CIMIP2B (ciliary microtubule inner protein 2B)

Gene: CIMIP2B (ciliary microtubule inner protein 2B) Homo sapiens

Analyze

Symbol:

CIMIP2B

Name:

ciliary microtubule inner protein 2B

RGD ID:

2293907

HGNC Page

HGNC:34242

Description:

Located in axonemal microtubule; INTERACTS WITH 2-hydroxypropanoic acid; aflatoxin B1; benzo[a]pyrene.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FAM166B; family with sequence similarity 166 member B; family with sequence similarity 166, member B; hypothetical protein LOC730112; MGC157846

RGD Orthologs

Alliance Genes

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	9	35,561,831 - 35,563,878 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	35,561,831 - 35,563,899 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	35,561,828 - 35,563,875 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	35,551,946 - 35,553,896 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	35,495,505 - 35,497,455 (-)	NCBI		Celera
Cytogenetic Map	9	p13.3	NCBI
HuRef	9	35,517,450 - 35,519,507 (-)	NCBI		HuRef
CHM1_1	9	35,561,615 - 35,563,684 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	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

acromesomelic dysplasia, Maroteaux type (IAGP)

anauxetic dysplasia (IAGP)

autosomal recessive distal hereditary motor neuronopathy 2 (IAGP)

distal arthrogryposis type 1A (IAGP)

frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (IAGP)

galactosemia (IAGP)

genetic disease (IAGP)

hyperphosphatasia with impaired intellectual development syndrome 2 (IAGP)

Meckel syndrome (IAGP)

primary ciliary dyskinesia (IAGP)

Stuve-Wiedemann Syndrome 2 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2-hydroxypropanoic acid (EXP)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

butanal (EXP)

carbon nanotube (ISO)

dibenz[a,h]anthracene (ISO)

dorsomorphin (EXP)

ozone (ISO)

pentanal (EXP)

pirinixic acid (ISO)

rac-lactic acid (EXP)

SB 431542 (EXP)

titanium dioxide (ISO)

torcetrapib (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

axonemal microtubule (IDA,ISS)

cell projection (IEA)

cytoplasm (IEA)

cytoskeleton (IEA)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:29955039	PMID:32296183	PMID:33961781	PMID:36191189	PMID:37327785

Genomics

Comparative Map Data

CIMIP2B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	35,561,831 - 35,563,878 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	35,561,831 - 35,563,899 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	35,561,828 - 35,563,875 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	35,551,946 - 35,553,896 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	35,495,505 - 35,497,455 (-)	NCBI		Celera
Cytogenetic Map	9	p13.3	NCBI
HuRef	9	35,517,450 - 35,519,507 (-)	NCBI		HuRef
CHM1_1	9	35,561,615 - 35,563,684 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	NCBI		T2T-CHM13v2.0

Cimip2b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	43,427,014 - 43,431,451 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	43,427,019 - 43,429,134 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	43,427,014 - 43,432,131 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	43,427,019 - 43,429,134 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	43,439,892 - 43,442,006 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	43,448,118 - 43,450,234 (-)	NCBI		MGSCv36	mm8
Celera	4	43,457,880 - 43,459,953 (-)	NCBI		Celera
Cytogenetic Map	4	A5	NCBI
cM Map	4	23.03	NCBI

Cimip2b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	62,471,246 - 62,477,812 (-)	NCBI		GRCr8
mRatBN7.2	5	57,675,537 - 57,680,133 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	57,675,462 - 57,678,611 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	5	58,883,064 - 58,884,136 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	5	63,407,869 - 63,408,778 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	5	56,257,243 - 56,260,232 (-)	NCBI		Celera
Cytogenetic Map	5	q22	NCBI

Cimip2b
(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_004955472	696,157 - 697,922 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955472	695,955 - 698,086 (+)	NCBI	ChiLan1.0	ChiLan1.0

CIMIP2B
(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	11	88,983,565 - 89,027,436 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	88,988,509 - 89,033,356 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	35,411,930 - 35,442,971 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	36,216,030 - 36,247,009 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	36,216,030 - 36,260,042 (-)	Ensembl	panpan1.1		panPan2

CIMIP2B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	52,144,806 - 52,164,782 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	52,144,801 - 52,146,823 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	50,712,692 - 50,733,829 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	53,210,226 - 53,231,165 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	53,210,222 - 53,212,244 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	51,754,916 - 51,775,827 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	51,738,156 - 51,759,223 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	52,440,221 - 52,461,383 (-)	NCBI		UU_Cfam_GSD_1.0

