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SEMA7A Gene

protein-coding GIFtS: 66
GCID: GC15M074701

Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood...

(Previous names: sema domain, immunoglobulin domain (Ig), and GPI membrane...)
(Previous symbol: SEMAL)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood Group)¹ ²		H-SEMA-K1²
SEMAL¹ ² ³ ⁵		H-Sema-L²
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A (JMH Blood Group)¹ ²		John Milton Hagen Blood Group H-Sema K1²
John-Milton-Hargen Human Blood Group Ag² ³		Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, 7A²
Sema K1² ³		Semaphorin K1²
Sema L² ³		Semaphorin L²
CD108² ³		semaphorin-7A²
CDw108² ³		semaphorin-K1²
JMH Blood Group Antigen² ³		semaphorin-L²
JMH² ⁵		Semaphorin-K1³
SEMAK1² ⁵		Semaphorin-L³
H-Sema K1¹		CD108 Antigen³
John Milton Hagen Blood Group¹		CDW108⁵
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A¹

External Ids:	HGNC: 10741¹	Entrez Gene: 8482²	Ensembl: ENSG00000138623⁷	OMIM: 607961⁵	UniProtKB: O75326³

Export aliases for SEMA7A gene to outside databases

Previous GC identifers: GC15M070720 GC15M067816 GC15M072278 GC15M072418 GC15M072489 GC15M051497

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SEMA7A Gene:

The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The

encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in

immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD).

Three transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Mar

2009)

GeneCards Summary for SEMA7A Gene:

SEMA7A (semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)) is a protein-coding gene. Diseases associated with SEMA7A include hard palate cancer, and esotropia. GO annotations related to this gene include integrin binding and receptor activity. An important paralog of this gene is SEMA6D.

UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326

Function: Plays an important role in integrin-mediated signaling and functions both in regulating cell migration

and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1

and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes

and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses.

Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in

melanocytes

Gene Wiki entry for SEMA7A Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000015.10 NT_010194.18 NC_018926.2

Regulatory elements:

Regulatory transcription factor binding sites in the SEMA7A gene promoter:
AhR Bach1 RP58 Nkx5-1 Arnt E47 AREB6 MRF-2 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SEMA7A promoter sequence

Search Chromatin IP Primers for SEMA7A

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEMA7A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.3-q23 Ensembl cytogenetic band: 15q24.1 HGNC cytogenetic band: 15q22.3-q23

SEMA7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEMA7A gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M074701: view genomic region (about GC identifiers)

Start:	74,701,630 bp from pter	End:	74,726,808 bp from pter
Size:	25,179 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326 (See protein sequence)

Recommended Name: Semaphorin-7A precursor

Size: 666 amino acids; 74824 Da

Subunit: Interacts with ITGA1 and ITGB1 (Probable). Interacts with PLXNC1

1 PDB 3D structure from and Proteopedia for SEMA7A:

3NVQ (3D)

Secondary accessions: B4DDP7 F5H1S0 Q1XE81 Q1XE82 Q1XE83 Q1XE84 Q3MIY5

Alternative splicing: 2 isoforms: O75326-1 O75326-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEMA7A: NX_O75326

Explore proteomics data for SEMA7A at MOPED

Post-translational modifications:

Glycosylation² at Asn105, Asn157, Asn258, Asn330, Asn602

Modification sites at PhosphoSitePlus

See SEMA7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001139501.1 NP_001139502.1 NP_003603.1

ENSEMBL proteins:

ENSP00000261918 ENSP00000438966 ENSP00000454365 ENSP00000441493

Reactome Protein details: O75326

SEMA7A Human Recombinant Protein Products:

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SEMA7A Antibody Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

CD: CD molecules

bloodgroup: Blood group antigens

IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

SEMA: Semaphorins

Selected InterPro protein domains (see all 8):

IPR002165 Plexin_repeat

IPR013783 Ig-like_fold

IPR027231 Semaphorin

IPR001627 Semap_dom

IPR007110 Ig-like_dom

Graphical View of Domain Structure for InterPro Entry O75326

ProtoNet protein and cluster: O75326

1 Blocks protein domain: IPB003599 Immunoglobulin subtype

UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326

Similarity: Belongs to the semaphorin family

Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain

Similarity: Contains 1 PSI domain

Similarity: Contains 1 Sema domain

SEMA7A for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: SEM7A_HUMAN, O75326

Function: Plays an important role in integrin-mediated signaling and functions both in regulating cell migration

and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1

and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes

and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses.

Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in

melanocytes

Induction: Up-regulated in UV-irradiated fibroblasts, but not in UV-irradiated keratinocytes

Genatlas biochemistry entry for SEMA7A:

semaphorin 7A,74.8kDa,expressed in the placenta,spleen,thymus and gonadal tissues,ligand for the plexin

C1,putative counterpart of the viral semaphorin VB

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0005178	integrin binding	IEA	--
GO:0005515	protein binding	IPI	17474147

SEMA7A for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for SEMA7A:

Decreased homologous recombina

Synthetic lethal with Ras

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Sema7a):

cellular

nervous system

SEMA7A for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Sema7a^tm1Alk for SEMA7A

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEMA7A

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEMA7A

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEMA7A

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEMA7A

miRNA Products:		miRTarBase miRNAs that target SEMA7A: hsa-mir-615-3p (MIRT040303)

		Block miRNA regulation of human, mouse, rat SEMA7A using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SEMA7A (see all 37):
		hsa-miR-323-3p hsa-miR-4328 hsa-miR-106a hsa-miR-513a-5p hsa-miR-128 hsa-miR-485-3p hsa-miR-519a hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: SEMA7A 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SEMA7A
		Predesigned siRNA for gene silencing in human, mouse, rat SEMA7A

Gene Editing
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DNA2.0 Custom Protein Engineering Service for SEMA7A

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		GenScript: all cDNA clones in your preferred vector (see all 3): SEMA7A (NM_003612)
		Sino Biological Human cDNA Clone for SEMA7A
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEMA7A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA7A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SEMA7A
		Browse ESI BIO Cell Lines and PureStem Progenitors for SEMA7A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA7A

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

SEM7A_HUMAN, O75326: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Note=Detected in a punctate

pattern on the cell membrane of basal and supra-basal skin keratinocytes

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	5
cytosol	1
endoplasmic reticulum	1
extracellular	1
golgi apparatus	1
lysosome	1
mitochondrion	1
nucleus	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0009897	external side of plasma membrane	ISS	--
GO:0016020	membrane	--	--
GO:0031225	anchored component of membrane	IEA	--

SEMA7A for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for SEMA7A About

See pathways by source

SuperPath

Contained pathways About

L1CAM interactions

Axon guidance

0.63

Developmental Biology

0.63

Semaphorin interactions

Semaphorin interactions

0.43

Other semaphorin interactions

0.00

Semaphorin Signaling

Semaphorin Signaling

Axon guidance

Axon guidance

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SEMA7A

Semaphorin Signaling

1 Reactome Pathway for SEMA7A

Other semaphorin interactions

1 Kegg Pathway (Kegg details for SEMA7A):

Axon guidance

SEMA7A for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SEMA7A
Interactions:

Search GeneGlobe Interaction Network for SEMA7A

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

Selected Interacting proteins for SEMA7A (O75326^{1, 2, 3} ENSP00000261918⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLXNC1	O60486¹^,³, ENSP00000258526⁴	EBI-1753538,EBI-2927384 I2D: score=3 STRING: ENSP00000258526
NCK1	P16333¹^,³, ENSP00000288986⁴	EBI-1753538,EBI-389883 I2D: score=1 STRING: ENSP00000288986
ABL1	P00519³, ENSP00000361423⁴	I2D: score=1 STRING: ENSP00000361423
FYN	P06241³, ENSP00000357656⁴	I2D: score=1 STRING: ENSP00000357656
GRB2	P62993³, ENSP00000339007⁴	I2D: score=1 STRING: ENSP00000339007

