MALL (mal, T cell differentiation protein like)

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Gene: MALL (mal, T cell differentiation protein like) Homo sapiens

Analyze

Symbol:

MALL

Name:

mal, T cell differentiation protein like

RGD ID:

1342796

HGNC Page

HGNC

Description:

Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Localizes to several cellular components, including Golgi membrane; clathrin-coated vesicle; and membrane raft.

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

BENE; mal, T-cell differentiation protein like; mal, T-cell differentiation protein-like; MAL-like protein; MGC4419

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Related Pseudogenes:

LOC100132330 MALLP1

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.p13 Ensembl	2	110,083,870 - 110,116,022 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	2	110,083,870 - 110,116,566 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	2	110,083,870 - 110,118,139 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	2	110,841,447 - 110,874,143 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	110,198,736 - 110,230,937 (-)	NCBI	NCBI36		hg18	NCBI36
Celera	2	104,933,285 - 104,965,980 (+)	NCBI
Cytogenetic Map	2	q13	NCBI
HuRef	2	103,981,751 - 104,014,500 (-)	NCBI		HuRef
CHM1_1	2	110,839,647 - 110,878,456 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

cone dystrophy (IAGP)

nephronophthisis (IAGP)

nephronophthisis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

2-hydroxypropanoic acid (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

6-propyl-2-thiouracil (ISO)

afimoxifene (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

cadmium atom (EXP)

calcitriol (EXP)

cobalt dichloride (EXP)

copper atom (ISO)

copper(0) (ISO)

deoxynivalenol (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dioxygen (EXP)

elemental selenium (EXP)

folic acid (EXP,ISO)

fonofos (EXP)

furan (ISO)

glycidol (ISO)

indole-3-methanol (ISO)

indometacin (EXP)

irinotecan (EXP)

manganese atom (ISO)

manganese(0) (ISO)

manganese(II) chloride (ISO)

ochratoxin A (ISO)

parathion (EXP)

pirinixic acid (ISO)

rac-lactic acid (EXP)

selenium atom (EXP)

Soman (ISO)

terbufos (EXP)

Tesaglitazar (ISO)

titanium dioxide (ISO)

trimellitic anhydride (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cholesterol homeostasis (NAS)

myelination (IBA)

Cellular Component

clathrin-coated vesicle (IDA)

cytoplasmic vesicle (IDA)

Golgi membrane (IDA)

integral component of membrane (IBA,IEA)

membrane raft (IDA)

plasma membrane (IDA)

Molecular Function

protein binding (IPI)

structural constituent of myelin sheath (IBA)

References

References - curated


1.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1294831	PMID:7622049	PMID:9168137	PMID:9326933	PMID:9361039	PMID:11294831	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16189514	PMID:16341674	PMID:18305945
PMID:21873635	PMID:24623722	PMID:25401970	PMID:25416956	PMID:25496667	PMID:31515488	PMID:31980649	PMID:32296183

Genomics

Comparative Map Data

MALL
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	2	110,083,870 - 110,116,022 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	2	110,083,870 - 110,116,566 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	2	110,083,870 - 110,118,139 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	2	110,841,447 - 110,874,143 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	110,198,736 - 110,230,937 (-)	NCBI	NCBI36		hg18	NCBI36
Celera	2	104,933,285 - 104,965,980 (+)	NCBI
Cytogenetic Map	2	q13	NCBI
HuRef	2	103,981,751 - 104,014,500 (-)	NCBI		HuRef
CHM1_1	2	110,839,647 - 110,878,456 (-)	NCBI		CHM1_1

Mall
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	127,546,310 - 127,571,817 (-)	NCBI	GRCm39		mm39
GRCm38	2	127,704,386 - 127,730,772 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	127,704,386 - 127,729,932 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	127,530,126 - 127,555,633 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	2	127,395,831 - 127,421,338 (-)	NCBI			mm8
Celera	2	128,940,723 - 128,964,505 (-)	NCBI		Celera
Cytogenetic Map	2	F1	NCBI

Mall
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rnor_6.0	3	120,272,583 - 120,307,090 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	120,272,583 - 120,306,551 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	127,027,427 - 127,060,350 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	115,230,798 - 115,253,566 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	3	115,136,370 - 115,159,139 (-)	NCBI
Celera	3	113,762,760 - 113,785,416 (-)	NCBI		Celera
Cytogenetic Map	3	q36	NCBI

Mall
(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_004955470	3,313,623 - 3,343,505 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955470	3,313,152 - 3,344,950 (+)	NCBI	ChiLan1.0	ChiLan1.0

MALL
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	2A	111,584,239 - 111,618,382 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	111,584,239 - 111,618,382 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	2A	91,608,799 - 91,643,096 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

MALL
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	17	35,037,177 - 35,064,159 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	17	35,035,900 - 35,065,332 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Mall
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004937185	114,823 - 153,595 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MALL
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	3	46,280,331 - 46,315,773 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

MALL
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	14	13,480,233 - 13,515,392 (-)	NCBI
ChlSab1.1 Ensembl	14	13,480,232 - 13,513,287 (-)	Ensembl

Mall
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624749	1,795,238 - 1,820,900 (+)	NCBI