Cimip2b
(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_024404947	167,046,919 - 167,049,481 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936524	3,594,552 - 3,596,371 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936524	3,594,530 - 3,597,055 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CIMIP2B
(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	236,322,897 - 236,324,981 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	236,322,893 - 236,325,008 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	264,047,558 - 264,050,843 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CIMIP2B
(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	12	44,991,633 - 45,041,573 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	45,039,593 - 45,041,415 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	42,147,571 - 42,151,282 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cimip2b
(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_004624915	701,983 - 708,079 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CIMIP2B
13 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	copy number gain	See cases [RCV000050357]	Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	copy number gain	See cases [RCV000051106]	Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3	copy number gain	See cases [RCV000053703]	Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	copy number gain	See cases [RCV000053747]	Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	copy number gain	See cases [RCV000133829]	Chr9:33225730..38529813 [GRCh38] Chr9:33225728..38529810 [GRCh37] Chr9:33215728..38519810 [NCBI36] Chr9:9p13.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	copy number gain	See cases [RCV000135344]	Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11	pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	copy number loss	See cases [RCV000134762]	Chr9:33572681..36782015 [GRCh38] Chr9:33572679..36782012 [GRCh37] Chr9:33562679..36772012 [NCBI36] Chr9:9p13.3-13.2	pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	copy number gain	See cases [RCV000136152]	Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12	pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	copy number gain	See cases [RCV000135954]	Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13	pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	copy number gain	See cases [RCV000137741]	Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	copy number gain	See cases [RCV000137888]	Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	copy number gain	See cases [RCV000139208]	Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	copy number gain	See cases [RCV000139126]	Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	copy number gain	See cases [RCV000140448]	Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11	pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	copy number gain	See cases [RCV000141904]	Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	copy number gain	See cases [RCV000141663]	Chr9:31426827..68257015 [GRCh38] Chr9:31426825..68330127 [GRCh37] Chr9:31416825..67819947 [NCBI36] Chr9:9p21.1-q21.11	pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	copy number gain	See cases [RCV000142317]	Chr9:28975663..38787483 [GRCh38] Chr9:28975661..38787480 [GRCh37] Chr9:28965661..38777480 [NCBI36] Chr9:9p21.1-13.1	likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	copy number gain	See cases [RCV000143012]	Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	copy number gain	See cases [RCV000143411]	Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	copy number gain	See cases [RCV000148159]	Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	copy number gain	See cases [RCV000240201]	Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	copy number gain	See cases [RCV000240048]	Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	copy number gain	See cases [RCV000239869]	Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4	copy number gain	See cases [RCV000449165]	Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	copy number gain	See cases [RCV000446521]	Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	copy number gain	See cases [RCV000447246]	Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	copy number gain	See cases [RCV000448242]	Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3	copy number gain	See cases [RCV000448569]	Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	copy number gain	See cases [RCV000510864]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	copy number gain	See cases [RCV000510986]	Chr9:17132123..35567051 [GRCh37] Chr9:9p22.2-13.3	pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup	duplication	Hyperphosphatasia with intellectual disability syndrome 2 [RCV000540114]	Chr9:34458984..35809462 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	copy number gain	See cases [RCV000512431]	Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299]	Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2	likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	copy number gain	not provided [RCV000683173]	Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	copy number gain	not provided [RCV000683172]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	copy number gain	not provided [RCV000683174]	Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	copy number gain	not provided [RCV000683176]	Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	copy number gain	not provided [RCV000683175]	Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup	duplication	Anauxetic dysplasia [RCV000708053]	Chr9:34645559..36277062 [GRCh38] Chr9:34645556..36277059 [GRCh37] Chr9:9p13.3	uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup	duplication	Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492]	Chr9:34458984..36277059 [GRCh37] Chr9:9p13.3	uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del	deletion	Hyperphosphatasia with intellectual disability syndrome 2 [RCV000708109]	Chr9:34458984..35809462 [GRCh37] Chr9:9p13.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
