ACTL9 (actin like 9) - Rat Genome Database

Name: ACTL9
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: ACTL9 (actin like 9) Homo sapiens

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Symbol:

ACTL9

Name:

actin like 9

RGD ID:

1602048

HGNC Page

HGNC:28494

Description:

Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in acrosome assembly and fertilization. Located in acrosomal vesicle; perinuclear theca; and sperm head. Implicated in spermatogenic failure 53.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

actin-like 9; actin-like protein 9; HSD21; MGC33407; SPGF53; testicular tissue protein Li 15; testicular tissue protein Li 9

RGD Orthologs

Alliance Orthologs

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):	Actl9 (actin-like 9)	HGNC	Ensembl, HGNC, HomoloGene, NCBI
Rattus norvegicus (Norway rat):	Actl9 (actin-like 9)	RGD	RGD
Pan paniscus (bonobo/pygmy chimpanzee):	ACTL9 (actin like 9)	NCBI	Ortholog
Canis lupus familiaris (dog):	ACTL9 (actin like 9)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Actl9 (actin like 9)	NCBI	Ortholog
Sus scrofa (pig):	ACTL9 (actin like 9)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ACTL9 (actin like 9)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Actl9 (actin like 9)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Actl9b (actin-like 9b)	HGNC	Ensembl, Inparanoid, OrthoDB, Panther, PhylomeDB, Treefam
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Actl9 (actin-like 9)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Actl9 (actin-like 9)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Actl9b (actin-like 9b)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
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	19	8,697,400 - 8,698,795 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	8,697,400 - 8,698,795 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	8,807,750 - 8,809,145 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	8,668,753 - 8,670,172 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	8,627,110 - 8,628,531 (-)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	8,423,908 - 8,425,329 (-)	NCBI		HuRef
CHM1_1	19	8,807,253 - 8,808,674 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	8,692,998 - 8,694,393 (-)	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

atopic dermatitis (EXP)

autistic disorder (IAGP)

spermatogenic failure 53 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (ISO)

dichloroacetic acid (ISO)

diclofenac (ISO)

epoxiconazole (ISO)

fonofos (EXP)

ibuprofen (ISO)

parathion (EXP)

potassium dichromate (ISO)

resveratrol (EXP)

terbufos (EXP)

titanium dioxide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acrosome assembly (IEA,IMP)

axonogenesis (IBA)

cell motility (IBA)

fertilization (IDA,IEA)

postsynaptic actin cytoskeleton organization (IEA)

single fertilization (IEA)

Cellular Component

acrosomal vesicle (IDA,IEA)

actin filament (IBA)

axon (IBA)

cytoplasm (IBA,IEA)

cytoplasmic vesicle (IEA)

cytoskeleton (IEA)

membrane (IBA)

NuA4 histone acetyltransferase complex (IBA)

perinuclear theca (IDA,IEA)

sperm head (IDA)

synapse (IBA)

Molecular Function

protein binding (IPI)

protein kinase binding (IBA)

structural constituent of postsynaptic actin cytoskeleton (IBA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Autosomal recessive inheritance (IAGP)

Male infertility (IAGP)

Tapered sperm head (IAGP)

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:12477932	PMID:21873635	PMID:22197932	PMID:23278845	PMID:26127003	PMID:32296183	PMID:33626338	PMID:38769899

Genomics

Comparative Map Data

ACTL9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	8,697,400 - 8,698,795 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	8,697,400 - 8,698,795 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	8,807,750 - 8,809,145 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	8,668,753 - 8,670,172 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	8,627,110 - 8,628,531 (-)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	8,423,908 - 8,425,329 (-)	NCBI		HuRef
CHM1_1	19	8,807,253 - 8,808,674 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	8,692,998 - 8,694,393 (-)	NCBI		T2T-CHM13v2.0

Actl9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	33,651,873 - 33,653,242 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	33,651,870 - 33,653,242 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	33,432,899 - 33,434,268 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	33,432,896 - 33,434,268 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	33,569,844 - 33,571,213 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	33,035,344 - 33,036,713 (+)	NCBI		MGSCv36	mm8
Celera	17	36,194,369 - 36,195,738 (+)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	17.98	NCBI

