SEMA7A (semaphorin 7A (John Milton Hagen blood group))

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Gene: SEMA7A (semaphorin 7A (John Milton Hagen blood group)) Homo sapiens

Analyze

Symbol:

SEMA7A

Name:

semaphorin 7A (John Milton Hagen blood group)

RGD ID:

1313074

HGNC Page

HGNC

Description:

Predicted to have chemorepellent activity; integrin binding activity; and semaphorin receptor binding activity. Involved in integrin-mediated signaling pathway; positive regulation of ERK1 and ERK2 cascade; and positive regulation of axon extension. Localizes to membrane. Colocalizes with collagen-containing extracellular matrix.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

CD108; CDw108; H-SEMA-K1; H-Sema-L; JMH; JMH blood group antigen; John Milton Hagen blood group H-Sema K1; john-Milton-Hargen human blood group Ag; MGC126692; MGC126696; sema domain, immunoglobulin domain (ig), and gpi membrane anchor, (semaphorin) 7a; sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group); sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A; sema K1; sema L; SEMAK1; SEMAL; semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group); semaphorin K1; semaphorin L; semaphorin-7A; semaphorin-K1; semaphorin-L

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	15	74,409,289 - 74,433,958 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	15	74,409,289 - 74,433,958 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	15	74,701,630 - 74,726,299 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	72,489,376 - 72,513,329 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	15	72,489,375 - 72,513,329	NCBI
Celera	15	51,648,857 - 51,673,527 (-)	NCBI
Cytogenetic Map	15	q24.1	NCBI
HuRef	15	51,497,440 - 51,522,110 (-)	NCBI		HuRef
CHM1_1	15	74,819,747 - 74,844,422 (-)	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

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

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

2,4-diaminotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3,3',5,5'-tetrabromobisphenol A (ISO)

3,4-methylenedioxymethamphetamine (ISO)

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

3-methylcholanthrene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

Brodifacoum (ISO)

buta-1,3-diene (ISO)

butanal (EXP)

C60 fullerene (ISO)

carbon nanotube (ISO)

chloroprene (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

cocaine (ISO)

dexamethasone (EXP,ISO)

diarsenic trioxide (EXP)

diazinon (EXP)

doxorubicin (EXP)

fluoranthene (ISO)

formaldehyde (EXP)

indometacin (EXP)

leflunomide (EXP)

methotrexate (EXP)

microcystin (ISO)

naphthalene (ISO)

nickel sulfate (EXP)

ozone (ISO)

potassium chromate (EXP)

potassium dichromate (EXP)

rac-lactic acid (EXP)

silicon dioxide (EXP)

sodium arsenate (ISO)

succimer (ISO)

sulforaphane (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thyroxine (ISO)

titanium dioxide (ISO)

triclosan (EXP)

troglitazone (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

axon extension (IEA,ISO)

axon guidance (IBA)

cell differentiation (IEA)

immune response (TAS)

inflammatory response (IEA)

integrin-mediated signaling pathway (IBA,IDA)

negative chemotaxis (IBA)

negative regulation of axon extension involved in axon guidance (IBA)

nervous system development (IEA)

neural crest cell migration (IBA)

neuron projection development (ISO)

olfactory lobe development (IEA,ISO)

osteoblast differentiation (HDA)

positive regulation of axon extension (IBA,IDA,ISO)

positive regulation of cell migration (IBA)

positive regulation of ERK1 and ERK2 cascade (IBA,IDA)

positive regulation of macrophage cytokine production (IBA,ISS)

positive regulation of protein phosphorylation (IEA,ISO)

regulation of inflammatory response (IBA,ISS)

semaphorin-plexin signaling pathway (IBA)

Cellular Component

anchored component of membrane (IEA)

collagen-containing extracellular matrix (HDA)

external side of plasma membrane (IBA,ISS)

extracellular space (IBA)

integral component of plasma membrane (IBA)

membrane (HDA,IEA)

plasma membrane (TAS)

Molecular Function

chemorepellent activity (IBA)

integrin binding (IBA)

protein binding (IPI)

semaphorin receptor binding (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline
3.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9712866	PMID:9721204	PMID:10201933	PMID:10416131	PMID:10520995	PMID:10885563	PMID:12193228	PMID:12477932	PMID:12879062	PMID:14702039	PMID:15489334	PMID:15907379
PMID:16199891	PMID:16210410	PMID:16344560	PMID:16372136	PMID:17207242	PMID:17377534	PMID:17474147	PMID:17485510	PMID:17671519	PMID:18422858	PMID:18987670	PMID:19318806
PMID:20727575	PMID:20854351	PMID:21524887	PMID:21873635	PMID:22448926	PMID:22837378	PMID:22845496	PMID:22891341	PMID:23166499	PMID:23850082	PMID:24333536	PMID:24522099
PMID:25275127	PMID:25406498	PMID:26432853	PMID:26597008	PMID:26752048	PMID:27065336	PMID:28109308	PMID:28327460	PMID:28336906	PMID:28514442	PMID:29269512	PMID:29478914
PMID:29509252	PMID:30254150	PMID:30729666	PMID:31016720	PMID:31394943	PMID:31732974	PMID:32161256	PMID:32313230

Genomics

Comparative Map Data

SEMA7A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	15	74,409,289 - 74,433,958 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	15	74,409,289 - 74,433,958 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	15	74,701,630 - 74,726,299 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	72,489,376 - 72,513,329 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	15	72,489,375 - 72,513,329	NCBI
Celera	15	51,648,857 - 51,673,527 (-)	NCBI
Cytogenetic Map	15	q24.1	NCBI
HuRef	15	51,497,440 - 51,522,110 (-)	NCBI		HuRef
CHM1_1	15	74,819,747 - 74,844,422 (-)	NCBI		CHM1_1

Sema7a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	57,846,879 - 57,870,148 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	9	57,847,395 - 57,870,148 (+)	Ensembl
GRCm38	9	57,939,596 - 57,962,865 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	57,940,112 - 57,962,865 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	57,787,942 - 57,810,672 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	9	57,738,272 - 57,761,002 (+)	NCBI			mm8
Celera	9	55,172,627 - 55,195,358 (+)	NCBI		Celera
Cytogenetic Map	9	B	NCBI