Single allele	complex	Glioma [RCV000754871]	Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33	likely pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	copy number loss	Neurodevelopmental disorder [RCV001580195]	Chr9:35059633..37660586 [GRCh37] Chr9:9p13.3-13.2	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	copy number gain	not provided [RCV000767644]	Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	copy number gain	not provided [RCV000849826]	Chr9:34542635..68210033 [GRCh37] Chr9:9p13.3-q13	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	copy number gain	not provided [RCV000848175]	Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1	pathogenic
NM_001164310.3(CIMIP2B):c.12_13insTAAG	insertion	Meckel-Gruber syndrome [RCV001175206]	Chr9:35561994..35561995 [GRCh38] Chr9:35561991..35561992 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	copy number gain	not provided [RCV000845815]	Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	copy number gain	not provided [RCV001006167]	Chr9:203861..70984588 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	copy number gain	not provided [RCV001259519]	Chr9:32192406..38311776 [GRCh37] Chr9:9p21.1-13.2	likely pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)del	deletion	Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817]	Chr9:34459004..36276941 [GRCh37] Chr9:9p13.3	pathogenic
NC_000009.11:g.12246100_101559378inv	inversion	Recurrent spontaneous abortion [RCV000999471]	Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33	likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup	duplication	Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]\|Arthrogryposis, distal, type 1A [RCV003119438]\|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]\|Primary ciliary dyskinesia [RCV003119439]\|not provided [RCV003154083]	Chr9:32453279..37785041 [GRCh37] Chr9:9p21.1-13.2	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	copy number gain	not specified [RCV002053819]	Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)	copy number gain	not specified [RCV002053818]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	copy number gain	not specified [RCV002053820]	Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32	pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup	duplication	Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515]	Chr9:34459004..36276941 [GRCh37] Chr9:9p13.3	uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup	duplication	Anauxetic dysplasia [RCV003114124]	Chr9:34370797..36276941 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	copy number loss	Distal tetrasomy 15q [RCV002280776]	Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1	uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	copy number gain	Tetrasomy 9p [RCV002280656]	Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	copy number gain	Bradycardia [RCV002280662]	Chr9:203861..68342786 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	copy number gain	MISSED ABORTION [RCV002282974]	Chr9:203861..35903398 [GRCh37] Chr9:9p24.3-13.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	copy number gain	Syndromic anorectal malformation [RCV002286608]	Chr9:48827..39154913 [GRCh37] Chr9:9p24.3-13.1	likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	copy number gain	See cases [RCV002292402]	Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11	pathogenic
NM_001164310.3(CIMIP2B):c.5C>T (p.Ala2Val)	single nucleotide variant	Inborn genetic diseases [RCV002849047]	Chr9:35563824 [GRCh38] Chr9:35563821 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.26C>T (p.Pro9Leu)	single nucleotide variant	Inborn genetic diseases [RCV002884253]	Chr9:35563803 [GRCh38] Chr9:35563800 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.287G>T (p.Gly96Val)	single nucleotide variant	Inborn genetic diseases [RCV002822626]	Chr9:35563080 [GRCh38] Chr9:35563077 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.449C>T (p.Pro150Leu)	single nucleotide variant	Inborn genetic diseases [RCV002978279]	Chr9:35562918 [GRCh38] Chr9:35562915 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.298C>T (p.Arg100Trp)	single nucleotide variant	Inborn genetic diseases [RCV002704451]	Chr9:35563069 [GRCh38] Chr9:35563066 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.524C>T (p.Pro175Leu)	single nucleotide variant	Inborn genetic diseases [RCV002809916]	Chr9:35562669 [GRCh38] Chr9:35562666 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.656A>G (p.Gln219Arg)	single nucleotide variant	Inborn genetic diseases [RCV002987877]	Chr9:35562463 [GRCh38] Chr9:35562460 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.305A>C (p.Gln102Pro)	single nucleotide variant	Inborn genetic diseases [RCV002703427]	Chr9:35563062 [GRCh38] Chr9:35563059 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.173G>A (p.Arg58His)	single nucleotide variant	Inborn genetic diseases [RCV002677519]	Chr9:35563279 [GRCh38] Chr9:35563276 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.583G>A (p.Gly195Ser)	single nucleotide variant	Inborn genetic diseases [RCV003179262]	Chr9:35562536 [GRCh38] Chr9:35562533 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.721T>C (p.Tyr241His)	single nucleotide variant	Inborn genetic diseases [RCV003197143]	Chr9:35562398 [GRCh38] Chr9:35562395 [GRCh37] Chr9:9p13.3	uncertain significance
NM_001164310.3(CIMIP2B):c.649A>G (p.Ser217Gly)	single nucleotide variant	Inborn genetic diseases [RCV003213220]	Chr9:35562470 [GRCh38] Chr9:35562467 [GRCh37] Chr9:9p13.3	uncertain significance
NM_014806.5(RUSC2):c.3983G>A (p.Cys1328Tyr)	single nucleotide variant	Stuve-Wiedemann syndrome 2 [RCV003319482]\|not provided [RCV001880635]	Chr9:35560623 [GRCh38] Chr9:35560620 [GRCh37] Chr9:9p13.3	uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	copy number gain	not provided [RCV003484765]	Chr9:1475882..38771831 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	copy number loss	not specified [RCV003986844]	Chr9:35440393..38787480 [GRCh37] Chr9:9p13.3-13.1	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1421
Count of miRNA genes:	551
Interacting mature miRNAs:	609
Transcripts:	ENST00000399742, ENST00000447837, ENST00000478246, ENST00000480287, ENST00000492890
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

