ACTL7B (actin like 7B) - Rat Genome Database

Name: ACTL7B
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: ACTL7B (actin like 7B) Homo sapiens

Analyze

Symbol:

ACTL7B

Name:

actin like 7B

RGD ID:

1313810

HGNC Page

HGNC:162

Description:

Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in cytoskeleton organization. Predicted to be located in actin cytoskeleton. Predicted to be active in cytoplasm and nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

actin-like 7-beta; actin-like 7B; actin-like protein 7B; actin-like-7-beta; Tact1; testis tissue sperm-binding protein Li 43a

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Actl7b (actin-like 7b)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Actl7b (actin-like 7b)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Actl7b (actin like 7B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ACTL7B (actin like 7B)	NCBI	Ortholog
Canis lupus familiaris (dog):	ACTL7B (actin like 7B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Actl7b (actin like 7B)	NCBI	Ortholog
Sus scrofa (pig):	ACTL7B (actin like 7B)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ACTL7B (actin like 7B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Actl7b (actin like 7B)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Actl7b (actin-like 7b)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Actl7b (actin-like 7b)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Arp53D	Alliance	DIOPT (Ensembl Compara\|PANTHER)

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	108,854,588 - 108,855,986 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	108,854,588 - 108,855,986 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	111,616,868 - 111,618,266 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	110,656,692 - 110,658,031 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	108,696,425 - 108,697,765	NCBI
Celera	9	82,116,170 - 82,117,577 (-)	NCBI		Celera
Cytogenetic Map	9	q31.3	NCBI
HuRef	9	81,216,627 - 81,218,034 (-)	NCBI		HuRef
CHM1_1	9	111,763,491 - 111,764,898 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	121,023,716 - 121,025,114 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

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

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

3,3',4,4',5-pentachlorobiphenyl (EXP)

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bromobenzene (ISO)

C60 fullerene (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

decabromodiphenyl ether (ISO)

furan (ISO)

ozone (ISO)

perfluorooctanoic acid (EXP)

permethrin (EXP)

pirinixic acid (ISO)

trichloroethene (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cytoskeleton organization (IEA)

Cellular Component

actin cytoskeleton (TAS)

cytoplasm (IBA,IEA)

cytoskeleton (IEA)

nucleus (IBA,IEA)

Molecular Function

protein binding (IPI)

structural constituent of cytoskeleton (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10373328	PMID:10611965	PMID:12477932	PMID:12907721	PMID:14702039	PMID:15164053	PMID:15489334	PMID:16344560	PMID:21832049	PMID:21873635	PMID:23776197	PMID:25293881
PMID:32814053	PMID:34299191

Genomics

Comparative Map Data

ACTL7B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	108,854,588 - 108,855,986 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	108,854,588 - 108,855,986 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	111,616,868 - 111,618,266 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	110,656,692 - 110,658,031 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	108,696,425 - 108,697,765	NCBI
Celera	9	82,116,170 - 82,117,577 (-)	NCBI		Celera
Cytogenetic Map	9	q31.3	NCBI
HuRef	9	81,216,627 - 81,218,034 (-)	NCBI		HuRef
CHM1_1	9	111,763,491 - 111,764,898 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	121,023,716 - 121,025,114 (-)	NCBI		T2T-CHM13v2.0

Actl7b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	56,740,005 - 56,741,425 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	56,740,005 - 56,741,443 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	56,740,005 - 56,741,425 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	56,740,005 - 56,741,443 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	56,752,877 - 56,754,297 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	56,834,059 - 56,835,450 (-)	NCBI		MGSCv36	mm8
Celera	4	56,647,895 - 56,649,315 (-)	NCBI		Celera
Cytogenetic Map	4	B3	NCBI
cM Map	4	31.66	NCBI

