FRMD7

Functionⁱ

Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.By similarity2 Publications

GO - Biological processⁱ

negative regulation of protein binding Source: Ensembl
negative regulation of stress fiber assembly Source: Ensembl
nervous system development Source: UniProtKB-KW
positive regulation of lamellipodium assembly Source: Ensembl
positive regulation of small GTPase mediated signal transduction Source: Ensembl
regulation of neuron projection development Source: UniProtKB

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Neurogenesis

Biological process

Neurogenesis

Enzyme and pathway databases

PathwayCommonsⁱ	Q6ZUT3

PathwayCommonsⁱ

Q6ZUT3

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: FERM domain-containing protein 7
Gene namesⁱ	Name:FRMD7
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:8079, FRMD7
MIMⁱ	300628, gene
neXtProtⁱ	NX_Q6ZUT3
VEuPathDBⁱ	HostDB:ENSG00000165694.9

Keywords - Cellular componentⁱ

Cell projection

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Nystagmus congenital X-linked 1 (NYS1)12 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_062650	14	Missing in NYS1. 1 Publication	1
Natural variantⁱVAR_072102	16	F → S in NYS1. 1 Publication	1
Natural variantⁱVAR_028951	24	G → E in NYS1. 1 Publication	1
Natural variantⁱVAR_028952	24	G → R in NYS1. 3 PublicationsCorresponds to variant dbSNP:rs137852210EnsemblClinVar.	1
Natural variantⁱVAR_062651	24	G → W in NYS1. 1 Publication	1
Natural variantⁱVAR_028953	142	L → R in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs137852211EnsemblClinVar.	1
Natural variantⁱVAR_062652	146	R → W in NYS1. 1 PublicationCorresponds to variant dbSNP:rs780995406Ensembl.	1
Natural variantⁱVAR_072103	208	H → R in NYS1. 1 Publication	1
Natural variantⁱVAR_072104	212	L → P in NYS1; decreased RAC1 activity. 1 Publication	1
Natural variantⁱVAR_028954	221	N → D in NYS1. 1 Publication	1
Natural variantⁱVAR_062653	225	W → G in NYS1. 1 Publication	1
Natural variantⁱVAR_028955	226	A → T in NYS1. 2 Publications	1
Natural variantⁱVAR_062654	229	R → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.	1
Natural variantⁱVAR_062655	229	R → G in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.	1
Natural variantⁱVAR_028956	231	L → V in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906720EnsemblClinVar.	1
Natural variantⁱVAR_062656	261	R → G in NYS1. 1 Publication	1
Natural variantⁱVAR_062657	261	R → Q in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1332489637Ensembl.	1
Natural variantⁱVAR_028957	266	A → P in NYS1. 2 Publications	1
Natural variantⁱVAR_062658	271	C → F in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.	1
Natural variantⁱVAR_072105	271	C → S in NYS1. 1 Publication	1
Natural variantⁱVAR_028958	271	C → Y in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.	1
Natural variantⁱVAR_062659	275	H → P in NYS1. 1 Publication	1
Natural variantⁱVAR_062660	296	G → R in NYS1. 1 Publication	1
Natural variantⁱVAR_028960	301	Y → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1297486092Ensembl.	1
Natural variantⁱVAR_072106	306	Q → R in NYS1. 1 Publication	1
Natural variantⁱVAR_028961	340	S → L in NYS1. 2 Publications	1

Keywords - Diseaseⁱ

Disease variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	90167
GeneReviewsⁱ	FRMD7
MalaCards human disease database More...MalaCardsⁱ	FRMD7
MIMⁱ	310700, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000165694
Orphanetⁱ	651, NON RARE IN EUROPE: Idiopathic infantile nystagmus
PharmGKBⁱ	PA162388934

Miscellaneous databases

Pharosⁱ	Q6ZUT3, Tbio

Pharosⁱ

Q6ZUT3, Tbio

Genetic variation databases

BioMutaⁱ	FRMD7
DMDMⁱ	74749680

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000259532	1 – 714	FERM domain-containing protein 7Add BLAST		714

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q6ZUT3
PaxDbⁱ	Q6ZUT3
PeptideAtlas More...PeptideAtlasⁱ	Q6ZUT3
PRIDEⁱ	Q6ZUT3
ProteomicsDBⁱ	68358 [Q6ZUT3-1] 68359 [Q6ZUT3-2]