Sema7a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	8	58,348,448 - 58,370,536 (+)	NCBI
Rnor_6.0 Ensembl	8	62,723,788 - 62,745,868 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	8	62,723,788 - 62,746,530 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	8	62,499,077 - 62,521,157 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	61,717,449 - 61,739,529 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	8	61,736,491 - 61,759,245 (+)	NCBI
Celera	8	57,812,746 - 57,834,816 (+)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

Sema7a
(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_004955450	3,401,777 - 3,423,363 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	3,401,732 - 3,424,547 (+)	NCBI	ChiLan1.0	ChiLan1.0

SEMA7A
(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	15	72,972,475 - 72,996,987 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	72,972,475 - 72,996,953 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	15	53,351,662 - 53,376,327 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

SEMA7A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	37,531,986 - 37,547,650 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	37,531,971 - 37,566,645 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	37,466,091 - 37,488,072 (-)	NCBI
ROS_Cfam_1.0	30	37,737,728 - 37,759,702 (-)	NCBI
UMICH_Zoey_3.1	30	37,690,238 - 37,712,193 (-)	NCBI
UNSW_CanFamBas_1.0	30	37,715,461 - 37,737,421 (-)	NCBI
UU_Cfam_GSD_1.0	30	37,971,301 - 37,993,275 (-)	NCBI

Sema7a
(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_ltri_2	NW_024408640	115,582,526 - 115,606,288 (-)	NCBI
SpeTri2.0	NW_004936471	33,430,589 - 33,454,353 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SEMA7A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	59,094,932 - 59,119,534 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	59,094,919 - 59,119,534 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SEMA7A
(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	26	9,039,774 - 9,063,700 (+)	NCBI

Sema7a
(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_004624781	221,821 - 244,854 (+)	NCBI

Position Markers

SEMA7A_817

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	74,702,303 - 74,703,172	UniSTS	GRCh37
Build 36	15	72,489,356 - 72,490,225	RGD	NCBI36
Celera	15	51,649,531 - 51,650,400	RGD
HuRef	15	51,498,114 - 51,498,983	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2526
Count of miRNA genes:	786
Interacting mature miRNAs:	922
Transcripts:	ENST00000261918, ENST00000542748, ENST00000543145, ENST00000567345, ENST00000569617
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

174

125

1007

1624

2187

670

363

1039

Low

2243

2661

1557

517

912

358

2649

1988

1528

327

790

1225

162

1185

1668

Below cutoff

205

171

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001146029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001146030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003612	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC012435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF030697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF030698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF069493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF071542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI972833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM180451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY885237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF792612	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU191525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA136330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA232032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA815098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC408557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MT017654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000261918 ⟹ ENSP00000261918

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	15	74,409,289 - 74,433,958 (-)	Ensembl

RefSeq Acc Id:

ENST00000542748 ⟹ ENSP00000441493

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	15	74,410,026 - 74,433,704 (-)	Ensembl

RefSeq Acc Id:

ENST00000543145 ⟹ ENSP00000438966

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	15	74,410,316 - 74,433,955 (-)	Ensembl

RefSeq Acc Id:

ENST00000569617

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	15	74,410,968 - 74,411,639 (-)	Ensembl

RefSeq Acc Id:

NM_001146029 ⟹ NP_001139501

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	74,409,289 - 74,433,958 (-)	NCBI
GRCh37	15	74,701,630 - 74,726,299 (-)	ENTREZGENE
HuRef	15	51,497,440 - 51,522,110 (-)	ENTREZGENE
CHM1_1	15	74,819,747 - 74,844,422 (-)	NCBI

Sequence:

show sequence

CAGTCTCGGCTGATTGCCGCTGTCGCTCCCGGGGCCACGGGATGACGCCTCCTCCGCCCGGACG
TGCCGCCCCCAGCGCACCGCGCGCCCGCGTCCCTGGCCCGCCGGCTCGGTTGGGGCTTCCGCTG
CGGCTGCGGCTGCTGCTGCTGCTCTGGGCGGCCGCCGCCTCCGCCCAGGGCCACCTAAGGAGCG
GACCCCGCATCTTCGCCGTCTGGAAAGGCCATGTAGGGCAGGACCGGGTGGACTTTGGCCAGAC
TGAGCCGCACACGGTGCTTTTCCACGAGCCAGGCAGCTCCTCTGTGTGGGTGGGAGGACGTGGC
AAGGTCTACCTCTTTGACTTCCCCGAGGGCAAGAACGCATCTGTGCGCACGGACTGCGAGAACT
ACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCC
CAGCTGCTGGAACCTGGTGAATGGCACTGTGGTGCCACTTGGCGAGATGAGAGGCTACGCCCCC
TTCAGCCCGGACGAGAACTCCCTGGTTCTGTTTGAAGGGGACGAGGTGTATTCCACCATCCGGA
AGCAGGAATACAATGGGAAGATCCCTCGGTTCCGCCGCATCCGGGGCGAGAGTGAGCTGTACAC
CAGTGATACTGTCATGCAGAACCCACAGTTCATCAAAGCCACCATCGTGCACCAAGACCAGGCT
TACGATGACAAGATCTACTACTTCTTCCGAGAGGACAATCCTGACAAGAATCCTGAGGCTCCTC
TCAATGTGTCCCGTGTGGCCCAGTTGTGCAGGGGGGACCAGGGTGGGGAAAGTTCACTGTCAGT
CTCCAAGTGGAACACTTTTCTGAAAGCCATGCTGGTATGCAGTGATGCTGCCACCAACAAGAAC
TTCAACAGGCTGCAAGACGTCTTCCTGCTCCCTGACCCCAGCGGCCAGTGGAGGGACACCAGGG
TCTATGGTGTTTTCTCCAACCCCTGGAACTACTCAGCCGTCTGTGTGTATTCCCTCGGTGACAT
TGACAAGGTCTTCCGTACCTCCTCACTCAAGGGCTACCACTCAAGCCTTCCCAACCCGCGGCCT
GGCAAGTGCCTCCCAGACCAGCAGCCGATACCCACAGAGACCTTCCAGGTGGCTGACCGTCACC
CAGAGGTGGCGCAGAGGGTGGAGCCCATGGGGCCTCTGAAGACGCCATTGTTCCACTCTAAATA
CCACTACCAGAAAGTGGCCGTCCACCGCATGCAAGCCAGCCACGGGGAGACCTTTCATGTGCTT
TACCTAACTACAGACAGGGGCACTATCCACAAGGTGGTGGAACCGGGGGAGCAGGAGCACAGCT
TCGCCTTCAACATCATGGAGATCCAGCCCTTCCGCCGCGCGGCTGCCATCCAGACCATGTCGCT
GGATGCTGAGCGGAGGAAGCTGTATGTGAGCTCCCAGTGGGAGGTGAGCCAGGTGCCCCTGGAC
CTGTGTGAGGTCTATGGCGGGGGCTGCCACGGTTGCCTCATGTCCCGAGACCCCTACTGCGGCT
GGGACCAAGGCCGCTGCATCTCCATCTACAGCTCCGAACGGTCAGTGCTGCAATCCATTAATCC
AGCCGAGCCACACAAGGAGTGTCCCAACCCCAAACCAGACAAGGCCCCACTGCAGAAGGTTTCC
CTGGCCCCAAACTCTCGCTACTACCTGAGCTGCCCCATGGAATCCCGCCACGCCACCTACTCAT
GGCGCCACAAGGAGAACGTGGAGCAGAGCTGCGAACCTGGTCACCAGAGCCCCAACTGCATCCT
GTTCATCGAGAACCTCACGGCGCAGCAGTACGGCCACTACTTCTGCGAGGCCCAGGAGGGCTCC
TACTTCCGCGAGGCTCAGCACTGGCAGCTGCTGCCCGAGGACGGCATCATGGCCGAGCACCTGC
TGGGTCATGCCTGTGCCCTGGCCGCCTCCCTCTGGCTGGGGGTGCTGCCCACACTCACTCTTGG
CTTGCTGGTCCACTAGGGCCTCCCGAGGCTGGGCATGCCTCAGGCTTCTGCAGCCCAGGGCACT
AGAACGTCTCACACTCAGAGCCGGCTGGCCCGGGAGCTCCTTGCCTGCCACTTCTTCCAGGGGA
CAGAATAACCCAGTGGAGGATGCCAGGCCTGGAGACGTCCAGCCGCAGGCGGCTGCTGGGCCCC
AGGTGGCGCACGGATGGTGAGGGGCTGAGAATGAGGGCACCGACTGTGAAGCTGGGGCATCGAT
GACCCAAGACTTTATCTTCTGGAAAATATTTTTCAGACTCCTCAAACTTGACTAAATGCAGCGA
TGCTCCCAGCCCAAGAGCCCATGGGTCGGGGAGTGGGTTTGGATAGGAGAGCTGGGACTCCATC
TCGACCCTGGGGCTGAGGCCTGAGTCCTTCTGGACTCTTGGTACCCACATTGCCTCCTTCCCCT
CCCTCTCTCATGGCTGGGTGGCTGGTGTTCCTGAAGACCCAGGGCTACCCTCTGTCCAGCCCTG
TCCTCTGCAGCTCCCTCTCTGGTCCTGGGTCCCACAGGACAGCCGCCTTGCATGTTTATTGAAG
GATGTTTGCTTTCCGGACGGAAGGACGGAAAAAGCTCTATTTTTATGTTAGGCTTATTTCATGT
ATAGCTACTTCCGACTGCATCTGTATGAAAATACCAAAACTACATGCGGGGGGGTGGGTGGGAA
AGGGAGGGGCTGGGAAGGGATGGGTTGGGGAGCGGGGGTGATCCCAGTCTGAGGCTCCCGGGGA
TGAGATAAGAGTCTGGAGACGGGCATGGGTTCTTGGAGAGTGGCATGAGCTGGCTCTGCCCTGG
GAGCCCGGTCTGAGGGGGACGTTGTTGGAGCCCCTAGTGTTGGGGGTGGTTATGGGAGGGGGTG
GGGTGAGGGAAACGGGAGAATGAAGGAGAAAACTGAGCCCTAGTTTCACCGTGTTCATTTGGAA
GGACGAGCCGGGTCCTCAGGGGGAGGTTCCAGGACTCTGCCCTTGGCGTTGAGGGTTGGGGGGC
GGGGGGCCTCCTCCCTTCCTCTCAGCCCCCTTCCCCAGGGGCTGTGCTTCCATGCTCCTAGCCT
CCCACCTTCGCTCAGGACATGTTATAACTTAGGCTAAACTGTGAAAATTCCGGTGGGGATGGCC
TGGGCCGAGCTCTCCAGGCAGGCGGCCCTGCCCCCAGCCCTGTCCATCCATTTCAGGGGGGAGC
TGGGCCCTTCTCCGGCTGTGTCTGGCCACCCAGGGCAGTGGCTGGGGCCAGTGGCCTTCCAGCT
TTGGCCCCTGCACCTCTTCTCAATGCACTTTAATAATGTAACATATTACTAATAAACAAGCTAT
TTATTTACCTGCAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001146030 ⟹ NP_001139502

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	74,409,289 - 74,433,704 (-)	NCBI
GRCh37	15	74,701,630 - 74,726,299 (-)	ENTREZGENE
HuRef	15	51,497,440 - 51,522,110 (-)	ENTREZGENE
CHM1_1	15	74,819,747 - 74,844,167 (-)	NCBI