Actl9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	14,936,690 - 14,938,067 (+)	NCBI		GRCr8
mRatBN7.2	7	14,234,504 - 14,235,881 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	14,234,504 - 14,235,881 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	17,237,799 - 17,239,176 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	19,108,924 - 19,110,301 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	16,989,328 - 16,990,705 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	18,310,624 - 18,312,001 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	18,310,624 - 18,312,001 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	18,488,144 - 18,489,521 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	15,944,094 - 15,945,471 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	15,944,166 - 15,945,467 (+)	NCBI
Celera	7	13,134,241 - 13,135,618 (+)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

ACTL9
(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	20	13,373,963 - 13,375,376 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	12,491,532 - 12,492,945 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	7,992,891 - 7,994,357 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	8,837,849 - 8,839,272 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	8,837,899 - 8,839,149 (-)	Ensembl	panpan1.1		panPan2

ACTL9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	53,176,345 - 53,179,880 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	53,178,504 - 53,179,754 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	52,976,304 - 52,979,829 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	53,703,627 - 53,707,156 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	53,705,788 - 53,707,038 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	52,903,687 - 52,907,218 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	53,351,366 - 53,354,889 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	53,582,590 - 53,586,122 (-)	NCBI		UU_Cfam_GSD_1.0

Actl9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	212,417,697 - 212,419,135 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	5,415,699 - 5,416,946 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	5,415,699 - 5,416,946 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACTL9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	70,658,247 - 70,659,497 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	70,658,141 - 70,659,497 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	71,026,249 - 71,027,727 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ACTL9
(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	6	8,045,858 - 8,047,510 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	8,045,910 - 8,047,160 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	12,181,584 - 12,183,167 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Actl9
(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_004624828	1,379,751 - 1,380,965 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	1,379,709 - 1,381,237 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ACTL9
37 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	copy number gain	See cases [RCV000052879]	Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]\|See cases [RCV000052881]	Chr19:4039158..9176125 [GRCh38] Chr19:4039156..9286801 [GRCh37] Chr19:3990156..9147801 [NCBI36] Chr19:19p13.3-13.2	pathogenic
NM_178525.4(ACTL9):c.281T>G (p.Leu94Arg)	single nucleotide variant	Malignant melanoma [RCV000072462]	Chr19:8698421 [GRCh38] Chr19:8808771 [GRCh37] Chr19:8669771 [NCBI36] Chr19:19p13.2	not provided
GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207085]	Chr19:8661944..10104083 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.875A>G (p.Lys292Arg)	single nucleotide variant	not specified [RCV004320524]	Chr19:8697827 [GRCh38] Chr19:8808177 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_178525.5(ACTL9):c.842A>G (p.Lys281Arg)	single nucleotide variant	not specified [RCV004322866]	Chr19:8697860 [GRCh38] Chr19:8808210 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	copy number gain	not provided [RCV000684096]	Chr19:3120160..9732820 [GRCh37] Chr19:19p13.3-13.2	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	duplication	Autism [RCV000754212]	Chr19:7981357..10019383 [GRCh38] Chr19:19p13.2	likely pathogenic
GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	copy number gain	not provided [RCV001259373]	Chr19:8518395..10053298 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.2(chr19:8680063-9273676)x3	copy number gain	not provided [RCV001259374]	Chr19:8680063..9273676 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu)	single nucleotide variant	Spermatogenic failure 53 [RCV001353193]	Chr19:8697564 [GRCh38] Chr19:8807914 [GRCh37] Chr19:19p13.2	pathogenic
NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter)	single nucleotide variant	Spermatogenic failure 53 [RCV001353194]	Chr19:8697493 [GRCh38] Chr19:8807843 [GRCh37] Chr19:19p13.2	pathogenic
NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu)	single nucleotide variant	Spermatogenic failure 53 [RCV001353192]	Chr19:8697668 [GRCh38] Chr19:8808018 [GRCh37] Chr19:19p13.2	pathogenic
NM_178525.5(ACTL9):c.955G>T (p.Ala319Ser)	single nucleotide variant	not specified [RCV004310377]	Chr19:8697747 [GRCh38] Chr19:8808097 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.511C>T (p.Arg171Cys)	single nucleotide variant	not specified [RCV004609846]	Chr19:8698191 [GRCh38] Chr19:8808541 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.610T>A (p.Tyr204Asn)	single nucleotide variant	not specified [RCV004184732]	Chr19:8698092 [GRCh38] Chr19:8808442 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.781G>A (p.Val261Met)	single nucleotide variant	not specified [RCV004146757]	Chr19:8697921 [GRCh38] Chr19:8808271 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.104G>A (p.Arg35Gln)	single nucleotide variant	not specified [RCV004111164]	Chr19:8698598 [GRCh38] Chr19:8808948 [GRCh37] Chr19:19p13.2	likely benign
NM_178525.5(ACTL9):c.68A>T (p.Asn23Ile)	single nucleotide variant	not specified [RCV004217243]	Chr19:8698634 [GRCh38] Chr19:8808984 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.215C>G (p.Thr72Ser)	single nucleotide variant	not specified [RCV004100400]	Chr19:8698487 [GRCh38] Chr19:8808837 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.113C>G (p.Pro38Arg)	single nucleotide variant	not specified [RCV004139411]	Chr19:8698589 [GRCh38] Chr19:8808939 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.427G>A (p.Asp143Asn)	single nucleotide variant	not specified [RCV004113943]	Chr19:8698275 [GRCh38] Chr19:8808625 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.622G>A (p.Val208Ile)	single nucleotide variant	not specified [RCV004092130]	Chr19:8698080 [GRCh38] Chr19:8808430 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.565G>A (p.Gly189Ser)	single nucleotide variant	not specified [RCV004091540]	Chr19:8698137 [GRCh38] Chr19:8808487 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.319G>C (p.Glu107Gln)	single nucleotide variant	not specified [RCV004237216]	Chr19:8698383 [GRCh38] Chr19:8808733 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.754G>A (p.Glu252Lys)	single nucleotide variant	not specified [RCV004110879]	Chr19:8697948 [GRCh38] Chr19:8808298 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.56G>A (p.Arg19Lys)	single nucleotide variant	not specified [RCV004180661]	Chr19:8698646 [GRCh38] Chr19:8808996 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.295G>C (p.Gly99Arg)	single nucleotide variant	not specified [RCV004131710]	Chr19:8698407 [GRCh38] Chr19:8808757 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.823G>A (p.Glu275Lys)	single nucleotide variant	not specified [RCV004308566]	Chr19:8697879 [GRCh38] Chr19:8808229 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.682C>G (p.Leu228Val)	single nucleotide variant	not specified [RCV004253592]	Chr19:8698020 [GRCh38] Chr19:8808370 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.48G>T (p.Glu16Asp)	single nucleotide variant	not specified [RCV004269549]	Chr19:8698654 [GRCh38] Chr19:8809004 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.1193T>C (p.Val398Ala)	single nucleotide variant	not specified [RCV004319402]	Chr19:8697509 [GRCh38] Chr19:8807859 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.47A>G (p.Glu16Gly)	single nucleotide variant	not specified [RCV004266452]	Chr19:8698655 [GRCh38] Chr19:8809005 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.856C>T (p.Arg286Cys)	single nucleotide variant	not specified [RCV004259472]	Chr19:8697846 [GRCh38] Chr19:8808196 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.601G>A (p.Gly201Arg)	single nucleotide variant	not specified [RCV004276479]	Chr19:8698101 [GRCh38] Chr19:8808451 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.494T>A (p.Val165Glu)	single nucleotide variant	not specified [RCV004315606]	Chr19:8698208 [GRCh38] Chr19:8808558 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.22T>C (p.Ser8Pro)	single nucleotide variant	not specified [RCV004365101]	Chr19:8698680 [GRCh38] Chr19:8809030 [GRCh37] Chr19:19p13.2	likely benign
GRCh37/hg19 19p13.2(chr19:8680064-9034843)x3	copy number gain	not provided [RCV003485191]	Chr19:8680064..9034843 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.1203_1222del (p.Glu401fs)	deletion	Spermatogenic failure 53 [RCV003993632]	Chr19:8697480..8697499 [GRCh38] Chr19:8807830..8807849 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.1199G>A (p.Arg400Gln)	single nucleotide variant	ACTL9-related disorder [RCV003923884]	Chr19:8697503 [GRCh38] Chr19:8807853 [GRCh37] Chr19:19p13.2	likely benign
NM_178525.5(ACTL9):c.1001T>C (p.Leu334Ser)	single nucleotide variant	not specified [RCV004430957]	Chr19:8697701 [GRCh38] Chr19:8808051 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.389G>T (p.Arg130Leu)	single nucleotide variant	not specified [RCV004430980]	Chr19:8698313 [GRCh38] Chr19:8808663 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.788C>G (p.Ser263Cys)	single nucleotide variant	not specified [RCV004431022]	Chr19:8697914 [GRCh38] Chr19:8808264 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.520G>A (p.Ala174Thr)	single nucleotide variant	not specified [RCV004430985]	Chr19:8698182 [GRCh38] Chr19:8808532 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.1011C>G (p.Asn337Lys)	single nucleotide variant	not specified [RCV004430961]	Chr19:8697691 [GRCh38] Chr19:8808041 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.1171C>A (p.Arg391Ser)	single nucleotide variant	not specified [RCV004430966]	Chr19:8697531 [GRCh38] Chr19:8807881 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.576C>G (p.Ser192Arg)	single nucleotide variant	not specified [RCV004430999]	Chr19:8698126 [GRCh38] Chr19:8808476 [GRCh37] Chr19:19p13.2	uncertain significance
NM_178525.5(ACTL9):c.600C>G (p.His200Gln)	single nucleotide variant	not specified [RCV004603020]	Chr19:8698102 [GRCh38] Chr19:8808452 [GRCh37] Chr19:19p13.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	455
Count of miRNA genes:	425
Interacting mature miRNAs:	455
Transcripts:	ENST00000324436
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
1298499	UAE1_H	Urinary albumin excretion QTL 1 (human)	2.73	0.0009	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	19	1	16075902	Human
406938241	GWAS587217_H	BMI-adjusted leptin measurement QTL GWAS587217 (human)		0.0000002	BMI-adjusted leptin measurement		19	8698592	8698593	Human
1643451	SLIPL6_H	Serum lipid level QTL 6 (human)	2.19	0.0008	Lipid level		19	1	16075902	Human
406938885	GWAS587861_H	BMI-adjusted leptin measurement QTL GWAS587861 (human)		0.0000009	BMI-adjusted leptin measurement		19	8698592	8698593	Human
1581534	BP76_H	Blood pressure QTL 76 (human)	2	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
406938167	GWAS587143_H	BMI-adjusted leptin measurement QTL GWAS587143 (human)		0.0000004	BMI-adjusted leptin measurement		19	8698592	8698593	Human
1581535	BP65_H	Blood pressure QTL 65 (human)	3.1	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
406938234	GWAS587210_H	BMI-adjusted leptin measurement QTL GWAS587210 (human)		0.0000007	BMI-adjusted leptin measurement		19	8698592	8698593	Human
2314591	INSUL4_H	Insulin level QTL 4 (human)	3.8	0.000038	Insulin level	fasting	19	1	16075902	Human
1298476	BP3_H	Blood pressure QTL 3 (human)	2.4		Blood pressure	systolic	19	1	16075902	Human

