Sh3gl2 (SH3 domain containing GRB2 like 2, endophilin A1)

Gene: Sh3gl2 (SH3 domain containing GRB2 like 2, endophilin A1) Chinchilla lanigera

Analyze

Symbol:

Sh3gl2

Name:

SH3 domain containing GRB2 like 2, endophilin A1

RGD ID:

8856463

Description:

ENCODES a protein that exhibits identical protein binding (ortholog); lipid binding (ortholog); protein kinase binding (ortholog); INVOLVED IN cellular response to brain-derived neurotrophic factor stimulus (ortholog); dendrite extension (ortholog); lipid tube assembly (ortholog); PARTICIPATES IN clathrin-dependent synaptic vesicle endocytosis; ASSOCIATED WITH genetic disease (ortholog); visual epilepsy (ortholog); FOUND IN basal dendrite (ortholog); early endosome (ortholog); glutamatergic synapse (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

endophilin-A1; SH3-domain GRB2-like 2

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955434	20,331,779 - 20,381,376 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955434	20,332,727 - 20,381,320 (+)	NCBI	ChiLan1.0	ChiLan1.0

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 (ISO)

visual epilepsy (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to brain-derived neurotrophic factor stimulus (ISO)

dendrite extension (ISO)

lipid tube assembly (ISO)

membrane bending (ISO)

membrane tubulation (ISO)

negative regulation of blood-brain barrier permeability (ISO)

negative regulation of gene expression (ISO)

negative regulation of protein phosphorylation (ISO)

neuron projection development (ISO)

positive regulation of membrane tubulation (ISO)

postsynaptic actin cytoskeleton organization (ISO)

regulation of clathrin-dependent endocytosis (ISO)

regulation of receptor internalization (ISO)

synaptic vesicle endocytosis (ISO)

synaptic vesicle uncoating (ISO)

vesicle scission (ISO)

Cellular Component

basal dendrite (ISO)

early endosome (ISO)

glutamatergic synapse (ISO)

hippocampal mossy fiber to CA3 synapse (ISO)

neuronal cell body (ISO)

perinuclear region of cytoplasm (ISO)

photoreceptor ribbon synapse (ISO)

postsynapse (ISO)

presynapse (ISO)

presynaptic cytosol (ISO)

Schaffer collateral - CA1 synapse (ISO)

synapse (ISO)

synaptic vesicle membrane (ISO)

Molecular Function

identical protein binding (ISO)

lipid binding (ISO)

protein binding (ISO)

protein kinase binding (ISO)

transmembrane transporter binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

clathrin-dependent synaptic vesicle endocytosis (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Sh3gl2
(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_004955434	20,331,779 - 20,381,376 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955434	20,332,727 - 20,381,320 (+)	NCBI	ChiLan1.0	ChiLan1.0

SH3GL2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	17,579,066 - 17,797,124 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	17,579,066 - 17,797,124 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	17,579,064 - 17,797,122 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	17,569,194 - 17,787,122 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	17,569,193 - 17,787,120	NCBI
Celera	9	17,507,463 - 17,725,658 (+)	NCBI		Celera
Cytogenetic Map	9	p22.2	NCBI
HuRef	9	17,541,205 - 17,759,965 (+)	NCBI		HuRef
CHM1_1	9	17,579,359 - 17,797,531 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	17,591,797 - 17,809,924 (+)	NCBI		T2T-CHM13v2.0

Sh3gl2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	85,123,663 - 85,307,617 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	85,123,363 - 85,557,432 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	85,205,456 - 85,389,380 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	85,205,126 - 85,639,195 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	84,851,360 - 85,035,284 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	84,676,687 - 84,860,611 (+)	NCBI		MGSCv36	mm8
Celera	4	83,721,182 - 83,903,108 (+)	NCBI		Celera
Cytogenetic Map	4	C4	NCBI
cM Map	4	40.23	NCBI

Sh3gl2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	104,699,270 - 104,874,724 (+)	NCBI		GRCr8
mRatBN7.2	5	99,653,189 - 99,827,500 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	99,653,152 - 100,113,843 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	102,036,367 - 102,216,379 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	103,824,073 - 103,998,825 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	103,847,211 - 104,027,230 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	103,479,767 - 103,654,507 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	103,479,767 - 103,654,247 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	107,479,270 - 107,653,523 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	104,129,280 - 104,308,317 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	104,300,491 - 104,313,320 (+)	NCBI
Celera	5	98,159,729 - 98,334,521 (+)	NCBI		Celera
Cytogenetic Map	5	q31	NCBI

SH3GL2
(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	106,761,688 - 106,981,117 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	106,767,634 - 106,987,062 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	17,386,298 - 17,605,722 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	17,878,860 - 18,097,579 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	18,045,198 - 18,097,579 (+)	Ensembl	panpan1.1		panPan2