Sequence:

show sequence

AGACGCTGCGCGGGGCGGGTGCGGAGTGTGCTGCACCCGGAGGGAGTGCGTGCGCGCAGCTCTG
CGGGTCCCGGGCTGTCCCCGCGCTGTCCCCGCGTGGAGCGTGTGGGTTTGGGCCATGTAGGGCA
GGACCGGGTGGACTTTGGCCAGACTGAGCCGCACACGGTGCTTTTCCACGAGCCAGGCAGCTCC
TCTGTGTGGGTGGGAGGACGTGGCAAGGTCTACCTCTTTGACTTCCCCGAGGGCAAGAACGCAT
CTGTGCGCACGGTGAATATCGGCTCCACAAAGGGGTCCTGTCTGGATAAGCGGGACTGCGAGAA
CTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCAC
CCCAGCTGCTGGAACCTGGTGAATGGCACTGTGGTGCCACTTGGCGAGATGAGAGGCTACGCCC
CCTTCAGCCCGGACGAGAACTCCCTGGTTCTGTTTGAAGGGGACGAGGTGTATTCCACCATCCG
GAAGCAGGAATACAATGGGAAGATCCCTCGGTTCCGCCGCATCCGGGGCGAGAGTGAGCTGTAC
ACCAGTGATACTGTCATGCAGAACCCACAGTTCATCAAAGCCACCATCGTGCACCAAGACCAGG
CTTACGATGACAAGATCTACTACTTCTTCCGAGAGGACAATCCTGACAAGAATCCTGAGGCTCC
TCTCAATGTGTCCCGTGTGGCCCAGTTGTGCAGGGGGGACCAGGGTGGGGAAAGTTCACTGTCA
GTCTCCAAGTGGAACACTTTTCTGAAAGCCATGCTGGTATGCAGTGATGCTGCCACCAACAAGA
ACTTCAACAGGCTGCAAGACGTCTTCCTGCTCCCTGACCCCAGCGGCCAGTGGAGGGACACCAG
GGTCTATGGTGTTTTCTCCAACCCCTGGAACTACTCAGCCGTCTGTGTGTATTCCCTCGGTGAC
ATTGACAAGGTCTTCCGTACCTCCTCACTCAAGGGCTACCACTCAAGCCTTCCCAACCCGCGGC
CTGGCAAGTGCCTCCCAGACCAGCAGCCGATACCCACAGAGACCTTCCAGGTGGCTGACCGTCA
CCCAGAGGTGGCGCAGAGGGTGGAGCCCATGGGGCCTCTGAAGACGCCATTGTTCCACTCTAAA
TACCACTACCAGAAAGTGGCCGTCCACCGCATGCAAGCCAGCCACGGGGAGACCTTTCATGTGC
TTTACCTAACTACAGACAGGGGCACTATCCACAAGGTGGTGGAACCGGGGGAGCAGGAGCACAG
CTTCGCCTTCAACATCATGGAGATCCAGCCCTTCCGCCGCGCGGCTGCCATCCAGACCATGTCG
CTGGATGCTGAGCGGAGGAAGCTGTATGTGAGCTCCCAGTGGGAGGTGAGCCAGGTGCCCCTGG
ACCTGTGTGAGGTCTATGGCGGGGGCTGCCACGGTTGCCTCATGTCCCGAGACCCCTACTGCGG
CTGGGACCAAGGCCGCTGCATCTCCATCTACAGCTCCGAACGGTCAGTGCTGCAATCCATTAAT
CCAGCCGAGCCACACAAGGAGTGTCCCAACCCCAAACCAGACAAGGCCCCACTGCAGAAGGTTT
CCCTGGCCCCAAACTCTCGCTACTACCTGAGCTGCCCCATGGAATCCCGCCACGCCACCTACTC
ATGGCGCCACAAGGAGAACGTGGAGCAGAGCTGCGAACCTGGTCACCAGAGCCCCAACTGCATC
CTGTTCATCGAGAACCTCACGGCGCAGCAGTACGGCCACTACTTCTGCGAGGCCCAGGAGGGCT
CCTACTTCCGCGAGGCTCAGCACTGGCAGCTGCTGCCCGAGGACGGCATCATGGCCGAGCACCT
GCTGGGTCATGCCTGTGCCCTGGCCGCCTCCCTCTGGCTGGGGGTGCTGCCCACACTCACTCTT
GGCTTGCTGGTCCACTAGGGCCTCCCGAGGCTGGGCATGCCTCAGGCTTCTGCAGCCCAGGGCA
CTAGAACGTCTCACACTCAGAGCCGGCTGGCCCGGGAGCTCCTTGCCTGCCACTTCTTCCAGGG
GACAGAATAACCCAGTGGAGGATGCCAGGCCTGGAGACGTCCAGCCGCAGGCGGCTGCTGGGCC
CCAGGTGGCGCACGGATGGTGAGGGGCTGAGAATGAGGGCACCGACTGTGAAGCTGGGGCATCG
ATGACCCAAGACTTTATCTTCTGGAAAATATTTTTCAGACTCCTCAAACTTGACTAAATGCAGC
GATGCTCCCAGCCCAAGAGCCCATGGGTCGGGGAGTGGGTTTGGATAGGAGAGCTGGGACTCCA
TCTCGACCCTGGGGCTGAGGCCTGAGTCCTTCTGGACTCTTGGTACCCACATTGCCTCCTTCCC
CTCCCTCTCTCATGGCTGGGTGGCTGGTGTTCCTGAAGACCCAGGGCTACCCTCTGTCCAGCCC
TGTCCTCTGCAGCTCCCTCTCTGGTCCTGGGTCCCACAGGACAGCCGCCTTGCATGTTTATTGA
AGGATGTTTGCTTTCCGGACGGAAGGACGGAAAAAGCTCTATTTTTATGTTAGGCTTATTTCAT
GTATAGCTACTTCCGACTGCATCTGTATGAAAATACCAAAACTACATGCGGGGGGGTGGGTGGG
AAAGGGAGGGGCTGGGAAGGGATGGGTTGGGGAGCGGGGGTGATCCCAGTCTGAGGCTCCCGGG
GATGAGATAAGAGTCTGGAGACGGGCATGGGTTCTTGGAGAGTGGCATGAGCTGGCTCTGCCCT
GGGAGCCCGGTCTGAGGGGGACGTTGTTGGAGCCCCTAGTGTTGGGGGTGGTTATGGGAGGGGG
TGGGGTGAGGGAAACGGGAGAATGAAGGAGAAAACTGAGCCCTAGTTTCACCGTGTTCATTTGG
AAGGACGAGCCGGGTCCTCAGGGGGAGGTTCCAGGACTCTGCCCTTGGCGTTGAGGGTTGGGGG
GCGGGGGGCCTCCTCCCTTCCTCTCAGCCCCCTTCCCCAGGGGCTGTGCTTCCATGCTCCTAGC
CTCCCACCTTCGCTCAGGACATGTTATAACTTAGGCTAAACTGTGAAAATTCCGGTGGGGATGG
CCTGGGCCGAGCTCTCCAGGCAGGCGGCCCTGCCCCCAGCCCTGTCCATCCATTTCAGGGGGGA
GCTGGGCCCTTCTCCGGCTGTGTCTGGCCACCCAGGGCAGTGGCTGGGGCCAGTGGCCTTCCAG
CTTTGGCCCCTGCACCTCTTCTCAATGCACTTTAATAATGTAACATATTACTAATAAACAAGCT
ATTTATTTACCTGCAAAAAAA