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	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
467	820	873	757	1465	583	789	168	606	105	700	2195	2221	2	1116	221	815	573	63

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_178525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC093230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC243312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI798166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY248901	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC024028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC045752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC007146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY011370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY042660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000324436 ⟹ ENSP00000316674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	8,697,400 - 8,698,795 (-)	Ensembl

Ensembl Acc Id:

ENST00000612068 ⟹ ENSP00000482603

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	8,697,454 - 8,698,705 (-)	Ensembl

RefSeq Acc Id:

NM_178525 ⟹ NP_848620

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	8,697,400 - 8,698,795 (-)	NCBI
GRCh37	19	8,807,751 - 8,809,172 (-)	RGD
Build 36	19	8,668,753 - 8,670,172 (-)	NCBI Archive
Celera	19	8,627,110 - 8,628,531 (-)	RGD
HuRef	19	8,423,904 - 8,425,337 (-)	NCBI
CHM1_1	19	8,807,249 - 8,808,682 (-)	NCBI
T2T-CHM13v2.0	19	8,692,998 - 8,694,393 (-)	NCBI

Sequence:

show sequence

GTCTGCCTGCCCTCCCCACTGGCCGGGCCTCAACCTCTTCTCCCCGCAACCCCAACCCCAGAGG
AAAAGCCCCCTCACCTGGCGTCCCGCAACCATGGATGCAAGTCGCCCCAAGTCCTCGGAATCCC
AGTCCTCCCTGGAGGCCCCCAGGCCCGGCCCAAACCCCAGTCCCAACGTGGTGAACAAGCCCCT
GCAGCGGGACTCCCCCGGCATGGTGGCCGACAGGCTGCCACCAAAGACCGGCGCGGTGGTTATT
GACATGGGCACAGGCACCTGTAAGGTAGGTTTTGCTGGGCAGGCCAGCCCCACCTACACCGTGG
CCACCATCCTGGGCTGCCAGCCCAAGAAACCCGCCACCTCGGGGCAGTCCGGGCTGCAGACGTT
CATCGGCGAGGCAGCCCGCGTGCTCCCAGAGCTGACGCTGGTGCAACCCCTGCGCAGCGGCATC
GTCGTGGACTGGGATGCCGCCGAGCTCATCTGGCGCCACCTGCTGGAGCACGACCTCCGAGTGG
CCACCCACGACCACCCGCTGCTGTTCTCCGACCCACCCTTCAGCCCGGCCACCAACCGCGAGAA
GCTAGTGGAGGTGGCCTTCGAGTCGCTGCGCTCCCCAGCCATGTACGTGGCATCGCAGTCGGTG
CTGTCTGTCTACGCCCACGGTCGTGTCAGCGGGCTGGTGGTGGACACGGGACACGGGGTCACCT
ACACAGTGCCCGTCTTCCAGGGCTACAACCTGCTCCACGCCACGGAGCGTCTGGACCTGGCGGG
CAACAACCTGACCGCCTTCCTGGCGGAGATGCTGCTCCAGGCCGGCCTGCCCCTGGGACAGCAG
GACCTGGACCTAGTGGAGAACATTAAGCACCACTATTGCTACGTGGCCTCCGACTTCCAGAAGG
AGCAGGCCCGGCCGGAGCAGGAGTACAAGCGGACTCTGAAGCTGCCCGATGGGCGCACGGTCAC
CCTGGGCAAGGAGCTGTTCCAGTGTCCGGAGCTGCTGTTCAACCCCCCAGAGGTCCCGGGGCTG
TCACCCGTCGGCCTCTCCACCATGGCCAAGCAGAGTCTCCGCAAGTTGTCACTGGAGATGCGCG
CGGACTTGGCCCAAAACGTGCTTCTCTGCGGTGGGTCCTCGCTCTTCACCGGCTTCGAGGGTCG
CTTCCGGGCAGAGCTGCTGCGCGCTCTGCCAGCCGAGACCCACGTGGTGGTGGCTGCCCAGCCC
ACCAGGAATTTCTCCGTATGGATCGGGGGCTCCATCCTGGCCTCCCTGCGCGCCTTCCAGTCCT
GCTGGGTCCTGCGGGAGCAGTACGAGGAACAGGGTCCCTATATCGTGTACCGCAAATGCTACTG
ACCAGGGCAGAGCTGGGGAGGGCGTGGGGGCAGTAAAGCCTCTGCTACAGCC