WI-14686

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	35,561,717 - 35,561,841	UniSTS	GRCh37
Build 36	9	35,551,717 - 35,551,841	RGD	NCBI36
Celera	9	35,495,276 - 35,495,400	RGD
Cytogenetic Map	9	p13.3	UniSTS
HuRef	9	35,517,340 - 35,517,464	UniSTS
Whitehead-RH Map	9	151.5	UniSTS

HSC03D022

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	35,561,688 - 35,561,889	UniSTS	GRCh37
Build 36	9	35,551,688 - 35,551,889	RGD	NCBI36
Celera	9	35,495,247 - 35,495,448	RGD
Cytogenetic Map	9	p13.3	UniSTS
HuRef	9	35,517,311 - 35,517,512	UniSTS
GeneMap99-GB4 RH Map	9	157.09	UniSTS
Whitehead-RH Map	9	147.3	UniSTS
NCBI RH Map	9	522.7	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

adipose tissue

appendage

entire extraembryonic component

High

Medium

363

226

1090

775

148

180

190

964

Low

2157

1433

1340

526

803

378

3120

1027

2872

342

1256

1248

154

998

1788

Below cutoff

257

1106

116

943

135

388

694

121

175

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001099951	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001164310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054363742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI383111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC129999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC171840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC171851	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB241755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000399742 ⟹ ENSP00000382646

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,561,831 - 35,563,878 (-)	Ensembl

RefSeq Acc Id:

ENST00000447837 ⟹ ENSP00000412746

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,561,949 - 35,563,899 (-)	Ensembl

RefSeq Acc Id:

ENST00000478246

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,562,157 - 35,562,957 (-)	Ensembl

RefSeq Acc Id:

ENST00000480287

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,561,835 - 35,563,047 (-)	Ensembl

RefSeq Acc Id:

ENST00000492890

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,561,831 - 35,563,874 (-)	Ensembl

RefSeq Acc Id:

ENST00000619051 ⟹ ENSP00000480923

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	35,561,832 - 35,563,899 (-)	Ensembl

RefSeq Acc Id:

NM_001099951 ⟹ NP_001093421

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,561,831 - 35,563,878 (-)	NCBI
GRCh37	9	35,561,827 - 35,563,896 (-)	ENTREZGENE
GRCh37	9	35,561,827 - 35,563,896 (-)	NCBI
Build 36	9	35,551,946 - 35,553,896 (-)	NCBI Archive
Celera	9	35,495,505 - 35,497,455 (-)	RGD
HuRef	9	35,517,450 - 35,519,507 (-)	ENTREZGENE
CHM1_1	9	35,561,615 - 35,563,684 (-)	NCBI
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	NCBI

Sequence:

show sequence

AGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGGCTCCCCATGGCTGTGGCCAG
CACCTTCATACCAGGGCTCAACCCTCAGAACCCTCATTATATCCCAGGGTACACTGGACACTGC
CCACTACTTCGGTTCAGCGTGGGCCAGACCTATGGGCAGGTGACTGGTCAGCTACTTCGAGGCC
CTCCTGGCCTAGCCTGGCCCCCTGTCCACCGCACACTTCTGCCTCCCATTCGGCCTCCAAGATC
TCCTGAGGTTCCCAGGGAGAGTCTACCTGTCAGGCGTGGGCAAGAAAGGCTCAGCTCCAGCATG
ATCCCTGGGTACACAGGTTTTGTACCCCGGGCACAGTTCATCTTTGCCAAGAACTGCAGCCAGG
TCTGGGCCGAGGCTCTGAGTGACTTTACTCACTTGCATGAAAAGCAAGGGAGTGAAGAGCTACC
AAAGGAGGCCAAGGGAAGAAAGGACACAGAGAAGGACCAGGTGCCAGAGCCGGAGGGGCAGCTG
GAGGAGCCGACACTGGAGGTGGTGGAACAAGCTTCTCCCTACTCCATGGATGACAGGGACCCTC
GGAAGTTCTTCATGTCAGGCACTGCAGGAATTTGGGCAGAAGCACTCACCAGGCAGTGCCCAGG
ACCCCAAACATCTCCCCCCACTTCCCAGAACATACCCTCAGAACCTGGGTCTTTTACCTAACTA
TGGGGGCTACGTGCCAGGGTATAAGTTCCAGTTTGGCCACACATTTGGCCATCTCACCCATGAT
GCTCTGGGCCTCAGCACCTTCCAGAAGCAGCTCTTGGCTTAGGCCACTGGACATCAAGTTCCCT
TCCCTTTTCATCCTATCCCAGCCATCCTTTTGGAAGGGAGAGAGGTGGGTGGGAGGGTGGGAGG
GTGGGGGAACACAAAGAGAAAATGGTTTGGAGGCTGAGCACCTTTTTTATTAATAGGTATAATA
AATAAATAAATAAATACATAAACAGA