PTM databases

iPTMnetⁱ	Q6ZUT3
PhosphoSitePlusⁱ	Q6ZUT3

Expressionⁱ

Tissue specificityⁱ

Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.1 Publication

Developmental stageⁱ

In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain, regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In 56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord and the developing neural retina. In later development, highly expressed in postmitotic cells within the developing subplate and cortical plate.3 Publications

Gene expression databases

Bgeeⁱ	ENSG00000165694, Expressed in calcaneal tendon and 42 other tissues
ExpressionAtlasⁱ	Q6ZUT3, baseline and differential
Genevisibleⁱ	Q6ZUT3, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000165694, Group enriched (endometrium, kidney, smooth muscle)

HPAⁱ

ENSG00000165694, Group enriched (endometrium, kidney, smooth muscle)

Interactionⁱ

Binary interactionsⁱ

Q6ZUT3

With	#Exp.	IntAct
CLNS1A [P54105]	3	EBI-12325851,EBI-724693

Protein-protein interaction databases

BioGRIDⁱ	124672, 3 interactors
IntActⁱ	Q6ZUT3, 1 interactor
STRINGⁱ	9606.ENSP00000298542

Miscellaneous databases

RNActⁱ	Q6ZUT3, protein

RNActⁱ

Q6ZUT3, protein

Structureⁱ

3D structure databases

SMRⁱ	Q6ZUT3
ModBaseⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	2 – 282	FERMPROSITE-ProRule annotationAdd BLAST		281

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	537 – 558	Sequence analysisAdd BLAST		22

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	KOG3531, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000158972
HOGENOMⁱ	CLU_030239_0_0_1
InParanoidⁱ	Q6ZUT3
OMAⁱ	DIMPPQV
Database of Orthologous Groups More...OrthoDBⁱ	476668at2759
PhylomeDBⁱ	Q6ZUT3
TreeFamⁱ	TF317513

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd14473, FERM_B-lobe, 1 hit cd13193, FERM_C_FARP1-like, 1 hit
Gene3Dⁱ	1.20.80.10, 1 hit 2.30.29.30, 1 hit
InterProⁱ	View protein in InterPro IPR019749, Band_41_domain IPR041788, FARP1/FARP2/FRMD7_FERM_C IPR014847, FERM-adjacent IPR014352, FERM/acyl-CoA-bd_prot_sf IPR035963, FERM_2 IPR019748, FERM_central IPR019747, FERM_CS IPR000299, FERM_domain IPR018979, FERM_N IPR018980, FERM_PH-like_C IPR011993, PH-like_dom_sf IPR029071, Ubiquitin-like_domsf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF08736, FA, 1 hit PF09380, FERM_C, 1 hit PF00373, FERM_M, 1 hit PF09379, FERM_N, 1 hit
PRINTSⁱ	PR00935, BAND41
SMARTⁱ	View protein in SMART SM00295, B41, 1 hit SM01195, FA, 1 hit SM01196, FERM_C, 1 hit
SUPFAMⁱ	SSF47031, SSF47031, 1 hit SSF54236, SSF54236, 1 hit
PROSITEⁱ	View protein in PROSITE PS00660, FERM_1, 1 hit PS50057, FERM_3, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show all Align All

Isoform 1 (identifier: Q6ZUT3-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH 
        60         70         80         90        100
SGNNVWLELL KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL 
       110        120        130        140        150
QIKKDLALGR LPCSDNCTAL MVSHILQSEL GDFHEETDRK HLAQTRYLPN 
       160        170        180        190        200
QDCLEGKIMH FHQKHIGRSP AESDILLLDI ARKLDMYGIR PHPASDGEGM 
       210        220        230        240        250
QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI KLHANILVLC 
       260        270        280        290        300
KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR 
       310        320        330        340        350
YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ 
       360        370        380        390        400
VEDLRLAYGG GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA 
       410        420        430        440        450
DPTLLHQSQS SSSFPFIYMD PVFNTEPNPN PDPRDIFSER SSLSSFQTSC 
       460        470        480        490        500
KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY IPCTGQQVGI MPPQVFFYVD 
       510        520        530        540        550
KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM KSFQQDLQVL 
       560        570        580        590        600
QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR 
       610        620        630        640        650
FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES 
       660        670        680        690        700
SDSESEILKP DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA 
       710 
EDRTSLKPCN YFLA