SH3GL2
(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	37,720,793 - 37,769,027 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	37,577,053 - 37,767,572 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	36,210,473 - 36,429,450 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	38,479,939 - 38,699,050 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	38,479,865 - 38,844,393 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	37,183,251 - 37,402,158 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	36,975,724 - 37,194,721 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	37,613,946 - 37,832,890 (+)	NCBI		UU_Cfam_GSD_1.0

SH3GL2
(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	205,081,231 - 205,285,364 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	205,081,227 - 205,285,359 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	228,802,236 - 229,005,151 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SH3GL2
(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	61,862,997 - 62,085,254 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	61,862,943 - 61,917,315 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	50,001,458 - 50,229,863 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sh3gl2
(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_004624736	21,554,969 - 21,716,877 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624736	21,554,950 - 21,715,522 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_013516394	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01032615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01032616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCQ01093746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000018213 ⟹ ENSCLAP00000018035

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955434	20,331,779 - 20,379,979 (+)	Ensembl

RefSeq Acc Id:

ENSCLAT00000018214 ⟹ ENSCLAP00000018036

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955434	20,332,488 - 20,381,376 (+)	Ensembl

RefSeq Acc Id:

ENSCLAT00000018215 ⟹ ENSCLAP00000018037

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955434	20,332,727 - 20,370,286 (+)	Ensembl

RefSeq Acc Id:

XM_013516394 ⟹ XP_013371848

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955434	20,332,727 - 20,381,320 (+)	NCBI

Sequence:

show sequence

AAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTCGATGATGACTTCAAAGAGATGG
AGAGGAAAGTGGATGTTACCAGCAGGGCTGTGATGGAGATAATGACAAAGACAATCGAATACCT
TCAGCCCAATCCAGCCTCCAGAGCTAAGCTCAGCATGATCAACACGATGTCAAAAATCCGTGGC
CAGGAGAAGGGGCCGGGCTACCCGCAGGCGGAGGCGCTGCTTGCAGAGGCCATGCTCAAGTTCG
GAAGGGAGCTTGGAGAGGAATGCAATTTCGGTCCAGCACTTGGTGAGGTGGGGGAGGCCATGCG
GGAGCTTTCAGAGGTGAAAGACTCGTTGGACATGGAAGTAAAGCAGAACTTCATTGACCCCCTT
CAGAACCTTCATGACAAAGATCTGAGAGAAATTCAGCATCATCTAAAGAAGTTGGAAGGTCGAC
GCCTGGACTTTGATTACAAGAAGAAACGACAAGGCAAGATTCCAGATGAAGAGCTTCGTCAAGC
TCTGGAGAAATTTGACGAGTCCAAAGAAATAGCAGAGTCAAGCATGTTTAATCTCTTGGAGATG
GACATTGAACAGGTGAGCCAGCTCTCTGCACTTGTGCAAGCCCAGCTGGAGTACCACAAACAGG
CAGTGCAGATTCTGCAGCAAGTCACTGTCAGACTGGAGGAAAGGATCAGACAGGCGTCATCGCA
GCCTCGGCGGGAATACCAGCCGAAACCAAGAATGAGCCTGGAGTTTCCCGCTGGAGACAGCACT
CAGCCCAATGGGGGTCTCTCGCACACCGGCACCCCCAGACCTGCGGGTGCCCCCATGGATCAGC
CCTGCTGCCGAGCGCTGTACGACTTTGAACCTGAAAATGAAGGGGAGCTGGGCTTTAAGGAGGG
TGATATCATCACACTCACTAACCAGATCGATGAGAACTGGTATGAGGGGATGCTTCATGGCCAG
TCGGGCTTCTTCCCCATCAATTATGTAGAGATTCTGGTTGCCCTGCCCCATTAGGATGTTACGC
TGGCTGGCTCACCTCCTTCTGACCCAGGTAGCTCAGTTTAACCACTGCTTTGGTAATGCTGCTT
ACAACACATCTTGGGTGCAGGCTGCAGTGGACCAAGTGATCAAGGCCCACTCTTGTCTTGGGTT
GACTTGTGTGCGCCCACTGGAGTCATGGTGATGGGCGGTATCTTCTGAGCCTGGTGAGCATGGC
ATGTGCTTCTGAACACCATCTGAGACTAGCCAGCGGTCACAGAACTGCTGTTTACATGGCTCTC
AGGAGGCTGTGGTTTTTAGAATATGACCATGAGCCACATCATAGAAAAAACATCCTACTGGAAG
ATATTGTCTATCACCCAGAGGCCATATCAAGATCGCAAGTTCTCCATTCACGGAGGAGAAAGTT
CTTGCTTTCACATTGTCCCTTCCCAAATATGTGAGTCAGAATTGTCAAACAAATCCTCCCTCAC
CAGCAAATTTTCTTCTGGTCTAAGTGAGTTAGTCTCTTGATGCCAGCAATAGAAAAGTATTAAT
TGTGGATTGAAATCATTCTTGAAAATAGCACCTTTGTTCATCCCACTTATGCCTACTTCTGCGG
TACAGCCAGTTTTATTCGCTCTGTGTTATTAAAGCTAGAGATGAGATTCTCATTTATTTCTAAA
TATGACAGCAATCAGCATATGAAATAGGTTGGAGAGAAGAAGTCCTCCATGATGAGGAACTGGG
AAGAGATCTTGTTTCCCAGCTTAAATTTCTTGCTGTACAGAAGCCATGTATATATTTAGGTATT
TCTGAAGGTTAAGGGAAGGGAGACAACCATCTTCTCTTAAGTTTTATTTATGAATTGTGTTTCA
TGAATCTATTTGGCACAAAGAAATAAGGAGAAAACACCAGTAACCAGTTTCCCACTACTTCGTA
GACCAAGAAACAGTAAATGTCTTTCACTTTTACCTTGTGTTCCTTGAACATTGTTTTGTGCATA
TTCTGCCCTCAATGAGGACCAAATGAAGATGATTTTTGTGCTTAGCAGTTTAAGGTTTGTGGCT
GCAAATACCTTCCCAATTCAGTTGTTACTTTTTGATCTGTTCTTTCTATCCCACCTTCATTTTG
TGTGTACAGTGCTGTGTGTAAGCTTATCAGTGTTGGGGTTTTTCTATGTCATGAAAGTCCTGTT
AGGTATCCAGAGTTCTATTTATCTAGCTATACAGACTCTCCGAGAGGTTTAATGTGCTGCTTCC
AATGTGCCACCTGCGGTAGTGGATCATGTGGAGTAAAAGGCAAATCTTACTGCTTACTGTATAG
ACTCACCATGGGAAGCATCGCTGTTTCCAATAAATATTGCTGAGAACAAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_013371848	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000018035.1
	ENSCLAP00000018036
	ENSCLAP00000018036.1
	ENSCLAP00000018037.1