Actl7b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	76,240,739 - 76,242,127 (-)	NCBI		GRCr8
mRatBN7.2	5	71,445,532 - 71,446,920 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	71,445,534 - 71,446,920 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	73,332,988 - 73,334,376 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	75,164,426 - 75,165,814 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	75,136,502 - 75,137,890 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	73,492,642 - 73,494,030 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	73,492,644 - 73,494,030 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	77,650,551 - 77,651,939 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	74,646,523 - 74,647,911 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	74,651,637 - 74,653,024 (-)	NCBI
Celera	5	70,299,589 - 70,300,977 (-)	NCBI		Celera
Cytogenetic Map	5	q24	NCBI

Actl7b
(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_004955419	18,106,626 - 18,107,876 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955419	18,106,542 - 18,107,955 (+)	NCBI	ChiLan1.0	ChiLan1.0

ACTL7B
(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	30,550,179 - 30,553,575 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	30,552,543 - 30,555,943 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	80,007,235 - 80,009,673 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	108,180,430 - 108,182,804 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	108,180,528 - 108,181,775 (-)	Ensembl	panpan1.1		panPan2

ACTL7B
(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	64,028,080 - 64,029,464 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	64,028,093 - 64,029,457 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	62,430,312 - 62,431,656 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	65,162,204 - 65,163,548 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	65,162,216 - 65,163,454 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	63,683,398 - 63,684,742 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	63,702,204 - 63,703,464 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	64,395,161 - 64,396,509 (-)	NCBI		UU_Cfam_GSD_1.0