Position Markers

RH79121

Human Assembly	Chr	Position (strand)	Source	JBrowse
Build 36	2	110,198,802 - 110,198,947	RGD	NCBI36
Celera	2	104,965,769 - 104,965,914	RGD
Cytogenetic Map	2	q13	UniSTS

RH122303

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	111,043,300 - 111,043,503	UniSTS	GRCh37
GRCh37	2	110,843,027 - 110,843,230	UniSTS	GRCh37
Build 36	2	110,200,316 - 110,200,519	RGD	NCBI36
Celera	2	104,964,197 - 104,964,400	RGD
Cytogenetic Map	2	q13	UniSTS
HuRef	2	103,983,331 - 103,983,534	UniSTS

BENE_8767

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	111,044,158 - 111,044,986	UniSTS	GRCh37
GRCh37	2	110,841,544 - 110,842,372	UniSTS	GRCh37
Build 36	2	110,198,833 - 110,199,661	RGD	NCBI36
Celera	2	104,965,055 - 104,965,883	RGD
HuRef	2	103,981,848 - 103,982,676	UniSTS

SHGC-62016

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	111,044,782 - 111,044,978	UniSTS	GRCh37
GRCh37	2	110,841,552 - 110,841,748	UniSTS	GRCh37
Build 36	2	110,198,841 - 110,199,037	RGD	NCBI36
Celera	2	104,965,679 - 104,965,875	RGD
Cytogenetic Map	2	q13	UniSTS
HuRef	2	103,981,856 - 103,982,052	UniSTS
GeneMap99-GB4 RH Map	2	389.85	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1489
Count of miRNA genes:	670
Interacting mature miRNAs:	745
Transcripts:	ENST00000272462, ENST00000424988, ENST00000427178
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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.

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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

415

117

102

155

176

312

407

Low

1711

1848

908

276

333

154

3352

1259

851

161

830

1148

124

1187

1932

Below cutoff

311

800

681

252

742

239

837

923

2681

302

783

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001371559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC013268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI911238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM743962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH878608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U17077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000272462 ⟹ ENSP00000272462

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	110,083,870 - 110,115,822 (-)	Ensembl

RefSeq Acc Id:

ENST00000424988 ⟹ ENSP00000394792

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	110,085,712 - 110,115,821 (-)	Ensembl

RefSeq Acc Id:

ENST00000427178 ⟹ ENSP00000400518

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	110,085,023 - 110,116,022 (-)	Ensembl

RefSeq Acc Id:

NM_001371559 ⟹ NP_001358488

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	110,083,870 - 110,118,139 (-)	NCBI

RefSeq Acc Id:

NM_001371560 ⟹ NP_001358489

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	110,083,870 - 110,115,822 (-)	NCBI

RefSeq Acc Id:

NM_005434 ⟹ NP_005425

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	110,083,870 - 110,115,822 (-)	NCBI
GRCh37	2	110,841,447 - 110,874,143 (-)	RGD
Build 36	2	110,198,736 - 110,230,937 (-)	NCBI Archive
Celera	2	104,933,285 - 104,965,980 (+)	RGD
HuRef	2	103,981,751 - 104,014,500 (-)	NCBI
CHM1_1	2	110,839,647 - 110,878,456 (-)	NCBI

Sequence:

show sequence

ACTAGAGGCAGCAGCCAGCCAGCCCAGCCCTTCTCTGGTGCCTGCCGGTGTGGTCCTCTCCCAG
AGACTGGGGGGCCTTCATCTGCCCCATGAGGAAAAGAGGAGTGGAGGACCATGGAAAGGGATCC
AGAAAAAGAAGGAAACACCAAGTCCCAGGGGCATGAGCTGGAAGGGAGGGCTGCTCCTCCCAGG
GGAGGCTGGGGACTGAGAGCTGTCCCCAAGAGTGGAAAAGGAGGGAGCTGGGCAAGACCCAGCA
TTGTTAGTAACCAGCTCTGTGGTCTTGACTTGACCTCACTGATTCTCAGTCTCCTCACTTGGAA
AAGGGCAAAACAGCCACGTGCAGGCCGTGGTGGGCACCCGGGCTGTCTGCAGATAGCTTGGCTC
ATTGTTGGTCCTCAGTACGCAGCCCTCGTAGCCAAGCAGCTTGGGCCTACACTCTGGGCCCAGG
GGAGTGGCTGTCGCTGGCATCCCCTGGAATAACATGCTCCGGGGGTCAAAGATTCCTTAGCTGG
AAAGGTCTAGGAGGAGACTCCCGCTCTGCTCCCTCCTGCACCAGCGCTGTGCCCCCCGCCGGCC
AGGCAGAGCCATCCGATGCCGCTGGGCCGCCCACTGAGGATCTGCTGGCTGCAGCGAGTGGAAG
GACCTGCTCGGCTGGAACGTTTTTTTTTTTTTTCCCTCCCAGGCGACGTCCGATGGGTGTGTCG
GGCAGGAGGTGATATTTGACAGGCTGCGCGCGGGCGAGCTGCCGCGGAGCACCCGGCAGGGGCT
GACAGCATGGCCTCGCCCGACCCGCCCGCCACCAGCTACGCCCCGTCCGACGTGCCCTCGGGGG
TCGCGCTGTTCCTCACCATCCCTTTCGCCTTCTTCCTGCCCGAGCTGATATTTGGGTTCTTGGT
CTGGACCATGGTAGCCGCCACCCACATAGTATACCCCTTGCTGCAAGGATGGGTGATGTATGTC
TCGCTCACCTCGTTTCTCATCTCCTTGATGTTCCTGTTGTCTTACTTGTTTGGATTTTACAAAA
GATTTGAATCCTGGAGAGTTCTGGACAGCCTGTACCACGGGACCACTGGCATCCTGTACATGAG
CGCTGCCGTCCTACAAGTACATGCCACGATTGTTTCTGAGAAACTGCTGGACCCAAGAATTTAC
TACATTAATTCGGCAGCCTCGTTCTTCGCCTTCATCGCCACGCTGCTCTACATTCTCCATGCCT
TCAGCATCTATTACCACTGATGCACAGGCGCCAGGCCAAGGGGGAAATGCTCTTTGAAAGCTCC
AATTATTGGTCCCCAAAAGCAGCTTCCAACGTTTGCCATCTGGATGACAAACGGAAGATCCACT
AAAACGTCCACGGGATTAACAGAACGTCCTTGCAGACTGAGCGATGACACCACACTTTGTTTGG
ACATTTAAATTCACTCTGCTGAATAGGAGGAAGCTTTTCTTTTTCCTGGGAAAACAACTGTCTC
TTGGAATTATCTGACCATGAACTTGCTCTTCTAGACAACTCACATCAAAGCCCTCACTCCACTA
ATGGAGAATCCTAGCCCCACTAATGCCAAGTCTGTTTGGGGATTTTGCCTCAGCTATGGGCTTC
CCTAGAGTAGGTCTAGGGGAATACTCAGTCTGATCTTTTTTTTGTTTGTTTTATTTTGTTTTTT
TTGAGACGGAGTCTCGCTCTTCCTCCAAGGCTGGAGTGCAGTGACGCGATCTCCACTCACTGCA
GGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGG
CGCCCACCACCGTGCCCGGCTAATTTAGTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATTA
GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA
TTACAGGCGTGAGCCACCGCGCCCGGCCTGATTCTCTTAAAATTGAAGAGGTGCTGCCAAGGCC
TTCAGATCTAACGCAGATGCATAGACCTTGTTCCTGGTACTTGTTCAGCCTGTGCTGGGGAGCC
GTGGTCCCGAGTTCCCTGGGAGGCTGACAGGGTCAAGCCACCCTGCCCACCACCCTCCCACTTC
CCCTCCCCTTTCCTCTCCAGCATTAGGATTCAAGGGAAATTTGCATGAAGCCAATTTTGAGGGT
AGACGTGTGGGGAAAATAAATCATTATACAGTAAGACCTGGGGCTTGAGGGGTGGGGAATGGGG
AGGGAAGGGCATAGCCTGCTCCTCCATGAGTCTGACATCTCGGAAACTGAGCAGCTGCCGGACG
CCTGGGTCAGGAATCCAAGACCCCACCTCTTAAGGACTGGTTCCTCAGAAAGCACCCTCAGGGA
AAAAGGTGAAAACATTACATCCGTGGATTCTCCTGCCACAACCGCATTGGAAGAAAAGGCTGCC
GCAACATCTCAGCGAGGAGTGAAGGACCCATGTCCCAGGAACCGCGCTGCGCCACCTGCACTCA
CCCCCCTCACATTCTCTTAAGCACCCGGTGGCCCTCCGAGGCCTGGCGGAATGGTGGTGCCCAC
GGGGTTGGGCAAGGGCTCACCAGGACCTCAACGGGCAAAGTTGTGCACACTAAAATATCAAATC
AAGGTGCTTGGTTTTAAAGTAAATGTTTTTCTAAAGAAAGCTGTGCTCTTCTGTTGACCCAGAC
GAATAGGGCACAGCCCTGTAACTGCACGTGCCTTCTGTCATTGGGAATGAAATAAATTATTACG
AGAAAGGGACTTGTCCTAACTGGTTTGAGGCCTTACAGTTTTGTATCTACATTTTTCCCCTCCT
GGGGTTTGCGGGGACAGGGACAGAACTACAGGAGTCATGGGAAAGAAAATTCTGGCTTCACTAC
TGCTCACTGCTCACTTTCTGATCACTCTGATACTTTTTTTTTTTTTTTTTTTTTTGCAACCTGA
TACCTTGAAAAGCTTCTATGTGTCTCTCCTTTTGTTGCCTGGCAGCTGTCTAGGATGATCACTG
ATTACTATTTACTAAGTAGCCACATGCAAATAAAAGTTGTTTGGTAAAAAGGAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001358488	(Get FASTA)	NCBI Sequence Viewer
	NP_001358489	(Get FASTA)	NCBI Sequence Viewer
	NP_005425	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA76738	(Get FASTA)	NCBI Sequence Viewer
	AAH03179	(Get FASTA)	NCBI Sequence Viewer
	BAG51765	(Get FASTA)	NCBI Sequence Viewer
	BAG54228	(Get FASTA)	NCBI Sequence Viewer
	CAK32359	(Get FASTA)	NCBI Sequence Viewer
	EAW50639	(Get FASTA)	NCBI Sequence Viewer
	Q13021	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_005425 ⟸ NM_005434
- Peptide Label:	isoform 1
- UniProtKB:	Q13021 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MASPDPPATSYAPSDVPSGVALFLTIPFAFFLPELIFGFLVWTMVAATHIVYPLLQGWVMYVSL TSFLISLMFLLSYLFGFYKRFESWRVLDSLYHGTTGILYMSAAVLQVHATIVSEKLLDPRIYYI NSAASFFAFIATLLYILHAFSIYYH hide sequence