hide sequence

Protein Sequences


Protein RefSeqs	NP_848620	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH24028	(Get FASTA)	NCBI Sequence Viewer
	AAH45752	(Get FASTA)	NCBI Sequence Viewer
	AAP20052	(Get FASTA)	NCBI Sequence Viewer
	AEE60922	(Get FASTA)	NCBI Sequence Viewer
	AEE60928	(Get FASTA)	NCBI Sequence Viewer
	BAF84947	(Get FASTA)	NCBI Sequence Viewer
	CBH19378	(Get FASTA)	NCBI Sequence Viewer
	CBH30614	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000316674
	ENSP00000316674.3
GenBank Protein	Q8TC94	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_848620 ⟸ NM_178525

- UniProtKB:

A8K893 (UniProtKB/Swiss-Prot), Q6X960 (UniProtKB/Swiss-Prot), Q8TC94 (UniProtKB/Swiss-Prot), A0A140VJD5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDASRPKSSESQSSLEAPRPGPNPSPNVVNKPLQRDSPGMVADRLPPKTGAVVIDMGTGTCKVG
FAGQASPTYTVATILGCQPKKPATSGQSGLQTFIGEAARVLPELTLVQPLRSGIVVDWDAAELI
WRHLLEHDLRVATHDHPLLFSDPPFSPATNREKLVEVAFESLRSPAMYVASQSVLSVYAHGRVS
GLVVDTGHGVTYTVPVFQGYNLLHATERLDLAGNNLTAFLAEMLLQAGLPLGQQDLDLVENIKH
HYCYVASDFQKEQARPEQEYKRTLKLPDGRTVTLGKELFQCPELLFNPPEVPGLSPVGLSTMAK
QSLRKLSLEMRADLAQNVLLCGGSSLFTGFEGRFRAELLRALPAETHVVVAAQPTRNFSVWIGG
SILASLRAFQSCWVLREQYEEQGPYIVYRKCY

hide sequence

Ensembl Acc Id:

ENSP00000482603 ⟸ ENST00000612068

Ensembl Acc Id:

ENSP00000316674 ⟸ ENST00000324436

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TC94-F1-model_v2	AlphaFold	Q8TC94	1-416	view protein structure

Promoters

RGD ID:

6795101

Promoter ID:

HG_KWN:28779

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

NB4

Transcripts:

NM_178525

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	8,669,531 - 8,670,031 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28494	AgrOrtholog
COSMIC	ACTL9	COSMIC
Ensembl Genes	ENSG00000181786	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000324436	ENTREZGENE
	ENST00000324436.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.420.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000181786	GTEx
HGNC ID	HGNC:28494	ENTREZGENE
Human Proteome Map	ACTL9	Human Proteome Map
InterPro	Actin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ATPase_NBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:284382	UniProtKB/Swiss-Prot
NCBI Gene	284382	ENTREZGENE
OMIM	619251	OMIM
PANTHER	ACTIN	UniProtKB/TrEMBL
	ACTIN-LIKE PROTEIN 9	UniProtKB/TrEMBL
	PTHR11937	UniProtKB/Swiss-Prot
	PTHR11937:SF194	UniProtKB/Swiss-Prot
Pfam	Actin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165392996	PharmGKB
PRINTS	ACTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ACTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Actin-like ATPase domain	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	A0A140VJD5	ENTREZGENE, UniProtKB/TrEMBL
	A8K893	ENTREZGENE
	ACTL9_HUMAN	UniProtKB/Swiss-Prot
	Q6X960	ENTREZGENE
	Q8TC94	ENTREZGENE
UniProt Secondary	A8K893	UniProtKB/Swiss-Prot
	Q6X960	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	ACTL9	actin like 9		actin-like 9	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Human Phenotype Annotations - HPO

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