Actl7b
(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	179,275,659 - 179,277,130 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936559	3,989,605 - 3,990,861 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936559	3,989,564 - 3,990,862 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACTL7B
(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	249,876,927 - 249,878,180 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	249,876,832 - 249,879,109 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	280,407,269 - 280,408,729 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ACTL7B
(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	30,697,981 - 30,700,364 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	30,699,019 - 30,700,266 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666035	11,983,712 - 11,986,192 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Actl7b
(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_004624758	2,653,550 - 2,654,809 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624758	2,651,925 - 2,654,894 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ACTL7B
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	copy number loss	See cases [RCV000050315]	Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1	pathogenic
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 9q22.33-33.1(chr9:99349916-115767475)x1	copy number loss	See cases [RCV000052921]	Chr9:99349916..115767475 [GRCh38] Chr9:102112198..118529754 [GRCh37] Chr9:101152019..117569575 [NCBI36] Chr9:9q22.33-33.1	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-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 9q22.1-32(chr9:88522292-113687796)x3	copy number gain	See cases [RCV000053752]	Chr9:88522292..113687796 [GRCh38] Chr9:91137207..116450076 [GRCh37] Chr9:90327027..115489897 [NCBI36] Chr9:9q22.1-32	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 9q31.1-32(chr9:103767420-112984794)x1	copy number loss	See cases [RCV000134976]	Chr9:103767420..112984794 [GRCh38] Chr9:106529701..115747074 [GRCh37] Chr9:105569522..114786895 [NCBI36] Chr9:9q31.1-32	pathogenic
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 9q22.33-31.3(chr9:99024205-109947890)x1	copy number loss	See cases [RCV000138281]	Chr9:99024205..109947890 [GRCh38] Chr9:101786487..112710170 [GRCh37] Chr9:100826308..111749991 [NCBI36] Chr9:9q22.33-31.3	pathogenic\|likely 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
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 9q21.12-31.3(chr9:69627642-111454304)x3	copy number gain	See cases [RCV000139789]	Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3	pathogenic
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	copy number loss	See cases [RCV000140794]	Chr9:107530314..117965944 [GRCh38] Chr9:110292595..120728222 [GRCh37] Chr9:109332416..119768043 [NCBI36] Chr9:9q31.2-33.1	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 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 9q22.33-33.1(chr9:99138048-115011033)x1	copy number loss	See cases [RCV000148264]	Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1	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
GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3	copy number gain	See cases [RCV000449057]	Chr9:111529810..113539990 [GRCh37] Chr9:9q31.3	likely 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 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 9q31.3-33.1(chr9:111348809-118687200)x1	copy number loss	See cases [RCV000449308]	Chr9:111348809..118687200 [GRCh37] Chr9:9q31.3-33.1	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 9q31.1-33.3(chr9:104604851-126253089)x1	copy number loss	See cases [RCV000447763]	Chr9:104604851..126253089 [GRCh37] Chr9:9q31.1-33.3	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 9q31.1-31.3(chr9:103271401-113948226)x1	copy number loss	See cases [RCV000447957]	Chr9:103271401..113948226 [GRCh37] Chr9:9q31.1-31.3	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
NM_006686.4(ACTL7B):c.364G>A (p.Asp122Asn)	single nucleotide variant	Inborn genetic diseases [RCV003302320]	Chr9:108855567 [GRCh38] Chr9:111617847 [GRCh37] Chr9:9q31.3	uncertain significance
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 9q31.1-31.3(chr9:106487247-114541579)x1	copy number loss	not provided [RCV000683163]	Chr9:106487247..114541579 [GRCh37] Chr9:9q31.1-31.3	pathogenic
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	copy number gain	not provided [RCV000683161]	Chr9:108664157..115356416 [GRCh37] Chr9:9q31.2-32	likely 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
NM_006686.4(ACTL7B):c.789C>A (p.Ala263=)	single nucleotide variant	not provided [RCV000971049]	Chr9:108855142 [GRCh38] Chr9:111617422 [GRCh37] Chr9:9q31.3	benign
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 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
NM_006686.4(ACTL7B):c.107C>G (p.Ala36Gly)	single nucleotide variant	Inborn genetic diseases [RCV003272805]	Chr9:108855824 [GRCh38] Chr9:111618104 [GRCh37] Chr9:9q31.3	uncertain significance
