SPTBN5 (spectrin beta, non-erythrocytic 5)

Gene

• Entrez ID: 51332
• Gene name: Spectrin beta, non-erythrocytic 5
• Gene symbol: SPTBN5
• Synonyms (NCBI Gene): BSPECV, HUBSPECV, HUSPECV
• Chromosome: 15
• Chromosome location: 15q15.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018034	hsa-miR-335-5p	Microarray	18185580
MIRT051390	hsa-let-7f-5p	CLASH	23622248
MIRT1386964	hsa-miR-1233	CLIP-seq
MIRT1386965	hsa-miR-1252	CLIP-seq
MIRT1386966	hsa-miR-129-3p	CLIP-seq
MIRT1386967	hsa-miR-4796-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002046	Function	Opsin binding	IEA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	NAS	10764729
GO:0005737	Component	Cytoplasm	IDA	23704327
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005875	Component	Microtubule associated complex	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007030	Process	Golgi organization	IMP	23704327
GO:0007041	Process	Lysosomal transport	IMP	23704327
GO:0008091	Component	Spectrin	NAS	10764729
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10764729
GO:0019894	Function	Kinesin binding	IDA	23704327
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	NAS	10764729
GO:0030054	Component	Cell junction	IBA
GO:0030507	Function	Spectrin binding	IDA	23704327
GO:0030507	Function	Spectrin binding	IEA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0032029	Function	Myosin tail binding	IDA	23704327
GO:0032391	Component	Photoreceptor connecting cilium	IDA	23704327
GO:0034452	Function	Dynactin binding	IDA	23704327
GO:0042802	Function	Identical protein binding	IDA	23704327
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IBA
GO:0043226	Component	Organelle	IEA
GO:0045179	Component	Apical cortex	IEA
GO:0045505	Function	Dynein intermediate chain binding	IDA	23704327
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051693	Process	Actin filament capping	IEA
GO:0097381	Component	Photoreceptor disc membrane	IDA	23704327
GO:0120025	Component	Plasma membrane bounded cell projection	IEA

Other IDs

• MIM: 605916
• HGNC: 15680
• e!Ensembl: ENSG00000137877

Protein

• UniProt ID: Q9NRC6
• Protein name: Spectrin beta chain, non-erythrocytic 5 (Beta-V spectrin)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	54 → 160	Calponin homology (CH) domain	Domain
  PF00307	CH	177 → 283	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	306 → 416	Spectrin repeat	Domain
  PF00435	Spectrin	426 → 531	Spectrin repeat	Domain
  PF00435	Spectrin	639 → 743	Spectrin repeat	Domain
  PF00435	Spectrin	745 → 817	Spectrin repeat	Domain
  PF00435	Spectrin	897 → 998	Spectrin repeat	Domain
  PF00435	Spectrin	1102 → 1206	Spectrin repeat	Domain
  PF00435	Spectrin	1208 → 1312	Spectrin repeat	Domain
  PF00435	Spectrin	1314 → 1417	Spectrin repeat	Domain
  PF00435	Spectrin	1520 → 1624	Spectrin repeat	Domain
  PF00435	Spectrin	1626 → 1728	Spectrin repeat	Domain
  PF00435	Spectrin	1730 → 1835	Spectrin repeat	Domain
  PF00435	Spectrin	1838 → 1941	Spectrin repeat	Domain
  PF00435	Spectrin	1943 → 2047	Spectrin repeat	Domain
  PF00435	Spectrin	2049 → 2147	Spectrin repeat	Domain
  PF00435	Spectrin	2149 → 2253	Spectrin repeat	Domain
  PF00435	Spectrin	2255 → 2362	Spectrin repeat	Domain
  PF00435	Spectrin	2364 → 2468	Spectrin repeat	Domain
  PF00435	Spectrin	2470 → 2574	Spectrin repeat	Domain
  PF00435	Spectrin	2576 → 2680	Spectrin repeat	Domain
  PF00435	Spectrin	2682 → 2785	Spectrin repeat	Domain
  PF00435	Spectrin	2788 → 2891	Spectrin repeat	Domain
  PF00435	Spectrin	2893 → 2997	Spectrin repeat	Domain
  PF00435	Spectrin	2999 → 3103	Spectrin repeat	Domain
  PF00435	Spectrin	3105 → 3210	Spectrin repeat	Domain
  PF00435	Spectrin	3212 → 3312	Spectrin repeat	Domain
  PF00435	Spectrin	3315 → 3418	Spectrin repeat	Domain
  PF00435	Spectrin	3421 → 3500	Spectrin repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at very low levels in many tissues, with strongest expression in cerebellum, spinal cord, stomach, pituitary gland, liver, pancreas, salivary gland, kidney, bladder, and heart.
• Sequence:

