCTCTAAGTAGGCTTCTTTTC
TTTGGTGACAGGATAGAGAGCTGTGTACTTGAAATTGAAGGTCTAGCAAGTAGAGCTTTAGTGA
ATCTTGGGGTAGGTGCTGTCTCTCTGGGTTAGTATATTAGAATGGGAGTGGGGAACCTTTTTTA
TATAGAGGACCTCTGGCCTACAGAGAGAAATCAATCAGTAGCTACTTAAAAATAGCAGAAGTGG
GGTTTGGGAAAAGCAAAAAACAAAATGTTCTGTATGATCCCTGTGTTACATTAAAAACATAATT
TTAATGTTTTTAATCTACAAATGATAGAGTGCAAATAATGAGAAATACATTTAAAAGGCATGTT
GTACTTAAGTTTCATCACTAAGTAAATTGAGAAGGTGGGAAAAAATAGCAGAGGAATGGAAGAA
AGAGCTAATAGAGGAAGAGCAACAGTGAGATAGATACCAAGAAGACTCAGAAAGGCATACACAG
GGCTGGAGAGAGACACACAAAATCTCCTACATAAAAGAGAGCTATAGAGAGGGAAGCCTGCTGC
TTCCAGAGGAACAGCCTATCCAGGAAACTTTTTAGGTACTGTCATGAAAACTGTTAAAAACCAT
GCCCTATTTATAGTTCTAGACATGTAGATTATTATACTCTTTGTGGGCTGAATTTCTTTAAACC
CCACGAGCTGAGGGCTTCTACCTGTAATTTAGAAAAATAAGAGTTTAGGTACCCTAAATCCACT
CAGGTTATCGTTTTGAAATTCCTTGAATGATAGGATTTTACAGCAGCAATAGTATTAAGTCTTA
TGAGTCTTGTTTTTCATTTAGTAAGTATTTATTAAGTGCCTTCTATGTGTGGGTACAGTTCAGC
CTTTGAGATACATTCCTGCCTTTGTGGAGCCTACATTGTAGTAGGAAGAAACCAAATTGAAAGT
ATTTTCGCAGGAATATGTGTATGTTTGTGTGTCTTCTACATGAGACATTTCAGCGGCAGCCCAG
AAAACTCAATCCACATTAAGAATATAGTCGTCTCTCTTTTGAACTCTTCTATTAAGAATGCTGT
TAGCTAATTACAGAAAACATAATGGGCCAATACCTTTATTATATGAAGATCCATTCAAACTAAT
TTTAAAAAAAGATCTAGTAGATTAATAGAGACATGAACAGGAAATTCATGCAAGAAGAACTAAT
ATATGCACATGGAAAATGTTCTATTTTCCTATTAGTCAAGGAAATGCAAATTATGACAATAATA
TTGAGCCGTTTTCCATCTCCTGTTTTATGTATGTATATATGTGTATTTGTTTTTATTAAATAAT
ACCAGCTATTGCCCGGGCATGGTGGTTCACACCTGTAACCCTAGCACTTTGGGAGGCCAAGGCG
AGAGAATGCCTTGAGGGAAGGAGTTTGAGGCCAGGATTTCAAGACTAGCCTGGGCAACATGGTG
AGACCCTGTCTCTACGAAAATATTTGAAAATTAGCCAGGTGTGGTGGTTCATGCCTGTGGGAGG
CTGAGGTAGGAGGATCTCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATTGCACCACT
GCACTCCAGCCTGGATGACAGAGCAGGACCCTGTCTCAAAGAATAATAATAACAATGATAATAA
TACCAGGTATTGTTGCCAAACTGATAGCTCATGTATTGGTGTTGACAATATAAACTGGTGAGTA
ATTTTAGGAAGTAAATCAATGATATGAATCACACCATAAAAATATTCATACTCTTAAAAATAAT
CCCATTTTTGAGAATATTTCCAAAAAGAAGGCTATATGTTTAAAGGTATTCATTGTAGCATAGT
CTTCATAATTACTTTAGAACACTTAAGACTTTTACCATGTTAAATAACCCTGTAGTTTAAAATA
TAGGCTTATGGGGGAAAAAATAGCAATTTTCAAAATTATATTTACTCTGAATGTAACTGTATAA
AAATATGTGTATGGACAAAGACTGGAAAGAAAAAAATAGATGTGGTTAAGTAGTAGAATTCTAG
TAGATATTTTTCTCTTAAGTCTGCCTTCTAGATGGGAAATTACATTATGAGTAATTAGCCAAAA
ACAGGTTTAAGTTCTCAAGGAGTTAAAGTTTTTGTTTCAGCAGGCTAATAAAAATACTGTCTGG
TGCTGTATATTGACACAGTTCTTCTGCTAACTTTTGTCTGTGTATTTTTCAGTCAATAAGCAGA
TAAATGACAAAGAGCGAGTGGCAGCTGCAATGGAAAACCCCAACTTACGGGAAATTGTGGAACA
GTGTGTCCTTGAACCTGACTGATAGCTGTTTTAAGAGCCACTGGCCTGTAATTGTTTGATATAT
TTGTTTAAACTCTTTGTATAATGTCAGAGACTCATGTTTAATACATAGGTGATTTGTACCTCAG
AGTATTTTTTAAAGGATTCTTTCCAAGCGAGATTTAATTATAAGGTAGTACCTAATTTGTTCAA
TGTATAACATTCTCAGGATTTGTAACACTTAAATGATCAGACAGAATAATATTTTCTAGTTATT
ATGTGCAAGATGAGTTGCTATTTTTCTGATGCTCATTCTGATACAACTATTTTTCGTGTCAAAT
ATCTACTGTGCCCAAATGTACTCAATTTAAATCATTACTCTGTAAAATAAATAAGCAGATGATT
CTTA