GRCh37/hg19 9q31.2-31.3(chr9:110273670-111717897)x3	copy number gain	not provided [RCV001259040]	Chr9:110273670..111717897 [GRCh37] Chr9:9q31.2-31.3	uncertain significance
NM_006686.4(ACTL7B):c.844G>A (p.Glu282Lys)	single nucleotide variant	Inborn genetic diseases [RCV003252344]	Chr9:108855087 [GRCh38] Chr9:111617367 [GRCh37] Chr9:9q31.3	uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	copy number loss	not specified [RCV002052825]	Chr9:104604851..126253089 [GRCh37] Chr9:9q31.1-33.3	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 9q31.3(chr9:111560213-111984713)	copy number gain	not specified [RCV002052829]	Chr9:111560213..111984713 [GRCh37] Chr9:9q31.3	uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	copy number gain	not specified [RCV002053853]	Chr9:71349994..122603410 [GRCh37] Chr9:9q21.11-33.2	likely pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	copy number loss	not specified [RCV002052828]	Chr9:109265628..117650999 [GRCh37] Chr9:9q31.2-32	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_006686.4(ACTL7B):c.532G>A (p.Val178Met)	single nucleotide variant	Inborn genetic diseases [RCV002734331]	Chr9:108855399 [GRCh38] Chr9:111617679 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.118A>G (p.Lys40Glu)	single nucleotide variant	Inborn genetic diseases [RCV002757071]	Chr9:108855813 [GRCh38] Chr9:111618093 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.866T>C (p.Ile289Thr)	single nucleotide variant	Inborn genetic diseases [RCV002951839]	Chr9:108855065 [GRCh38] Chr9:111617345 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.435C>G (p.His145Gln)	single nucleotide variant	Inborn genetic diseases [RCV002759905]	Chr9:108855496 [GRCh38] Chr9:111617776 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.1060C>T (p.Arg354Cys)	single nucleotide variant	Inborn genetic diseases [RCV002889016]	Chr9:108854871 [GRCh38] Chr9:111617151 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.424C>G (p.Pro142Ala)	single nucleotide variant	Inborn genetic diseases [RCV002757902]	Chr9:108855507 [GRCh38] Chr9:111617787 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.421C>G (p.Leu141Val)	single nucleotide variant	Inborn genetic diseases [RCV002665091]	Chr9:108855510 [GRCh38] Chr9:111617790 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.923C>T (p.Ala308Val)	single nucleotide variant	Inborn genetic diseases [RCV002645504]	Chr9:108855008 [GRCh38] Chr9:111617288 [GRCh37] Chr9:9q31.3	likely benign
NM_006686.4(ACTL7B):c.821C>T (p.Pro274Leu)	single nucleotide variant	Inborn genetic diseases [RCV002719058]	Chr9:108855110 [GRCh38] Chr9:111617390 [GRCh37] Chr9:9q31.3	likely benign
NM_006686.4(ACTL7B):c.629C>T (p.Ser210Phe)	single nucleotide variant	Inborn genetic diseases [RCV002878231]	Chr9:108855302 [GRCh38] Chr9:111617582 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.632A>G (p.Glu211Gly)	single nucleotide variant	Inborn genetic diseases [RCV002854990]	Chr9:108855299 [GRCh38] Chr9:111617579 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.442C>A (p.Leu148Met)	single nucleotide variant	Inborn genetic diseases [RCV002718678]	Chr9:108855489 [GRCh38] Chr9:111617769 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.131G>T (p.Arg44Met)	single nucleotide variant	Inborn genetic diseases [RCV002719644]	Chr9:108855800 [GRCh38] Chr9:111618080 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.155T>C (p.Val52Ala)	single nucleotide variant	Inborn genetic diseases [RCV003217551]	Chr9:108855776 [GRCh38] Chr9:111618056 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.782A>T (p.Tyr261Phe)	single nucleotide variant	Inborn genetic diseases [RCV003200907]	Chr9:108855149 [GRCh38] Chr9:111617429 [GRCh37] Chr9:9q31.3	uncertain significance
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	copy number loss	Weiss-kruszka syndrome [RCV003327720]	Chr9:102995214..108903040 [GRCh38] Chr9:9q31.1-31.3	pathogenic
NM_006686.4(ACTL7B):c.490G>A (p.Ala164Thr)	single nucleotide variant	Inborn genetic diseases [RCV003357872]	Chr9:108855441 [GRCh38] Chr9:111617721 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.871A>G (p.Ile291Val)	single nucleotide variant	Inborn genetic diseases [RCV003374072]	Chr9:108855060 [GRCh38] Chr9:111617340 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.227C>T (p.Ser76Phe)	single nucleotide variant	Inborn genetic diseases [RCV003385938]	Chr9:108855704 [GRCh38] Chr9:111617984 [GRCh37] Chr9:9q31.3	uncertain significance
NM_006686.4(ACTL7B):c.1037C>G (p.Thr346Ser)	single nucleotide variant	not provided [RCV003457170]	Chr9:108854894 [GRCh38] Chr9:111617174 [GRCh37] Chr9:9q31.3	benign
GRCh37/hg19 9q31.3(chr9:111524654-111644689)x1	copy number loss	not provided [RCV003483075]	Chr9:111524654..111644689 [GRCh37] Chr9:9q31.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	176
Count of miRNA genes:	171
Interacting mature miRNAs:	176
Transcripts:	ENST00000374667
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