RefSeq Acc Id:	NP_001358488 ⟸ NM_001371559
- Peptide Label:	isoform 2

RefSeq Acc Id:	NP_001358489 ⟸ NM_001371560
- Peptide Label:	isoform 3

RefSeq Acc Id:

ENSP00000394792 ⟸ ENST00000424988

RefSeq Acc Id:

ENSP00000400518 ⟸ ENST00000427178

RefSeq Acc Id:

ENSP00000272462 ⟸ ENST00000272462

Protein Domains

MARVEL

Promoters

RGD ID:

6861312

Promoter ID:

EPDNEW_H3821

Type:

initiation region

Name:

MALL_1

Description:

mal, T-cell differentiation protein like

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3822

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	110,115,819 - 110,115,879	EPDNEW

RGD ID:

6861314

Promoter ID:

EPDNEW_H3822

Type:

initiation region

Name:

MALL_2

Description:

mal, T-cell differentiation protein like

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3821

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	110,116,060 - 110,116,120	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q13(chr2:110104900-110321480)x1	copy number loss	See cases [RCV000133908]	Chr2:110104900..110321480 [GRCh38] Chr2:110862477..111079057 [GRCh37] Chr2:110219766..110513555 [NCBI36] Chr2:2q13	benign
Single allele	deletion	Nephronophthisis 1 [RCV000529276]	Chr2:110095383..110217525 [GRCh38] Chr2:110852960..110975102 [GRCh37] Chr2:2q13	pathogenic
GRCh38/hg38 2q13(chr2:110104900-110371270)x3	copy number gain	See cases [RCV000050264]	Chr2:110104900..110371270 [GRCh38] Chr2:110862477..111128847 [GRCh37] Chr2:110219766..110563384 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0	copy number loss	See cases [RCV000133583]	Chr2:110104900..110207160 [GRCh38] Chr2:110862477..110964737 [GRCh37] Chr2:110219766..110322026 [NCBI36] Chr2:2q13	pathogenic\|benign\|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104900-110201550)x3	copy number gain	See cases [RCV000050451]	Chr2:110104900..110201550 [GRCh38] Chr2:110862477..110959127 [GRCh37] Chr2:110219766..110316416 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3	copy number gain	Autism [RCV000050514]\|See cases [RCV000050514]	Chr2:110104900..110611314 [GRCh38] Chr2:110862477..111368891 [GRCh37] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110025659-110207160)x1	copy number loss	See cases [RCV000050358]	Chr2:110025659..110207160 [GRCh38] Chr2:110783236..110964737 [GRCh37] Chr2:110140525..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110025659-110371270)x0	copy number loss	See cases [RCV000051262]	Chr2:110025659..110371270 [GRCh38] Chr2:110783236..111128847 [GRCh37] Chr2:110140525..110563384 [NCBI36] Chr2:2q13	pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	copy number gain	See cases [RCV000053141]	Chr2:106696282..110223328 [GRCh38] Chr2:107312738..110980905 [GRCh37] Chr2:106679170..110338194 [NCBI36] Chr2:2q12.2-13	uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	copy number gain	See cases [RCV000052947]	Chr2:97672522..110211318 [GRCh38] Chr2:98288985..110968895 [GRCh37] Chr2:97655417..110326184 [NCBI36] Chr2:2q11.2-13	pathogenic
GRCh38/hg38 2q13(chr2:109936618-110452159)x1	copy number loss	See cases [RCV000053606]	Chr2:109936618..110452159 [GRCh38] Chr2:110694195..111209736 [GRCh37] Chr2:110051484..110644273 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110084138-110212693)x1	copy number loss	See cases [RCV000053607]	Chr2:110084138..110212693 [GRCh38] Chr2:110841715..110970270 [GRCh37] Chr2:110199004..110327559 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110084138-110611314)x1	copy number loss	See cases [RCV000053608]	Chr2:110084138..110611314 [GRCh38] Chr2:110841715..111368891 [GRCh37] Chr2:110199004..111085360 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110084194-110212693)x1	copy number loss	See cases [RCV000053609]	Chr2:110084194..110212693 [GRCh38] Chr2:110841771..110970270 [GRCh37] Chr2:110199060..110327559 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110095383-110211318)x1	copy number loss	See cases [RCV000053610]	Chr2:110095383..110211318 [GRCh38] Chr2:110852960..110968895 [GRCh37] Chr2:110210249..110326184 [NCBI36] Chr2:2q13	benign
NM_005434.4(MALL):c.389C>T (p.Ser130Leu)	single nucleotide variant	Malignant melanoma [RCV000060296]	Chr2:110087582 [GRCh38] Chr2:110845159 [GRCh37] Chr2:110202448 [NCBI36] Chr2:2q13	not provided
GRCh38/hg38 2q13(chr2:110104900-110207160)x1	copy number loss	See cases [RCV000050930]	Chr2:110104900..110207160 [GRCh38] Chr2:110862477..110964737 [GRCh37] Chr2:110219766..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110025659-110207160)x3	copy number gain	See cases [RCV000133827]	Chr2:110025659..110207160 [GRCh38] Chr2:110783236..110964737 [GRCh37] Chr2:110140525..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x3	copy number gain	See cases [RCV000050514]	Chr2:110104900..110611314 [GRCh38] Chr2:110862477..111368891 [GRCh37] Chr2:110219766..111085360 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:109623720-110207160)x1	copy number loss	See cases [RCV000133772]	Chr2:109623720..110207160 [GRCh38] Chr2:110381297..110964737 [GRCh37] Chr2:109738586..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x3	copy number gain	See cases [RCV000134229]	Chr2:110104900..110209066 [GRCh38] Chr2:110862477..110966643 [GRCh37] Chr2:2q13	likely benign