hide sequence

RefSeq Acc Id:

NM_001164310 ⟹ NP_001157782

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,561,831 - 35,563,878 (-)	NCBI
GRCh37	9	35,561,827 - 35,563,896 (-)	ENTREZGENE
HuRef	9	35,517,450 - 35,519,507 (-)	ENTREZGENE
CHM1_1	9	35,561,615 - 35,563,684 (-)	NCBI
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	NCBI

Sequence:

show sequence

AGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGGCTCCCCATGGCTGTGGCCAG
CACCTTCATACCAGGGCTCAACCCTCAGAACCCTCATTATATCCCAGGGTACACTGGACACTGC
CCACTACTTCGGTTCAGCGTGGGCCAGACCTATGGGCAGGTGACTGGTCAGCTACTTCGAGGCC
CTCCTGGCCTAGCCTGGCCCCCTGTCCACCGCACACTTCTGCCTCCCATTCGGCCTCCAAGATC
TCCTGAGGTTCCCAGGGAGAGTCTACCTGTCAGGCGTGGGCAAGAAAGGCTCAGCTCCAGCATG
ATCCCTGGGTACACAGGTTTTGTACCCCGGGCACAGTTCATCTTTGCCAAGAACTGCAGCCAGG
TCTGGGCCGAGGCTCTGAGTGACTTTACTCACTTGCATGAAAAGCAAGGGAGTGAAGAGCTACC
AAAGGAGGCCAAGGGAAGAAAGGACACAGAGAAGGACCAGGTGCCAGAGCCGGAGGGGCAGCTG
GAGGAGCCGACACTGGAGGTGGTGGAACAAGCTTCTCCCTACTCCATGGATGACAGGGACCCTC
GGAAGTTCTTCATGTCAGGCTTCACTGGCTATGTGCCCTGCGCCCGCTTCCTCTTCGGCTCCAG
CTTTCCTGTGCTCACCAACCAGGCACTGCAGGAATTTGGGCAGAAGCACTCACCAGGCAGTGCC
CAGGACCCCAAACATCTCCCCCCACTTCCCAGAACATACCCTCAGAACCTGGGTCTTTTACCTA
ACTATGGGGGCTACGTGCCAGGGTATAAGTTCCAGTTTGGCCACACATTTGGCCATCTCACCCA
TGATGCTCTGGGCCTCAGCACCTTCCAGAAGCAGCTCTTGGCTTAGGCCACTGGACATCAAGTT
CCCTTCCCTTTTCATCCTATCCCAGCCATCCTTTTGGAAGGGAGAGAGGTGGGTGGGAGGGTGG
GAGGGTGGGGGAACACAAAGAGAAAATGGTTTGGAGGCTGAGCACCTTTTTTATTAATAGGTAT
AATAAATAAATAAATAAATACATAAACAGA

hide sequence

RefSeq Acc Id:

NM_001287238 ⟹ NP_001274167

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,561,831 - 35,563,878 (-)	NCBI
HuRef	9	35,517,450 - 35,519,507 (-)	NCBI
CHM1_1	9	35,561,615 - 35,563,684 (-)	NCBI
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	NCBI

Sequence:

show sequence

AGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGGCTCCCCATGGCTGTGGCCAG
CACCTTCATACCAGGGCTCAACCCTCAGAACCCTCATTATATCCCAGGGTACACTGGACACTGC
CCACTACTTCGGTTCAGCGTGGGCCAGACCTATGGGCAGGTGACTGGTCAGCTACTTCGAGGCC
CTCCTGGCCTAGCCTGGCCCCCTGTCCACCGCACACTTCTGCCTCCCATTCGGCCTCCAAGATC
TCCTGAGGTTCCCAGGGAGAGTCTACCTGTCAGGCGTGGGCAAGAAAGGCTCAGCTCCAGCATG
ATCCCTGGGTACACAGGTTTTGTACCCCGGGCACAGTTCATCTTTGCCAAGAACTGCAGCCAGG
TCTGGGCCGAGGCTCTGAGTGACTTTACTCACTTGCATGAAAAGCAAGGGAGTGAAGAGCTACC
AAAGGAGGCCAAGGGAAGAAAGGACACAGAGAAGGACCAGGTGCCAGAGCCGGAGGGGCAGCTG
GAGGAGCCGACACTGGAGGTGGTGGAACAAGTGAGACCAAGAAGCTGGTGGGGAGTGCAGAGGC
TTCTCCCTACTCCATGGATGACAGGGACCCTCGGAAGTTCTTCATGTCAGGCACTGCAGGAATT
TGGGCAGAAGCACTCACCAGGCAGTGCCCAGGACCCCAAACATCTCCCCCCACTTCCCAGAACA
TACCCTCAGAACCTGGGTCTTTTACCTAACTATGGGGGCTACGTGCCAGGGTATAAGTTCCAGT
TTGGCCACACATTTGGCCATCTCACCCATGATGCTCTGGGCCTCAGCACCTTCCAGAAGCAGCT
CTTGGCTTAGGCCACTGGACATCAAGTTCCCTTCCCTTTTCATCCTATCCCAGCCATCCTTTTG
GAAGGGAGAGAGGTGGGTGGGAGGGTGGGAGGGTGGGGGAACACAAAGAGAAAATGGTTTGGAG
GCTGAGCACCTTTTTTATTAATAGGTATAATAAATAAATAAATAAATACATAAACAGA

hide sequence

RefSeq Acc Id:

NM_001287239 ⟹ NP_001274168

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,561,831 - 35,563,878 (-)	NCBI
HuRef	9	35,517,450 - 35,519,507 (-)	NCBI
CHM1_1	9	35,561,615 - 35,563,684 (-)	NCBI
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	NCBI

Sequence:

show sequence

AGACCAGAGCCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGGCTCCCCATGGCTGTGGCCAG
CACCTTCATACCAGGGCTCAACCCTCAGAACCCTCATTATATCCCAGGGTACACTGGACACTGC
CCACTACTTCGGTTCAGCGTGGGCCAGACCTATGGGCAGGTGACTGGTCAGCTACTTCGAGGCC
CTCCTGGCCTAGCCTGGCCCCCTGTCCACCGCACACTTCTGCCTCCCATTCGGCCTCCAAGATC
TCCTGAGGTTCCCAGGGAGAGTCTACCTGTCAGGCGTGGGCAAGAAAGGCTCAGCTCCAGCATG
ATCCCTGGGTACACAGGTTTTGTACCCCGGGCACAGTTCATCTTTGCCAAGAACTGCAGCCAGG
TCTGGGCCGAGGCTCTGAGTGACTTTACTCACTTGCATGAAAAGCAAGGGAGTGAAGAGCTACC
AAAGGAGGCCAAGGGAAGAAAGGACACAGAGAAGGACCAGGTGCCAGAGCCGGAGGGGCAGCTG
GAGGAGCCGACACTGGAGGTGGTGGAACAAGCTTCTCCCTACTCCATGGATGACAGGGACCCTC
GGAAGTTCTTCATGTCAGCTTTCCTGTGCTCACCAACCAGGCACTGCAGGAATTTGGGCAGAAG
CACTCACCAGGCAGTGCCCAGGACCCCAAACATCTCCCCCCACTTCCCAGAACATACCCTCAGA
ACCTGGGTCTTTTACCTAACTATGGGGGCTACGTGCCAGGGTATAAGTTCCAGTTTGGCCACAC
ATTTGGCCATCTCACCCATGATGCTCTGGGCCTCAGCACCTTCCAGAAGCAGCTCTTGGCTTAG
GCCACTGGACATCAAGTTCCCTTCCCTTTTCATCCTATCCCAGCCATCCTTTTGGAAGGGAGAG
AGGTGGGTGGGAGGGTGGGAGGGTGGGGGAACACAAAGAGAAAATGGTTTGGAGGCTGAGCACC
TTTTTTATTAATAGGTATAATAAATAAATAAATAAATACATAAACAGA

hide sequence

RefSeq Acc Id:

XM_011518028 ⟹ XP_011516330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,561,831 - 35,563,878 (-)	NCBI