AB070173

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	111,616,992 - 111,617,101	UniSTS	GRCh37
Build 36	9	110,656,813 - 110,656,922	RGD	NCBI36
Celera	9	82,116,294 - 82,116,403	RGD
HuRef	9	81,216,751 - 81,216,860	UniSTS

ACTL7B__4247

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	111,616,878 - 111,617,661	UniSTS	GRCh37
Build 36	9	110,656,699 - 110,657,482	RGD	NCBI36
Celera	9	82,116,180 - 82,116,963	RGD
HuRef	9	81,216,637 - 81,217,420	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

High

Medium

367

Low

Below cutoff

1241

1313

1078

270

718

172

2147

907

1972

560

817

100

679

1335

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_006686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB284521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF113527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI150021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097670	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB021848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF583871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000374667 ⟹ ENSP00000363799

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	108,854,588 - 108,855,986 (-)	Ensembl

RefSeq Acc Id:

NM_006686 ⟹ NP_006677

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	108,854,588 - 108,855,986 (-)	NCBI
GRCh37	9	111,616,868 - 111,618,275 (-)	RGD
Build 36	9	110,656,692 - 110,658,031 (-)	NCBI Archive
Celera	9	82,116,170 - 82,117,577 (-)	RGD
HuRef	9	81,216,627 - 81,218,034 (-)	ENTREZGENE
CHM1_1	9	111,763,491 - 111,764,898 (-)	NCBI
T2T-CHM13v2.0	9	121,023,716 - 121,025,114 (-)	NCBI

Sequence:

show sequence

ATTTCTCCCCAGGGGGCTCTAGGCTGTGGATGTGAGAAGGGGAGCAAGGGAGGCAGATGGCGAC
AAGGAACAGCCCCATGCCCCTGGGCACGGCTCAGGGTGACCCTGGAGAGGCAGGAACACGGCCC
GGCCCTGACGCCAGCCTCCGGGACACAGGTGCGGCCACTCAGCTCAAGATGAAGCCCAGGAAGG
TGCACAAGATCAAGGCGGTCATCATCGACCTGGGCTCCCAGTACTGCAAGTGCGGCTACGCGGG
AGAGCCGAGGCCCACCTACTTCATCTCCTCCACCGTGGGCAAACGCTGCCCCGAGGCGGCCGAC
GCTGGCGACACCCGCAAGTGGACTTTAGTGGGCCATGAGCTGCTCAACACGGAGGCGCCTCTCA
AGCTGGTGAACCCGCTGAAGCACGGCATCGTGGTGGACTGGGACTGCGTGCAGGACATCTGGGA
GTACATCTTCCGCACCGCCATGAAGATCCTCCCCGAGGAGCACGCTGTGCTGGTCTCCGACCCT
CCGCTCAGCCCCAGCAGCAACCGGGAGAAGTACGCGGAGCTCATGTTTGAGACCTTCGGCATCC
CAGCCATGCACGTGACGTCCCAGTCGTTGCTGTCCATCTACTCCTACGGCAAGACCTCGGGGCT
GGTGGTGGAGAGCGGGCACGGCGTCTCGCACGTGGTGCCCATATCCGAGGGCGACGTGCTGCCG
GGCCTGACCAGCCGCGCCGACTACGCTGGGGGTGACCTCACCAACTACCTGATGCAGCTGCTCA
ATGAGGCGGGCCACGCATTCACGGACGACCACCTGCACATCATAGAGCACATCAAGAAGAAGTG
CTGCTATGCGGCCTTCCTGCCCGAGGAGGAGCTGGGCCTGGTCCCGGAGGAGCTGCGCGTGGAC
TACGAGCTCCCGGACGGCAAACTCATCACTATTGGCCAGGAGCGCTTCCGTTGCTCTGAGATGC
TCTTCCAGCCCTCCCTGGCAGGCAGCACCCAGCCGGGCCTCCCGGAGCTCACAGCTGCCTGCCT
GGGCCGCTGCCAGGACACGGGCTTCAAGGAGGAGATGGCCGCCAACGTGCTACTGTGTGGCGGC
TGCACTATGCTGGATGGCTTCCCCGAGCGCTTCCAGAGGGAGCTGAGCCTCCTCTGCCCCGGGG
ACAGCCCTGCAGTGGCTGCCGCTCCTGAGAGGAAGACCTCCGTGTGGACCGGCGGTTCCATCCT
GGCCTCCCTGCAGGCCTTCCAACAGCTCTGGGTCAGCAAGGAAGAGTTTGAGGAGCGGGGCAGC
GTGGCCATCTACAGCAAGTGCTGAGCCTCGGCATTTCCACAGACAAGGCCTCCAGCACAGATGG
CCACAGGCCTCTCTATACACATTTACAGAATTTCACATAAAGGTTTACTCTGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_006677	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD44110	(Get FASTA)	NCBI Sequence Viewer
	AAH33789	(Get FASTA)	NCBI Sequence Viewer
	AEE61263	(Get FASTA)	NCBI Sequence Viewer
	BAF41972	(Get FASTA)	NCBI Sequence Viewer
	BAG36599	(Get FASTA)	NCBI Sequence Viewer
	BAG53508	(Get FASTA)	NCBI Sequence Viewer
	CBH19187	(Get FASTA)	NCBI Sequence Viewer
	CBH30578	(Get FASTA)	NCBI Sequence Viewer
	CCQ43368	(Get FASTA)	NCBI Sequence Viewer
	EAW59025	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000363799
	ENSP00000363799.3
GenBank Protein	Q9Y614	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_006677 ⟸ NM_006686