Length:714

Mass (Da):81,614

Last modified:July 5, 2004 - v1

Checksum:ⁱ7AD1D96FD4585217

GO

Isoform 2 (identifier: Q6ZUT3-2) [UniParc]FASTA Add to basket

Also known as: S

The sequence of this isoform differs from the canonical sequence as follows:
69-84: NPKEIVFKFMVKFFPV → M

« Hide

        10         20         30         40         50
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH 
        60         70         80         90        100
SGNNVWLELL KPITKQVKMD PGHLREELTR YLFTLQIKKD LALGRLPCSD 
       110        120        130        140        150
NCTALMVSHI LQSELGDFHE ETDRKHLAQT RYLPNQDCLE GKIMHFHQKH 
       160        170        180        190        200
IGRSPAESDI LLLDIARKLD MYGIRPHPAS DGEGMQIHLA VAHMGVLVLR 
       210        220        230        240        250
GNTKINTFNW AKIRKLSFKR KHFLIKLHAN ILVLCKDTLE FTMASRDACK 
       260        270        280        290        300
AFWKTCVEYH AFFRLSEEPK SKPKTLLCSK GSSFRYSGRT QRQLLEYGRK 
       310        320        330        340        350
GRLKSLPFER KHYPSQYHER QCRSSPDLLS DVSKQVEDLR LAYGGGYYQN 
       360        370        380        390        400
VNGVHASEPV LESRRRNSAL EVTFATELEH SKPEADPTLL HQSQSSSSFP 
       410        420        430        440        450
FIYMDPVFNT EPNPNPDPRD IFSERSSLSS FQTSCKFSGN HMSIYSGLTS 
       460        470        480        490        500
KVRPAKQLTY TDVPYIPCTG QQVGIMPPQV FFYVDKPPQV PRWSPIRAEE 
       510        520        530        540        550
RTSPHSYVEP TAMKPAERSP RNIRMKSFQQ DLQVLQEAIA RTSGRSNINV 
       560        570        580        590        600
GLEEEDPNLE DAFVCNIQEQ TPKRSQSQSD MKTIRFPFGS EFRPLGPCPA 
       610        620        630        640        650
LSHKADLFTD MFAEQELPAV LMDQSTAERY VASESSDSES EILKPDYYAL 
       660        670        680        690 
YGKEIRSPMA RIRLSSGSLQ LDEEDEDAYF NTPTAEDRTS LKPCNYFLA

Note: May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.Curated

Show »

Length:699

Mass (Da):79,793

Checksum:ⁱA6441806524D27FD

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	X6R7S7	X6R7S7_HUMAN		FERM domain-containing protein 7 FERM domain-containing protein 7	FRMD7 RP6-213H19.2, hCG_1646402	594	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_062650	14	Missing in NYS1. 1 Publication	1
Natural variantⁱVAR_072102	16	F → S in NYS1. 1 Publication	1
Natural variantⁱVAR_028951	24	G → E in NYS1. 1 Publication	1
Natural variantⁱVAR_028952	24	G → R in NYS1. 3 PublicationsCorresponds to variant dbSNP:rs137852210EnsemblClinVar.	1
Natural variantⁱVAR_062651	24	G → W in NYS1. 1 Publication	1
Natural variantⁱVAR_028953	142	L → R in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs137852211EnsemblClinVar.	1
Natural variantⁱVAR_062652	146	R → W in NYS1. 1 PublicationCorresponds to variant dbSNP:rs780995406Ensembl.	1
Natural variantⁱVAR_072103	208	H → R in NYS1. 1 Publication	1
Natural variantⁱVAR_072104	212	L → P in NYS1; decreased RAC1 activity. 1 Publication	1
Natural variantⁱVAR_028954	221	N → D in NYS1. 1 Publication	1
Natural variantⁱVAR_062653	225	W → G in NYS1. 1 Publication	1
Natural variantⁱVAR_028955	226	A → T in NYS1. 2 Publications	1
Natural variantⁱVAR_062654	229	R → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.	1
Natural variantⁱVAR_062655	229	R → G in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.	1
Natural variantⁱVAR_028956	231	L → V in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906720EnsemblClinVar.	1
Natural variantⁱVAR_062656	261	R → G in NYS1. 1 Publication	1
Natural variantⁱVAR_062657	261	R → Q in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1332489637Ensembl.	1
Natural variantⁱVAR_028957	266	A → P in NYS1. 2 Publications	1
Natural variantⁱVAR_062658	271	C → F in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.	1
Natural variantⁱVAR_072105	271	C → S in NYS1. 1 Publication	1
Natural variantⁱVAR_028958	271	C → Y in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.	1
Natural variantⁱVAR_062659	275	H → P in NYS1. 1 Publication	1
Natural variantⁱVAR_028959	281	S → L. Corresponds to variant dbSNP:rs5977625EnsemblClinVar.	1
Natural variantⁱVAR_062660	296	G → R in NYS1. 1 Publication	1
Natural variantⁱVAR_028960	301	Y → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1297486092Ensembl.	1
Natural variantⁱVAR_072106	306	Q → R in NYS1. 1 Publication	1
Natural variantⁱVAR_028961	340	S → L in NYS1. 2 Publications	1
Natural variantⁱVAR_028962	468	R → H. Corresponds to variant dbSNP:rs6637934EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_038722	69 – 84	NPKEI…KFFPV → M in isoform 2. 1 PublicationAdd BLAST		16