  MAGQPHSPRELLGAAGHRSRRPSTELRVPPSPSLTMDSQYETGHIRKLQARHMQMQEKTF
  TKWINNVFQCGQAGIKIRNLYTELADGIHLLRLLELISGEALPPPSRGRLRVHFLENSSR
  ALAFLRAKVPVPLIGPENIVDGDQTLILGLIWVIILRFQISHISLDKEEFGASAALLSTK
  EALLVWCQRKTASYTNVNITDFSRSWSDGLGFNALIHAHRPDLLDYGSLRPDRPLHNLAF
  AFLVAEQELGIAQLLDPEDVAAAQPDERSIMTYVSLYYHYCSRLHQGQTVQRRLTKILLQ
  LQETELLQTQYEQLVADLLRWIAEKQMQLEARDFPDSLPAMRQLLAAFTIFRTQEKPPRL
  QQRGAAEALLFRLQTALQAQNRRPFLPHEGLGLAELSQCWAGLEWAEAARSQALQQRLLQ
  LQRLETLARRFQHKAALRESFLKDAEQVLDQARAPPASLATVEAAVQRLGMLEAGILPQE
  GRFQALAEIADILRQEQYHSWADVARRQEEVTVRWQRLLQHLQGQRKQVADMQAVLSLLQ
  EVEAASHQLEELQEPARSTACGQQLAEVVELLQRHDLLEAQVSAHGAHVSHLAQQTAELD
  SSLGTSVEVLQAKARTLAQLQQSLVALVRARRALLEQTLQRAEFLRNCEEEEAWLKECGQ
  RVGNAALGRDLSQIAGALQKHKALEAEVHRHQAVCVDLVRRGRDLSARRPPTQPDPGERA
  EAVQGGWQLLQTRVVGRGARLQTALLVLQYFADAAEAASWLRERRSSLERASCGQDQAAA
  ETLLRRHVRLERVLRAFAAELRRLEEQGRAASARASLFTVNSALSPPGESLRNPGPWSEA
  SCHPGPGDAWKMALPAEPDPDFDPNTILQTQDHLSQDYESLRALAQLRRARLEEAMALFG
  FCSSCGELQLWLEKQTVLLQRVQPQADTLEVMQLKYENFLTALAVGKGLWAEVSSSAEQL
  RQRYPGNSTQIQRQQEELSQRWGQLEALKREKAVQLAHSVEVCSFLQECGPTQVQLRDVL
  LQLEALQPGSSEDTCHALQLAQKKTLVLERRVHFLQSVVVKVEEPGYAESQPLQGQVETL
  QGLLKQVQEQVAQRARRQAETQARQSFLQESQQLLLWAESVQAQLRSKEVSVDVASAQRL
  LREHQDLLEEIHLWQERLQQLDAQSQPMAALDCPDSQEVPNTLRVLGQQGQELKVLWEQR
  QQWLQEGLELQKFGREVDGFTATCANHQAWLHLDNLGEDVREALSLLQQHREFGRLLSTL
  GPRAEALRAHGEKLVQSQHPAAHTVREQLQSIQAQWTRLQGRSEQRRRQLLASLQLQEWK
  QDVAELMQWMEEKGLMAAHEPSGARRNILQTLKRHEAAESELLATRRHVEALQQVGRELL
  SRRPCGQEDIQTRLQGLRSKWEALNRKMTERGDELQQAGQQEQLLRQLQDAKEQLEQLEG
  ALQSSETGQDLRSSQRLQKRHQQLESESRTLAAKMAALASMAHGMAASPAILEETQKHLR
  RLELLQGHLAIRGLQLQASVELHQFCHLSNMELSWVAEHMPHGSPTSYTECLNGAQSLHR
  KHKELQVEVKAHQGQVQRVLSSGRSLAASGHPQAQHIVEQCQELEGHWAELERACEARAQ
  CLQQAVTFQQYFLDVSELEGWVEEKRPLVSSRDYGRDEAATLRLINKHQALQEELAIYWS
  SMEELDQTAQTLTGPEVPEQQRVVQERLREQLRALQELAATRDRELEGTLRLHEFLREAE
  DLQGWLASQKQAAKGGESLGEDPEHALHLCTKFAKFQHQVEMGSQRVAACRLLAESLLER
  GHSAGPMVRQRQQDLQTAWSELWELTQARGHALRDTETTLRVHRDLLEVLTQVQEKATSL
  PNNVARDLCGLEAQLRSHQGLERELVGTERQLQELLETAGRVQKLCPGPQAHAVQQRQQA
  VTQAWAVLQRRMEQRRAQLERARLLARFRTAVRDYASWAARVRQDLQVEESSQEPSSGPL
  KLSAHQWLRAELEAREKLWQQATQLGQQALLAAGTPTKEVQEELRALQDQRDQVYQTWAR
  KQERLQAEQQEQLFLRECGRLEEILAAQEVSLKTSALGSSVEEVEQLIRKHEVFLKVLTA
  QDKKEAALRERLKTLRRPRVRDRLPILLQRRMRVKELAESRGHALHASLLMASFTQAATQ