- UniProtKB:

B2R9Q2 (UniProtKB/Swiss-Prot), Q5JSV1 (UniProtKB/Swiss-Prot), Q9Y614 (UniProtKB/Swiss-Prot), A0A140VKC6 (UniProtKB/TrEMBL), B3KUP6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MATRNSPMPLGTAQGDPGEAGTRPGPDASLRDTGAATQLKMKPRKVHKIKAVIIDLGSQYCKCG
YAGEPRPTYFISSTVGKRCPEAADAGDTRKWTLVGHELLNTEAPLKLVNPLKHGIVVDWDCVQD
IWEYIFRTAMKILPEEHAVLVSDPPLSPSSNREKYAELMFETFGIPAMHVTSQSLLSIYSYGKT
SGLVVESGHGVSHVVPISEGDVLPGLTSRADYAGGDLTNYLMQLLNEAGHAFTDDHLHIIEHIK
KKCCYAAFLPEEELGLVPEELRVDYELPDGKLITIGQERFRCSEMLFQPSLAGSTQPGLPELTA
ACLGRCQDTGFKEEMAANVLLCGGCTMLDGFPERFQRELSLLCPGDSPAVAAAPERKTSVWTGG
SILASLQAFQQLWVSKEEFEERGSVAIYSKC

hide sequence

RefSeq Acc Id:

ENSP00000363799 ⟸ ENST00000374667

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y614-F1-model_v2	AlphaFold	Q9Y614	1-415	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:162	AgrOrtholog
COSMIC	ACTL7B	COSMIC
Ensembl Genes	ENSG00000148156	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000374667	ENTREZGENE
	ENST00000374667.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.420.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000148156	GTEx
HGNC ID	HGNC:162	ENTREZGENE
Human Proteome Map	ACTL7B	Human Proteome Map
InterPro	Actin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ATPase_NBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10880	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	10880	ENTREZGENE
OMIM	604304	OMIM
PANTHER	PTHR11937	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11937:SF59	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Actin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24484	PharmGKB
PRINTS	ACTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ACTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF53067	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A140VKC6	ENTREZGENE, UniProtKB/TrEMBL
	ACL7B_HUMAN	UniProtKB/Swiss-Prot
	B2R9Q2	ENTREZGENE
	B3KUP6	ENTREZGENE, UniProtKB/TrEMBL
	L8EAJ2_HUMAN	UniProtKB/TrEMBL
	Q5JSV1	ENTREZGENE
	Q9Y614	ENTREZGENE
UniProt Secondary	B2R9Q2	UniProtKB/Swiss-Prot
	Q5JSV1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	ACTL7B	actin like 7B	ACTL7B	actin-like 7B	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