hide sequence

RefSeq Acc Id:

NM_003612 ⟹ NP_003603

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	74,409,289 - 74,433,958 (-)	NCBI
GRCh37	15	74,701,630 - 74,726,299 (-)	ENTREZGENE
Build 36	15	72,489,376 - 72,513,329 (-)	NCBI Archive
HuRef	15	51,497,440 - 51,522,110 (-)	ENTREZGENE
CHM1_1	15	74,819,747 - 74,844,422 (-)	NCBI

Sequence:

show sequence

CAGTCTCGGCTGATTGCCGCTGTCGCTCCCGGGGCCACGGGATGACGCCTCCTCCGCCCGGACG
TGCCGCCCCCAGCGCACCGCGCGCCCGCGTCCCTGGCCCGCCGGCTCGGTTGGGGCTTCCGCTG
CGGCTGCGGCTGCTGCTGCTGCTCTGGGCGGCCGCCGCCTCCGCCCAGGGCCACCTAAGGAGCG
GACCCCGCATCTTCGCCGTCTGGAAAGGCCATGTAGGGCAGGACCGGGTGGACTTTGGCCAGAC
TGAGCCGCACACGGTGCTTTTCCACGAGCCAGGCAGCTCCTCTGTGTGGGTGGGAGGACGTGGC
AAGGTCTACCTCTTTGACTTCCCCGAGGGCAAGAACGCATCTGTGCGCACGGTGAATATCGGCT
CCACAAAGGGGTCCTGTCTGGATAAGCGGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCG
GAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAAT
GGCACTGTGGTGCCACTTGGCGAGATGAGAGGCTACGCCCCCTTCAGCCCGGACGAGAACTCCC
TGGTTCTGTTTGAAGGGGACGAGGTGTATTCCACCATCCGGAAGCAGGAATACAATGGGAAGAT
CCCTCGGTTCCGCCGCATCCGGGGCGAGAGTGAGCTGTACACCAGTGATACTGTCATGCAGAAC
CCACAGTTCATCAAAGCCACCATCGTGCACCAAGACCAGGCTTACGATGACAAGATCTACTACT
TCTTCCGAGAGGACAATCCTGACAAGAATCCTGAGGCTCCTCTCAATGTGTCCCGTGTGGCCCA
GTTGTGCAGGGGGGACCAGGGTGGGGAAAGTTCACTGTCAGTCTCCAAGTGGAACACTTTTCTG
AAAGCCATGCTGGTATGCAGTGATGCTGCCACCAACAAGAACTTCAACAGGCTGCAAGACGTCT
TCCTGCTCCCTGACCCCAGCGGCCAGTGGAGGGACACCAGGGTCTATGGTGTTTTCTCCAACCC
CTGGAACTACTCAGCCGTCTGTGTGTATTCCCTCGGTGACATTGACAAGGTCTTCCGTACCTCC
TCACTCAAGGGCTACCACTCAAGCCTTCCCAACCCGCGGCCTGGCAAGTGCCTCCCAGACCAGC
AGCCGATACCCACAGAGACCTTCCAGGTGGCTGACCGTCACCCAGAGGTGGCGCAGAGGGTGGA
GCCCATGGGGCCTCTGAAGACGCCATTGTTCCACTCTAAATACCACTACCAGAAAGTGGCCGTC
CACCGCATGCAAGCCAGCCACGGGGAGACCTTTCATGTGCTTTACCTAACTACAGACAGGGGCA
CTATCCACAAGGTGGTGGAACCGGGGGAGCAGGAGCACAGCTTCGCCTTCAACATCATGGAGAT
CCAGCCCTTCCGCCGCGCGGCTGCCATCCAGACCATGTCGCTGGATGCTGAGCGGAGGAAGCTG
TATGTGAGCTCCCAGTGGGAGGTGAGCCAGGTGCCCCTGGACCTGTGTGAGGTCTATGGCGGGG
GCTGCCACGGTTGCCTCATGTCCCGAGACCCCTACTGCGGCTGGGACCAAGGCCGCTGCATCTC
CATCTACAGCTCCGAACGGTCAGTGCTGCAATCCATTAATCCAGCCGAGCCACACAAGGAGTGT
CCCAACCCCAAACCAGACAAGGCCCCACTGCAGAAGGTTTCCCTGGCCCCAAACTCTCGCTACT
ACCTGAGCTGCCCCATGGAATCCCGCCACGCCACCTACTCATGGCGCCACAAGGAGAACGTGGA
GCAGAGCTGCGAACCTGGTCACCAGAGCCCCAACTGCATCCTGTTCATCGAGAACCTCACGGCG
CAGCAGTACGGCCACTACTTCTGCGAGGCCCAGGAGGGCTCCTACTTCCGCGAGGCTCAGCACT
GGCAGCTGCTGCCCGAGGACGGCATCATGGCCGAGCACCTGCTGGGTCATGCCTGTGCCCTGGC
CGCCTCCCTCTGGCTGGGGGTGCTGCCCACACTCACTCTTGGCTTGCTGGTCCACTAGGGCCTC
CCGAGGCTGGGCATGCCTCAGGCTTCTGCAGCCCAGGGCACTAGAACGTCTCACACTCAGAGCC
GGCTGGCCCGGGAGCTCCTTGCCTGCCACTTCTTCCAGGGGACAGAATAACCCAGTGGAGGATG
CCAGGCCTGGAGACGTCCAGCCGCAGGCGGCTGCTGGGCCCCAGGTGGCGCACGGATGGTGAGG
GGCTGAGAATGAGGGCACCGACTGTGAAGCTGGGGCATCGATGACCCAAGACTTTATCTTCTGG
AAAATATTTTTCAGACTCCTCAAACTTGACTAAATGCAGCGATGCTCCCAGCCCAAGAGCCCAT
GGGTCGGGGAGTGGGTTTGGATAGGAGAGCTGGGACTCCATCTCGACCCTGGGGCTGAGGCCTG