  AEDWIQAWAQQLKEPVPPGDLRDKLKPLLKHQAFEAEVQAHEEVMTSVAKKGEALLAQSH
  PRAGEVSQRLQGLRKHWEDLRQAMALRGQELEDRRNFLEFLQRVDLAEAWIQEKEVKMNV
  GDLGQDLEHCLQLRRRLREFRGNSAGDTVGDACIRSISDLSLQLKNRDPEEVKIICQRRS
  QLNNRWASFHGNLLRYQQQLEGALEIHVLSRELDNVTKRIQEKEALIQALDCGKDLESVQ
  RLLRKHEELEREVHPIQAQVESLEREVGRLCQRSPEAAHGLRHRQQEVAESWWQLRSRAQ
  KRREALDALHQAQKLQAMLQELLVSAQRLRAQMDTSPAPRSPVEARRMLEEHQECKAELD
  SWTDSISLARSTGQQLLTAGHPFSSDIRQVLAGLEQELSSLEGAWQEHQLQLQQALELQL
  FLSSVEKMERWLCSKEDSLASEGLWDPLAPMEPLLWKHKMLEWDLEVQAGKISALEATAR
  GLHQGGHPEAQSALGRCQAMLLRKEALFRQAGTRRHRLEELRQLQAFLQDSQEVAAWLRE
  KNLVALEEGLLDTAMLPAQLQKQQNFQAELDASMHQQQELQREGQRLLQGGHPASEAIQE
  RLEELGALWGELQDNSQKKVAKLQKACEALRLRRSMEELENWLEPIEVELRAPTVGQALP
  GVGELLGTQRELEAAVDKKARQAEALLGQAQAFVREGHCLAQDVEEQARRLLQRFKSLRE
  PLQERRTALEARSLLLKFFRDADEEMAWVQEKLPLAAAQDYGQSLSAVRHLQEQHQNLES
  EMSSHEALTRVVLGTGYKLVQAGHFAAHEVAARVQQLEKAMAHLRAEAARRRLLLQQAQE
  AQQFLTELLEAGSWLAERGHVLDSEDMGHSAEATQALLRRLEATKRDLEAFSPRIERLQQ
  TAALLESRKNPESPKVLAQLQAVREAHAELLRRAEARGHGLQEQLQLHQLERETLLLDAW
  LTTKAATAESQDYGQDLEGVKVLEEKFDAFRKEVQSLGQAKVYALRKLAGTLERGAPRRY
  PHIQAQRSRIEAAWERLDQAIKARTENLAAAHEVHSFQQAAAELQGRMQEKTALMKGEDG
  GHSLSSVRTLQQQHRRLERELEAMEKEVARLQTEACRLGQLHPAAPGGLAKVQEAWATLQ
  AKAQERGQWLAQAAQGHAFLGRCQELLAWAQERQELASSEELAEDVAGAEQLLGQHEELG
  QEIRECRLQAQDLRQEGQQLVDNSHFMSAEVTECLQELEGRLQELEEAWALRWQRCAESW
  GLQKLRQRLEQAEAWLACWEGLLLKPDYGHSVSDVELLLHRHQDLEKLLAAQEEKFAQMQ
  KTEMEQELLLQPQELKPGRAGSSLTSFQWRPSGHQGLGAQLAETRDPQDAKGTPTMEGSL
  EFKQHLLPGGRQPSSSSWDSCRGNLQGSSLSLFLDERMAAEKVASIALLDLTGARCERLR
  GRHGRKHTFSLRLTSGAEILFAAPSEEQAESWWRALGSTAAQSLSPKLKAKPVSSLNECT
  TKDARPGCLLRSDP

• Sequence length: 3674

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANDIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature birth	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPTBN5-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	29696773	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20043139		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20043139		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	28007035, 35274497	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28559012	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	33635380	Associate	★☆☆☆☆ Found in Text Mining only