About this table

Gene Ontology (GO): Selected biological process terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006954	inflammatory response	IEA	--
GO:0006955	immune response	TAS	9721204
GO:0007229	integrin-mediated signaling pathway	IDA	12879062
GO:0007275	multicellular organismal development	--	--
GO:0007411	axon guidance	TAS	--

SEMA7A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SEMA7A (SEM7A)

1 Novoseek inferred chemical compound relationship for SEMA7A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	0	1	8898942 (1)

SEMA7A for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SEMA7A gene (3 alternative transcripts):

NM_001146029.1 NM_001146030.1 NM_003612.3

Unigene Cluster for SEMA7A:

Semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)

Hs.24640 [show with all ESTs]

Unigene Representative Sequence: NM_003612

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000261918(uc002axv.3 uc010ull.2) ENST00000543145 ENST00000569617

ENST00000567345 ENST00000542748(uc010ulk.2)

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat SEMA7A using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate SEMA7A (see all 37):
		hsa-miR-323-3p hsa-miR-4328 hsa-miR-106a hsa-miR-513a-5p hsa-miR-128 hsa-miR-485-3p hsa-miR-519a hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: SEMA7A 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 3): SEMA7A (NM_003612)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEMA7A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA7A

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SEMA7A
		QuantiTect SYBR Green Assays in human, mouse, rat SEMA7A
		QuantiFast Probe-based Assays in human, mouse, rat SEMA7A

Additional mRNA sequence:

AF030698.1 AF069493.1 AF071542.1 AK001895.1 AK293280.1 AK312257.1 AM180445.1 AM180446.1

AM180447.1 AM180448.1 AM180449.1 AM180450.1 AM180451.1 BC101643.1 BC101647.1

5 DOTS entries:

DT.95157853 DT.110297 DT.75100409 DT.121054322 DT.91702402

Selected AceView cDNA sequences (see all 114):

BE700441 BE700437 BF363196 BE700453 BE700419 BE700424 AI754587 BE700418

BE700402 AK001895 BE700434 BE700433 BE700450 BM050767 BE700406 BU627774

AF069493 NM_003612 BE700429 BE700463 AU136411 BE700443 BE700401 BE700426

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SEMA7A expression in normal human tissues (normalized intensities) SEMA7A embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTATAACTTA

About this image

SEMA7A expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Ovary (Reproductive System)
Mature follicles

Gut Tube (Gastrointestinal Tract)
Foregut

Kidney (Urinary System)
Metanephros

Blood (Hematopoietic System)
Hematopoietic Stem Cells Hematopoietic Bone Marrow

SEMA7A Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SEMA7A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.24640

UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326

Tissue specificity: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein

level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal

chord, lung, heart, adrenal gland, lymph nodes, thymus, intestine and kidney

Custom PCR Arrays for SEMA7A

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		QuantiFast Probe-based Assays in human, mouse, rat SEMA7A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA7A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for SEMA7A gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sema7a^{1 , 5}	sema domain, immunoglobulin domain (Ig), and GPI membrane more^{1, 5}	87.88(n)¹ 89.59(a)¹		9 (31.63 cM)⁵ 20361¹ NM_011352.2¹ NP_035482.1¹ 57940135⁵
chicken (Gallus gallus)	Aves	SEMA7A¹	semaphorin 7A, GPI membrane anchor (John Milton Hagen more	58.8(n) 49.5(a)		415298 NM_001199749.1 NP_001186678.1
lizard (Anolis carolinensis)	Reptilia	SEMA7A⁶	semaphorin 7A, GPI membrane anchor (John Milton Ha...	29(a)	1 ↔ 1	AAWZ02036995(977-20395)
tropical clawed frog (Xenopus tropicalis)	Amphibia	sema7a¹	semaphorin 7A, GPI membrane anchor (John Milton Hagen more	46.21(n) 33.84(a)		100496273 XM_002937481.2 XP_002937527.2
zebrafish (Danio rerio)	Actinopterygii	sema7a¹	semaphorin 7A	46.29(n) 38(a)		324910 NM_001114885.1 NP_001108357.1
fruit fly (Drosophila melanogaster)	Insecta	Sema-1b⁶ Sema-1a⁶	Sema-1a	16(a) 15(a)	1 ↔ many 1 ↔ many	2R(13560344-13571000) 2L(8542147-8671917)
worm (Caenorhabditis elegans)	Secernentea	smp-1⁶ smp-2⁶ (see all 3)	Protein SMP-2 (smp-2) mRNA, complete cds (see all 3)	18(a) 18(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	I(14807468-14815714) WBGene00004889 I(3667124-3671700) WBGene00004890