AGTCCTTCTGGACTCTTGGTACCCACATTGCCTCCTTCCCCTCCCTCTCTCATGGCTGGGTGGC
TGGTGTTCCTGAAGACCCAGGGCTACCCTCTGTCCAGCCCTGTCCTCTGCAGCTCCCTCTCTGG
TCCTGGGTCCCACAGGACAGCCGCCTTGCATGTTTATTGAAGGATGTTTGCTTTCCGGACGGAA
GGACGGAAAAAGCTCTATTTTTATGTTAGGCTTATTTCATGTATAGCTACTTCCGACTGCATCT
GTATGAAAATACCAAAACTACATGCGGGGGGGTGGGTGGGAAAGGGAGGGGCTGGGAAGGGATG
GGTTGGGGAGCGGGGGTGATCCCAGTCTGAGGCTCCCGGGGATGAGATAAGAGTCTGGAGACGG
GCATGGGTTCTTGGAGAGTGGCATGAGCTGGCTCTGCCCTGGGAGCCCGGTCTGAGGGGGACGT
TGTTGGAGCCCCTAGTGTTGGGGGTGGTTATGGGAGGGGGTGGGGTGAGGGAAACGGGAGAATG
AAGGAGAAAACTGAGCCCTAGTTTCACCGTGTTCATTTGGAAGGACGAGCCGGGTCCTCAGGGG
GAGGTTCCAGGACTCTGCCCTTGGCGTTGAGGGTTGGGGGGCGGGGGGCCTCCTCCCTTCCTCT
CAGCCCCCTTCCCCAGGGGCTGTGCTTCCATGCTCCTAGCCTCCCACCTTCGCTCAGGACATGT
TATAACTTAGGCTAAACTGTGAAAATTCCGGTGGGGATGGCCTGGGCCGAGCTCTCCAGGCAGG
CGGCCCTGCCCCCAGCCCTGTCCATCCATTTCAGGGGGGAGCTGGGCCCTTCTCCGGCTGTGTC
TGGCCACCCAGGGCAGTGGCTGGGGCCAGTGGCCTTCCAGCTTTGGCCCCTGCACCTCTTCTCA
ATGCACTTTAATAATGTAACATATTACTAATAAACAAGCTATTTATTTACCTGCAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001139501	(Get FASTA)	NCBI Sequence Viewer
	NP_001139502	(Get FASTA)	NCBI Sequence Viewer
	NP_003603	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC34261	(Get FASTA)	NCBI Sequence Viewer
	AAC34741	(Get FASTA)	NCBI Sequence Viewer
	AAC80456	(Get FASTA)	NCBI Sequence Viewer
	AAC82642	(Get FASTA)	NCBI Sequence Viewer
	AAI01644	(Get FASTA)	NCBI Sequence Viewer
	AAI01648	(Get FASTA)	NCBI Sequence Viewer
	AAW62253	(Get FASTA)	NCBI Sequence Viewer
	BAG35189	(Get FASTA)	NCBI Sequence Viewer
	BAG50988	(Get FASTA)	NCBI Sequence Viewer
	BAG56808	(Get FASTA)	NCBI Sequence Viewer
	CAJ55398	(Get FASTA)	NCBI Sequence Viewer
	CAJ55399	(Get FASTA)	NCBI Sequence Viewer
	CAJ55400	(Get FASTA)	NCBI Sequence Viewer
	CAJ55401	(Get FASTA)	NCBI Sequence Viewer
	CAJ55402	(Get FASTA)	NCBI Sequence Viewer
	CAJ55403	(Get FASTA)	NCBI Sequence Viewer
	CAJ55404	(Get FASTA)	NCBI Sequence Viewer
	EAW99340	(Get FASTA)	NCBI Sequence Viewer
	O75326	(Get FASTA)	NCBI Sequence Viewer
	QPF47147	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001139501 ⟸ NM_001146029
- Peptide Label:	isoform 2 precursor
- UniProtKB:	O75326 (UniProtKB/Swiss-Prot), B3KMH6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTPPPPGRAAPSAPRARVPGPPARLGLPLRLRLLLLLWAAAASAQGHLRSGPRIFAVWKGHVGQ DRVDFGQTEPHTVLFHEPGSSSVWVGGRGKVYLFDFPEGKNASVRTDCENYITLLERRSEGLLA CGTNARHPSCWNLVNGTVVPLGEMRGYAPFSPDENSLVLFEGDEVYSTIRKQEYNGKIPRFRRI RGESELYTSDTVMQNPQFIKATIVHQDQAYDDKIYYFFREDNPDKNPEAPLNVSRVAQLCRGDQ GGESSLSVSKWNTFLKAMLVCSDAATNKNFNRLQDVFLLPDPSGQWRDTRVYGVFSNPWNYSAV CVYSLGDIDKVFRTSSLKGYHSSLPNPRPGKCLPDQQPIPTETFQVADRHPEVAQRVEPMGPLK TPLFHSKYHYQKVAVHRMQASHGETFHVLYLTTDRGTIHKVVEPGEQEHSFAFNIMEIQPFRRA AAIQTMSLDAERRKLYVSSQWEVSQVPLDLCEVYGGGCHGCLMSRDPYCGWDQGRCISIYSSER SVLQSINPAEPHKECPNPKPDKAPLQKVSLAPNSRYYLSCPMESRHATYSWRHKENVEQSCEPG HQSPNCILFIENLTAQQYGHYFCEAQEGSYFREAQHWQLLPEDGIMAEHLLGHACALAASLWLG VLPTLTLGLLVH hide sequence