GRCh38/hg38 2q13(chr2:110104900-110209066)x1	copy number loss	See cases [RCV000134230]	Chr2:110104900..110209066 [GRCh38] Chr2:110862477..110966643 [GRCh37] Chr2:110219766..110323932 [NCBI36] Chr2:2q13	benign\|likely benign\|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110076063-110257869)x3	copy number gain	See cases [RCV000134234]	Chr2:110076063..110257869 [GRCh38] Chr2:110833640..111015446 [GRCh37] Chr2:110190929..110348650 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:109959903-110360538)x3	copy number gain	See cases [RCV000134235]	Chr2:109959903..110360538 [GRCh38] Chr2:110717480..111118115 [GRCh37] Chr2:110074769..110552653 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104897-110207198)x3	copy number gain	See cases [RCV000134039]	Chr2:110104897..110207198 [GRCh38] Chr2:110862474..110964775 [GRCh37] Chr2:110219763..110322064 [NCBI36] Chr2:2q13	conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104897-110207198)x1	copy number loss	See cases [RCV000134041]	Chr2:110104897..110207198 [GRCh38] Chr2:110862474..110964775 [GRCh37] Chr2:110219763..110322064 [NCBI36] Chr2:2q13	benign\|likely benign\|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110104897-110321488)x1	copy number loss	See cases [RCV000134789]	Chr2:110104897..110321488 [GRCh38] Chr2:110862474..111079065 [GRCh37] Chr2:110219763..110513563 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110025674-110321488)x3	copy number gain	See cases [RCV000134815]	Chr2:110025674..110321488 [GRCh38] Chr2:110783251..111079065 [GRCh37] Chr2:110140540..110513563 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110611314)x1	copy number loss	See cases [RCV000135500]	Chr2:110104900..110611314 [GRCh38] Chr2:110862477..111368891 [GRCh37] Chr2:110219766..111085360 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x3	copy number gain	See cases [RCV000135509]	Chr2:110104900..110207160 [GRCh38] Chr2:110862477..110964737 [GRCh37] Chr2:110219766..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x1	copy number loss	See cases [RCV000135460]	Chr2:110104900..110201550 [GRCh38] Chr2:110862477..110959127 [GRCh37] Chr2:110219766..110316416 [NCBI36] Chr2:2q13	conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 2q13(chr2:110025459-110207301)x3	copy number gain	See cases [RCV000135422]	Chr2:110025459..110207301 [GRCh38] Chr2:110783036..110964878 [GRCh37] Chr2:110140325..110322167 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110025681-110576905)x1	copy number loss	See cases [RCV000136417]	Chr2:110025681..110576905 [GRCh38] Chr2:110783258..111334482 [GRCh37] Chr2:110140547..110811832 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:108719125-110611314)x3	copy number gain	See cases [RCV000137361]	Chr2:108719125..110611314 [GRCh38] Chr2:109335581..111368891 [GRCh37] Chr2:108702013..111085360 [NCBI36] Chr2:2q13	uncertain significance
GRCh38/hg38 2q13(chr2:109975055-110576905)x3	copy number gain	See cases [RCV000137971]	Chr2:109975055..110576905 [GRCh38] Chr2:110732632..111334482 [GRCh37] Chr2:110089921..110775582 [NCBI36] Chr2:2q13	likely benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	copy number gain	See cases [RCV000138645]	Chr2:101710825..110791418 [GRCh38] Chr2:102327287..111548995 [GRCh37] Chr2:101693719..111265466 [NCBI36] Chr2:2q11.2-13	pathogenic
GRCh38/hg38 2q13(chr2:109975072-110207198)x3	copy number gain	See cases [RCV000138513]	Chr2:109975072..110207198 [GRCh38] Chr2:110732649..110964775 [GRCh37] Chr2:110089938..110322064 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110049995-110576905)x3	copy number gain	See cases [RCV000138366]	Chr2:110049995..110576905 [GRCh38] Chr2:110807572..111334482 [GRCh37] Chr2:110164861..110775582 [NCBI36] Chr2:2q13	likely benign
GRCh38/hg38 2q13(chr2:110104897-110371270)x1	copy number loss	See cases [RCV000138384]	Chr2:110104897..110371270 [GRCh38] Chr2:110862474..111128847 [GRCh37] Chr2:110219763..110563384 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110257869)x1	copy number loss	See cases [RCV000140147]	Chr2:110104900..110257869 [GRCh38] Chr2:110862477..111015446 [GRCh37] Chr2:110219766..110348650 [NCBI36] Chr2:2q13	likely benign
GRCh38/hg38 2q13(chr2:110025674-110207198)x3	copy number gain	See cases [RCV000139567]	Chr2:110025674..110207198 [GRCh38] Chr2:110783251..110964775 [GRCh37] Chr2:110140540..110322064 [NCBI36] Chr2:2q13	likely benign
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	copy number gain	See cases [RCV000139569]	Chr2:106516472..110576905 [GRCh38] Chr2:107132928..111334482 [GRCh37] Chr2:106499360..110857227 [NCBI36] Chr2:2q12.2-13	uncertain significance
GRCh38/hg38 2q13(chr2:110066680-110225841)x0	copy number loss	See cases [RCV000140789]	Chr2:110066680..110225841 [GRCh38] Chr2:110824257..110983418 [GRCh37] Chr2:110181546..110340707 [NCBI36] Chr2:2q13	pathogenic
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	copy number gain	See cases [RCV000140834]	Chr2:106428663..112379067 [GRCh38] Chr2:107045119..113136644 [GRCh37] Chr2:106411551..112853115 [NCBI36] Chr2:2q12.2-14.1	uncertain significance
GRCh38/hg38 2q13(chr2:110076063-110209066)x1	copy number loss	See cases [RCV000141046]	Chr2:110076063..110209066 [GRCh38] Chr2:110833640..110966643 [GRCh37] Chr2:110190929..110323932 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110076063-110209066)x3	copy number gain	See cases [RCV000141047]	Chr2:110076063..110209066 [GRCh38] Chr2:110833640..110966643 [GRCh37] Chr2:2q13	benign
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	copy number gain	See cases [RCV000141075]	Chr2:94678532..110602409 [GRCh38] Chr2:95344257..111359986 [GRCh37] Chr2:94707984..111076455 [NCBI36] Chr2:2q11.1-13	pathogenic