hide sequence

RefSeq Acc Id:

NM_032231 ⟹ NP_115607

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	64,072,565 - 64,093,838 (-)	NCBI
GRCh37	15	64,364,761 - 64,386,207 (-)	RGD
Build 36	15	62,151,814 - 62,173,260 (-)	NCBI Archive
Celera	15	41,244,173 - 41,265,622 (-)	RGD
HuRef	15	41,189,392 - 41,210,854 (-)	NCBI
CHM1_1	15	64,484,269 - 64,505,725 (-)	NCBI
T2T-CHM13v2.0	15	61,879,723 - 61,900,991 (-)	NCBI

Sequence:

show sequence

GATCAATCCCGAGGCTGCTGAGAGACGGTGGCGCGATTGGGACAGTCGCCAGGGATGGCTGAGC
GTGAAGATGCAGCGGGTGTCCGGGCTGCTCTCCTGGACGCTGAGCAGAGTCCTGTGGCTCTCCG
GCCTCTCTGAGCCGGGAGCTGCCCGGCAGCCCCGGATCATGGAAGAGAAAGCGCTAGAAGTTTA
TGATTTGATTAGAACTATCCGGGACCCAGAAAAGCCCAATACTTTAGAAGAACTGGAAGTGGTC
TCGGAAAGTTGTGTGGAAGTTCAGGAGATAAATGAAGAAGAATATCTGGTTATTATCAGGTTCA
CGCCAACAGTACCTCATTGCTCTTTGGCGACTCTTATTGGGCTGTGCTTAAGAGTAAAACTTCA
GCGATGTTTACCATTTAAACATAAGTTGGAAATCTACATTTCTGAAGGAACCCACTCAACAGAA
GAAGACATCAATAAGCAGATAAATGACAAAGAGCGAGTGGCAGCTGCAATGGAAAACCCCAACT
TACGGGAAATTGTGGAACAGTGTGTCCTTGAACCTGACTGATAGCTGTTTTAAGAGCCACTGGC
CTGTAATTGTTTGATATATTTGTTTAAACTCTTTGTATAATGTCAGAGACTCATGTTTAATACA
TAGGTGATTTGTACCTCAGAGTATTTTTTAAAGGATTCTTTCCAAGCGAGATTTAATTATAAGG
TAGTACCTAATTTGTTCAATGTATAACATTCTCAGGATTTGTAACACTTAAATGATCAGACAGA
ATAATATTTTCTAGTTATTATGTGCAAGATGAGTTGCTATTTTTCTGATGCTCATTCTGATACA
ACTATTTTTCGTGTCAAATATCTACTGTGCCCAAATGTACTCAATTTAAATCATTACTCTGTAA
AATAAATAAGCAGATGATTCTTA

hide sequence

RefSeq Acc Id:

NR_110310

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	64,072,565 - 64,093,838 (-)	NCBI
HuRef	15	41,189,392 - 41,210,854 (-)	NCBI
CHM1_1	15	64,484,269 - 64,505,725 (-)	NCBI
T2T-CHM13v2.0	15	61,879,723 - 61,900,991 (-)	NCBI

Sequence:

show sequence

GATCAATCCCGAGGCTGCTGAGAGACGGTGGCGCGATTGGGACAGTCGCCAGGGATGGCTGAGC
GTGAAGATGCAGCGGGTGTCCGGGCTGCTCTCCTGGACGCTGAGCAGAGTCCTGTGGCTCTCCG
GCCTCTCTGAGCCGGGAGCTGCCCGGCAGCCCCGGATCATGGAAGAGAAAGCGCTAGAAGTTTA
TGGTTGGAATGCAATGGCGGGATCTCGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGTGATT
CTCCTGCCTCAGTCTCCTAAGTAGCTGGGATTACAGGCGCCCGGCACCACGCCTGGATTTGATT
AGAACTATCCGGGACCCAGAAAAGCCCAATACTTTAGAAGAACTGGAAGTGGTCTCGGAAAGTT
GTGTGGAAGTTCAGGAGATAAATGAAGAAGAATATCTGGTTATTATCAGGTTCACGCCAACAGT
ACCTCATTGCTCTTTGGCGACTCTTATTGGGCTGTGCTTAAGAGTAAAACTTCAGCGATGTTTA
CCATTTAAACATAAGTTGGAAATCTACATTTCTGAAGGAACCCACTCAACAGAAGAAGACATCA
ATAAGCAGATAAATGACAAAGAGCGAGTGGCAGCTGCAATGGAAAACCCCAACTTACGGGAAAT
TGTGGAACAGTGTGTCCTTGAACCTGACTGATAGCTGTTTTAAGAGCCACTGGCCTGTAATTGT
TTGATATATTTGTTTAAACTCTTTGTATAATGTCAGAGACTCATGTTTAATACATAGGTGATTT
GTACCTCAGAGTATTTTTTAAAGGATTCTTTCCAAGCGAGATTTAATTATAAGGTAGTACCTAA
TTTGTTCAATGTATAACATTCTCAGGATTTGTAACACTTAAATGATCAGACAGAATAATATTTT
CTAGTTATTATGTGCAAGATGAGTTGCTATTTTTCTGATGCTCATTCTGATACAACTATTTTTC
GTGTCAAATATCTACTGTGCCCAAATGTACTCAATTTAAATCATTACTCTGTAAAATAAATAAG
CAGATGATTCTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001014812	(Get FASTA)	NCBI Sequence Viewer
	NP_001276037	(Get FASTA)	NCBI Sequence Viewer
	NP_115607	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH08865	(Get FASTA)	NCBI Sequence Viewer
	BAG35105	(Get FASTA)	NCBI Sequence Viewer
	BAH14131	(Get FASTA)	NCBI Sequence Viewer
	CAI93443	(Get FASTA)	NCBI Sequence Viewer
	EAW77660	(Get FASTA)	NCBI Sequence Viewer
	EAW77661	(Get FASTA)	NCBI Sequence Viewer
	EAW77662	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000300030
	ENSP00000300030.3
	ENSP00000369644
	ENSP00000369644.3
	ENSP00000454079
	ENSP00000454079.1
GenBank Protein	Q9H5X1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_115607 ⟸ NM_032231
- Peptide Label:	isoform a
- UniProtKB:	B2R5F8 (UniProtKB/Swiss-Prot), A6NKS1 (UniProtKB/Swiss-Prot), B7Z8Z5 (UniProtKB/Swiss-Prot), Q9H5X1 (UniProtKB/Swiss-Prot), H0YKV4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIRDPEKPNTLEELEVVSE SCVEVQEINEEEYLVIIRFTPTVPHCSLATLIGLCLRVKLQRCLPFKHKLEIYISEGTHSTEED INKQINDKERVAAAMENPNLREIVEQCVLEPD hide sequence

RefSeq Acc Id:	NP_001014812 ⟸ NM_001014812
- Peptide Label:	isoform b
- UniProtKB:	Q9H5X1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIRDPEKPNTLEELEVVSE SCVEVQEINEEEYLVIIRFTPTVPHCSLATLIVGNLHF hide sequence