RefSeq Acc Id:	NP_003603 ⟸ NM_003612
- Peptide Label:	isoform 1 preproprotein
- UniProtKB:	O75326 (UniProtKB/Swiss-Prot), B3KMH6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTPPPPGRAAPSAPRARVPGPPARLGLPLRLRLLLLLWAAAASAQGHLRSGPRIFAVWKGHVGQ DRVDFGQTEPHTVLFHEPGSSSVWVGGRGKVYLFDFPEGKNASVRTVNIGSTKGSCLDKRDCEN YITLLERRSEGLLACGTNARHPSCWNLVNGTVVPLGEMRGYAPFSPDENSLVLFEGDEVYSTIR KQEYNGKIPRFRRIRGESELYTSDTVMQNPQFIKATIVHQDQAYDDKIYYFFREDNPDKNPEAP LNVSRVAQLCRGDQGGESSLSVSKWNTFLKAMLVCSDAATNKNFNRLQDVFLLPDPSGQWRDTR VYGVFSNPWNYSAVCVYSLGDIDKVFRTSSLKGYHSSLPNPRPGKCLPDQQPIPTETFQVADRH PEVAQRVEPMGPLKTPLFHSKYHYQKVAVHRMQASHGETFHVLYLTTDRGTIHKVVEPGEQEHS FAFNIMEIQPFRRAAAIQTMSLDAERRKLYVSSQWEVSQVPLDLCEVYGGGCHGCLMSRDPYCG WDQGRCISIYSSERSVLQSINPAEPHKECPNPKPDKAPLQKVSLAPNSRYYLSCPMESRHATYS WRHKENVEQSCEPGHQSPNCILFIENLTAQQYGHYFCEAQEGSYFREAQHWQLLPEDGIMAEHL LGHACALAASLWLGVLPTLTLGLLVH hide sequence

RefSeq Acc Id:	NP_001139502 ⟸ NM_001146030
- Peptide Label:	isoform 3
- UniProtKB:	O75326 (UniProtKB/Swiss-Prot), B3KMH6 (UniProtKB/TrEMBL), F5GYX3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRGYAPFSPDENSLVLFEGDEVYSTIRKQEYNGKIPRFRRIRGESELYTSDTVMQNPQFIKATI VHQDQAYDDKIYYFFREDNPDKNPEAPLNVSRVAQLCRGDQGGESSLSVSKWNTFLKAMLVCSD AATNKNFNRLQDVFLLPDPSGQWRDTRVYGVFSNPWNYSAVCVYSLGDIDKVFRTSSLKGYHSS LPNPRPGKCLPDQQPIPTETFQVADRHPEVAQRVEPMGPLKTPLFHSKYHYQKVAVHRMQASHG ETFHVLYLTTDRGTIHKVVEPGEQEHSFAFNIMEIQPFRRAAAIQTMSLDAERRKLYVSSQWEV SQVPLDLCEVYGGGCHGCLMSRDPYCGWDQGRCISIYSSERSVLQSINPAEPHKECPNPKPDKA PLQKVSLAPNSRYYLSCPMESRHATYSWRHKENVEQSCEPGHQSPNCILFIENLTAQQYGHYFC EAQEGSYFREAQHWQLLPEDGIMAEHLLGHACALAASLWLGVLPTLTLGLLVH hide sequence

RefSeq Acc Id:

ENSP00000441493 ⟸ ENST00000542748

RefSeq Acc Id:

ENSP00000438966 ⟸ ENST00000543145

RefSeq Acc Id:

ENSP00000261918 ⟸ ENST00000261918

Protein Domains

Ig-like Ig-like C2-type Sema

Promoters

RGD ID:

6815093

Promoter ID:

HG_MRA:5474

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

AK001895

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	72,495,756 - 72,496,256 (-)	MPROMDB

RGD ID:

6792578

Promoter ID:

HG_KWN:21901

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001146029, NM_001146030, OTTHUMT00000272904

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	72,513,096 - 72,513,597 (-)	MPROMDB

RGD ID:

7230087

Promoter ID:

EPDNEW_H20789

Type:

initiation region

Name:

SEMA7A_1

Description:

semaphorin 7A

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	74,433,958 - 74,434,018	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003612.5(SEMA7A):c.620G>A (p.Arg207Gln)	single nucleotide variant	John Milton Hagen blood group system [RCV000029232]	Chr15:74417376 [GRCh38] Chr15:74709717 [GRCh37] Chr15:15q24.1	pathogenic\|affects
NM_003612.5(SEMA7A):c.619C>T (p.Arg207Trp)	single nucleotide variant	John Milton Hagen blood group system [RCV000029233]	Chr15:74417377 [GRCh38] Chr15:74709718 [GRCh37] Chr15:15q24.1	pathogenic\|affects
NM_003612.5(SEMA7A):c.1379G>A (p.Arg460His)	single nucleotide variant	John Milton Hagen blood group system [RCV000029234]	Chr15:74411928 [GRCh38] Chr15:74704269 [GRCh37] Chr15:15q24.1	pathogenic\|affects
NM_003612.5(SEMA7A):c.1381C>T (p.Arg461Cys)	single nucleotide variant	John Milton Hagen blood group system [RCV000029235]	Chr15:74411926 [GRCh38] Chr15:74704267 [GRCh37] Chr15:15q24.1	pathogenic\|affects
NM_003612.5(SEMA7A):c.1040G>T (p.Arg347Leu)	single nucleotide variant	John Milton Hagen blood group system [RCV000029236]	Chr15:74414893 [GRCh38] Chr15:74707234 [GRCh37] Chr15:15q24.1	pathogenic\|affects
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	copy number loss	See cases [RCV000051128]	Chr15:72671629..75662276 [GRCh38] Chr15:72963970..75954617 [GRCh37] Chr15:70751023..73741672 [NCBI36] Chr15:15q24.1-24.2	pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	copy number gain	See cases [RCV000051821]	Chr15:72629028..75242989 [GRCh38] Chr15:72921369..75535330 [GRCh37] Chr15:70708423..73322383 [NCBI36] Chr15:15q24.1-24.2	pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]\|See cases [RCV000053219]	Chr15:70788624..76057736 [GRCh38] Chr15:71080963..76350077 [GRCh37] Chr15:68868017..74137132 [NCBI36] Chr15:15q23-24.2	pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]\|See cases [RCV000053220]	Chr15:74106871..75727625 [GRCh38] Chr15:74399212..76019966 [GRCh37] Chr15:72186265..73807021 [NCBI36] Chr15:15q24.1-24.2	pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	copy number loss	See cases [RCV000137347]	Chr15:72671629..75199803 [GRCh38] Chr15:72963970..75492144 [GRCh37] Chr15:70751023..73279197 [NCBI36] Chr15:15q24.1-24.2	likely pathogenic\|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	copy number loss	See cases [RCV000141666]	Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1	pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	copy number loss	See cases [RCV000141573]	Chr15:72685231..75727625 [GRCh38] Chr15:72977572..76019966 [GRCh37] Chr15:70764625..73807021 [NCBI36] Chr15:15q24.1-24.2	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	copy number loss	See cases [RCV000142748]	Chr15:72671629..75242989 [GRCh38] Chr15:72963970..75535330 [GRCh37] Chr15:70751023..73322383 [NCBI36] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	copy number gain	See cases [RCV000240066]	Chr15:72998989..76069787 [GRCh37] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	copy number loss	See cases [RCV000240271]	Chr15:72958539..75569605 [GRCh37] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	copy number gain	See cases [RCV000240526]	Chr15:74368270..78122737 [GRCh37] Chr15:15q24.1-24.3	uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	copy number loss	not provided [RCV000509167]	Chr15:72958539..76063285 [GRCh37] Chr15:15q24.1-24.2	not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	copy number loss	See cases [RCV000510609]	Chr15:72943184..75567198 [GRCh37] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
Single allele	deletion	not provided [RCV000677994]	Chr15:72958539..75569605 [GRCh37] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	copy number loss	not provided [RCV000683704]	Chr15:72943184..76072324 [GRCh37] Chr15:15q24.1-24.2	pathogenic
Single allele	duplication	Schizophrenia [RCV000754166]	Chr15:72640623..75277317 [GRCh38] Chr15:15q24.1-24.2	likely pathogenic
Single allele	duplication	Schizophrenia [RCV000754167]	Chr15:74071509..77878298 [GRCh38] Chr15:15q24.1-24.3	likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1	copy number loss	not provided [RCV000751338]	Chr15:72965159..75513545 [GRCh37] Chr15:15q24.1-24.2	uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
NM_003612.5(SEMA7A):c.618_619del (p.Ile206fs)	deletion	John Milton Hagen blood group system [RCV000859987]	Chr15:74417377..74417378 [GRCh38] Chr15:74709718..74709719 [GRCh37] Chr15:15q24.1	uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	copy number loss	not provided [RCV000848080]	Chr15:72926922..75544524 [GRCh37] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	copy number gain	not provided [RCV000848212]	Chr15:72963271..76064900 [GRCh37] Chr15:15q24.1-24.2	pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	copy number loss	not provided [RCV000849229]	Chr15:72943184..75544524 [GRCh37] Chr15:15q24.1-24.2	pathogenic
NM_003612.5(SEMA7A):c.343T>A (p.Ser115Thr)	single nucleotide variant	not provided [RCV000962378]	Chr15:74418297 [GRCh38] Chr15:74710638 [GRCh37] Chr15:15q24.1	benign
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	copy number loss	not provided [RCV001006709]	Chr15:72943184..75567198 [GRCh37] Chr15:15q24.1-24.2	pathogenic
NM_003612.5(SEMA7A):c.916G>A (p.Val306Ile)	single nucleotide variant	John Milton Hagen blood group system [RCV000859988]	Chr15:74415871 [GRCh38] Chr15:74708212 [GRCh37] Chr15:15q24.1	likely benign
GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	copy number loss	not provided [RCV001259708]	Chr15:74398162..76054094 [GRCh37] Chr15:15q24.1-24.2	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:10741	AgrOrtholog
COSMIC	SEMA7A	COSMIC
Ensembl Genes	ENSG00000138623	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000288455	UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000261918	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000438966	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000441493	ENTREZGENE, UniProtKB/TrEMBL
	ENSP00000500204	UniProtKB/Swiss-Prot
	ENSP00000500448	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000261918	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000542748	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000543145	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000671713	UniProtKB/Swiss-Prot
	ENST00000672978	UniProtKB/Swiss-Prot
Gene3D-CATH	2.130.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.60.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000138623	GTEx
	ENSG00000288455	GTEx
HGNC ID	HGNC:10741	ENTREZGENE
Human Proteome Map	SEMA7A	Human Proteome Map
InterPro	Ig-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig-like_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Plexin_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PSI	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sema7A_sema	UniProtKB/Swiss-Prot
	Semap_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Semap_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Semaphorin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8482	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	8482	ENTREZGENE
OMIM	607961	OMIM
	614745	OMIM
PANTHER	PTHR11036	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Ig_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PSI	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sema	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA35663	PharmGKB
PROSITE	IG_LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SEMA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PSI	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sema	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF101912	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48726	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KMH6	ENTREZGENE, UniProtKB/TrEMBL
	F5GYX3	ENTREZGENE, UniProtKB/TrEMBL
	O75326	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B4DDP7	UniProtKB/Swiss-Prot
	F5H1S0	UniProtKB/Swiss-Prot
	Q1XE81	UniProtKB/Swiss-Prot
	Q1XE82	UniProtKB/Swiss-Prot
	Q1XE83	UniProtKB/Swiss-Prot
	Q1XE84	UniProtKB/Swiss-Prot
	Q3MIY5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-19	SEMA7A	semaphorin 7A (John Milton Hagen blood group)		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	Symbol and/or name change	5135510	APPROVED
2011-08-17	SEMA7A	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	SEMA7A	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	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