GRCh38/hg38 2q13(chr2:109975055-110207160)x1	copy number loss	See cases [RCV000141492]	Chr2:109975055..110207160 [GRCh38] Chr2:110732632..110964737 [GRCh37] Chr2:110089921..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x4	copy number gain	See cases [RCV000142550]	Chr2:110104900..110207160 [GRCh38] Chr2:110862477..110964737 [GRCh37] Chr2:110219766..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110371270)x3	copy number gain	See cases [RCV000148275]	Chr2:110104900..110371270 [GRCh38] Chr2:110862477..111128847 [GRCh37] Chr2:110219766..110563384 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110201550)x3	copy number gain	See cases [RCV000148241]	Chr2:110104900..110201550 [GRCh38] Chr2:110862477..110959127 [GRCh37] Chr2:110219766..110316416 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x1	copy number loss	See cases [RCV000148234]	Chr2:110104900..110207160 [GRCh38] Chr2:110862477..110964737 [GRCh37] Chr2:110219766..110322026 [NCBI36] Chr2:2q13	benign
GRCh38/hg38 2q13(chr2:110104900-110207160)x0	copy number loss	See cases [RCV000148115]	Chr2:110104900..110207160 [GRCh38] Chr2:110862477..110964737 [GRCh37] Chr2:110219766..110322026 [NCBI36] Chr2:2q13	pathogenic
GRCh38/hg38 2q13(chr2:110025659-110207160)x1	copy number loss	See cases [RCV000148185]	Chr2:110025659..110207160 [GRCh38] Chr2:110783236..110964737 [GRCh37] Chr2:110140525..110322026 [NCBI36] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110504318-110973419)x1	copy number loss	See cases [RCV000449066]	Chr2:110504318..110973419 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3	copy number gain	not provided [RCV000762743]	Chr2:109300532..110862536 [GRCh37] Chr2:2q12.3-13	uncertain significance
Single allele	duplication	Autism spectrum disorder [RCV000208724]	Chr2:109696399..110327308 [GRCh38] Chr2:110453976..111084885 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	copy number loss	See cases [RCV000240053]	Chr2:106423310..115054828 [GRCh37] Chr2:2q12.2-14.1	pathogenic
GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	copy number loss	See cases [RCV000240485]	Chr2:109798247..125658380 [GRCh37] Chr2:2q12.3-14.3	pathogenic
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	copy number loss	See cases [RCV000240490]	Chr2:109556627..117570152 [GRCh37] Chr2:2q12.3-14.1	pathogenic
GRCh37/hg19 2q13(chr2:110852875-111398472)x1	copy number loss	See cases [RCV000598664]	Chr2:110852875..111398472 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110824957-110983703)	copy number loss	Hereditary liability to pressure palsies [RCV000767555]	Chr2:110824957..110983703 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110849222-110985515)x3	copy number gain	not provided [RCV000753086]	Chr2:110849222..110985515 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110852875-110982530)x3	copy number gain	not provided [RCV000753089]	Chr2:110852875..110982530 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110873834-111365996)x1	copy number loss	See cases [RCV000449334]	Chr2:110873834..111365996 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980295)x1	copy number loss	See cases [RCV000449362]	Chr2:110873834..110980295 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110873467-110966643)x1	copy number loss	See cases [RCV000449465]	Chr2:110873467..110966643 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110873834-110983418)x1	copy number loss	See cases [RCV000449482]	Chr2:110873834..110983418 [GRCh37] Chr2:2q13	conflicting data from submitters
GRCh37/hg19 2q13(chr2:110873834-110983417)x3	copy number gain	See cases [RCV000449243]	Chr2:110873834..110983417 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110983418)x1	copy number loss	See cases [RCV000446820]	Chr2:110504318..110983418 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110824256-110983417)x1	copy number loss	See cases [RCV000447289]	Chr2:110824256..110983417 [GRCh37] Chr2:2q13	conflicting data from submitters
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4	copy number gain	See cases [RCV000446842]	Chr2:95327499..111370025 [GRCh37] Chr2:2q11.1-13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980345)x3	copy number gain	See cases [RCV000446857]	Chr2:110873834..110980345 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983417)x1	copy number loss	See cases [RCV000446909]	Chr2:110873834..110983417 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3	copy number gain	See cases [RCV000446992]	Chr2:108526025..110876776 [GRCh37] Chr2:2q12.3-13	uncertain significance
GRCh37/hg19 2q13(chr2:110496601-110983418)x3	copy number gain	See cases [RCV000446128]	Chr2:110496601..110983418 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110825177-110983417)x1	copy number loss	See cases [RCV000446418]	Chr2:110825177..110983417 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110497990-111400649)x3	copy number gain	See cases [RCV000447601]	Chr2:110497990..111400649 [GRCh37] Chr2:2q13	likely benign
GRCh37/hg19 2q13(chr2:110873992-110966643)x1	copy number loss	See cases [RCV000446169]	Chr2:110873992..110966643 [GRCh37] Chr2:2q13	benign\|likely benign
GRCh37/hg19 2q13(chr2:110873834-110980107)x3	copy number gain	See cases [RCV000447626]	Chr2:110873834..110980107 [GRCh37] Chr2:2q13	conflicting data from submitters
GRCh37/hg19 2q13(chr2:110825177-110983418)x1	copy number loss	See cases [RCV000445735]	Chr2:110825177..110983418 [GRCh37] Chr2:2q13	uncertain significance
Single allele	deletion	Cone dystrophy [RCV000505010]	Chr2:110095946..110226893 [GRCh38] Chr2:110853523..110984470 [GRCh37] Chr2:2q13	likely pathogenic
GRCh37/hg19 2q13(chr2:110504318-111365996)x1	copy number loss	See cases [RCV000445912]	Chr2:110504318..111365996 [GRCh37] Chr2:2q13	conflicting data from submitters