RefSeq Acc Id:

XP_013371848 ⟸ XM_013516394

- UniProtKB:

A0A8C2VQA2 (UniProtKB/TrEMBL), A0A8C2VTA3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MERKVDVTSRAVMEIMTKTIEYLQPNPASRAKLSMINTMSKIRGQEKGPGYPQAEALLAEAMLK
FGRELGEECNFGPALGEVGEAMRELSEVKDSLDMEVKQNFIDPLQNLHDKDLREIQHHLKKLEG
RRLDFDYKKKRQGKIPDEELRQALEKFDESKEIAESSMFNLLEMDIEQVSQLSALVQAQLEYHK
QAVQILQQVTVRLEERIRQASSQPRREYQPKPRMSLEFPAGDSTQPNGGLSHTGTPRPAGAPMD
QPCCRALYDFEPENEGELGFKEGDIITLTNQIDENWYEGMLHGQSGFFPINYVEILVALPH

hide sequence

RefSeq Acc Id:

ENSCLAP00000018035 ⟸ ENSCLAT00000018213

RefSeq Acc Id:

ENSCLAP00000018036 ⟸ ENSCLAT00000018214

RefSeq Acc Id:

ENSCLAP00000018037 ⟸ ENSCLAT00000018215

Protein Domains

BAR SH3

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000012375	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000018213.1	UniProtKB/TrEMBL
	ENSCLAT00000018214	ENTREZGENE
	ENSCLAT00000018214.1	UniProtKB/TrEMBL
	ENSCLAT00000018215.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1270.60	UniProtKB/TrEMBL
	SH3 Domains	UniProtKB/TrEMBL
InterPro	AH/BAR_dom_sf	UniProtKB/TrEMBL
	BAR_dom	UniProtKB/TrEMBL
	Endophilin_A_SH3	UniProtKB/TrEMBL
	SH3-like_dom_sf	UniProtKB/TrEMBL
	SH3_domain	UniProtKB/TrEMBL
NCBI Gene	Sh3gl2	ENTREZGENE
PANTHER	ENDOPHILIN-A1	UniProtKB/TrEMBL
	SH3 DOMAIN-CONTAINING	UniProtKB/TrEMBL
Pfam	BAR	UniProtKB/TrEMBL
	SH3_1	UniProtKB/TrEMBL
PRINTS	SH3DOMAIN	UniProtKB/TrEMBL
	SPECTRNALPHA	UniProtKB/TrEMBL
PROSITE	BAR	UniProtKB/TrEMBL
	SH3	UniProtKB/TrEMBL
SMART	BAR	UniProtKB/TrEMBL
	SH3	UniProtKB/TrEMBL
Superfamily-SCOP	SSF103657	UniProtKB/TrEMBL
	SSF50044	UniProtKB/TrEMBL
UniProt	A0A8C2VMW2_CHILA	UniProtKB/TrEMBL
	A0A8C2VQA2	ENTREZGENE, UniProtKB/TrEMBL
	A0A8C2VTA3	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-03	Sh3gl2	SH3 domain containing GRB2 like 2, endophilin A1		SH3-domain GRB2-like 2	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

RGD Manual Annotations