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	FJ717411 mRNA Translation: ACN56448.1 AK125336 mRNA Translation: BAC86135.1 AL049792 Genomic DNA No translation available. AL109749 Genomic DNA No translation available. BC114371 mRNA Translation: AAI14372.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS35397.1 [Q6ZUT3-1] CCDS78504.1 [Q6ZUT3-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001293122.1, NM_001306193.1 [Q6ZUT3-2] NP_919253.1, NM_194277.2 [Q6ZUT3-1]

Genome annotation databases

Ensemblⁱ	ENST00000298542; ENSP00000298542; ENSG00000165694 [Q6ZUT3-1] ENST00000464296; ENSP00000417996; ENSG00000165694 [Q6ZUT3-2]
GeneIDⁱ	90167
KEGGⁱ	hsa:90167
UCSC genome browser More...UCSCⁱ	uc004ewn.4, human [Q6ZUT3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q6ZUT3	FERM domain-containing protein 7		HUMAN		594	UniRef100_Q6ZUT3
+1

Protein	Similar proteins		Species	Score	Length	Source
Q6ZUT3	FERM domain-containing protein 7		HUMAN		594	UniRef90_Q6ZUT3
FERM domain-containing protein		PAPAN		714
FERM domain containing 7		GORGO		714
FERM domain-containing protein		CHLSB		714
FERM domain-containing protein 7 isoform X1		SAPAP		714
+53

Protein	Similar proteins		Species	Score	Length	Source
Q6ZUT3	FERM domain-containing protein 7		MOUSE		703	UniRef50_Q6ZUT3
FERM domain-containing protein 7		HUMAN		594
FERM domain-containing protein		RHIRO		714
FERM domain-containing protein		CEBCI		714
FRMD7 isoform 2		PANTR		714
+378

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	FJ717411 mRNA Translation: ACN56448.1 AK125336 mRNA Translation: BAC86135.1 AL049792 Genomic DNA No translation available. AL109749 Genomic DNA No translation available. BC114371 mRNA Translation: AAI14372.1
CCDSⁱ	CCDS35397.1 [Q6ZUT3-1] CCDS78504.1 [Q6ZUT3-2]
RefSeqⁱ	NP_001293122.1, NM_001306193.1 [Q6ZUT3-2] NP_919253.1, NM_194277.2 [Q6ZUT3-1]

3D structure databases

SMRⁱ	Q6ZUT3
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	124672, 3 interactors
IntActⁱ	Q6ZUT3, 1 interactor
STRINGⁱ	9606.ENSP00000298542

PTM databases

iPTMnetⁱ	Q6ZUT3
PhosphoSitePlusⁱ	Q6ZUT3

Genetic variation databases

BioMutaⁱ	FRMD7
DMDMⁱ	74749680

Proteomic databases

MaxQBⁱ	Q6ZUT3
PaxDbⁱ	Q6ZUT3
PeptideAtlasⁱ	Q6ZUT3
PRIDEⁱ	Q6ZUT3
ProteomicsDBⁱ	68358 [Q6ZUT3-1] 68359 [Q6ZUT3-2]