GRCh37/hg19 2q13(chr2:110504318-111370025)x3	copy number gain	See cases [RCV000446018]	Chr2:110504318..111370025 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110983418)x3	copy number gain	See cases [RCV000447874]	Chr2:110873834..110983418 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110504318-110980108)x1	copy number loss	See cases [RCV000448720]	Chr2:110504318..110980108 [GRCh37] Chr2:2q13	likely pathogenic
GRCh37/hg19 2q13(chr2:110824256-110983417)x3	copy number gain	See cases [RCV000448881]	Chr2:110824256..110983417 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110498141-110983418)x3	copy number gain	See cases [RCV000448038]	Chr2:110498141..110983418 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110873834-111365996)x3	copy number gain	See cases [RCV000447941]	Chr2:110873834..111365996 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110873834-110980346)x3	copy number gain	See cases [RCV000448568]	Chr2:110873834..110980346 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110504318-111365996)x3	copy number gain	See cases [RCV000448330]	Chr2:110504318..111365996 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q13(chr2:110862477-110980401)x1	copy number loss	not provided [RCV000585101]	Chr2:110862477..110980401 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	copy number loss	PARP Inhibitor response [RCV000626436]	Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3	drug response
Single allele	inversion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2q13(chr2:110504318-111622976)x3	copy number gain	not provided [RCV000682117]	Chr2:110504318..111622976 [GRCh37] Chr2:2q13	likely benign
Single allele	duplication	not provided [RCV000678012]	Chr2:107096423..112235727 [GRCh37] Chr2:2q12.2-13	likely pathogenic
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1	copy number loss	not provided [RCV000682152]	Chr2:107020782..111365996 [GRCh37] Chr2:2q12.2-13	likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	copy number gain	not provided [RCV000682168]	Chr2:96353030..114045463 [GRCh37] Chr2:2q11.1-13	pathogenic
GRCh37/hg19 2q13(chr2:110844047-110985515)x3	copy number gain	not provided [RCV000753085]	Chr2:110844047..110985515 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110873834-110988707)x1	copy number loss	not provided [RCV000845667]	Chr2:110873834..110988707 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110852875-110989364)x3	copy number gain	not provided [RCV000753090]	Chr2:110852875..110989364 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110843108-110982530)x1	copy number loss	not provided [RCV000753083]	Chr2:110843108..110982530 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110852875-110980346)x3	copy number gain	not provided [RCV000753087]	Chr2:110852875..110980346 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110852875-110982530)x1	copy number loss	not provided [RCV000753088]	Chr2:110852875..110982530 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110852875-111183762)x1	copy number loss	not provided [RCV000753091]	Chr2:110852875..111183762 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q13(chr2:110844047-110982530)x1	copy number loss	not provided [RCV000753084]	Chr2:110844047..110982530 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110854766-110990943)x3	copy number gain	not provided [RCV000740560]	Chr2:110854766..110990943 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110863095-110985515)x3	copy number gain	not provided [RCV000740561]	Chr2:110863095..110985515 [GRCh37] Chr2:2q13	benign
GRCh37/hg19 2q13(chr2:110863095-111183762)x1	copy number loss	not provided [RCV000740562]	Chr2:110863095..111183762 [GRCh37] Chr2:2q13	likely benign
NC_000002.12:g.(?_110091603)_(110161697_?)dup	duplication	Nephronophthisis [RCV001033031]	Chr2:110849180..110919274 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845687]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110862477-110983703)	copy number loss	Nephronophthisis 1 [RCV000767832]	Chr2:110862477..110983703 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845727]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845741]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845789]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000848964]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849030]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849448]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849876]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980295)x1	copy number loss	not provided [RCV000848739]	Chr2:110863827..110980295 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000848384]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849111]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849128]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849918]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849924]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000848137]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849645]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849935]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849728]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000848529]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849223]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849795]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110852804-110980919)x1	copy number loss	not provided [RCV000849812]	Chr2:110852804..