Sequence:

show sequence

CCTTGGCTCAAAGGCAAACAAAAGGAAATGCCCGGCTCCCCATGGCTGTGGCCAGCACCTTCAT
ACCAGGGCTCAACCCTCAGAACCCTCATTATATCCCAGGGGTAACAGCAGAGGAAGGATCGAAA
GCCCAGGCAGAGAACTTAGAAATGCCTGCTCCAAATATATACACTGCTGAGTCCAGAAAGATCA
GGGCTTCAGAGGTCTCCGCTTCTGCCTCTGGGGATGGCGGGGCAGGGCGATTCTGGTGAGTGGG
AGAGTCTGTGCTGCAGGTACACTGGACACTGCCCACTACTTCGGTTCAGCGTGGGCCAGACCTA
TGGGCAGGTGACTGGTCAGCTACTTCGAGGCCCTCCTGGCCTAGCCTGGCCCCCTGTCCACCGC
ACACTTCTGCCTCCCATTCGGCCTCCAAGATCTCCTGAGGTTCCCAGGGAGAGTCTACCTGTCA
GGCGTGGGCAAGAAAGGCTCAGCTCCAGCATGATCCCTGGGTACACAGGTTTTGTACCCCGGGC
ACAGTTCATCTTTGCCAAGAACTGCAGCCAGGTCTGGGCCGAGGCTCTGAGTGACTTTACTCAC
TTGCATGAAAAGCAAGGGAGTGAAGAGCTACCAAAGGAGGCCAAGGGAAGAAAGGACACAGAGA
AGGACCAGGTGCCAGAGCCGGAGGGGCAGCTGGAGGAGCCGACACTGGAGGTGGTGGAACAAGC
TTCTCCCTACTCCATGGATGACAGGGACCCTCGGAAGTTCTTCATGTCAGCTTTCCTGTGCTCA
CCAACCAGGCACTGCAGGAATTTGGGCAGAAGCACTCACCAGGCAGTGCCCAGGACCCCAAACA
TCTCCCCCCACTTCCCAGAACATACCCTCAGAACCTGGGTCTTTTACCTAACTATGGGGGCTAC
GTGCCAGGGTATAAGTTCCAGTTTGGCCACACATTTGGCCATCTCACCCATGATGCTCTGGGCC
TCAGCACCTTCCAGAAGCAGCTCTTGGCTTAGGCCACTGGACATCAAGTTCCCTTCCCTTTTCA
TCCTATCCCAGCCATCCTTTTGGAAGGGAGAGAGGTGGGTGGGAGGGTGGGAGGGTGGGGGAAC
ACAAAGAGAAAATGGTTTGGAGGCTGAGCACCTTTTTTATTAATAGGTATAATAAATAAATAAA
TAAATACATAAACAGAC

hide sequence

RefSeq Acc Id:

XM_054363742 ⟹ XP_054219717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	35,582,504 - 35,584,551 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001093421	(Get FASTA)	NCBI Sequence Viewer
	NP_001157782	(Get FASTA)	NCBI Sequence Viewer
	NP_001274167	(Get FASTA)	NCBI Sequence Viewer
	NP_001274168	(Get FASTA)	NCBI Sequence Viewer
	XP_011516330	(Get FASTA)	NCBI Sequence Viewer
	XP_054219717	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A8MTA8	(Get FASTA)	NCBI Sequence Viewer
	AAI30000	(Get FASTA)	NCBI Sequence Viewer
	AAI46929	(Get FASTA)	NCBI Sequence Viewer
	AAI46934	(Get FASTA)	NCBI Sequence Viewer
	AAI71840	(Get FASTA)	NCBI Sequence Viewer
	AAI71851	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000382646
	ENSP00000382646.2
	ENSP00000412746
	ENSP00000412746.1
	ENSP00000513459
	ENSP00000513459.1

RefSeq Acc Id:	NP_001093421 ⟸ NM_001099951
- Peptide Label:	isoform 2
- UniProtKB:	A8MTA8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPI RPPRSPEVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQG SEELPKEAKGRKDTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFMSGTAGIWAEALT RQCPGPQTSPPTSQNIPSEPGSFT hide sequence

RefSeq Acc Id:	NP_001157782 ⟸ NM_001164310
- Peptide Label:	isoform 1
- UniProtKB:	A1L3B2 (UniProtKB/Swiss-Prot), B7ZBJ0 (UniProtKB/Swiss-Prot), A8MTA8 (UniProtKB/Swiss-Prot), B7ZW26 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPI RPPRSPEVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQG SEELPKEAKGRKDTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFMSGFTGYVPCARF LFGSSFPVLTNQALQEFGQKHSPGSAQDPKHLPPLPRTYPQNLGLLPNYGGYVPGYKFQFGHTF GHLTHDALGLSTFQKQLLA hide sequence