RefSeq Acc Id:	NP_001276037 ⟸ NM_001289108
- Peptide Label:	isoform b
- UniProtKB:	Q9H5X1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIRDPEKPNTLEELEVVSE SCVEVQEINEEEYLVIIRFTPTVPHCSLATLIVGNLHF hide sequence

Ensembl Acc Id:

ENSP00000454079 ⟸ ENST00000557835

Ensembl Acc Id:

ENSP00000452953 ⟸ ENST00000559950

Ensembl Acc Id:

ENSP00000453210 ⟸ ENST00000559705

Ensembl Acc Id:

ENSP00000300030 ⟸ ENST00000300030

Ensembl Acc Id:

ENSP00000369644 ⟸ ENST00000380290

Ensembl Acc Id:

ENSP00000521997 ⟸ ENST00000851938

Ensembl Acc Id:

ENSP00000597178 ⟸ ENST00000927119

Ensembl Acc Id:

ENSP00000521995 ⟸ ENST00000851936

Ensembl Acc Id:

ENSP00000597176 ⟸ ENST00000927117

Ensembl Acc Id:

ENSP00000597177 ⟸ ENST00000927118

Ensembl Acc Id:

ENSP00000521996 ⟸ ENST00000851937

Protein Domains

MIP18 family-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H5X1-F1-model_v2	AlphaFold	Q9H5X1	1-160	view protein structure

Promoters

RGD ID:

6792333

Promoter ID:

HG_KWN:21636

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000380290, NM_001014812, OTTHUMT00000256520

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	62,172,986 - 62,173,542 (-)	MPROMDB

RGD ID:

7229753

Promoter ID:

EPDNEW_H20622

Type:

initiation region

Name:

FAM96A_1

Description:

family with sequence similarity 96 member A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20623

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	64,093,795 - 64,093,855	EPDNEW

RGD ID:

7229757

Promoter ID:

EPDNEW_H20623

Type:

initiation region

Name:

FAM96A_2

Description:

family with sequence similarity 96 member A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20622

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	64,093,929 - 64,093,989	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26235	AgrOrtholog
COSMIC	CIAO2A	COSMIC
Ensembl Genes	ENSG00000166797	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000300030	ENTREZGENE
	ENST00000300030.8	UniProtKB/Swiss-Prot
	ENST00000380290	ENTREZGENE
	ENST00000380290.8	UniProtKB/Swiss-Prot
	ENST00000557835	ENTREZGENE
	ENST00000557835.6	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.300.130	UniProtKB/Swiss-Prot
	6.10.250.1280	UniProtKB/Swiss-Prot
GTEx	ENSG00000166797	GTEx
HGNC ID	HGNC:26235	ENTREZGENE
Human Proteome Map	CIAO2A	Human Proteome Map
InterPro	FSCA_dom_sf	UniProtKB/Swiss-Prot
	MIP18	UniProtKB/Swiss-Prot
	MIP18-like	UniProtKB/Swiss-Prot
KEGG Report	hsa:84191	UniProtKB/Swiss-Prot
NCBI Gene	84191	ENTREZGENE
OMIM	618382	OMIM
PANTHER	CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 2A	UniProtKB/Swiss-Prot
	PTHR12377	UniProtKB/Swiss-Prot
Pfam	FeS_assembly_P	UniProtKB/Swiss-Prot
PharmGKB	PA142671829	PharmGKB
Superfamily-SCOP	SSF117916	UniProtKB/Swiss-Prot
UniProt	A0AAQ5BII0_HUMAN	UniProtKB/TrEMBL
	A6NKS1	ENTREZGENE
	B2R5F8	ENTREZGENE
	B7Z8Z5	ENTREZGENE
	CIA2A_HUMAN	UniProtKB/Swiss-Prot
	H0YKV4	ENTREZGENE, UniProtKB/TrEMBL
	H0YLH6_HUMAN	UniProtKB/TrEMBL
	Q9H5X1	ENTREZGENE
UniProt Secondary	A6NKS1	UniProtKB/Swiss-Prot
	B2R5F8	UniProtKB/Swiss-Prot
	B7Z8Z5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-05-22	CIAO2A	cytosolic iron-sulfur assembly component 2A	FAM96A	family with sequence similarity 96 member A	Symbol and/or name change	5135510	APPROVED
2015-11-24	FAM96A	family with sequence similarity 96 member A		family with sequence similarity 96, 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 - ClinVar

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