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847554]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847587]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846484]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846488]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846753]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846867]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846992]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1	copy number loss	not provided [RCV000845995]	Chr2:110873834..110982217 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1	copy number loss	not provided [RCV000847401]	Chr2:110863827..110982217 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110986712)x1	copy number loss	not provided [RCV000846085]	Chr2:110863827..110986712 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846994]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846258]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845935]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849131]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1	copy number loss	not provided [RCV000848197]	Chr2:110873834..110983418 [GRCh37] Chr2:2q13	uncertain significance
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849179]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000848731]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110982217)x1	copy number loss	not provided [RCV000848826]	Chr2:110873834..110982217 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847965]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849807]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110973315)x1	copy number loss	not provided [RCV000846368]	Chr2:110873834..110973315 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000848410]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849370]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847227]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849991]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110975253)x1	copy number loss	not provided [RCV000849996]	Chr2:110873834..110975253 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1	copy number loss	not provided [RCV000847402]	Chr2:110863827..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847521]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849509]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000849554]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1	copy number loss	not provided [RCV000850026]	Chr2:110863827..110982217 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110983418)x1	copy number loss	not provided [RCV000846093]	Chr2:110873834..110983418 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000846001]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845665]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845821]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847496]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110982217)x1	copy number loss	not provided [RCV000847732]	Chr2:110863827..110982217 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110873834-110980919)x1	copy number loss	not provided [RCV000847199]	Chr2:110873834..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000847243]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1	copy number loss	not provided [RCV000845605]	Chr2:110863827..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110863827-110980919)x1	copy number loss	not provided [RCV000845702]	Chr2:110863827..110980919 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q13(chr2:110871508-110980919)x1	copy number loss	not provided [RCV000845626]	Chr2:110871508..110980919 [GRCh37] Chr2:2q13	pathogenic
NC_000002.12:g.(?_110091603)_(110204968_?)del	deletion	Nephronophthisis [RCV001031333]	Chr2:110849180..110962545 [GRCh37] Chr2:2q13	pathogenic
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	copy number loss	not provided [RCV001259645]	Chr2:107029680..113187742 [GRCh37] Chr2:2q12.2-13	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:6818	AgrOrtholog
COSMIC	MALL	COSMIC
Ensembl Genes	ENSG00000144063	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000272462	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000394792	UniProtKB/TrEMBL
	ENSP00000400518	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000272462	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000424988	UniProtKB/TrEMBL
	ENST00000427178	UniProtKB/TrEMBL
GTEx	ENSG00000144063	GTEx
HGNC ID	HGNC:6818	ENTREZGENE
Human Proteome Map	MALL	Human Proteome Map
InterPro	MAL	UniProtKB/Swiss-Prot
	Marvel	UniProtKB/Swiss-Prot
KEGG Report	hsa:7851	UniProtKB/Swiss-Prot
NCBI Gene	7851	ENTREZGENE
OMIM	602022	OMIM
Pfam	MARVEL	UniProtKB/Swiss-Prot
PharmGKB	PA30567	PharmGKB
PRINTS	MALPROTEIN	UniProtKB/Swiss-Prot
PROSITE	MARVEL	UniProtKB/Swiss-Prot
UniGene	Hs.185055	ENTREZGENE
UniProt	C9IZ55_HUMAN	UniProtKB/TrEMBL
	F8WE57_HUMAN	UniProtKB/TrEMBL
	MALL_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B3KWR6	UniProtKB/Swiss-Prot
	Q9BTU0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-12-19	MALL	mal, T cell differentiation protein like		mal, T-cell differentiation protein like	Symbol and/or name change	5135510	APPROVED
2016-05-10	MALL	mal, T-cell differentiation protein like		mal, T-cell differentiation protein-like	Symbol and/or name change	5135510	APPROVED
2011-09-01	MALL	mal, T-cell differentiation protein-like	MALL	mal, T-cell differentiation protein-like	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