ENSEMBL Gene Tree for SEMA7A (if available)
TreeFam Gene Tree for SEMA7A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SEMA7A gene

SEMA6D² SEMA6B² SEMA6C² SEMA5A² SEMA6A² SEMA5B²

4 SIMAP similar genes for SEMA7A using alignment to 3 protein entries: SEM7A_HUMAN (see all proteins):

SEMA3A SEMA4B SEMA3C SEMA3F

SEMA7A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot

SEM7A_HUMAN, O75326: Genetic variations in SEMA7A define the John Milton Hagen blood group system (JMH) [MIM:614745].

Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH

antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or

inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals

with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red

blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28362930^1,2	C,F	--	54752145(-)	`GGTGCC/TGGCTG`	3	--	ds500¹		10		NS NA WA CSA EA	446
rs188948456^1,2	C	--	54752192(+)	`ACAGGA/GTCGCA`	3	--	ds500¹		0	--	--	--	--
rs181636143^1,2		--	54752238(+)	`GGCAGC/GGAGTC`	3	--	ds500¹		0	--	--	--	--
rs28362929^1,2	C,F	--	54752357(-)	`TCGAGC/ACTTGA`	3	--	ds500¹		6		NS NA WA	202
rs149867659^1,2		--	54752373(+)	`CAGCAC/TGCTGC`	3	--	ds500¹		0	--	--	--	--
rs113822312^1,2	C	--	54752680(+)	`CCCTGG/TGTGGC`	3	--	ut3¹		0	--	--	--	--
rs28362928^1,2	C	--	54752718(-)	`TTTCAG/TGGGGG`	3	--	ut3¹		3		NS NA	80
rs75319052^1,2	C	--	54752819(+)	`TAACAC/TGTCCT`	3	--	ut3¹		0	--	--	--	--
rs185509908^1,2		--	54752883(+)	`TGAGAA/GGAAGG`	3	--	ut3¹		0	--	--	--	--
rs28362927^1,2	C	--	54752956(-)	`GAGCCG/AGGTCC`	3	--	ut3¹		3		NS NA	88

HapMap Linkage Disequilibrium report for SEMA7A (74701630 - 74726808 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for SEMA7A (see all 15): About this table

Variant ID	Type	Subtype	PubMed ID
esv2749879	CNV	Deletion	23290073
dgv2412n71	CNV	Loss	21882294
nsv904373	CNV	Loss	21882294
esv24909	CNV	Loss	19812545
dgv2413n71	CNV	Loss	21882294
dgv2409n71	CNV	Loss	21882294
dgv2411n71	CNV	Loss	21882294
nsv904371	CNV	Loss	21882294
dgv2406n71	CNV	Loss	21882294
dgv2407n71	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): SEMA7A

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SEMA7A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607961
OMIM disorders: 614745
15 diseases for SEMA7A:    About MalaCards

hard palate cancer esotropia cardiac sarcoidosis exotropia

paroxysmal nocturnal hemoglobinuria hemoglobinuria sarcoidosis pulmonary fibrosis

melanoma hypoxia rheumatoid arthritis arthritis

neuronitis endotheliitis cerebritis

1 disease from the University of Copenhagen DISEASES database for SEMA7A:

Exotropia

SEMA7A for disorders About GeneDecksing

2 Novoseek inferred disease relationships for SEMA7A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
melanoma	8.16	1	18987670 (1)
tumors	0	1	18987670 (1)

Genetic Association Database (GAD): SEMA7A
Human Genome Epidemiology (HuGE) Navigator: SEMA7A (1 document)

Export disorders for SEMA7A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SEMA7A gene, integrated from 10 sources (see all 42):
(articles sorted by number of sources associating them with SEMA7A)

Utopia: connect your pdf to the dynamic
world of online information

New eukaryotic semaphorins with close homology to semaphorins of DNA viruses. (PubMed id 9721204)^{1, 2, 3} Lange C.... Ensser A. (Genomics 1998)
The molecular diversity of Sema7A, the semaphorin that carries the JMH blood group antigens. (PubMed id 17207242)^{1, 2, 9} Seltsam A.... Blasczyk R. (Transfusion 2007)
Semaphorin 7a promotes spreading and dendricity in human melanocytes through beta1-integrins. (PubMed id 17671519)^{1, 2, 9} Scott G.A.... Fricke A.F. (J. Invest. Dermatol. 2008)
Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean women. (PubMed id 16372136)^{1, 4, 9} Koh J.M....Kim S.Y. (J. Hum. Genet. 2006)
Molecular cloning of a glycosylphosphatidylinositol-anchored molecule CDw108. (PubMed id 10201933)^{1, 2, 9} Yamada A.... Itoh K. (J. Immunol. 1999)
Semaphorin 7A initiates T-cell-mediated inflammatory responses through alpha1beta1 integrin. (PubMed id 17377534)^{1, 2, 9} Suzuki K.... Kikutani H. (Nature 2007)
Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. (PubMed id 12879062)^{1, 2, 9} Pasterkamp R.J.... Kolodkin A.L. (Nature 2003)
Human semaphorin K1 is glycosylphosphatidylinositol-linked and defines a new subfamily of viral-related semaphorins. (PubMed id 9712866)^{1, 2, 9} Xu X.... Luo Y. (J. Biol. Chem. 1998)
Characterization of the human leukocyte GPI-anchored glycoprotein CDw108 and its relation to other similar molecules. (PubMed id 10416131)^{1, 2, 9} Angelisova P.... Horejsi V. (Immunobiology 1999)
A new SEMA7A variant found in Native Americans with alloantibody. (PubMed id 20854351)^{1, 2} Richard M.... St-Louis M. (Vox Sang. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8482	HGNC: 10741	AceView: SEMA7A	Ensembl:ENSG00000138623	euGenes: HUgn8482
ECgene: SEMA7A	Kegg: 8482	H-InvDB: SEMA7A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SEMA7A	Pharmacogenomics, SNPs, Pathways
dbRBC/BGMUT	http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=jmh
SeattleSNPs	http://pga.gs.washington.edu/data/sema7a/

Intellectual Property for SEMA7A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SEMA7A gene:
Search GeneIP for patents involving SEMA7A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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SEMA7A Gene

Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood...

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SEMA7A (Gene Symbol)
Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood Group)
SEMAL
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A (JMH Blood Group)
John-Milton-Hargen Human Blood Group Ag
Sema K1
Sema L
CD108
CDw108
JMH Blood Group Antigen
JMH
SEMAK1
H-Sema K1
John Milton Hagen Blood Group
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, (Semaphorin) 7A
H-SEMA-K1
H-Sema-L
John Milton Hagen Blood Group H-Sema K1
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, 7A
Semaphorin K1
Semaphorin L
semaphorin-7A
semaphorin-K1
semaphorin-L
Semaphorin-K1
Semaphorin-L
CD108 Antigen
CDW108

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SEMA7A Gene

Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood...

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