Protocols and materials databases

Antibodypediaⁱ	430, 102 antibodies

Antibodypediaⁱ

430, 102 antibodies

Genome annotation databases

Ensemblⁱ	ENST00000298542; ENSP00000298542; ENSG00000165694 [Q6ZUT3-1] ENST00000464296; ENSP00000417996; ENSG00000165694 [Q6ZUT3-2]
GeneIDⁱ	90167
KEGGⁱ	hsa:90167
UCSCⁱ	uc004ewn.4, human [Q6ZUT3-1]

Organism-specific databases

CTDⁱ	90167
DisGeNETⁱ	90167
GeneCardsⁱ	FRMD7
GeneReviewsⁱ	FRMD7
HGNCⁱ	HGNC:8079, FRMD7
HPAⁱ	ENSG00000165694, Group enriched (endometrium, kidney, smooth muscle)
MalaCardsⁱ	FRMD7
MIMⁱ	300628, gene 310700, phenotype
neXtProtⁱ	NX_Q6ZUT3
OpenTargetsⁱ	ENSG00000165694
Orphanetⁱ	651, NON RARE IN EUROPE: Idiopathic infantile nystagmus
PharmGKBⁱ	PA162388934
VEuPathDBⁱ	HostDB:ENSG00000165694.9
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3531, Eukaryota
GeneTreeⁱ	ENSGT00940000158972
HOGENOMⁱ	CLU_030239_0_0_1
InParanoidⁱ	Q6ZUT3
OMAⁱ	DIMPPQV
OrthoDBⁱ	476668at2759
PhylomeDBⁱ	Q6ZUT3
TreeFamⁱ	TF317513

Enzyme and pathway databases

PathwayCommonsⁱ	Q6ZUT3

PathwayCommonsⁱ

Q6ZUT3

Miscellaneous databases

BioGRID-ORCSⁱ	90167, 4 hits in 500 CRISPR screens
ChiTaRSⁱ	FRMD7, human
GeneWikiⁱ	FRMD7
GenomeRNAiⁱ	90167
Pharosⁱ	Q6ZUT3, Tbio
Protein Ontology More...PROⁱ	PR:Q6ZUT3
RNActⁱ	Q6ZUT3, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000165694, Expressed in calcaneal tendon and 42 other tissues
ExpressionAtlasⁱ	Q6ZUT3, baseline and differential
Genevisibleⁱ	Q6ZUT3, HS

Family and domain databases

CDDⁱ	cd14473, FERM_B-lobe, 1 hit cd13193, FERM_C_FARP1-like, 1 hit
Gene3Dⁱ	1.20.80.10, 1 hit 2.30.29.30, 1 hit
InterProⁱ	View protein in InterPro IPR019749, Band_41_domain IPR041788, FARP1/FARP2/FRMD7_FERM_C IPR014847, FERM-adjacent IPR014352, FERM/acyl-CoA-bd_prot_sf IPR035963, FERM_2 IPR019748, FERM_central IPR019747, FERM_CS IPR000299, FERM_domain IPR018979, FERM_N IPR018980, FERM_PH-like_C IPR011993, PH-like_dom_sf IPR029071, Ubiquitin-like_domsf
Pfamⁱ	View protein in Pfam PF08736, FA, 1 hit PF09380, FERM_C, 1 hit PF00373, FERM_M, 1 hit PF09379, FERM_N, 1 hit
PRINTSⁱ	PR00935, BAND41
SMARTⁱ	View protein in SMART SM00295, B41, 1 hit SM01195, FA, 1 hit SM01196, FERM_C, 1 hit
SUPFAMⁱ	SSF47031, SSF47031, 1 hit SSF54236, SSF54236, 1 hit
PROSITEⁱ	View protein in PROSITE PS00660, FERM_1, 1 hit PS50057, FERM_3, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	FRMD7_HUMAN
Accessionⁱ	Q6ZUT3Primary (citable) accession number: Q6ZUT3 Secondary accession number(s): C0LLJ3, Q5JX99
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
	Last sequence update:	July 5, 2004
	Last modified:	February 10, 2021
	This is version 147 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Reference proteome

Documents

Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q6ZUT3 (FRMD7_HUMAN)

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FERM domain-containing protein 7

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Cytoskeleton

Extracellular region or secreted

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Q6ZUT3

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Coiled coil

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