RefSeq Acc Id:	NP_001274168 ⟸ NM_001287239
- Peptide Label:	isoform 4
- UniProtKB:	A0A8V8TLC2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPI RPPRSPEVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQG SEELPKEAKGRKDTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFMSAFLCSPTRHCR NLGRSTHQAVPRTPNISPHFPEHTLRTWVFYLTMGATCQGISSSLATHLAISPMMLWASAPSRS SSWLRPLDIKFPSLFILSQPSFWKGERWVGGWEGGGTQRENGLEAEHLFY hide sequence

RefSeq Acc Id:	NP_001274167 ⟸ NM_001287238
- Peptide Label:	isoform 3
- UniProtKB:	B7ZW26 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPI RPPRSPEVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQG SEELPKEAKGRKDTEKDQVPEPEGQLEEPTLEVVEQVRPRSWWGVQRLLPTPWMTGTLGSSSCQ ALQEFGQKHSPGSAQDPKHLPPLPRTYPQNLGLLPNYGGYVPGYKFQFGHTFGHLTHDALGLST FQKQLLA hide sequence

RefSeq Acc Id:	XP_011516330 ⟸ XM_011518028
- Peptide Label:	isoform X1
- UniProtKB:	A0A8V8TLC2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAGQGDSGEWESLCCRYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIRPPRS PEVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQGSEELP KEAKGRKDTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFMSAFLCSPTRHCRNLGRS THQAVPRTPNISPHFPEHTLRTWVFYLTMGATCQGISSSLATHLAISPMMLWASAPSRSSSWLR PLDIKFPSLFILSQPSFWKGERWVGGWEGGGTQRENGLEAEHLFY hide sequence

RefSeq Acc Id:

ENSP00000382646 ⟸ ENST00000399742

RefSeq Acc Id:

ENSP00000412746 ⟸ ENST00000447837

RefSeq Acc Id:

ENSP00000480923 ⟸ ENST00000619051

RefSeq Acc Id:	XP_054219717 ⟸ XM_054363742
- Peptide Label:	isoform X1
- UniProtKB:	A0A8V8TLC2 (UniProtKB/TrEMBL)

Protein Domains

Ciliary microtubule inner protein 2A-C-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A8MTA8-F1-model_v2	AlphaFold	A8MTA8	1-275	view protein structure

Promoters

RGD ID:

6816600

Promoter ID:

HG_SPT:61813

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

AA441812, AA576476, AI016405, AI292343, AI383111, AI393723, AI423515, AI932283, CA315062, CA449961, CB241755

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	35,551,151 - 35,551,651 (+)	MPROMDB

RGD ID:

7214999

Promoter ID:

EPDNEW_H13245

Type:

initiation region

Name:

FAM166B_2

Description:

family with sequence similarity 166 member B

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H13246

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	35,563,878 - 35,563,938	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:34242	AgrOrtholog
COSMIC	CIMIP2B	COSMIC
Ensembl Genes	ENSG00000215187	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000399742	ENTREZGENE
	ENST00000399742.7	UniProtKB/Swiss-Prot
	ENST00000447837	ENTREZGENE
	ENST00000447837.1	UniProtKB/Swiss-Prot
	ENST00000492890	ENTREZGENE
	ENST00000492890.5	UniProtKB/TrEMBL
GTEx	ENSG00000215187	GTEx
HGNC ID	HGNC:34242	ENTREZGENE
Human Proteome Map	CIMIP2B	Human Proteome Map
InterPro	FAM166/UPF0605	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
KEGG Report	hsa:730112	UniProtKB/Swiss-Prot
NCBI Gene	730112	ENTREZGENE
PANTHER	CAT EYE SYNDROME CRITICAL REGION PROTEIN 6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN FAM166B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF2475	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162387040	PharmGKB
UniProt	A0A8V8TLC2	ENTREZGENE, UniProtKB/TrEMBL
	A1L3B2	ENTREZGENE
	A8MTA8	ENTREZGENE
	B7ZBJ0	ENTREZGENE
	B7ZW26	ENTREZGENE, UniProtKB/TrEMBL
	B7ZW33_HUMAN	UniProtKB/TrEMBL
	F166B_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A1L3B2	UniProtKB/Swiss-Prot
	B7ZBJ0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-05-01	CIMIP2B	ciliary microtubule inner protein 2B	FAM166B	family with sequence similarity 166 member B	Symbol and/or name change	19259463	PROVISIONAL
2015-11-24	FAM166B	family with sequence similarity 166 member B		family with sequence similarity 166, member B	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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